|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
|
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
|
NM_001142616.3(EHBP1):c.1185+30064G>A
|
rs721048
|
0.13334
|
|
NM_000222.3(KIT):c.1621A>C (p.Met541Leu)
|
rs3822214
|
0.07727
|
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
|
NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp)
|
rs1805076
|
0.00712
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser)
|
rs35882952
|
0.00424
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)
|
rs74315364
|
0.00334
|
|
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys)
|
rs121908982
|
0.00314
|
|
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)
|
rs28936395
|
0.00287
|
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
|
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)
|
rs104893751
|
0.00233
|
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
|
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
|
rs119484087
|
0.00156
|
|
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)
|
rs137852593
|
0.00141
|
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
|
NM_016218.6(POLK):c.85G>A (p.Glu29Lys)
|
rs148960463
|
0.00137
|
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
|
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_001122955.3(BSCL2):c.-291G>A
|
rs190405606
|
0.00022
|
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
|
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile)
|
rs74315365
|
0.00021
|
|
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met)
|
rs149561185
|
0.00020
|
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
|
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)
|
rs139524801
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_000044.6(AR):c.208C>T (p.Gln70Ter)
|
rs1281274698
|
0.00017
|
|
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu)
|
rs121434388
|
0.00017
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
|
NM_000044.6(AR):c.1195T>C (p.Trp399Arg)
|
rs774645775
|
0.00010
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
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_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
|
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)
|
rs121434507
|
0.00006
|
|
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)
|
rs121434569
|
0.00006
|
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)
|
rs367604031
|
0.00004
|
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
|
NM_000044.6(AR):c.1208C>T (p.Ala403Val)
|
rs772490323
|
0.00003
|
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
|
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
|
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)
|
rs730881333
|
0.00003
|
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
|
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)
|
rs1364256214
|
0.00003
|
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
|
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)
|
rs778855567
|
0.00003
|
|
NM_005228.5(EGFR):c.2492G>A (p.Arg831His)
|
rs150036236
|
0.00003
|
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
|
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr)
|
rs119490107
|
0.00003
|
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
|
NM_000044.6(AR):c.1651G>C (p.Asp551His)
|
rs777461721
|
0.00002
|
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
|
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)
|
rs765769406
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter)
|
rs142947311
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
0.00002
|
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
|
NM_024675.4(PALB2):c.3285_3286insGTTAATG (p.Asn1096fs)
|
rs1966508734
|
0.00002
|
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
|
NM_138711.6(PPARG):c.857G>A (p.Arg286His)
|
rs28936407
|
0.00002
|
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
|
NM_000044.6(AR):c.1175C>G (p.Pro392Arg)
|
rs773996740
|
0.00001
|
|
NM_000044.6(AR):c.2184C>G (p.Asn728Lys)
|
rs768869912
|
0.00001
|
|
NM_000044.6(AR):c.2191G>A (p.Val731Met)
|
rs137852571
|
0.00001
|
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
|
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)
|
rs786202195
|
0.00001
|
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
|
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter)
|
rs766438805
|
0.00001
|
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
|
NM_000051.4(ATM):c.4909+1G>A
|
rs756987454
|
0.00001
|
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
|
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)
|
rs2083444895
|
0.00001
|
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
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.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
|
NM_000051.4(ATM):c.6839del (p.Gln2280fs)
|
rs1407907917
|
0.00001
|
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
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.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
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.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
rs80358464
|
0.00001
|
|
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)
|
rs397507279
|
0.00001
|
|
NM_000059.4(BRCA2):c.2092del (p.Leu698fs)
|
rs80359322
|
0.00001
|
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
rs41293477
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
|
NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer)
|
rs730881620
|
0.00001
|
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
|
NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs)
|
rs120074205
|
0.00001
|
|
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)
|
rs80359490
|
0.00001
|
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
|
NM_000059.4(BRCA2):c.6235del (p.Val2079fs)
|
rs397507835
|
0.00001
|
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
|
NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)
|
rs754611265
|
0.00001
|
|
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)
|
rs200078639
|
0.00001
|
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
rs80358943
|
0.00001
|
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
|
NM_000124.4(ERCC6):c.2830-2A>G
|
rs373227647
|
0.00001
|
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
|
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
|
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter)
|
rs878853995
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)
|
rs761702998
|
0.00001
|
|
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter)
|
rs1213894295
|
0.00001
|
|
NM_000465.4(BARD1):c.1512dup (p.Gly505fs)
|
rs1553619249
|
0.00001
|
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
|
NM_000465.4(BARD1):c.16C>T (p.Gln6Ter)
|
rs876658234
|
0.00001
|
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
0.00001
|
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
|
NM_000546.6(TP53):c.376-1G>A
|
rs868137297
|
0.00001
|
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
|
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)
|
rs587780068
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
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.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.840A>T (p.Arg280Ser)
|
rs1567547687
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
|
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)
|
rs750592289
|
0.00001
|
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
|
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln)
|
rs121917732
|
0.00001
|
|
NM_001127511.3(APC):c.-192A>G
|
rs879253784
|
0.00001
|
|
NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)
|
rs758599826
|
0.00001
|
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
|
NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe)
|
rs121909071
|
0.00001
|
|
NM_003579.4(RAD54L):c.188C>A (p.Pro63His)
|
rs121908688
|
0.00001
|
|
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)
|
rs121908690
|
0.00001
|
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
0.00001
|
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
|
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys)
|
rs139429793
|
0.00001
|
|
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)
|
rs780001540
|
0.00001
|
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
|
NM_007194.4(CHEK2):c.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.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
|
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)
|
rs80357418
|
0.00001
|
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_016218.6(POLK):c.1284G>A (p.Ala428=)
|
rs770984846
|
0.00001
|
|
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)
|
rs387906327
|
0.00001
|
|
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)
|
rs781626187
|
0.00001
|
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
|
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter)
|
rs771907995
|
0.00001
|
|
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)
|
rs886041158
|
0.00001
|
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
rs587782446
|
0.00001
|
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
rs752592662
|
0.00001
|
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
0.00001
|
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
|
FGFR2-CLIP1 fusion
|
|
|
|
NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1
|
|
|
|
NC_000001.10:g.(?_193091331)_(193172992_?)del
|
|
|
|
NC_000001.10:g.(?_193099298)_(193099379_?)del
|
|
|
|
NC_000001.10:g.(?_193104511)_(193104729_?)del
|
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)del
|
|
|
|
NC_000001.10:g.(?_193202113)_(193205496_?)del
|
|
|
|
NC_000001.11:g.(?_193122191)_(193122341_?)del
|
|
|
|
NC_000001.11:g.(?_193122191)_(193125227_?)del
|
|
|
|
NC_000001.11:g.(?_193122191)_(193150392_?)del
|
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)del
|
|
|
|
NC_000001.11:g.(?_193122191)_(193250722_?)del
|
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)del
|
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)del
|
|
|
|
NC_000001.11:g.(?_193125102)_(193130253_?)del
|
|
|
|
NC_000001.11:g.(?_193130174)_(193130243_?)del
|
|
|
|
NC_000001.11:g.(?_193135381)_(193138183_?)del
|
|
|
|
NC_000001.11:g.(?_193236246)_(193236366_?)del
|
|
|
|
NC_000002.11:g.(?_215590360)_(215674445_?)del
|
|
|
|
NC_000002.11:g.(?_215593394)_(215634042_?)del
|
|
|
|
NC_000002.11:g.(?_215593400)_(215610588_?)del
|
|
|
|
NC_000002.11:g.(?_215593400)_(215617289_?)del
|
|
|
|
NC_000002.11:g.(?_215593400)_(215634046_?)del
|
|
|
|
NC_000002.11:g.(?_215593400)_(215646243_?)del
|
|
|
|
NC_000002.11:g.(?_215593400)_(215657179_?)del
|
|
|
|
NC_000002.11:g.(?_215593400)_(215661851_?)del
|
|
|
|
NC_000002.11:g.(?_215609620)_(215674259_?)del
|
|
|
|
NC_000002.11:g.(?_215609781)_(215610588_?)del
|
|
|
|
NC_000002.11:g.(?_215609781)_(215634046_?)del
|
|
|
|
NC_000002.11:g.(?_215610976)_(215619002_?)del
|
|
|
|
NC_000002.11:g.(?_215617161)_(215617289_?)del
|
|
|
|
NC_000002.11:g.(?_215617161)_(215674293_?)del
|
|
|
|
NC_000002.11:g.(?_215633946)_(215674293_?)del
|
|
|
|
NC_000002.11:g.(?_215645264)_(215646253_?)del
|
|
|
|
NC_000002.11:g.(?_215645274)_(215646243_?)del
|
|
|
|
NC_000002.11:g.(?_215645274)_(215661851_?)del
|
|
|
|
NC_000002.11:g.(?_215645274)_(215674293_?)del
|
|
|
|
NC_000002.11:g.(?_215657011)_(215674293_?)del
|
|
|
|
NC_000002.11:g.(?_215661775)_(215661851_?)del
|
|
|
|
NC_000002.11:g.(?_215661775)_(215674293_?)del
|
|
|
|
NC_000002.11:g.215591300_215623516del
|
|
|
|
NC_000002.12:g.(?_214728666)_(214745864_?)del
|
|
|
|
NC_000002.12:g.(?_214728666)_(214797127_?)del
|
|
|
|
NC_000002.12:g.(?_214728666)_(214809579_?)del
|
|
|
|
NC_000002.12:g.(?_214728670)_(214781515_?)del
|
|
|
|
NC_000002.12:g.(?_214728676)_(214809569_?)del
|
|
|
|
NC_000002.12:g.(?_214745057)_(214767664_?)del
|
|
|
|
NC_000002.12:g.(?_214745057)_(214809569_?)del
|
|
|
|
NC_000002.12:g.(?_214745057)_(214809579_?)del
|
|
|
|
NC_000002.12:g.(?_214745712)_(214752565_?)del
|
|
|
|
NC_000002.12:g.(?_214745716)_(214752561_?)del
|
|
|
|
NC_000002.12:g.(?_214752437)_(214781519_?)del
|
|
|
|
NC_000002.12:g.(?_214752437)_(214809579_?)del
|
|
|
|
NC_000002.12:g.(?_214752441)_(214752561_?)del
|
|
|
|
NC_000002.12:g.(?_214767472)_(214767664_?)del
|
|
|
|
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rs2152142199
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NC_000016.9:g.23641376_23641377insAlu
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NG_008150.2:g.(27473_34849)_(43363_46929)dup
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NM_000038.6(APC):c.-2_136-2903del
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NM_000038.6(APC):c.1046_1140del (p.Gln349fs)
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rs2149780373
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NM_000038.6(APC):c.1259_1269del (p.Cys420fs)
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rs2149783399
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NM_000038.6(APC):c.1312+1G>A
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rs863225310
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NM_000038.6(APC):c.1312+3A>G
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rs863225311
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NM_000038.6(APC):c.1313-2_1743+144del
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NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
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rs1554080698
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NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
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rs1060503333
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NM_000038.6(APC):c.1409-2del
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rs2149808371
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NM_000038.6(APC):c.147_150del (p.Lys49fs)
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rs587781694
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NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
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rs137854580
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NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
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rs879254090
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NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
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rs137854572
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NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
|
NM_000038.6(APC):c.1744-2_1958+1del
|
rs2149840729
|
|
|
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter)
|
rs1554083122
|
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
|
NM_000038.6(APC):c.194del (p.Gln65fs)
|
rs2149784543
|
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
|
NM_000038.6(APC):c.1958G>A (p.Arg653Lys)
|
rs1060503318
|
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
|
NM_000038.6(APC):c.203T>G (p.Leu68Ter)
|
rs1554069549
|
|
|
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)
|
rs1554083998
|
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
|
NM_000038.6(APC):c.2487del (p.Val830fs)
|
rs2149870772
|
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
|
NM_000038.6(APC):c.2612del (p.Gly871fs)
|
rs1554084299
|
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
|
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)
|
rs137854575
|
|
|
NM_000038.6(APC):c.2893_2896del (p.Asn965fs)
|
rs2149879574
|
|
|
NM_000038.6(APC):c.2938A>T (p.Lys980Ter)
|
rs1554084592
|
|
|
NM_000038.6(APC):c.2950G>T (p.Glu984Ter)
|
rs1254176854
|
|
|
NM_000038.6(APC):c.3026del (p.His1009fs)
|
rs2149882615
|
|
|
NM_000038.6(APC):c.3028del (p.Ser1010fs)
|
rs1554084648
|
|
|
NM_000038.6(APC):c.3079del (p.Tyr1027fs)
|
rs863225337
|
|
|
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs)
|
rs1554084698
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
|
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter)
|
rs1462312032
|
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
|
NM_000038.6(APC):c.325G>T (p.Glu109Ter)
|
rs1414406816
|
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
|
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs)
|
rs1554085005
|
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
|
NM_000038.6(APC):c.346_359del (p.Gly116fs)
|
rs1554069805
|
|
|
NM_000038.6(APC):c.3567dup (p.Ser1190fs)
|
rs1554085117
|
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
|
NM_000038.6(APC):c.3847del (p.Ala1283fs)
|
rs2149900353
|
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
|
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs)
|
rs1554085479
|
|
|
NM_000038.6(APC):c.4164_4165del (p.Ser1389fs)
|
rs2149908008
|
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
|
NM_000038.6(APC):c.423-3_531+198del
|
rs2149614301
|
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
|
NM_000038.6(APC):c.4241del (p.Val1414fs)
|
rs1554085659
|
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
|
NM_000038.6(APC):c.458del (p.Lys153fs)
|
rs1554071521
|
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
|
NM_000038.6(APC):c.492_495del (p.Asn164fs)
|
rs1554071590
|
|
|
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs)
|
rs1554086327
|
|
|
NM_000038.6(APC):c.594dup (p.Ala199fs)
|
rs1554072616
|
|
|
NM_000038.6(APC):c.5978del (p.Pro1993fs)
|
rs1554087123
|
|
|
NM_000038.6(APC):c.604del (p.Glu202fs)
|
rs2149640346
|
|
|
NM_000038.6(APC):c.6135del (p.Ala2046fs)
|
rs1554087239
|
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
|
NM_000038.6(APC):c.893_894del (p.His298fs)
|
rs1114167567
|
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
|
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)
|
rs752055010
|
|
|
NM_000044.6(AR):c.1943G>A (p.Ser648Asn)
|
rs137852584
|
|
|
NM_000044.6(AR):c.2164G>A (p.Ala722Thr)
|
rs137852583
|
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
|
NM_000044.6(AR):c.2623C>T (p.His875Tyr)
|
rs137852581
|
|
|
NM_000044.6(AR):c.2632A>G (p.Thr878Ala)
|
rs137852578
|
|
|
NM_000044.6(AR):c.2633C>G (p.Thr878Ser)
|
rs137852580
|
|
|
NM_000044.6(AR):c.2708A>G (p.Gln903Arg)
|
rs137852582
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
|
NM_000051.4(ATM):c.1000_1001insA (p.Ser334fs)
|
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
|
NM_000051.4(ATM):c.1012_1014delinsCTTCAGG (p.Asn338fs)
|
|
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
|
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
|
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
|
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)
|
rs2135268548
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
|
NM_000051.4(ATM):c.1061dup (p.His354fs)
|
|
|
|
NM_000051.4(ATM):c.1062_1063delinsTT (p.Gln355Ter)
|
|
|
|
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)
|
rs1555068615
|
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
|
NM_000051.4(ATM):c.1073del (p.Asn358fs)
|
|
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
|
NM_000051.4(ATM):c.1078del (p.Asp360fs)
|
rs2135290302
|
|
|
NM_000051.4(ATM):c.1102C>T (p.Gln368Ter)
|
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
|
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)
|
rs376170600
|
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
|
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)
|
rs1591517456
|
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
|
NM_000051.4(ATM):c.1120del (p.Gln374fs)
|
rs2135292079
|
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
|
NM_000051.4(ATM):c.1124del (p.Arg375fs)
|
rs1555069653
|
|
|
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs)
|
rs1064795624
|
|
|
NM_000051.4(ATM):c.1128dup (p.Ser377fs)
|
|
|
|
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)
|
rs1555069677
|
|
|
NM_000051.4(ATM):c.1152C>A (p.Cys384Ter)
|
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
|
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
|
NM_000051.4(ATM):c.1171del (p.Glu390_Leu391insTer)
|
|
|
|
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)
|
rs1025339570
|
|
|
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)
|
rs876658567
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
|
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
|
|
|
|
NM_000051.4(ATM):c.1204A>T (p.Lys402Ter)
|
|
|
|
NM_000051.4(ATM):c.1209_1228delinsTTC (p.Gln404fs)
|
|
|
|
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)
|
rs1060501609
|
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
|
NM_000051.4(ATM):c.1236G>A (p.Trp412Ter)
|
|
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
|
NM_000051.4(ATM):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)
|
rs2135316531
|
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
|
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)
|
rs1555070694
|
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
|
NM_000051.4(ATM):c.1329del (p.Gln445fs)
|
rs587782844
|
|
|
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)
|
rs2080097197
|
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
|
NM_000051.4(ATM):c.1348del (p.Glu450fs)
|
rs758004668
|
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
|
NM_000051.4(ATM):c.1361_1362del (p.Tyr454fs)
|
|
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
|
NM_000051.4(ATM):c.1368dup (p.Arg457fs)
|
rs1565382593
|
|
|
NM_000051.4(ATM):c.1374C>A (p.Cys458Ter)
|
|
|
|
NM_000051.4(ATM):c.1378dup (p.Thr460fs)
|
rs2080101851
|
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
|
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)
|
rs2080103035
|
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
|
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
|
|
|
|
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)
|
rs2080106350
|
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
|
NM_000051.4(ATM):c.1439del (p.Leu480fs)
|
|
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
|
NM_000051.4(ATM):c.1464del (p.Trp488fs)
|
rs1555070994
|
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
|
NM_000051.4(ATM):c.1479del (p.Gly494fs)
|
|
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
|
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)
|
rs1060501529
|
|
|
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)
|
rs786203888
|
|
|
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)
|
rs2135325561
|
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
|
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)
|
rs786202195
|
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
|
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
|
|
|
|
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)
|
rs2080118610
|
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
|
NM_000051.4(ATM):c.1573_1586del (p.Lys525fs)
|
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.1589C>G (p.Ser530Ter)
|
|
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
|
NM_000051.4(ATM):c.15del (p.Asn6fs)
|
|
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
|
NM_000051.4(ATM):c.160del (p.Tyr54fs)
|
|
|
|
NM_000051.4(ATM):c.1621dup (p.Cys541fs)
|
|
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
|
NM_000051.4(ATM):c.1653del (p.Pro552fs)
|
rs2080167483
|
|
|
NM_000051.4(ATM):c.1658del (p.Gly553fs)
|
rs1064796556
|
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
|
NM_000051.4(ATM):c.1688_1695del (p.Met563fs)
|
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
|
NM_000051.4(ATM):c.1718del (p.Lys573fs)
|
|
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
|
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)
|
rs1565385883
|
|
|
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)
|
rs1064796083
|
|
|
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)
|
rs2080176523
|
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
|
NM_000051.4(ATM):c.1757del (p.Glu586fs)
|
|
|
|
NM_000051.4(ATM):c.1762del (p.Asp588fs)
|
rs2135343498
|
|
|
NM_000051.4(ATM):c.1766T>A (p.Leu589Ter)
|
|
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
|
NM_000051.4(ATM):c.1790dup (p.Ile598fs)
|
|
|
|
NM_000051.4(ATM):c.1809del (p.Pro604fs)
|
|
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
|
NM_000051.4(ATM):c.1880del (p.Phe627fs)
|
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
|
NM_000051.4(ATM):c.1882del (p.Gln628fs)
|
|
|
|
NM_000051.4(ATM):c.1888del (p.Val630fs)
|
|
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
|
NM_000051.4(ATM):c.1903del (p.His635fs)
|
|
|
|
NM_000051.4(ATM):c.1914_1916delinsGG (p.Asp639fs)
|
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
|
NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)
|
|
|
|
NM_000051.4(ATM):c.191del (p.Leu64fs)
|
|
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
|
NM_000051.4(ATM):c.1920del (p.Glu641fs)
|
|
|
|
NM_000051.4(ATM):c.1924delinsCT (p.Glu642fs)
|
|
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
|
NM_000051.4(ATM):c.1935del (p.Ser646fs)
|
|
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
|
NM_000051.4(ATM):c.1956del (p.Leu653fs)
|
|
|
|
NM_000051.4(ATM):c.1978del (p.Met660fs)
|
|
|
|
NM_000051.4(ATM):c.1988del (p.Phe662_Leu663insTer)
|
|
|
|
NM_000051.4(ATM):c.1992del (p.Ile665fs)
|
|
|
|
NM_000051.4(ATM):c.1993_1994del (p.Ile665fs)
|
|
|
|
NM_000051.4(ATM):c.1998_2004del (p.Arg667fs)
|
|
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
|
NM_000051.4(ATM):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000051.4(ATM):c.2036_2038delinsTCCACCAGAA (p.Gly679fs)
|
|
|
|
NM_000051.4(ATM):c.2044_2045del (p.Val682fs)
|
|
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
|
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
|
|
|
|
NM_000051.4(ATM):c.2082del (p.Leu695fs)
|
|
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
|
NM_000051.4(ATM):c.2101del (p.Leu701fs)
|
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
|
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)
|
rs2080317430
|
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
|
NM_000051.4(ATM):c.2117C>A (p.Ser706Ter)
|
|
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
|
|
|
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
|
|
|
|
NM_000051.4(ATM):c.2136del (p.Glu713fs)
|
|
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
|
NM_000051.4(ATM):c.2184del (p.Tyr729fs)
|
|
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
|
NM_000051.4(ATM):c.2209G>T (p.Glu737Ter)
|
|
|
|
NM_000051.4(ATM):c.2218del (p.Ala740fs)
|
|
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
|
NM_000051.4(ATM):c.222_225del (p.Glu73_Cys74insTer)
|
|
|
|
NM_000051.4(ATM):c.2237del (p.Phe746fs)
|
|
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
|
NM_000051.4(ATM):c.2289del (p.Phe763fs)
|
|
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
|
NM_000051.4(ATM):c.229dup (p.Ile77fs)
|
rs1565346867
|
|
|
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)
|
rs1565397179
|
|
|
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)
|
rs2080577927
|
|
|
NM_000051.4(ATM):c.2314del (p.Arg772fs)
|
|
|
|
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)
|
rs1555075781
|
|
|
NM_000051.4(ATM):c.2360T>A (p.Leu787Ter)
|
|
|
|
NM_000051.4(ATM):c.2360del (p.Cys786_Leu787insTer)
|
|
|
|
NM_000051.4(ATM):c.2376+1G>A
|
rs730881347
|
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
|
NM_000051.4(ATM):c.2379del (p.Ser794fs)
|
|
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
|
NM_000051.4(ATM):c.2388_2389dup (p.Lys797fs)
|
|
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
|
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
|
|
|
|
NM_000051.4(ATM):c.242del (p.Asn81fs)
|
|
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
|
NM_000051.4(ATM):c.248C>G (p.Ser83Ter)
|
|
|
|
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)
|
rs876658804
|
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
|
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.2521del (p.Asp841fs)
|
rs1175457710
|
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
|
NM_000051.4(ATM):c.2534del (p.Asn845fs)
|
rs1591587673
|
|
|
NM_000051.4(ATM):c.2536_2537dup (p.Leu846_Met847insTer)
|
|
|
|
NM_000051.4(ATM):c.2551del (p.Asp851fs)
|
|
|
|
NM_000051.4(ATM):c.2564dup (p.Met855fs)
|
rs730881299
|
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
|
NM_000051.4(ATM):c.2585del (p.Pro862fs)
|
|
|
|
NM_000051.4(ATM):c.2586del (p.Asp863fs)
|
|
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
|
NM_000051.4(ATM):c.2617G>T (p.Gly873Ter)
|
|
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
|
NM_000051.4(ATM):c.2623del (p.Ser875fs)
|
|
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
|
NM_000051.4(ATM):c.2654T>A (p.Leu885Ter)
|
|
|
|
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)
|
rs1060501679
|
|
|
NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)
|
rs879254083
|
|
|
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
|
|
|
|
NM_000051.4(ATM):c.2665dup (p.Tyr889fs)
|
rs2135523450
|
|
|
NM_000051.4(ATM):c.2668_2669del (p.Leu890fs)
|
|
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
|
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)
|
rs1555083131
|
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
|
NM_000051.4(ATM):c.2700dup (p.Leu901fs)
|
rs1555083198
|
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
|
NM_000051.4(ATM):c.2725_2728dup (p.Thr910fs)
|
|
|
|
NM_000051.4(ATM):c.2727del (p.Thr910fs)
|
rs1555083267
|
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
|
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)
|
rs764409952
|
|
|
NM_000051.4(ATM):c.2736del (p.Thr913fs)
|
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
|
NM_000051.4(ATM):c.2775del (p.Lys926fs)
|
rs1060501702
|
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
|
NM_000051.4(ATM):c.2794del (p.Asp932fs)
|
|
|
|
NM_000051.4(ATM):c.2797del (p.Ser933fs)
|
|
|
|
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
|
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
|
NM_000051.4(ATM):c.281dup (p.Met94fs)
|
|
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
|
NM_000051.4(ATM):c.2865del (p.Gly956fs)
|
|
|
|
NM_000051.4(ATM):c.2879_2880del (p.Pro960fs)
|
|
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
|
NM_000051.4(ATM):c.2881_2885del (p.Leu961fs)
|
|
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
|
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)
|
rs587781656
|
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
|
NM_000051.4(ATM):c.2956del (p.Val986fs)
|
rs2135552199
|
|
|
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
|
|
|
|
NM_000051.4(ATM):c.2965del (p.Thr989fs)
|
rs786203539
|
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
|
NM_000051.4(ATM):c.2972T>A (p.Leu991Ter)
|
|
|
|
NM_000051.4(ATM):c.2977del (p.His993fs)
|
|
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
|
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
|
|
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
|
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)
|
rs2135553856
|
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
|
NM_000051.4(ATM):c.3035_3038dup (p.Asp1013fs)
|
|
|
|
NM_000051.4(ATM):c.3038dup (p.Asp1013fs)
|
rs1131691163
|
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
|
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)
|
rs2081575204
|
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
|
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs)
|
rs2135565843
|
|
|
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
|
|
|
|
NM_000051.4(ATM):c.311del (p.Phe104fs)
|
rs1555055309
|
|
|
NM_000051.4(ATM):c.3141_3142del (p.Lys1047fs)
|
|
|
|
NM_000051.4(ATM):c.3146del (p.Leu1049fs)
|
|
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
|
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)
|
rs1565428419
|
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
|
|
|
NM_000051.4(ATM):c.316A>T (p.Lys106Ter)
|
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
|
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
|
|
|
|
NM_000051.4(ATM):c.3188dup (p.Met1064fs)
|
rs2135570632
|
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
|
NM_000051.4(ATM):c.320dup (p.Cys107fs)
|
rs2078893430
|
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
|
NM_000051.4(ATM):c.3230_3231del (p.Phe1077fs)
|
|
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
|
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs)
|
rs761486324
|
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
|
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)
|
rs1386063673
|
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
|
NM_000051.4(ATM):c.325_326del (p.Asn109fs)
|
rs2135038488
|
|
|
NM_000051.4(ATM):c.3261del (p.Met1087fs)
|
rs1565429054
|
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
|
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)
|
rs1131691155
|
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
|
NM_000051.4(ATM):c.3285-2A>G
|
rs1591631876
|
|
|
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
|
|
|
|
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)
|
rs773964990
|
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
|
NM_000051.4(ATM):c.3292dup (p.Gln1098fs)
|
|
|
|
NM_000051.4(ATM):c.3297del (p.Asp1099fs)
|
rs2082115419
|
|
|
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)
|
rs147557621
|
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
|
NM_000051.4(ATM):c.3310del (p.Ser1104fs)
|
|
|
|
NM_000051.4(ATM):c.3310dup (p.Ser1104fs)
|
|
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
|
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)
|
rs1555090139
|
|
|
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)
|
rs1049900772
|
|
|
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)
|
rs2135644009
|
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
|
NM_000051.4(ATM):c.334del (p.Ala112fs)
|
|
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
|
NM_000051.4(ATM):c.3356_3357del (p.Ala1119fs)
|
|
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
|
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)
|
rs876659825
|
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
|
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
|
|
|
NM_000051.4(ATM):c.3431del (p.Leu1144fs)
|
rs1555091158
|
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
|
NM_000051.4(ATM):c.3439del (p.Ile1147fs)
|
|
|
|
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)
|
rs786201209
|
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
|
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)
|
rs2135666539
|
|
|
NM_000051.4(ATM):c.3461del (p.Leu1154fs)
|
|
|
|
NM_000051.4(ATM):c.3470_3479del (p.Leu1157fs)
|
|
|
|
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
|
|
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
|
NM_000051.4(ATM):c.3485del (p.Leu1162fs)
|
rs2082207948
|
|
|
NM_000051.4(ATM):c.3509_3510del (p.Lys1170fs)
|
|
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
|
NM_000051.4(ATM):c.3517_3518del (p.Leu1173fs)
|
|
|
|
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)
|
rs1394502687
|
|
|
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
|
|
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
|
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
|
rs2079235532
|
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
|
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)
|
rs768356403
|
|
|
NM_000051.4(ATM):c.3589del (p.Val1197fs)
|
|
|
|
NM_000051.4(ATM):c.3592dup (p.Ser1198fs)
|
|
|
|
NM_000051.4(ATM):c.3599_3600del (p.Thr1200fs)
|
|
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
|
NM_000051.4(ATM):c.3605del (p.Gly1202fs)
|
|
|
|
NM_000051.4(ATM):c.3607_3620del (p.Tyr1203fs)
|
|
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
|
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
|
|
|
|
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
|
|
|
|
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)
|
rs876660783
|
|
|
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)
|
rs772724024
|
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
|
NM_000051.4(ATM):c.3634del (p.Ser1212fs)
|
|
|
|
NM_000051.4(ATM):c.3656dup (p.Leu1219fs)
|
|
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
|
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
|
|
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
|
NM_000051.4(ATM):c.3747-1G>T
|
|
|
|
NM_000051.4(ATM):c.3750_3751del (p.Cys1251fs)
|
|
|
|
NM_000051.4(ATM):c.3753T>A (p.Cys1251Ter)
|
|
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
|
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.3758_3759del (p.Lys1253fs)
|
rs2135704536
|
|
|
NM_000051.4(ATM):c.3760del (p.Val1254fs)
|
rs786203507
|
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
|
NM_000051.4(ATM):c.3771dup (p.His1258fs)
|
|
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
|
NM_000051.4(ATM):c.3799G>T (p.Glu1267Ter)
|
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000051.4(ATM):c.3807_3811del (p.Lys1269fs)
|
|
|
|
NM_000051.4(ATM):c.3810_3813delinsAATGG (p.Ile1271fs)
|
|
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
|
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
|
|
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
|
NM_000051.4(ATM):c.3837G>A (p.Trp1279Ter)
|
|
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
|
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
|
NM_000051.4(ATM):c.3915_3916del (p.Asp1305fs)
|
|
|
|
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs)
|
rs2135708324
|
|
|
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
|
|
|
|
NM_000051.4(ATM):c.3929del (p.Gln1310fs)
|
|
|
|
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.3956_3957del (p.Val1318_Tyr1319insTer)
|
|
|
|
NM_000051.4(ATM):c.3963delinsTGTGTATGGGTATGGTATGTGTGTTGCTGGTGAGGGGACTTGCTAAGTATTGTTAACTAATTTTAAATTAAACAAATTTCA (p.Met1321delinsIleValTyrGlyTyrGlyMetCysValAlaGlyGluGlyThrCysTer)
|
|
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
|
NM_000051.4(ATM):c.3G>C (p.Met1Ile)
|
|
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
|
NM_000051.4(ATM):c.4002_4005del (p.Leu1335fs)
|
|
|
|
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
|
|
|
|
NM_000051.4(ATM):c.4004T>G (p.Leu1335Ter)
|
|
|
|
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)
|
rs2082559544
|
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
|
NM_000051.4(ATM):c.4066_4072delinsTGTCAGTAACACTAGTTACT (p.Asn1356_Ser1358delinsCysGlnTer)
|
|
|
|
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)
|
rs121434222
|
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
|
NM_000051.4(ATM):c.4095_4096insCT (p.Cys1366fs)
|
|
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
|
NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)
|
|
|
|
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
|
|
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
|
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
|
rs2082638431
|
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
|
NM_000051.4(ATM):c.4146del (p.Ser1383fs)
|
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
|
NM_000051.4(ATM):c.4158dup (p.Lys1387Ter)
|
|
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
|
|
|
NM_000051.4(ATM):c.417del (p.Asp140fs)
|
|
|
|
NM_000051.4(ATM):c.4188T>A (p.Cys1396Ter)
|
|
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
|
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)
|
rs1555096975
|
|
|
NM_000051.4(ATM):c.4210del (p.Ile1404fs)
|
|
|
|
NM_000051.4(ATM):c.4214T>G (p.Leu1405Ter)
|
|
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
|
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)
|
rs1591662598
|
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
|
NM_000051.4(ATM):c.4258_4259del (p.Leu1420fs)
|
|
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
|
NM_000051.4(ATM):c.4299_4300del (p.Tyr1433_Lys1434delinsTer)
|
|
|
|
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)
|
rs876660964
|
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
|
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)
|
rs1064792938
|
|
|
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)
|
rs2135762355
|
|
|
NM_000051.4(ATM):c.4344dup (p.Leu1449fs)
|
rs1555097604
|
|
|
NM_000051.4(ATM):c.4353dup (p.Asp1452fs)
|
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
|
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)
|
rs1294578913
|
|
|
NM_000051.4(ATM):c.4389del (p.Phe1463fs)
|
|
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
|
|
|
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)
|
rs772555314
|
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
|
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
|
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
|
NM_000051.4(ATM):c.4463T>G (p.Leu1488Ter)
|
|
|
|
NM_000051.4(ATM):c.4465dup (p.Arg1489fs)
|
|
|
|
NM_000051.4(ATM):c.4473del (p.Ser1492fs)
|
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
|
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)
|
rs1329359780
|
|
|
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
|
|
|
|
NM_000051.4(ATM):c.4495_4496insTAAA (p.Ser1499fs)
|
|
|
|
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
|
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
|
NM_000051.4(ATM):c.4572dup (p.Ile1525fs)
|
|
|
|
NM_000051.4(ATM):c.4573dup (p.Ile1525fs)
|
|
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
|
NM_000051.4(ATM):c.4592del (p.Gln1531fs)
|
|
|
|
NM_000051.4(ATM):c.4603del (p.Gln1535fs)
|
|
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
|
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
|
|
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
|
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
|
|
|
|
NM_000051.4(ATM):c.4622del (p.Leu1541fs)
|
rs2135809766
|
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
|
NM_000051.4(ATM):c.465C>A (p.Tyr155Ter)
|
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
|
NM_000051.4(ATM):c.4664_4665insATATATCTATATATAGGTTTTAGATCCTATATCTATATCTATATAGGATCTAAAAG (p.Ile1557_Thr1558insTyrIleTerTyrIle)
|
|
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
|
NM_000051.4(ATM):c.4665_4666del (p.Ile1557fs)
|
|
|
|
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)
|
rs766438805
|
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
|
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
|
|
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
|
NM_000051.4(ATM):c.468del (p.Trp156fs)
|
rs2079245902
|
|
|
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
|
|
|
|
NM_000051.4(ATM):c.4698dup (p.Asp1567Ter)
|
|
|
|
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
|
|
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
|
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
|
|
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
|
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
|
|
|
|
NM_000051.4(ATM):c.4741del (p.Ile1581fs)
|
rs864622164
|
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
|
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
|
|
|
|
NM_000051.4(ATM):c.475del (p.Ile159fs)
|
rs1555059464
|
|
|
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)
|
rs1591677757
|
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4777-2A>C
|
|
|
|
NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)
|
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
|
NM_000051.4(ATM):c.4796C>A (p.Ser1599Ter)
|
|
|
|
NM_000051.4(ATM):c.4799dup (p.Ser1601fs)
|
rs2135834235
|
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
|
NM_000051.4(ATM):c.4808_4809del (p.Val1602_Tyr1603insTer)
|
|
|
|
NM_000051.4(ATM):c.480_484del (p.Gln161fs)
|
|
|
|
NM_000051.4(ATM):c.4823T>A (p.Leu1608Ter)
|
|
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
|
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
|
|
|
|
NM_000051.4(ATM):c.4864del (p.Glu1622fs)
|
rs2083042256
|
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
|
NM_000051.4(ATM):c.4909+1del
|
|
|
|
NM_000051.4(ATM):c.4909+2T>C
|
|
|
|
NM_000051.4(ATM):c.4918dup (p.Gln1640fs)
|
|
|
|
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
|
|
|
|
NM_000051.4(ATM):c.4929del (p.Met1644fs)
|
rs2083175858
|
|
|
NM_000051.4(ATM):c.492G>A (p.Trp164Ter)
|
rs1555059530
|
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
|
NM_000051.4(ATM):c.4955del (p.Leu1652fs)
|
|
|
|
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
|
|
|
|
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
|
|
|
|
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
|
|
|
|
NM_000051.4(ATM):c.5001del (p.Val1667_Leu1668insTer)
|
|
|
|
NM_000051.4(ATM):c.5013del (p.Gly1672fs)
|
|
|
|
NM_000051.4(ATM):c.5015_5018del (p.Gly1672fs)
|
|
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
|
NM_000051.4(ATM):c.5091_5094delinsAA (p.Lys1698fs)
|
|
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
|
NM_000051.4(ATM):c.50_51del (p.His17fs)
|
rs775561876
|
|
|
NM_000051.4(ATM):c.5100del (p.Lys1701fs)
|
|
|
|
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)
|
rs1591499665
|
|
|
NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)
|
|
|
|
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
|
|
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
|
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)
|
rs886039627
|
|
|
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
|
|
|
|
NM_000051.4(ATM):c.5216del (p.Asn1739fs)
|
|
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
|
NM_000051.4(ATM):c.5250G>A (p.Trp1750Ter)
|
|
|
|
NM_000051.4(ATM):c.5272_5273del (p.Asp1758fs)
|
|
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
|
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)
|
rs2135914733
|
|
|
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
|
|
|
|
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
|
|
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
|
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
|
|
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
|
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
|
|
|
|
NM_000051.4(ATM):c.5344A>T (p.Lys1782Ter)
|
|
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
|
NM_000051.4(ATM):c.5347G>T (p.Glu1783Ter)
|
|
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
|
NM_000051.4(ATM):c.5358_5377dup (p.Asn1793delinsMetLysAlaTrpMetIleTer)
|
|
|
|
NM_000051.4(ATM):c.5372dup (p.Asp1791fs)
|
|
|
|
NM_000051.4(ATM):c.5374_5385delinsTCCTCTAAGTGA (p.Ile1792_Trp1795delinsSerSerLysTer)
|
|
|
|
NM_000051.4(ATM):c.5381del (p.Leu1794fs)
|
|
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
|
NM_000051.4(ATM):c.5402dup (p.Asn1801fs)
|
rs1555106438
|
|
|
NM_000051.4(ATM):c.5403_5413del (p.Asn1801fs)
|
|
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
|
NM_000051.4(ATM):c.5415_5416insTCCT (p.Ile1806fs)
|
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
|
NM_000051.4(ATM):c.5425del (p.Thr1808_Leu1809insTer)
|
|
|
|
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs)
|
rs2135929688
|
|
|
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
|
|
|
|
NM_000051.4(ATM):c.5441del (p.Leu1814fs)
|
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
|
NM_000051.4(ATM):c.5447_5468del (p.Ser1816fs)
|
|
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
|
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
|
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
|
|
|
|
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)
|
rs1555106553
|
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
|
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
|
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
|
NM_000051.4(ATM):c.552_553del (p.Arg184fs)
|
|
|
|
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)
|
rs2135943149
|
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
|
NM_000051.4(ATM):c.5550dup (p.Leu1851fs)
|
|
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
|
NM_000051.4(ATM):c.5554_5557delinsTAAA (p.Gln1852_Asp1853delinsTer)
|
|
|
|
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)
|
rs1555107356
|
|
|
NM_000051.4(ATM):c.5568dup (p.Ser1857fs)
|
|
|
|
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter)
|
rs2135944016
|
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
|
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
|
|
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
|
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)
|
rs1064793031
|
|
|
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
|
|
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
|
NM_000051.4(ATM):c.5632del (p.Ser1878fs)
|
|
|
|
NM_000051.4(ATM):c.5633C>A (p.Ser1878Ter)
|
|
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
|
NM_000051.4(ATM):c.5650del (p.Thr1884fs)
|
|
|
|
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)
|
rs587778077
|
|
|
NM_000051.4(ATM):c.5657del (p.Pro1886fs)
|
rs2135946188
|
|
|
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
|
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
|
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
|
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
|
NM_000051.4(ATM):c.5698del (p.Cys1900fs)
|
|
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
|
|
|
NM_000051.4(ATM):c.5707A>T (p.Lys1903Ter)
|
|
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
|
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs)
|
rs1565486174
|
|
|
NM_000051.4(ATM):c.5736del (p.Val1913fs)
|
|
|
|
NM_000051.4(ATM):c.573dup (p.His192fs)
|
|
|
|
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs)
|
rs1555109177
|
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
|
NM_000051.4(ATM):c.5770del (p.Ser1924fs)
|
|
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
|
NM_000051.4(ATM):c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (p.Thr1926delinsArgSerSerLeuAspLeuTer)
|
|
|
|
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)
|
rs1131691254
|
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
|
NM_000051.4(ATM):c.5800_5803delinsATA (p.Leu1934fs)
|
|
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
|
NM_000051.4(ATM):c.5878del (p.Ile1960fs)
|
|
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
|
NM_000051.4(ATM):c.5917del (p.Arg1973fs)
|
|
|
|
NM_000051.4(ATM):c.5931del (p.Phe1977fs)
|
rs1565493368
|
|
|
NM_000051.4(ATM):c.5934del (p.Glu1979fs)
|
|
|
|
NM_000051.4(ATM):c.5937_5938delinsGT (p.Gly1980Ter)
|
|
|
|
NM_000051.4(ATM):c.5938_5939delinsA (p.Gly1980fs)
|
|
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
|
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
|
|
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
|
NM_000051.4(ATM):c.5982dup (p.Glu1995fs)
|
rs1555111855
|
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
|
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
|
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
|
|
|
|
NM_000051.4(ATM):c.6022del (p.Ile2008fs)
|
|
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
|
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
|
NM_000051.4(ATM):c.6055dup (p.Tyr2019fs)
|
|
|
|
NM_000051.4(ATM):c.6060_6064dup (p.Gly2022fs)
|
|
|
|
NM_000051.4(ATM):c.6063_6064insA (p.Gly2022fs)
|
|
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
|
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
|
|
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)
|
rs3092826
|
|
|
NM_000051.4(ATM):c.610G>T (p.Gly204Ter)
|
rs147915571
|
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
|
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
|
|
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
|
NM_000051.4(ATM):c.6147T>G (p.Tyr2049Ter)
|
|
|
|
NM_000051.4(ATM):c.614T>A (p.Leu205Ter)
|
|
|
|
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
|
|
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
|
NM_000051.4(ATM):c.6173del (p.Ser2057_Ser2058insTer)
|
|
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
|
NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)
|
|
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
|
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
|
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.6199-1G>T
|
rs1591788932
|
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
|
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)
|
rs1591789046
|
|
|
NM_000051.4(ATM):c.6215del (p.Gly2072fs)
|
rs2084775383
|
|
|
NM_000051.4(ATM):c.621del (p.Lys208fs)
|
rs2079706212
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
|
NM_000051.4(ATM):c.6246del (p.Gly2083fs)
|
|
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
|
NM_000051.4(ATM):c.6284_6290dup (p.Glu2097fs)
|
|
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
|
NM_000051.4(ATM):c.62_63del (p.Thr21fs)
|
|
|
|
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
|
NM_000051.4(ATM):c.6319dup (p.Met2107fs)
|
|
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
|
NM_000051.4(ATM):c.6335del (p.Cys2112fs)
|
|
|
|
NM_000051.4(ATM):c.6352G>T (p.Glu2118Ter)
|
|
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
|
NM_000051.4(ATM):c.6371_6373delinsT (p.Tyr2124fs)
|
|
|
|
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
|
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
|
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
|
rs2085081161
|
|
|
NM_000051.4(ATM):c.6387_6388dup (p.Asn2130fs)
|
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
|
NM_000051.4(ATM):c.6399dup (p.Ser2134fs)
|
rs1555116451
|
|
|
NM_000051.4(ATM):c.639_640del (p.Ser214fs)
|
|
|
|
NM_000051.4(ATM):c.6401_6404del (p.Gln2133_Ser2134insTer)
|
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
|
NM_000051.4(ATM):c.6405_6407delinsC (p.Asp2137fs)
|
|
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.640dup (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
|
NM_000051.4(ATM):c.6441del (p.Lys2148fs)
|
|
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
|
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs)
|
rs1060501707
|
|
|
NM_000051.4(ATM):c.650_653del (p.Ile217fs)
|
|
|
|
NM_000051.4(ATM):c.6513del (p.Thr2172fs)
|
|
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
|
NM_000051.4(ATM):c.6527del (p.Leu2176fs)
|
rs2136241341
|
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
|
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
|
|
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
|
NM_000051.4(ATM):c.6614G>A (p.Trp2205Ter)
|
|
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
|
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
|
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
|
NM_000051.4(ATM):c.6638del (p.Lys2213fs)
|
|
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
|
NM_000051.4(ATM):c.6651dup (p.Ser2218Ter)
|
|
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
|
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
|
|
|
|
NM_000051.4(ATM):c.6667_6701del (p.Ile2223fs)
|
|
|
|
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
|
|
|
|
NM_000051.4(ATM):c.6673dup (p.Ala2225fs)
|
rs587781872
|
|
|
NM_000051.4(ATM):c.6684dup (p.Val2229fs)
|
|
|
|
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
|
|
|
|
NM_000051.4(ATM):c.669_673del (p.Lys224fs)
|
|
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
|
NM_000051.4(ATM):c.6718del (p.Asp2240fs)
|
|
|
|
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
|
rs1565518711
|
|
|
NM_000051.4(ATM):c.6730dup (p.Arg2244fs)
|
rs1060501543
|
|
|
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
|
|
|
|
NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)
|
|
|
|
NM_000051.4(ATM):c.6743del (p.Lys2248fs)
|
|
|
|
NM_000051.4(ATM):c.6747del (p.Asp2249fs)
|
|
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
|
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)
|
rs2085584895
|
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
|
NM_000051.4(ATM):c.6834_6838del (p.Lys2279fs)
|
|
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
|
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs)
|
rs2135237416
|
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
|
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
|
|
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
|
NM_000051.4(ATM):c.6874C>T (p.Gln2292Ter)
|
|
|
|
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
|
|
|
|
NM_000051.4(ATM):c.6886del (p.Ala2296fs)
|
|
|
|
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
|
|
|
|
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
|
|
|
|
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
|
|
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
|
NM_000051.4(ATM):c.6900G>A (p.Trp2300Ter)
|
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
|
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
|
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
|
NM_000051.4(ATM):c.7013dup (p.Arg2339fs)
|
|
|
|
NM_000051.4(ATM):c.7015_7031del (p.Arg2339fs)
|
|
|
|
NM_000051.4(ATM):c.7030_7043del (p.Trp2344fs)
|
|
|
|
NM_000051.4(ATM):c.7031G>A (p.Trp2344Ter)
|
|
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
|
NM_000051.4(ATM):c.7069_7081del (p.Ile2356_Met2357insTer)
|
|
|
|
NM_000051.4(ATM):c.706_707del (p.Leu236fs)
|
|
|
|
NM_000051.4(ATM):c.706dup (p.Leu236fs)
|
rs2135238203
|
|
|
NM_000051.4(ATM):c.7076_7085del (p.Thr2359fs)
|
|
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
|
NM_000051.4(ATM):c.7089+1_7089+38del
|
rs2085827807
|
|
|
NM_000051.4(ATM):c.708del (p.Thr237fs)
|
rs1555067034
|
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
|
NM_000051.4(ATM):c.7115del (p.Asp2372fs)
|
|
|
|
NM_000051.4(ATM):c.7152_7159del (p.Met2384fs)
|
|
|
|
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)
|
rs1591150887
|
|
|
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)
|
rs1018140779
|
|
|
NM_000051.4(ATM):c.7169T>A (p.Leu2390Ter)
|
|
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
|
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)
|
rs2085985186
|
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
|
NM_000051.4(ATM):c.7221del (p.Ser2408fs)
|
|
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
|
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)
|
rs1591152021
|
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
|
NM_000051.4(ATM):c.7297del (p.Gln2433fs)
|
rs2136423753
|
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
|
NM_000051.4(ATM):c.7299del (p.Thr2434fs)
|
|
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
|
NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter)
|
|
|
|
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)
|
rs1591159614
|
|
|
NM_000051.4(ATM):c.7318A>T (p.Lys2440Ter)
|
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
|
NM_000051.4(ATM):c.7331_7332del (p.Glu2444fs)
|
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
|
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
|
|
|
|
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
|
|
|
|
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
|
|
|
|
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs)
|
rs1064794690
|
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
|
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
|
|
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
|
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)
|
rs1224883896
|
|
|
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
|
|
|
|
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
|
|
|
|
NM_000051.4(ATM):c.7457_7467del (p.Arg2486fs)
|
|
|
|
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)
|
rs786203734
|
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
|
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)
|
rs2136463344
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter)
|
rs777925486
|
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
|
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
|
|
|
|
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)
|
rs772228129
|
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
|
NM_000051.4(ATM):c.7575dup (p.Arg2526Ter)
|
|
|
|
NM_000051.4(ATM):c.7584del (p.Thr2529fs)
|
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
|
NM_000051.4(ATM):c.7608del (p.His2538fs)
|
rs1565532554
|
|
|
NM_000051.4(ATM):c.7626del (p.Asn2542fs)
|
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
|
NM_000051.4(ATM):c.7630-1G>C
|
|
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
|
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
|
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
|
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
|
rs2086293039
|
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
|
NM_000051.4(ATM):c.7684_7685del (p.Ala2562fs)
|
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
|
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
|
NM_000051.4(ATM):c.7720_7729del (p.Thr2573_Lys2574insTer)
|
|
|
|
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs)
|
rs2086308364
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
|
NM_000051.4(ATM):c.777del (p.Thr261fs)
|
|
|
|
NM_000051.4(ATM):c.7788+1G>C
|
rs1565534524
|
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
|
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
|
|
|
|
NM_000051.4(ATM):c.7799_7800del (p.Glu2600fs)
|
|
|
|
NM_000051.4(ATM):c.7811_7815dup (p.Ile2606delinsGluTer)
|
|
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
|
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs)
|
rs1591178362
|
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
|
NM_000051.4(ATM):c.7845_7846del (p.Gln2615fs)
|
|
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
|
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)
|
rs1591178998
|
|
|
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
|
|
|
|
NM_000051.4(ATM):c.7903dup (p.Ala2635fs)
|
|
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
|
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)
|
rs2136572656
|
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
|
NM_000051.4(ATM):c.7925_7926del (p.Arg2642fs)
|
|
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
|
NM_000051.4(ATM):c.7929delA (p.Gly2644fs)
|
rs1064795550
|
|
|
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
|
|
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
|
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
|
rs2086675006
|
|
|
NM_000051.4(ATM):c.8051del (p.Gln2684fs)
|
|
|
|
NM_000051.4(ATM):c.8051dup (p.Ser2685fs)
|
rs1591191449
|
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
|
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
|
|
|
|
NM_000051.4(ATM):c.805dup (p.His269fs)
|
|
|
|
NM_000051.4(ATM):c.8076dup (p.Ala2693fs)
|
rs1555127151
|
|
|
NM_000051.4(ATM):c.807dup (p.Arg270Ter)
|
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
|
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
|
|
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
|
NM_000051.4(ATM):c.8225del (p.Asn2742fs)
|
|
|
|
NM_000051.4(ATM):c.8230_8231delinsT (p.Thr2743_Glu2744insTer)
|
|
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
|
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
|
|
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
|
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)
|
rs786202120
|
|
|
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
|
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
|
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
|
|
|
|
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
|
|
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
|
NM_000051.4(ATM):c.8332G>T (p.Glu2778Ter)
|
|
|
|
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
|
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
|
|
|
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
|
|
|
|
NM_000051.4(ATM):c.8387_8397del (p.Phe2796fs)
|
|
|
|
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
|
|
|
|
NM_000051.4(ATM):c.8394_8396delinsTGATA (p.Phe2799fs)
|
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
|
NM_000051.4(ATM):c.8408del (p.Lys2803fs)
|
rs1591249359
|
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
|
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
|
|
|
|
NM_000051.4(ATM):c.8440del (p.Glu2814fs)
|
rs752526400
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
|
NM_000051.4(ATM):c.8457del (p.Phe2820fs)
|
|
|
|
NM_000051.4(ATM):c.8466_8479delinsC (p.Val2823fs)
|
|
|
|
NM_000051.4(ATM):c.8472C>A (p.Cys2824Ter)
|
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
|
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs)
|
rs2137028850
|
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
|
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
|
|
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
|
NM_000051.4(ATM):c.8492del (p.Phe2831fs)
|
|
|
|
NM_000051.4(ATM):c.8504dup (p.Cys2835fs)
|
rs2137031805
|
|
|
NM_000051.4(ATM):c.8508delinsTTT (p.Met2836fs)
|
|
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
|
NM_000051.4(ATM):c.8517_8518del (p.Leu2840fs)
|
|
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
|
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
|
|
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
|
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
|
NM_000051.4(ATM):c.8585-1G>A
|
rs876660066
|
|
|
NM_000051.4(ATM):c.8585-1G>C
|
|
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
|
NM_000051.4(ATM):c.8622_8624delinsTT (p.Gln2874fs)
|
|
|
|
NM_000051.4(ATM):c.8624del (p.Asn2875fs)
|
|
|
|
NM_000051.4(ATM):c.8624dup (p.Asn2875fs)
|
rs876660411
|
|
|
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
|
|
|
|
NM_000051.4(ATM):c.8630T>A (p.Leu2877Ter)
|
|
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
|
NM_000051.4(ATM):c.8659_8662del (p.Val2886_His2887insTer)
|
|
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
|
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)
|
rs2137286457
|
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
|
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
|
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
|
NM_000051.4(ATM):c.8764_8768delinsTGTC (p.Gly2922fs)
|
|
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
|
NM_000051.4(ATM):c.879del (p.Gly294fs)
|
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
|
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
|
rs2089695236
|
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
|
NM_000051.4(ATM):c.8834dup (p.Leu2946fs)
|
|
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
|
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
|
rs2091198449
|
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
|
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)
|
rs864622669
|
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
|
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)
|
rs1555151315
|
|
|
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
|
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
|
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter)
|
rs2091208125
|
|
|
NM_000051.4(ATM):c.8923del (p.Glu2975fs)
|
rs2137879945
|
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
|
NM_000051.4(ATM):c.8940dup (p.His2981fs)
|
|
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
|
NM_000051.4(ATM):c.8968G>T (p.Glu2990Ter)
|
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
|
NM_000051.4(ATM):c.9005del (p.Phe3002fs)
|
rs876659235
|
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
|
NM_000051.4(ATM):c.900dup (p.Gly301fs)
|
rs1555067335
|
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
|
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)
|
rs1555151827
|
|
|
NM_000051.4(ATM):c.9051del (p.Gly3019fs)
|
|
|
|
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
|
rs2091244384
|
|
|
NM_000051.4(ATM):c.9073del (p.Val3025fs)
|
rs1555151928
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
|
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)
|
rs1555152009
|
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
|
NM_000051.4(ATM):c.929del (p.Ser310fs)
|
rs1591510597
|
|
|
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
|
|
|
|
NM_000051.4(ATM):c.944del (p.Leu315fs)
|
rs1565375035
|
|
|
NM_000051.4(ATM):c.945dup (p.Tyr316fs)
|
rs2135265770
|
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
|
NM_000051.4(ATM):c.979G>T (p.Gly327Ter)
|
|
|
|
NM_000051.4(ATM):c.988G>T (p.Gly330Ter)
|
|
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
|
NM_000051.4(ATM):c.995_996del (p.Tyr332fs)
|
|
|
|
NM_000051.4:c.(2838_2839)_(5674_5675)del
|
|
|
|
NM_000051.4:c.919_920insAlu
|
|
|
|
NM_000057.4(BLM):c.3254dup (p.Arg1086fs)
|
|
|
|
NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)
|
rs879255323
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs)
|
rs879255331
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
|
NM_000059.3:c.3847_3848delTG
|
rs80359405
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
|
NM_000059.4(BRCA2):c.1013del (p.Ala338fs)
|
rs2137466855
|
|
|
NM_000059.4(BRCA2):c.10248del (p.Lys3416fs)
|
rs776212316
|
|
|
NM_000059.4(BRCA2):c.1029del (p.Lys343fs)
|
rs80359260
|
|
|
NM_000059.4(BRCA2):c.1053del (p.Lys351fs)
|
rs886040342
|
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
|
NM_000059.4(BRCA2):c.1057del (p.Ser353fs)
|
rs879255322
|
|
|
NM_000059.4(BRCA2):c.1059del (p.Phe354fs)
|
rs1555281715
|
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
|
NM_000059.4(BRCA2):c.1138del (p.Ser380fs)
|
rs80359264
|
|
|
NM_000059.4(BRCA2):c.1147del (p.Ile383fs)
|
rs80359265
|
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
|
NM_000059.4(BRCA2):c.1190_1191insTTAG (p.Gln397delinsHisTer)
|
rs80359266
|
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
|
NM_000059.4(BRCA2):c.1265del (p.Asn422fs)
|
rs80359273
|
|
|
NM_000059.4(BRCA2):c.1282del (p.Leu428fs)
|
rs2137469532
|
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
|
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)
|
rs2072410817
|
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
|
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)
|
rs80358429
|
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs)
|
rs80359285
|
|
|
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter)
|
rs2137472200
|
|
|
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)
|
rs80358438
|
|
|
NM_000059.4(BRCA2):c.1561del (p.Ser521fs)
|
rs886040374
|
|
|
NM_000059.4(BRCA2):c.1654del (p.Ser552fs)
|
rs80359297
|
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1705_1706del (p.Gln569fs)
|
rs886040383
|
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
|
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)
|
rs397507604
|
|
|
NM_000059.4(BRCA2):c.1754del (p.Lys585fs)
|
rs80359301
|
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
|
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)
|
rs80359303
|
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
|
NM_000059.4(BRCA2):c.1805del (p.Gly602fs)
|
rs397507608
|
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
|
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.1821dup (p.Asp608fs)
|
rs879255327
|
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
|
NM_000059.4(BRCA2):c.1989del (p.Phe663fs)
|
rs886038068
|
|
|
NM_000059.4(BRCA2):c.2034_2038del (p.Asn679fs)
|
rs879255440
|
|
|
NM_000059.4(BRCA2):c.204del (p.Lys68fs)
|
rs80359320
|
|
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
rs878853559
|
|
|
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)
|
rs886040403
|
|
|
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
|
rs80359324
|
|
|
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)
|
rs886040405
|
|
|
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)
|
rs535547513
|
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
|
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)
|
rs80359325
|
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)
|
rs886040416
|
|
|
NM_000059.4(BRCA2):c.2287del (p.His763fs)
|
rs80359327
|
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
rs80358503
|
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
|
NM_000059.4(BRCA2):c.2402_2420del (p.Asn801fs)
|
rs886040923
|
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
|
NM_000059.4(BRCA2):c.2442del (p.Met815fs)
|
rs397507627
|
|
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
rs397507631
|
|
|
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)
|
rs886040427
|
|
|
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)
|
rs397507286
|
|
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
rs80358515
|
|
|
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
|
rs80358516
|
|
|
NM_000059.4(BRCA2):c.2517del (p.Lys838_Tyr839insTer)
|
|
|
|
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)
|
rs80358518
|
|
|
NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs)
|
rs2137487619
|
|
|
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
|
NM_000059.4(BRCA2):c.2588del (p.Asn863fs)
|
rs80359335
|
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
|
NM_000059.4(BRCA2):c.2603del (p.Thr868fs)
|
rs276174824
|
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)
|
rs398122749
|
|
|
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)
|
rs876658648
|
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
|
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)
|
rs80358532
|
|
|
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs)
|
rs80359355
|
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
|
NM_000059.4(BRCA2):c.2899_2900del (p.Leu967fs)
|
rs80359361
|
|
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
rs397507646
|
|
|
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)
|
rs397507648
|
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
|
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)
|
rs886040456
|
|
|
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter)
|
rs80358543
|
|
|
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)
|
rs80358544
|
|
|
NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)
|
rs397507650
|
|
|
NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter)
|
rs886040458
|
|
|
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer)
|
rs80359369
|
|
|
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs)
|
rs2137492902
|
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
|
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)
|
rs1060502449
|
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
rs80358561
|
|
|
NM_000059.4(BRCA2):c.3157_3163del (p.Leu1053fs)
|
rs1593898717
|
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
|
NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs)
|
rs1566227892
|
|
|
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)
|
rs79728106
|
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
rs876657678
|
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
|
NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter)
|
rs690016539
|
|
|
NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter)
|
rs690016540
|
|
|
NM_000059.4(BRCA2):c.3293del (p.Asn1098fs)
|
rs690016541
|
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
|
NM_000059.4(BRCA2):c.3451_3452del (p.Ile1151fs)
|
rs886040475
|
|
|
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)
|
rs80358593
|
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
|
NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)
|
rs1555283256
|
|
|
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)
|
rs80359387
|
|
|
NM_000059.4(BRCA2):c.3530_3533del (p.Asp1177fs)
|
rs886040481
|
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
|
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs)
|
rs2137498577
|
|
|
NM_000059.4(BRCA2):c.3641del (p.Val1214fs)
|
rs690016542
|
|
|
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs)
|
rs397507678
|
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
|
NM_000059.4(BRCA2):c.36del (p.Phe12fs)
|
rs80359393
|
|
|
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)
|
rs34575057
|
|
|
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs)
|
rs80359401
|
|
|
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)
|
rs80359401
|
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
|
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)
|
|
|
|
NM_000059.4(BRCA2):c.3812C>A (p.Ser1271Ter)
|
rs80358623
|
|
|
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)
|
rs80358623
|
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
|
NM_000059.4(BRCA2):c.3837del (p.Asn1279fs)
|
rs80359404
|
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
|
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs)
|
rs2137501910
|
|
|
NM_000059.4(BRCA2):c.3del (p.Met1fs)
|
rs80359418
|
|
|
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)
|
rs886040509
|
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
rs80358658
|
|
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
rs80358659
|
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
|
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)
|
rs1555280869
|
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
|
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)
|
rs41293489
|
|
|
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)
|
rs398122777
|
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
|
NM_000059.4(BRCA2):c.4223del (p.Gln1408fs)
|
rs397507712
|
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
|
NM_000059.4(BRCA2):c.4277del (p.Thr1426fs)
|
rs730881608
|
|
|
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)
|
rs80358665
|
|
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
rs80358670
|
|
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
rs876659847
|
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
|
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)
|
rs397507717
|
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
|
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)
|
rs397507718
|
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
|
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)
|
rs80359451
|
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
|
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
rs80358683
|
|
|
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)
|
rs397507725
|
|
|
NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs)
|
rs1064793413
|
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
|
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)
|
rs397507731
|
|
|
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)
|
rs869320783
|
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
|
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)
|
rs80359460
|
|
|
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)
|
rs876658654
|
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
|
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)
|
rs397507734
|
|
|
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)
|
rs876661062
|
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
|
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
|
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs)
|
rs864622401
|
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
|
NM_000059.4(BRCA2):c.4769del (p.Lys1590fs)
|
rs879255328
|
|
|
NM_000059.4(BRCA2):c.4790del (p.Ser1597fs)
|
rs2137510249
|
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
|
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)
|
rs587782854
|
|
|
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs)
|
rs80359468
|
|
|
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)
|
rs397507746
|
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
|
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)
|
rs80358711
|
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
|
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)
|
rs398122789
|
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
|
NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter)
|
rs886040559
|
|
|
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)
|
rs397507753
|
|
|
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)
|
rs1555284032
|
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
|
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs)
|
rs80359478
|
|
|
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter)
|
rs1555284044
|
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
|
NM_000059.4(BRCA2):c.5154_5158del (p.Asn1719fs)
|
rs886040570
|
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
|
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)
|
rs397507765
|
|
|
NM_000059.4(BRCA2):c.517-1G>A
|
rs81002849
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
|
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)
|
rs587779363
|
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
|
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)
|
rs886040578
|
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
|
NM_000059.4(BRCA2):c.5217_5224delTTTAAGTA
|
rs80359497
|
|
|
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)
|
rs80359498
|
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
|
NM_000059.4(BRCA2):c.5242del (p.Ser1748fs)
|
rs2137515525
|
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
rs80358751
|
|
|
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer)
|
rs2137515902
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
|
NM_000059.4(BRCA2):c.5297del (p.Asn1766fs)
|
rs1555284157
|
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5362del (p.Ser1788fs)
|
rs587781849
|
|
|
NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs)
|
rs587779364
|
|
|
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)
|
rs587782598
|
|
|
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)
|
rs80358763
|
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
|
NM_000059.4(BRCA2):c.5465dup (p.Asn1822fs)
|
rs1555284237
|
|
|
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter)
|
rs276174858
|
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
|
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)
|
rs587782011
|
|
|
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)
|
rs397507787
|
|
|
NM_000059.4(BRCA2):c.5566_5567inv (p.His1856Cys)
|
|
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
|
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs)
|
rs80359523
|
|
|
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs)
|
rs80359524
|
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
|
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)
|
rs80358783
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
|
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)
|
rs55996097
|
|
|
NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs)
|
rs1555284326
|
|
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
rs80358790
|
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
|
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)
|
rs398122539
|
|
|
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)
|
rs397507797
|
|
|
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs)
|
rs80359528
|
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
|
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)
|
rs397507803
|
|
|
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)
|
rs80359534
|
|
|
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs)
|
rs80359535
|
|
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
rs80358806
|
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
|
NM_000059.4(BRCA2):c.5807del (p.Met1936fs)
|
rs1555284404
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.5823del (p.Val1942fs)
|
rs80359540
|
|
|
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)
|
rs886038053
|
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
|
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)
|
rs80358815
|
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
|
NM_000059.4(BRCA2):c.5934del (p.Phe1978fs)
|
rs80359548
|
|
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
rs80358831
|
|
|
NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs)
|
rs886038136
|
|
|
NM_000059.4(BRCA2):c.6011_6017del (p.Glu2004fs)
|
rs397507362
|
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
|
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)
|
rs80358838
|
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
|
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
|
NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs)
|
rs587782717
|
|
|
NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs)
|
rs397507829
|
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
rs786202461
|
|
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
rs80358859
|
|
|
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)
|
rs276174866
|
|
|
NM_000059.4(BRCA2):c.6224_6225del (p.Lys2075fs)
|
|
|
|
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
|
rs2072549980
|
|
|
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs)
|
rs1064794647
|
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
|
NM_000059.4(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer)
|
rs730881611
|
|
|
NM_000059.4(BRCA2):c.6269del (p.His2090fs)
|
rs1375058950
|
|
|
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)
|
rs397507839
|
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
|
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)
|
rs587781470
|
|
|
NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)
|
rs397507369
|
|
|
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs)
|
rs80359576
|
|
|
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)
|
rs80359575
|
|
|
NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs)
|
rs886038144
|
|
|
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)
|
rs80359577
|
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
|
NM_000059.4(BRCA2):c.6410del (p.Asn2137fs)
|
rs886038146
|
|
|
NM_000059.4(BRCA2):c.6420_6421insA (p.Gly2141fs)
|
rs397507852
|
|
|
NM_000059.4(BRCA2):c.643del (p.Glu215fs)
|
rs2137458206
|
|
|
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)
|
rs80359590
|
|
|
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)
|
rs80359592
|
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
|
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs)
|
rs397507858
|
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter)
|
rs397507859
|
|
|
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)
|
rs886040658
|
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
|
NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)
|
rs80359600
|
|
|
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)
|
rs397507865
|
|
|
NM_000059.4(BRCA2):c.6531dup (p.His2178fs)
|
rs886040664
|
|
|
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)
|
rs80359601
|
|
|
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)
|
rs397507866
|
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
|
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs)
|
rs1566234955
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
|
NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs)
|
rs1593909229
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
|
NM_000059.4(BRCA2):c.6622_6623del (p.Asn2208fs)
|
|
|
|
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)
|
rs80359609
|
|
|
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs)
|
rs397507871
|
|
|
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
|
rs80359613
|
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
|
NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter)
|
rs80359615
|
|
|
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)
|
rs80358892
|
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
|
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)
|
rs878853301
|
|
|
NM_000059.4(BRCA2):c.67+1G>A
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)
|
rs276174876
|
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
|
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs)
|
rs80359623
|
|
|
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs)
|
rs80359624
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
|
NM_000059.4(BRCA2):c.682-1G>T
|
rs81002831
|
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
|
NM_000059.4(BRCA2):c.684del (p.Asn228fs)
|
rs2137461104
|
|
|
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)
|
rs80358913
|
|
|
NM_000059.4(BRCA2):c.6916_6917insA (p.Ala2306fs)
|
|
|
|
NM_000059.4(BRCA2):c.691_692delinsGA (p.Ser231Asp)
|
rs2072384735
|
|
|
NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)
|
rs80359628
|
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs)
|
rs80359631
|
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7008-2A>G
|
rs81002823
|
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
|
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)
|
rs80358936
|
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
|
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs)
|
rs276174890
|
|
|
NM_000059.4(BRCA2):c.715del (p.Ser239fs)
|
rs431825350
|
|
|
NM_000059.4(BRCA2):c.716del (p.Ser239fs)
|
|
|
|
NM_000059.4(BRCA2):c.7177del (p.Lys2392_Met2393insTer)
|
rs397507899
|
|
|
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)
|
rs397507903
|
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
|
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)
|
rs876659770
|
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
|
NM_000059.4(BRCA2):c.7254_7255del (p.Arg2418fs)
|
rs80359644
|
|
|
NM_000059.4(BRCA2):c.728del (p.Asn243fs)
|
rs886040697
|
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
|
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs)
|
rs80359647
|
|
|
NM_000059.4(BRCA2):c.7380_7381insG (p.Asn2461fs)
|
rs730881612
|
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
|
NM_000059.4(BRCA2):c.7415dup (p.Cys2473fs)
|
rs80359650
|
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
|
NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)
|
rs80359654
|
|
|
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)
|
rs80359657
|
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
|
NM_000059.4(BRCA2):c.7632_7633del (p.Val2545fs)
|
rs2137566201
|
|
|
NM_000059.4(BRCA2):c.7667del (p.Asn2556fs)
|
rs878853303
|
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
|
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)
|
rs80359673
|
|
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
rs80358994
|
|
|
NM_000059.4(BRCA2):c.7689del (p.His2563fs)
|
rs80359674
|
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
|
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)
|
rs80358997
|
|
|
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)
|
rs1060502433
|
|
|
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)
|
rs75096777
|
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
|
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)
|
rs1135401919
|
|
|
NM_000059.4(BRCA2):c.7805+1G>A
|
rs81002809
|
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)
|
rs587781506
|
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
|
NM_000059.4(BRCA2):c.787dup (p.Ser263fs)
|
rs690016538
|
|
|
NM_000059.4(BRCA2):c.7900del (p.Met2634fs)
|
rs1566244864
|
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
|
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)
|
rs80359025
|
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
|
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)
|
rs730881614
|
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
|
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)
|
rs276174900
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
|
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs)
|
rs397507958
|
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
|
NM_000059.4(BRCA2):c.8070_8071dup (p.Ser2691fs)
|
rs397507962
|
|
|
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
|
rs80359050
|
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
rs397507965
|
|
|
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)
|
rs80359701
|
|
|
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)
|
rs80359704
|
|
|
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs)
|
rs398122601
|
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
|
rs276174907
|
|
|
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs)
|
rs80359709
|
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
|
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)
|
rs587776351
|
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
|
NM_000059.4(BRCA2):c.8548del (p.Glu2850fs)
|
rs1555287766
|
|
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
rs80359115
|
|
|
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)
|
rs1131692035
|
|
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
rs398122608
|
|
|
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)
|
rs80359721
|
|
|
NM_000059.4(BRCA2):c.8632+2T>C
|
rs397507998
|
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
|
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs)
|
rs886038184
|
|
|
NM_000059.4(BRCA2):c.8639_8643del (p.Thr2880fs)
|
rs2137612282
|
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
|
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)
|
rs2072875960
|
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)
|
rs80359134
|
|
|
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)
|
rs398122715
|
|
|
NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs)
|
rs886040796
|
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
|
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)
|
rs397508017
|
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
|
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)
|
rs869320799
|
|
|
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
|
rs80359144
|
|
|
NM_000059.4(BRCA2):c.8940del (p.Glu2981fs)
|
rs80359732
|
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
|
NM_000059.4(BRCA2):c.8954-1_8955delinsAA
|
rs276174916
|
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
|
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)
|
rs80359148
|
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
|
NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs)
|
rs786203575
|
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
|
NM_000059.4(BRCA2):c.9073_9078del (p.Ile3025_Gln3026del)
|
rs2137623346
|
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter)
|
rs80359163
|
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
|
NM_000059.4(BRCA2):c.9118-1G>C
|
rs886040950
|
|
|
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)
|
rs886040823
|
|
|
NM_000059.4(BRCA2):c.9163del (p.Leu3055fs)
|
rs2072913259
|
|
|
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)
|
rs80359175
|
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
|
NM_000059.4(BRCA2):c.925del (p.Ser309fs)
|
rs886038058
|
|
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
rs80359198
|
|
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
rs80359198
|
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
|
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)
|
rs80359205
|
|
|
NM_000059.4(BRCA2):c.931del (p.Cys311fs)
|
rs2137466012
|
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
|
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)
|
rs80359207
|
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
|
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)
|
rs80359759
|
|
|
NM_000059.4(BRCA2):c.9409dup (p.Thr3137fs)
|
|
|
|
NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)
|
rs80359762
|
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
rs80359234
|
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
|
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)
|
rs80359774
|
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
|
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)
|
rs886040849
|
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
|
NM_000059.4(BRCA2):c.998dup (p.His334fs)
|
rs397507437
|
|
|
NM_000059.4:c.5007_5008insAlu
|
|
|
|
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter)
|
rs121913388
|
|
|
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)
|
rs121913389
|
|
|
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
|
rs121917902
|
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
|
NM_000142.5(FGFR3):c.850del (p.His284fs)
|
rs587776836
|
|
|
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys)
|
rs121913111
|
|
|
NM_000179.3(MSH6):c.-2_260+3387del
|
|
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
|
NM_000179.3(MSH6):c.1089dup (p.Val364fs)
|
rs2104318953
|
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
|
NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs)
|
rs1572722039
|
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
|
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)
|
rs1114167750
|
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
|
NM_000179.3(MSH6):c.1808dup (p.Glu604fs)
|
rs1553413200
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
|
NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)
|
rs1669384406
|
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
|
NM_000179.3(MSH6):c.1982del (p.Gly661fs)
|
rs2104380327
|
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
|
NM_000179.3(MSH6):c.2059dup (p.Cys687fs)
|
|
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
|
NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)
|
rs1553413693
|
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
|
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
|
NM_000179.3(MSH6):c.3140G>A (p.Trp1047Ter)
|
rs1064794302
|
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
|
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs)
|
rs1384780420
|
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
|
NM_000179.3(MSH6):c.3439-2_3556+1del
|
rs2104503689
|
|
|
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs)
|
rs2104504931
|
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
|
NM_000179.3(MSH6):c.3647-2_3991del
|
rs2104536268
|
|
|
NM_000179.3(MSH6):c.3690del (p.Val1231fs)
|
rs730881829
|
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
|
NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)
|
rs2104556388
|
|
|
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)
|
rs1553333584
|
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
|
NM_000179.3(MSH6):c.397_410del (p.Phe133fs)
|
rs786202193
|
|
|
NM_000179.3(MSH6):c.3980_3981delinsTCAG (p.Asn1327fs)
|
rs2104566954
|
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
|
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)
|
rs587782326
|
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
|
NM_000179.3(MSH6):c.3995T>G (p.Leu1332Ter)
|
|
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
|
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)
|
rs63750342
|
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
|
NM_000179.3(MSH6):c.458-2_627+1del
|
rs2104227755
|
|
|
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)
|
rs63751077
|
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
|
NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer)
|
rs1553412064
|
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
|
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
|
rs267608041
|
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
|
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
|
rs267608048
|
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
|
NM_000179.3(MSH6):c.883A>T (p.Lys295Ter)
|
|
|
|
NM_000179.3(MSH6):c.885dup (p.Val296fs)
|
rs1572720704
|
|
|
NM_000179.3(MSH6):c.964_967del (p.Ala322fs)
|
|
|
|
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)
|
rs2104310469
|
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
|
NM_000245.4(MET):c.3028G>A (p.Asp1010Asn)
|
rs1794851612
|
|
|
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)
|
rs121913668
|
|
|
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile)
|
rs121913675
|
|
|
NM_000245.4(MET):c.3562G>T (p.Val1188Leu)
|
rs121913669
|
|
|
NM_000245.4(MET):c.3583C>G (p.Leu1195Val)
|
rs121913673
|
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
|
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)
|
rs121913671
|
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
|
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg)
|
rs121913677
|
|
|
NM_000245.4(MET):c.3750G>A (p.Met1250Ile)
|
rs121913676
|
|
|
NM_000249.4(MLH1):c.1039-2_1409+150del
|
rs2125879653
|
|
|
NM_000249.4(MLH1):c.1039-2_1409+1del
|
rs2125879720
|
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
|
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)
|
rs2125710774
|
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
|
NM_000249.4(MLH1):c.1483dup (p.Thr495fs)
|
|
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
|
NM_000249.4(MLH1):c.1559-2_1667+1del
|
rs2125943381
|
|
|
NM_000249.4(MLH1):c.1559-4_1667+63del
|
rs2125943327
|
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
|
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)
|
rs2125984594
|
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
|
NM_000249.4(MLH1):c.2131dup (p.Ser711fs)
|
rs2148522538
|
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
|
NM_000249.4(MLH1):c.322_335del (p.Ser108fs)
|
rs1553641269
|
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
|
NM_000249.4(MLH1):c.365del (p.Gly122fs)
|
rs2125757477
|
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
|
NM_000249.4(MLH1):c.588+1G>C
|
rs267607772
|
|
|
NM_000249.4(MLH1):c.604del (p.Ala202fs)
|
rs1553644155
|
|
|
NM_000249.4(MLH1):c.631_632del (p.Ser211fs)
|
rs2125808812
|
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
|
NM_000251.3(MSH2):c.-1_211+1177del
|
|
|
|
NM_000251.3(MSH2):c.-2_211+156del
|
rs2103865247
|
|
|
NM_000251.3(MSH2):c.-2_211+1del
|
rs2103865151
|
|
|
NM_000251.3(MSH2):c.-4_211+864del
|
|
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
|
NM_000251.3(MSH2):c.1077-2_1276+1del
|
rs2104435254
|
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
|
NM_000251.3(MSH2):c.1387-2del
|
rs2104082025
|
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
|
NM_000251.3(MSH2):c.1500dup (p.Arg501fs)
|
rs587779094
|
|
|
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs)
|
rs1553366522
|
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
|
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs)
|
rs1553366561
|
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
|
NM_000251.3(MSH2):c.1662-1_1759+1048del
|
|
|
|
NM_000251.3(MSH2):c.1760-3_2005+453del
|
rs2104334736
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
|
NM_000251.3(MSH2):c.2006-2_2210+1del
|
rs2104368001
|
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
|
NM_000251.3(MSH2):c.212-1_366+712del
|
rs2103974925
|
|
|
NM_000251.3(MSH2):c.212-2_366+1del
|
rs2103974901
|
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
|
NM_000251.3(MSH2):c.2444del (p.Tyr815fs)
|
rs2104409719
|
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
|
NM_000251.3(MSH2):c.367-2_645+1del
|
rs2104016560
|
|
|
NM_000251.3(MSH2):c.367-2_645+742del
|
|
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
|
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)
|
rs63750126
|
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
|
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs)
|
rs1553350946
|
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
|
NM_000251.3(MSH2):c.646-1_648del
|
rs1553351549
|
|
|
NM_000251.3(MSH2):c.646-1_792+486del
|
rs2104097954
|
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
|
NM_000251.3(MSH2):c.943-2_1076+1del
|
rs2104242036
|
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
|
NM_000314.8(PTEN):c.1012del (p.Ser338fs)
|
rs1564568660
|
|
|
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)
|
rs773176120
|
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
|
NM_000314.8(PTEN):c.209+4_209+7del
|
rs398123318
|
|
|
NM_000314.8(PTEN):c.253+1G>A
|
rs587776667
|
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
|
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly)
|
rs121909237
|
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
|
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)
|
rs606231170
|
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
|
NM_000314.8(PTEN):c.761_765del (p.Lys254fs)
|
rs606231169
|
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
|
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)
|
rs146650273
|
|
|
NM_000321.3(RB1):c.1172C>G (p.Ser391Ter)
|
|
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
|
NM_000321.3(RB1):c.2039T>C (p.Ile680Thr)
|
rs1949384455
|
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
|
NM_000321.3(RB1):c.380+2T>C
|
|
|
|
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)
|
rs137853079
|
|
|
NM_000455.5(STK11):c.650del (p.Pro217fs)
|
rs397518442
|
|
|
NM_000455.5(STK11):c.716G>A (p.Trp239Ter)
|
rs730881975
|
|
|
NM_000455.5(STK11):c.936del (p.Lys312fs)
|
rs397518443
|
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
|
NM_000465.3(BARD1):c.1569-?_*3030+?del
|
|
|
|
NM_000465.4(BARD1):c.1002del (p.Arg335fs)
|
rs1694972839
|
|
|
NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter)
|
rs1694972567
|
|
|
NM_000465.4(BARD1):c.100dup (p.Trp34fs)
|
rs1553628410
|
|
|
NM_000465.4(BARD1):c.1014del (p.Ser339fs)
|
rs1064793682
|
|
|
NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)
|
|
|
|
NM_000465.4(BARD1):c.1021dup (p.Leu341fs)
|
rs1553622300
|
|
|
NM_000465.4(BARD1):c.1023del (p.Ser342fs)
|
rs876660061
|
|
|
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter)
|
rs879254280
|
|
|
NM_000465.4(BARD1):c.1037dup (p.Asp346fs)
|
|
|
|
NM_000465.4(BARD1):c.103del (p.Ala35fs)
|
|
|
|
NM_000465.4(BARD1):c.103dup (p.Ala35fs)
|
|
|
|
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)
|
rs2106109048
|
|
|
NM_000465.4(BARD1):c.105_135del (p.His36fs)
|
|
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
|
NM_000465.4(BARD1):c.1068_1071del (p.Ile357fs)
|
rs2106108885
|
|
|
NM_000465.4(BARD1):c.1069del (p.Ile357fs)
|
|
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
|
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
|
|
|
|
NM_000465.4(BARD1):c.1124del (p.Thr375fs)
|
|
|
|
NM_000465.4(BARD1):c.1134_1136delinsC (p.Arg378fs)
|
|
|
|
NM_000465.4(BARD1):c.1139del (p.Asn380fs)
|
|
|
|
NM_000465.4(BARD1):c.1147_1148del (p.Met383fs)
|
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
|
NM_000465.4(BARD1):c.1160_1164dup (p.Ser391fs)
|
rs2106108347
|
|
|
NM_000465.4(BARD1):c.1160del (p.Phe387fs)
|
rs1553622216
|
|
|
NM_000465.4(BARD1):c.1164_1189del (p.Ser389fs)
|
|
|
|
NM_000465.4(BARD1):c.1168_1169insG (p.Leu390fs)
|
|
|
|
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter)
|
rs878853995
|
|
|
NM_000465.4(BARD1):c.1177_1180dup (p.Thr394fs)
|
rs1559423694
|
|
|
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs)
|
rs1694949382
|
|
|
NM_000465.4(BARD1):c.1194del (p.Thr398_Leu399insTer)
|
|
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
|
NM_000465.4(BARD1):c.1210del (p.Tyr404fs)
|
rs1694947319
|
|
|
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)
|
rs1553622178
|
|
|
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs)
|
rs1553622164
|
|
|
NM_000465.4(BARD1):c.1227_1230del (p.Ser410fs)
|
rs2106107966
|
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
|
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
|
|
|
|
NM_000465.4(BARD1):c.1255_1256del (p.Asn419fs)
|
|
|
|
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs)
|
rs786203533
|
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
|
NM_000465.4(BARD1):c.1278_1279del (p.His426fs)
|
rs1694939675
|
|
|
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs)
|
rs1553622103
|
|
|
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
|
|
|
|
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs)
|
rs1574815812
|
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
|
NM_000465.4(BARD1):c.1322_1323dup (p.Pro442fs)
|
|
|
|
NM_000465.4(BARD1):c.1323dup (p.Pro442fs)
|
rs1694365908
|
|
|
NM_000465.4(BARD1):c.1325del (p.Pro442fs)
|
rs1060501287
|
|
|
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs)
|
rs1694365276
|
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
|
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)
|
rs761702998
|
|
|
NM_000465.4(BARD1):c.1339_1340insA (p.Leu447fs)
|
|
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
|
NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)
|
|
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
|
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.1350dup (p.Gly451fs)
|
|
|
|
NM_000465.4(BARD1):c.1366_1369delinsCTT (p.Val456fs)
|
rs1694360411
|
|
|
NM_000465.4(BARD1):c.1371dup (p.Asp458fs)
|
rs1553619704
|
|
|
NM_000465.4(BARD1):c.1375del (p.His459fs)
|
|
|
|
NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)
|
|
|
|
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)
|
rs1370053894
|
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
|
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer)
|
rs1559410146
|
|
|
NM_000465.4(BARD1):c.1429del (p.Val477fs)
|
|
|
|
NM_000465.4(BARD1):c.1444del (p.Gln482fs)
|
|
|
|
NM_000465.4(BARD1):c.144_151del (p.Arg49fs)
|
|
|
|
NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter)
|
rs1694273552
|
|
|
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
|
|
|
|
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
|
|
|
|
NM_000465.4(BARD1):c.1480_1481del (p.Gln493_Asn494insTer)
|
rs2106076720
|
|
|
NM_000465.4(BARD1):c.1486_1489dup (p.Pro497fs)
|
|
|
|
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter)
|
rs1405646805
|
|
|
NM_000465.4(BARD1):c.1499dup (p.Asp500fs)
|
rs1553619258
|
|
|
NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)
|
|
|
|
NM_000465.4(BARD1):c.1510_1514dup (p.His506fs)
|
|
|
|
NM_000465.4(BARD1):c.1525_1528dup (p.Val510fs)
|
|
|
|
NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)
|
|
|
|
NM_000465.4(BARD1):c.1535del (p.Leu512fs)
|
rs2106076377
|
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
|
NM_000465.4(BARD1):c.1540del (p.Leu514fs)
|
|
|
|
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
|
|
|
|
NM_000465.4(BARD1):c.1569-12T>G
|
rs879254246
|
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
|
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
|
|
|
|
NM_000465.4(BARD1):c.1597del (p.Tyr533fs)
|
|
|
|
NM_000465.4(BARD1):c.1598del (p.Tyr533fs)
|
|
|
|
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp)
|
rs201708813
|
|
|
NM_000465.4(BARD1):c.1600_1634delinsGCG (p.Thr534fs)
|
rs1064792931
|
|
|
NM_000465.4(BARD1):c.1604_1622delinsCA (p.Asp535fs)
|
|
|
|
NM_000465.4(BARD1):c.1620del (p.Lys540fs)
|
rs1693504040
|
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
|
NM_000465.4(BARD1):c.1628_1632del (p.Leu543fs)
|
|
|
|
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs)
|
rs1553616352
|
|
|
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter)
|
rs876658429
|
|
|
NM_000465.4(BARD1):c.1639_1667del (p.Glu547fs)
|
|
|
|
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs)
|
rs1553616361
|
|
|
NM_000465.4(BARD1):c.1656del (p.Ser553fs)
|
rs1574756047
|
|
|
NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)
|
|
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
|
NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)
|
|
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
|
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
|
NM_000465.4(BARD1):c.1678-5_1903+5del
|
|
|
|
NM_000465.4(BARD1):c.168del (p.Ile56_Leu57insTer)
|
rs1574847428
|
|
|
NM_000465.4(BARD1):c.1696_1697del (p.Arg566fs)
|
|
|
|
NM_000465.4(BARD1):c.1718_1730del (p.Ile573fs)
|
|
|
|
NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs)
|
rs2106021114
|
|
|
NM_000465.4(BARD1):c.1725_1903+740del
|
|
|
|
NM_000465.4(BARD1):c.1728dup (p.Leu577fs)
|
|
|
|
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
|
|
|
|
NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)
|
|
|
|
NM_000465.4(BARD1):c.1736C>G (p.Ser579Ter)
|
|
|
|
NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter)
|
rs2106021020
|
|
|
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)
|
rs1553615135
|
|
|
NM_000465.4(BARD1):c.1746_1747del (p.Lys583fs)
|
|
|
|
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs)
|
rs1574739207
|
|
|
NM_000465.4(BARD1):c.1759G>T (p.Glu587Ter)
|
|
|
|
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
|
|
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
|
NM_000465.4(BARD1):c.1771del (p.Ile591fs)
|
rs1574739114
|
|
|
NM_000465.4(BARD1):c.1776_1777insTTTTTTTTTTTTTTTTTTTGNNNNNNNNNNCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGCAGTAATTCTT (p.Lys593delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuAspLeuLeuThrSerTer)
|
rs2106020750
|
|
|
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer)
|
rs1693074467
|
|
|
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs)
|
rs1553615102
|
|
|
NM_000465.4(BARD1):c.1788_1792del (p.Lys596fs)
|
|
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
|
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
|
|
|
|
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
|
|
|
|
NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs)
|
|
|
|
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer)
|
rs1553615092
|
|
|
NM_000465.4(BARD1):c.1811-2A>G
|
rs1693044156
|
|
|
NM_000465.4(BARD1):c.1817del (p.His606fs)
|
|
|
|
NM_000465.4(BARD1):c.1819del (p.Val607fs)
|
|
|
|
NM_000465.4(BARD1):c.1829del (p.Pro610fs)
|
rs1693042024
|
|
|
NM_000465.4(BARD1):c.1833dup (p.Asp612Ter)
|
rs1553614963
|
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
|
NM_000465.4(BARD1):c.184del (p.Cys62fs)
|
rs1559441846
|
|
|
NM_000465.4(BARD1):c.1851delinsTG (p.Leu618fs)
|
|
|
|
NM_000465.4(BARD1):c.1854_1855dup (p.Lys619fs)
|
|
|
|
NM_000465.4(BARD1):c.1857dup (p.Cys620fs)
|
|
|
|
NM_000465.4(BARD1):c.185_186del (p.Cys62fs)
|
rs2106145629
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
|
NM_000465.4(BARD1):c.1875_1876del (p.Asn626fs)
|
|
|
|
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)
|
rs878854003
|
|
|
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
|
|
|
|
NM_000465.4(BARD1):c.1903+2T>C
|
rs1574737047
|
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
|
NM_000465.4(BARD1):c.1910_1911dup (p.Ala638fs)
|
|
|
|
NM_000465.4(BARD1):c.1911del (p.Ala638fs)
|
|
|
|
NM_000465.4(BARD1):c.1911dup (p.Ala638fs)
|
|
|
|
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.1944del (p.Glu649fs)
|
|
|
|
NM_000465.4(BARD1):c.1949del (p.Lys650fs)
|
rs1692302934
|
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
|
NM_000465.4(BARD1):c.199del (p.Glu67fs)
|
|
|
|
NM_000465.4(BARD1):c.2001+1G>T
|
rs768490891
|
|
|
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.2040G>A (p.Trp680Ter)
|
|
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
|
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
|
|
|
|
NM_000465.4(BARD1):c.2126dup (p.Asp710fs)
|
|
|
|
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.2137_2141del (p.Val713fs)
|
|
|
|
NM_000465.4(BARD1):c.2138del (p.Val713fs)
|
|
|
|
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.2157_2160dup (p.Ala721fs)
|
|
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
|
NM_000465.4(BARD1):c.216-1G>T
|
|
|
|
NM_000465.4(BARD1):c.2164_2200del (p.Tyr722fs)
|
|
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
|
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
|
|
|
|
NM_000465.4(BARD1):c.2195del (p.Phe732fs)
|
|
|
|
NM_000465.4(BARD1):c.2204_2205insTA (p.Gln735fs)
|
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
|
NM_000465.4(BARD1):c.2228del (p.Cys743fs)
|
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
|
NM_000465.4(BARD1):c.225_228del (p.Ser76fs)
|
rs1553624830
|
|
|
NM_000465.4(BARD1):c.2262del (p.Val755fs)
|
|
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
|
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)
|
rs1559371635
|
|
|
NM_000465.4(BARD1):c.226del (p.Ser76fs)
|
rs1559437264
|
|
|
NM_000465.4(BARD1):c.2276dup (p.Ser760fs)
|
|
|
|
NM_000465.4(BARD1):c.22_38delinsGTT (p.Arg8fs)
|
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
|
NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)
|
|
|
|
NM_000465.4(BARD1):c.230_233del (p.Asp77fs)
|
|
|
|
NM_000465.4(BARD1):c.234C>A (p.Cys78Ter)
|
|
|
|
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter)
|
rs1559437226
|
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
|
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
|
|
|
|
NM_000465.4(BARD1):c.266del (p.Pro89fs)
|
rs1553624802
|
|
|
NM_000465.4(BARD1):c.26_40delinsTAATCGGT (p.Asn9fs)
|
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
|
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)
|
rs2106135008
|
|
|
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer)
|
rs1553624801
|
|
|
NM_000465.4(BARD1):c.277C>T (p.Gln93Ter)
|
rs876658571
|
|
|
NM_000465.4(BARD1):c.282del (p.Asp94_Leu95insTer)
|
|
|
|
NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)
|
|
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
|
NM_000465.4(BARD1):c.295del (p.Arg99fs)
|
|
|
|
NM_000465.4(BARD1):c.295dup (p.Arg99fs)
|
|
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
|
NM_000465.4(BARD1):c.302del (p.Leu101fs)
|
|
|
|
NM_000465.4(BARD1):c.30dup (p.Gln11fs)
|
rs1553628482
|
|
|
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)
|
rs2106134639
|
|
|
NM_000465.4(BARD1):c.341T>A (p.Leu114Ter)
|
|
|
|
NM_000465.4(BARD1):c.35del (p.Pro12fs)
|
|
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
|
NM_000465.4(BARD1):c.369_378del (p.Lys124fs)
|
|
|
|
NM_000465.4(BARD1):c.39_40del (p.Arg13fs)
|
|
|
|
NM_000465.4(BARD1):c.413_419del (p.Asn138fs)
|
rs1574821575
|
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
|
NM_000465.4(BARD1):c.433_435delinsTA (p.Met145fs)
|
|
|
|
NM_000465.4(BARD1):c.434dup (p.Met145fs)
|
|
|
|
NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)
|
|
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
|
NM_000465.4(BARD1):c.438_439del (p.Trp146fs)
|
|
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
|
NM_000465.4(BARD1):c.461_464del (p.Val154fs)
|
|
|
|
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)
|
rs1553622669
|
|
|
NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)
|
|
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
|
NM_000465.4(BARD1):c.483_490del (p.Ser162fs)
|
|
|
|
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)
|
rs750350372
|
|
|
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
|
rs786202500
|
|
|
NM_000465.4(BARD1):c.50_62del (p.Gly17fs)
|
|
|
|
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
|
|
|
|
NM_000465.4(BARD1):c.513del (p.Asp172fs)
|
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
|
NM_000465.4(BARD1):c.517dup (p.Ala173fs)
|
rs1574821129
|
|
|
NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)
|
rs776851287
|
|
|
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
|
|
|
|
NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)
|
|
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
|
NM_000465.4(BARD1):c.541G>T (p.Glu181Ter)
|
|
|
|
NM_000465.4(BARD1):c.543del (p.Glu181fs)
|
|
|
|
NM_000465.4(BARD1):c.550del (p.Ser184fs)
|
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
|
|
|
NM_000465.4(BARD1):c.583dup (p.Ala195fs)
|
|
|
|
NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)
|
|
|
|
NM_000465.4(BARD1):c.590del (p.Lys197fs)
|
|
|
|
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs)
|
rs1574820590
|
|
|
NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)
|
|
|
|
NM_000465.4(BARD1):c.601del (p.Arg201fs)
|
|
|
|
NM_000465.4(BARD1):c.607G>T (p.Gly203Ter)
|
rs730881415
|
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
rs1559425604
|
|
|
NM_000465.4(BARD1):c.616C>T (p.Gln206Ter)
|
rs1453894904
|
|
|
NM_000465.4(BARD1):c.616dup (p.Gln206fs)
|
rs2106111411
|
|
|
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs)
|
rs1695009134
|
|
|
NM_000465.4(BARD1):c.623del (p.Lys208fs)
|
|
|
|
NM_000465.4(BARD1):c.623dup (p.Lys209fs)
|
rs587780033
|
|
|
NM_000465.4(BARD1):c.624dup (p.Lys209fs)
|
rs1553622558
|
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
|
NM_000465.4(BARD1):c.628del (p.Thr210fs)
|
|
|
|
NM_000465.4(BARD1):c.631_632del (p.Leu211fs)
|
|
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
|
NM_000465.4(BARD1):c.632del (p.Thr210_Leu211insTer)
|
|
|
|
NM_000465.4(BARD1):c.632dup (p.Leu211fs)
|
rs999444545
|
|
|
NM_000465.4(BARD1):c.640dup (p.Ile214fs)
|
|
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
|
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)
|
rs1553622530
|
|
|
NM_000465.4(BARD1):c.657_660del (p.Asn219fs)
|
rs587781671
|
|
|
NM_000465.4(BARD1):c.659del (p.Asn219_Leu220insTer)
|
|
|
|
NM_000465.4(BARD1):c.65_101del (p.Ser22fs)
|
rs1574869326
|
|
|
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)
|
rs1064793049
|
|
|
NM_000465.4(BARD1):c.680dup (p.Gly227_Glu228insTer)
|
|
|
|
NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)
|
|
|
|
NM_000465.4(BARD1):c.684del (p.Glu228fs)
|
|
|
|
NM_000465.4(BARD1):c.686_687insG (p.Phe229fs)
|
|
|
|
NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)
|
|
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
|
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)
|
rs905491643
|
|
|
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)
|
rs587780035
|
|
|
NM_000465.4(BARD1):c.716_732del (p.Leu239fs)
|
|
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
|
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
|
|
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
|
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
|
|
|
|
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
|
|
|
|
NM_000465.4(BARD1):c.741_750del (p.Ile249fs)
|
rs1559425098
|
|
|
NM_000465.4(BARD1):c.745dup (p.Ile249fs)
|
rs1553622487
|
|
|
NM_000465.4(BARD1):c.755del (p.Pro252fs)
|
rs1553622471
|
|
|
NM_000465.4(BARD1):c.776del (p.Asp259fs)
|
|
|
|
NM_000465.4(BARD1):c.779T>G (p.Leu260Ter)
|
rs1559425010
|
|
|
NM_000465.4(BARD1):c.780dup (p.Leu261fs)
|
rs2106110487
|
|
|
NM_000465.4(BARD1):c.782dup (p.Ala262fs)
|
|
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
|
NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)
|
|
|
|
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)
|
rs1060501288
|
|
|
NM_000465.4(BARD1):c.810del (p.Glu270fs)
|
|
|
|
NM_000465.4(BARD1):c.824T>A (p.Leu275Ter)
|
rs765629130
|
|
|
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
|
|
|
|
NM_000465.4(BARD1):c.829G>T (p.Glu277Ter)
|
|
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
|
NM_000465.4(BARD1):c.83del (p.Pro28fs)
|
rs2106171367
|
|
|
NM_000465.4(BARD1):c.853dup (p.Gln285fs)
|
|
|
|
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)
|
rs2106110129
|
|
|
NM_000465.4(BARD1):c.858dup (p.Glu287fs)
|
rs1553622397
|
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
|
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
|
NM_000465.4(BARD1):c.884_888del (p.Asn295fs)
|
|
|
|
NM_000465.4(BARD1):c.891_895del (p.Val298fs)
|
rs1574818696
|
|
|
NM_000465.4(BARD1):c.925dup (p.Thr309fs)
|
rs2106109750
|
|
|
NM_000465.4(BARD1):c.92dup (p.Gly32fs)
|
|
|
|
NM_000465.4(BARD1):c.934A>T (p.Lys312Ter)
|
rs1060501291
|
|
|
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter)
|
rs587781728
|
|
|
NM_000465.4(BARD1):c.947del (p.Pro315_Leu316insTer)
|
|
|
|
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
|
|
|
|
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
|
|
|
|
NM_000465.4(BARD1):c.966_967dup (p.Gly323fs)
|
|
|
|
NM_000465.4(BARD1):c.974_986del (p.His325fs)
|
|
|
|
NM_000465.4(BARD1):c.975_976del (p.His325fs)
|
|
|
|
NM_000465.4(BARD1):c.979A>T (p.Arg327Ter)
|
rs1559424358
|
|
|
NM_000465.4(BARD1):c.985del (p.Ser329fs)
|
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
|
NM_000465.4(BARD1):c.99del (p.Trp34fs)
|
rs2106171232
|
|
|
NM_000535.7(PMS2):c.1145-1_2006+2del
|
rs2128719778
|
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
|
NM_000535.7(PMS2):c.2175-1335_2445+4del
|
|
|
|
NM_000535.7(PMS2):c.2184del (p.Leu729fs)
|
rs1554294505
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.23+1G>A
|
rs587782074
|
|
|
NM_000535.7(PMS2):c.2445+1763_*2del
|
|
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.2446-170_*3del
|
rs2128656455
|
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
|
NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA
|
rs2128802890
|
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
|
NM_000535.7(PMS2):c.804-267_903+2del
|
rs2128774241
|
|
|
NM_000535.7(PMS2):c.904-199_988+2del
|
rs2128754923
|
|
|
NM_000535.7(PMS2):c.989-1_1144+2del
|
rs2128746824
|
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
|
NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)
|
|
|
|
NM_000546.6(TP53):c.105G>T (p.Leu35Phe)
|
rs121912661
|
|
|
NM_000546.6(TP53):c.1118del (p.Lys373fs)
|
rs2150988776
|
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
|
NM_000546.6(TP53):c.298del (p.Gln100fs)
|
rs1567556006
|
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
|
NM_000546.6(TP53):c.383del (p.Pro128fs)
|
rs1597371666
|
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
|
NM_000546.6(TP53):c.390_426del (p.Asn131fs)
|
rs1597371154
|
|
|
NM_000546.6(TP53):c.400T>G (p.Phe134Val)
|
rs267605077
|
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.460_463del (p.Gly154fs)
|
rs1567553658
|
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
rs730882001
|
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
|
NM_000546.6(TP53):c.610G>T (p.Glu204Ter)
|
rs2073336758
|
|
|
NM_000546.6(TP53):c.622G>T (p.Asp208Tyr)
|
rs1597368376
|
|
|
NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del)
|
rs2073329654
|
|
|
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)
|
rs397516436
|
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.646G>C (p.Val216Leu)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
|
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)
|
rs1597365202
|
|
|
NM_000546.6(TP53):c.713dup (p.Cys238fs)
|
rs1597365075
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
|
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.761T>G (p.Ile254Ser)
|
rs1330865474
|
|
|
NM_000546.6(TP53):c.796G>T (p.Gly266Ter)
|
rs1057519990
|
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.848_849del (p.Arg283fs)
|
rs2073188904
|
|
|
NM_000546.6(TP53):c.851_855del (p.Thr284fs)
|
rs2073187136
|
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
|
NM_000546.6(TP53):c.919+1G>A
|
rs1131691039
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
|
NM_000546.6(TP53):c.994-1G>A
|
rs587782272
|
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
|
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)
|
rs121434587
|
|
|
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)
|
rs121434588
|
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
|
NM_001048174.2(MUTYH):c.378+1G>T
|
rs1645259682
|
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
|
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val)
|
rs121917731
|
|
|
NM_001127511.2(APC):c.[-125delA;-195A>C]
|
|
|
|
NM_001127511.3(APC):c.-191T>C
|
rs879253783
|
|
|
NM_001127511.3(APC):c.166-28469_166-27547del
|
rs2149682237
|
|
|
NM_001300.6(KLF6):c.190T>C (p.Trp64Arg)
|
rs121909142
|
|
|
NM_001300.6(KLF6):c.346T>C (p.Ser116Pro)
|
rs121909139
|
|
|
NM_001300.6(KLF6):c.368C>A (p.Ala123Asp)
|
rs121909141
|
|
|
NM_001300.6(KLF6):c.410C>A (p.Ser137Ter)
|
rs121909140
|
|
|
NM_001300.6(KLF6):c.506T>C (p.Leu169Pro)
|
rs121909143
|
|
|
NM_001330368.2(C11orf65):c.641-26773del
|
|
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|
|
NM_001349956.2(CHEK2):c.444+119del
|
|
|
|
NM_001368894.2(PAX6):c.10+5G>C
|
rs587776572
|
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
|
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)
|
rs587776665
|
|
|
NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr)
|
rs137853148
|
|
|
NM_001378902.1(ROS1):c.3388G>A (p.Gly1130Arg)
|
|
|
|
NM_001378902.1(ROS1):c.6076G>A (p.Gly2026Arg)
|
rs1057519788
|
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
|
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)
|
rs864321679
|
|
|
NM_001407299.1(PALB2):c.3113+7271del
|
rs1597073423
|
|
|
NM_001407314.1(PALB2):c.49-1193del
|
rs1597091518
|
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
|
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)
|
rs28937578
|
|
|
NM_001429.4(EP300):c.832del (p.Thr278fs)
|
rs2058879988
|
|
|
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)
|
rs1555303073
|
|
|
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.1078_1081del (p.Arg360fs)
|
rs1753991365
|
|
|
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)
|
rs1426385729
|
|
|
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)
|
rs1754363697
|
|
|
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)
|
rs1758714268
|
|
|
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)
|
rs201498915
|
|
|
NM_001903.5(CTNNA1):c.1430_1433del (p.Ser477fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1450dup (p.Met484fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)
|
rs2149656252
|
|
|
NM_001903.5(CTNNA1):c.1544C>G (p.Ser515Ter)
|
rs1762138459
|
|
|
NM_001903.5(CTNNA1):c.157_158del (p.Gly53fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)
|
rs2150288001
|
|
|
NM_001903.5(CTNNA1):c.1613_1617dup (p.Arg540fs)
|
rs1580854940
|
|
|
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)
|
rs1763609978
|
|
|
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.1904_1905del (p.Pro635fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)
|
|
|
|
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)
|
|
|
|
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)
|
rs1764805365
|
|
|
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)
|
rs1580907792
|
|
|
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)
|
|
|
|
NM_001903.5(CTNNA1):c.222_223del (p.Lys75fs)
|
rs1580984414
|
|
|
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)
|
rs773235871
|
|
|
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)
|
rs1043413100
|
|
|
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)
|
|
|
|
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)
|
rs1581105774
|
|
|
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)
|
|
|
|
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)
|
|
|
|
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)
|
|
|
|
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)
|
rs2149651992
|
|
|
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.86del (p.Leu29fs)
|
rs745411817
|
|
|
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)
|
|
|
|
NM_001903.5(CTNNA1):c.919del (p.Glu307fs)
|
rs1760848495
|
|
|
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
|
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
|
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
|
rs1575320216
|
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
|
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)
|
rs587776850
|
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
|
NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)
|
rs121912470
|
|
|
NM_002354.3(EPCAM):c.556-3_657+288del
|
rs2103756948
|
|
|
NM_002354.3(EPCAM):c.859-2_903+43del
|
rs2103768437
|
|
|
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer)
|
rs1580553607
|
|
|
NM_002439.5(MSH3):c.1060dup (p.Val354fs)
|
rs1580553669
|
|
|
NM_002439.5(MSH3):c.1148del (p.Lys383fs)
|
rs587776701
|
|
|
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter)
|
rs963234468
|
|
|
NM_002439.5(MSH3):c.2319-1G>A
|
rs866260675
|
|
|
NM_002439.5(MSH3):c.2760del (p.Tyr921fs)
|
rs751326348
|
|
|
NM_002439.5(MSH3):c.3001-2A>G
|
rs886037878
|
|
|
NM_002485.5(NBN):c.1071dup (p.Val358fs)
|
rs2129745554
|
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)
|
rs748453607
|
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
|
NM_002524.5(NRAS):c.183A>C (p.Gln61His)
|
rs121913255
|
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
|
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)
|
rs121913250
|
|
|
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)
|
rs121913237
|
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
|
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
|
|
|
|
NM_002691.4(POLD1):c.3148del (p.Arg1050fs)
|
rs2122507340
|
|
|
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)
|
rs1057519729
|
|
|
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)
|
rs869025608
|
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
|
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)
|
rs121434623
|
|
|
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter)
|
rs199925463
|
|
|
NM_002878.4(RAD51D):c.480+1G>A
|
rs1597862471
|
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
|
NM_002878.4(RAD51D):c.790_796dup (p.Arg266fs)
|
rs2142411968
|
|
|
NM_003000.3(SDHB):c.661del (p.Asp221fs)
|
|
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
|
NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)
|
rs2125451831
|
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
|
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg)
|
rs1575166666
|
|
|
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)
|
rs121918714
|
|
|
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)
|
rs587776627
|
|
|
NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)
|
|
|
|
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter)
|
rs1057524700
|
|
|
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)
|
rs763475304
|
|
|
NM_003842.5(TNFRSF10B):c.1150_1151dup (p.Met385fs)
|
|
|
|
NM_003921.5(BCL10):c.136dup (p.Ile46fs)
|
rs387906351
|
|
|
NM_004168.3:g.(?_218403)_(256583_?)del
|
|
|
|
NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs)
|
rs387906389
|
|
|
NM_004302.5(ACVR1B):c.1262-502_1392+24del
|
rs1555162597
|
|
|
NM_004333.6(BRAF):c.1277G>C (p.Arg426Thr)
|
rs1801030116
|
|
|
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile)
|
rs180177032
|
|
|
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser)
|
rs180177033
|
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
|
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)
|
rs121913348
|
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
|
NM_004333.6(BRAF):c.1405_1406delinsTT (p.Gly469Leu)
|
rs1057519720
|
|
|
NM_004333.6(BRAF):c.1405_1407del (p.Gly469del)
|
rs397516890
|
|
|
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys)
|
rs1057519719
|
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
|
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)
|
rs727502902
|
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
|
NM_004336.5(BUB1):c.3069del (p.His1024fs)
|
rs587776642
|
|
|
NM_004360.3(CDH1):c.388-?_*2042+?del
|
|
|
|
NM_004360.4:c.(1008+1_1009-1)_(1711+1_1712-1)del
|
|
|
|
NM_004360.4:c.(1320+1_1321-1)_(1711+1_1712-1)del
|
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(1711+1_1712-1)del
|
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(2164+1_2165-1)del
|
|
|
|
NM_004360.4:c.(163+1_164-1)_(1137+1_1138-1)del
|
|
|
|
NM_004360.4:c.(163+1_164-1)_(387+1_388-1)del
|
|
|
|
NM_004360.4:c.(387+1_388-1)_(1711+1_1712-1)dup
|
|
|
|
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)
|
rs267606712
|
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
|
NM_004360.5(CDH1):c.1020_1051del (p.Tyr341fs)
|
|
|
|
NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter)
|
rs587776398
|
|
|
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter)
|
rs878854676
|
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
|
NM_004360.5(CDH1):c.1040_1041dup (p.Ala348fs)
|
|
|
|
NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter)
|
rs1555515726
|
|
|
NM_004360.5(CDH1):c.1056del (p.Glu353fs)
|
|
|
|
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)
|
rs876661091
|
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
|
NM_004360.5(CDH1):c.1062dup (p.Leu355fs)
|
|
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
|
NM_004360.5(CDH1):c.1064dup (p.Leu355fs)
|
rs1555515731
|
|
|
NM_004360.5(CDH1):c.1070del (p.Thr357fs)
|
|
|
|
NM_004360.5(CDH1):c.1078del (p.Thr360fs)
|
|
|
|
NM_004360.5(CDH1):c.1085del (p.Val362fs)
|
rs1555515739
|
|
|
NM_004360.5(CDH1):c.1091_1092del (p.Thr364fs)
|
|
|
|
NM_004360.5(CDH1):c.1091del (p.Thr364fs)
|
|
|
|
NM_004360.5(CDH1):c.1093_1094del (p.Val365fs)
|
|
|
|
NM_004360.5(CDH1):c.1097_1112del (p.Thr366fs)
|
|
|
|
NM_004360.5(CDH1):c.1098_1099insAA (p.Asp367fs)
|
|
|
|
NM_004360.5(CDH1):c.1098_1101del (p.Asp367fs)
|
|
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
|
NM_004360.5(CDH1):c.1123_1129del (p.Phe375fs)
|
|
|
|
NM_004360.5(CDH1):c.1131del (p.Thr378fs)
|
rs1131690812
|
|
|
NM_004360.5(CDH1):c.1135_1137+5delinsTTAGA
|
|
|
|
NM_004360.5(CDH1):c.1137+2T>C
|
rs786202817
|
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
|
NM_004360.5(CDH1):c.1141A>T (p.Lys381Ter)
|
|
|
|
NM_004360.5(CDH1):c.1143_1145delinsA (p.Gly382fs)
|
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
|
NM_004360.5(CDH1):c.1155dup (p.Glu386Ter)
|
|
|
|
NM_004360.5(CDH1):c.1162G>T (p.Glu388Ter)
|
|
|
|
NM_004360.5(CDH1):c.1170del (p.Asn390fs)
|
rs1567507724
|
|
|
NM_004360.5(CDH1):c.1189A>T (p.Lys397Ter)
|
rs1960892947
|
|
|
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
|
rs1962423346
|
|
|
NM_004360.5(CDH1):c.1211_1212dup (p.Asn405fs)
|
rs1597895871
|
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
|
NM_004360.5(CDH1):c.1212dup (p.Asn405fs)
|
rs1597895871
|
|
|
NM_004360.5(CDH1):c.1215del (p.Asn405fs)
|
rs2152133449
|
|
|
NM_004360.5(CDH1):c.1220del (p.Pro407fs)
|
rs886037822
|
|
|
NM_004360.5(CDH1):c.1222dup (p.Ala408fs)
|
|
|
|
NM_004360.5(CDH1):c.1226G>A (p.Trp409Ter)
|
|
|
|
NM_004360.5(CDH1):c.1227G>A (p.Trp409Ter)
|
rs1960895237
|
|
|
NM_004360.5(CDH1):c.1228G>T (p.Glu410Ter)
|
|
|
|
NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)
|
rs1567507825
|
|
|
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)
|
rs876658865
|
|
|
NM_004360.5(CDH1):c.1260dup (p.Gly421fs)
|
|
|
|
NM_004360.5(CDH1):c.1264C>T (p.Gln422Ter)
|
|
|
|
NM_004360.5(CDH1):c.1266del (p.Gln422fs)
|
|
|
|
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
|
|
|
|
NM_004360.5(CDH1):c.1273del (p.Val425fs)
|
|
|
|
NM_004360.5(CDH1):c.1295_1296delinsTTTT (p.Asn432fs)
|
|
|
|
NM_004360.5(CDH1):c.1301del (p.Gly434fs)
|
|
|
|
NM_004360.5(CDH1):c.1312del (p.Thr438fs)
|
rs1555515920
|
|
|
NM_004360.5(CDH1):c.1315_1316delinsCAA (p.Ala439fs)
|
|
|
|
NM_004360.5(CDH1):c.1338_1345del (p.Lys447fs)
|
|
|
|
NM_004360.5(CDH1):c.1340_1346del (p.Lys447fs)
|
|
|
|
NM_004360.5(CDH1):c.1342C>T (p.Gln448Ter)
|
|
|
|
NM_004360.5(CDH1):c.1342dup (p.Gln448fs)
|
rs1960958360
|
|
|
NM_004360.5(CDH1):c.1343dup (p.Gln449fs)
|
|
|
|
NM_004360.5(CDH1):c.1350C>G (p.Tyr450Ter)
|
|
|
|
NM_004360.5(CDH1):c.1350_1362del (p.Gln449_Tyr450insTer)
|
rs2152134718
|
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
|
NM_004360.5(CDH1):c.1356_1362del (p.His453fs)
|
rs2152134736
|
|
|
NM_004360.5(CDH1):c.1369del (p.Thr457fs)
|
rs1960959718
|
|
|
NM_004360.5(CDH1):c.136del (p.Leu46fs)
|
|
|
|
NM_004360.5(CDH1):c.1373del (p.Asn458fs)
|
rs1960960044
|
|
|
NM_004360.5(CDH1):c.137del (p.Leu46fs)
|
|
|
|
NM_004360.5(CDH1):c.1380del (p.Pro461fs)
|
rs1567508847
|
|
|
NM_004360.5(CDH1):c.1382_1389del (p.Pro461fs)
|
|
|
|
NM_004360.5(CDH1):c.1386del (p.Phe462fs)
|
|
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
|
NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs)
|
rs1597897917
|
|
|
NM_004360.5(CDH1):c.1401del (p.Thr468fs)
|
|
|
|
NM_004360.5(CDH1):c.1404del (p.Ser469fs)
|
|
|
|
NM_004360.5(CDH1):c.1416dup (p.Val473fs)
|
|
|
|
NM_004360.5(CDH1):c.1418del (p.Val473fs)
|
rs1960962662
|
|
|
NM_004360.5(CDH1):c.1438_1453del (p.Val480fs)
|
|
|
|
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
|
|
|
|
NM_004360.5(CDH1):c.1450_1463del (p.Pro484fs)
|
|
|
|
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs)
|
rs1567508939
|
|
|
NM_004360.5(CDH1):c.1466dup (p.Pro489_Glu490insTer)
|
|
|
|
NM_004360.5(CDH1):c.1467del (p.Glu490fs)
|
|
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
|
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)
|
rs778871891
|
|
|
NM_004360.5(CDH1):c.1484del (p.Val495fs)
|
|
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
|
NM_004360.5(CDH1):c.1489G>T (p.Glu497Ter)
|
|
|
|
NM_004360.5(CDH1):c.1492del (p.Asp498fs)
|
|
|
|
NM_004360.5(CDH1):c.150_151dup (p.Val51fs)
|
rs2152114474
|
|
|
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)
|
rs1131690810
|
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
|
|
|
NM_004360.5(CDH1):c.1543dup (p.Thr515fs)
|
|
|
|
NM_004360.5(CDH1):c.1544_1545del (p.Thr515fs)
|
|
|
|
NM_004360.5(CDH1):c.1551_1554del (p.Met517fs)
|
|
|
|
NM_004360.5(CDH1):c.1555C>T (p.Gln519Ter)
|
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
|
NM_004360.5(CDH1):c.1565+2_1565+3insTT
|
rs1555516200
|
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
|
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)
|
rs876659716
|
|
|
NM_004360.5(CDH1):c.1569T>G (p.Tyr523Ter)
|
rs876659716
|
|
|
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter)
|
rs1596960298
|
|
|
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)
|
rs886039590
|
|
|
NM_004360.5(CDH1):c.1582_1583del (p.Asp528fs)
|
|
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
|
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)
|
rs1596960368
|
|
|
NM_004360.5(CDH1):c.1600dup (p.Glu534fs)
|
|
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
|
NM_004360.5(CDH1):c.1612del (p.Asp538fs)
|
rs1555516545
|
|
|
NM_004360.5(CDH1):c.1616del (p.Thr539fs)
|
rs2152136838
|
|
|
NM_004360.5(CDH1):c.1629del (p.Thr544fs)
|
|
|
|
NM_004360.5(CDH1):c.1641del (p.Glu547fs)
|
rs2152136881
|
|
|
NM_004360.5(CDH1):c.1651G>T (p.Glu551Ter)
|
|
|
|
NM_004360.5(CDH1):c.1660G>T (p.Glu554Ter)
|
|
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
|
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
|
rs1555516567
|
|
|
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
|
|
|
|
NM_004360.5(CDH1):c.1686_1687insCG (p.Ala563fs)
|
rs1961079421
|
|
|
NM_004360.5(CDH1):c.1689_1694delinsACGTA (p.Leu564fs)
|
|
|
|
NM_004360.5(CDH1):c.1695_1696insTT (p.Ile566fs)
|
rs2152137001
|
|
|
NM_004360.5(CDH1):c.1705_1708del (p.Asp569fs)
|
|
|
|
NM_004360.5(CDH1):c.1710del (p.Asn570fs)
|
rs1961081411
|
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
|
NM_004360.5(CDH1):c.1714dup (p.Ser572fs)
|
|
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_004360.5(CDH1):c.1733del (p.Thr578fs)
|
|
|
|
NM_004360.5(CDH1):c.1746dup (p.Leu583fs)
|
rs1131690817
|
|
|
NM_004360.5(CDH1):c.1763_1764del (p.Val588fs)
|
rs1961158988
|
|
|
NM_004360.5(CDH1):c.1779del (p.Ile594fs)
|
rs876661118
|
|
|
NM_004360.5(CDH1):c.1779dup (p.Ile594fs)
|
rs876661118
|
|
|
NM_004360.5(CDH1):c.1786G>T (p.Glu596Ter)
|
|
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
|
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
|
|
|
|
NM_004360.5(CDH1):c.1805_1806delinsAG (p.Phe602Ter)
|
|
|
|
NM_004360.5(CDH1):c.1806_1807del (p.Phe602fs)
|
|
|
|
NM_004360.5(CDH1):c.1828C>T (p.Gln610Ter)
|
|
|
|
NM_004360.5(CDH1):c.182delinsGT (p.Thr61fs)
|
|
|
|
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
|
|
|
|
NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs)
|
rs2152138436
|
|
|
NM_004360.5(CDH1):c.1878_1885del (p.Phe626fs)
|
rs2152138505
|
|
|
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)
|
rs587783047
|
|
|
NM_004360.5(CDH1):c.1889_1892del (p.Leu630fs)
|
rs2152138523
|
|
|
NM_004360.5(CDH1):c.1889del (p.Leu630fs)
|
|
|
|
NM_004360.5(CDH1):c.1893dup (p.His632fs)
|
rs1596963827
|
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
|
NM_004360.5(CDH1):c.1906_1907insA (p.Ala636fs)
|
|
|
|
NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)
|
rs1567512585
|
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
|
NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs)
|
rs1555516896
|
|
|
NM_004360.5(CDH1):c.1920dup (p.Gln641fs)
|
rs2152138595
|
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
|
NM_004360.5(CDH1):c.1926C>G (p.Tyr642Ter)
|
|
|
|
NM_004360.5(CDH1):c.1928del (p.Asn643fs)
|
|
|
|
NM_004360.5(CDH1):c.1935_1936+9del
|
|
|
|
NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter)
|
rs778195664
|
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
|
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)
|
rs1555517074
|
|
|
NM_004360.5(CDH1):c.1948_1949dup (p.Ile651fs)
|
rs1555517074
|
|
|
NM_004360.5(CDH1):c.1955dup (p.Leu652fs)
|
|
|
|
NM_004360.5(CDH1):c.1962_1971del (p.Pro654_Lys655insTer)
|
rs1961224909
|
|
|
NM_004360.5(CDH1):c.1965del (p.Met656fs)
|
|
|
|
NM_004360.5(CDH1):c.1973dup (p.Leu658fs)
|
rs1961225620
|
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
|
NM_004360.5(CDH1):c.1982del (p.Gly661fs)
|
rs1596965628
|
|
|
NM_004360.5(CDH1):c.1984_1987dup (p.Tyr663Ter)
|
|
|
|
NM_004360.5(CDH1):c.1993del (p.Ile665fs)
|
rs1567513227
|
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
|
NM_004360.5(CDH1):c.1A>T (p.Met1Leu)
|
|
|
|
NM_004360.5(CDH1):c.2018del (p.Gln673fs)
|
rs1961229029
|
|
|
NM_004360.5(CDH1):c.2029dup (p.Gln677fs)
|
rs1555517100
|
|
|
NM_004360.5(CDH1):c.202del (p.Tyr68fs)
|
rs786202151
|
|
|
NM_004360.5(CDH1):c.2031del (p.Gln677_Val678insTer)
|
|
|
|
NM_004360.5(CDH1):c.2033dup (p.Thr679fs)
|
|
|
|
NM_004360.5(CDH1):c.2049_2056del (p.Val683_Ser684insTer)
|
|
|
|
NM_004360.5(CDH1):c.2054dup (p.Cys686fs)
|
rs2152139452
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
|
NM_004360.5(CDH1):c.2085T>A (p.Cys695Ter)
|
|
|
|
NM_004360.5(CDH1):c.208dup (p.Ser70fs)
|
rs1555514406
|
|
|
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)
|
rs121964874
|
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
|
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter)
|
rs149127230
|
|
|
NM_004360.5(CDH1):c.2114del (p.Leu705fs)
|
|
|
|
NM_004360.5(CDH1):c.2116C>T (p.Gln706Ter)
|
|
|
|
NM_004360.5(CDH1):c.2116del (p.Gln706fs)
|
rs1961235503
|
|
|
NM_004360.5(CDH1):c.2137_2146dup (p.Gly716fs)
|
rs2152139643
|
|
|
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
|
rs1555517153
|
|
|
NM_004360.5(CDH1):c.2164+1G>T
|
|
|
|
NM_004360.5(CDH1):c.2164+2T>A
|
|
|
|
NM_004360.5(CDH1):c.2164+6_2439+966del
|
|
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
|
NM_004360.5(CDH1):c.2183T>A (p.Leu728Ter)
|
|
|
|
NM_004360.5(CDH1):c.2190_2193del (p.Leu731fs)
|
|
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
|
NM_004360.5(CDH1):c.2200A>T (p.Arg734Ter)
|
|
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
|
NM_004360.5(CDH1):c.2220del (p.Leu741fs)
|
|
|
|
NM_004360.5(CDH1):c.2222T>A (p.Leu741Ter)
|
rs2152141461
|
|
|
NM_004360.5(CDH1):c.2222T>G (p.Leu741Ter)
|
|
|
|
NM_004360.5(CDH1):c.2253del (p.Asn751fs)
|
rs2152141521
|
|
|
NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter)
|
rs786202785
|
|
|
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
|
|
|
|
NM_004360.5(CDH1):c.2276del (p.Gly759fs)
|
rs1555517680
|
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
|
NM_004360.5(CDH1):c.228dup (p.Val77fs)
|
|
|
|
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
|
NM_004360.5(CDH1):c.2293dup (p.Gln765fs)
|
|
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
|
NM_004360.5(CDH1):c.2297_2307delinsTTGA (p.Asp766fs)
|
|
|
|
NM_004360.5(CDH1):c.2301del (p.Phe767fs)
|
|
|
|
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
|
rs1131690813
|
|
|
NM_004360.5(CDH1):c.2311_2317del (p.Gln771fs)
|
|
|
|
NM_004360.5(CDH1):c.2324del (p.Gly775fs)
|
rs1060501248
|
|
|
NM_004360.5(CDH1):c.2351_2352del (p.Arg784fs)
|
|
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
|
NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)
|
rs1555517889
|
|
|
NM_004360.5(CDH1):c.2389dup (p.Tyr797fs)
|
rs1961431691
|
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
|
|
|
NM_004360.5(CDH1):c.2422G>T (p.Gly808Ter)
|
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
|
NM_004360.5(CDH1):c.2440-396_*224delinsGGA
|
rs2152143625
|
|
|
NM_004360.5(CDH1):c.244_248del (p.Val82fs)
|
|
|
|
NM_004360.5(CDH1):c.2474del (p.Pro825fs)
|
rs1555518221
|
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
|
NM_004360.5(CDH1):c.247delinsGTGTGG (p.Ile83fs)
|
|
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
|
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)
|
rs1131690822
|
|
|
NM_004360.5(CDH1):c.259dup (p.Arg87fs)
|
|
|
|
NM_004360.5(CDH1):c.25_26del (p.Ser9fs)
|
|
|
|
NM_004360.5(CDH1):c.261del (p.Arg87fs)
|
rs1555514429
|
|
|
NM_004360.5(CDH1):c.267dup (p.Arg90fs)
|
|
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
|
NM_004360.5(CDH1):c.281_283delinsGT (p.Pro94fs)
|
|
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
|
NM_004360.5(CDH1):c.294delinsTT (p.Leu99fs)
|
|
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
|
NM_004360.5(CDH1):c.301_314del (p.Tyr101fs)
|
|
|
|
NM_004360.5(CDH1):c.303C>G (p.Tyr101Ter)
|
|
|
|
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)
|
rs1555514464
|
|
|
NM_004360.5(CDH1):c.309G>A (p.Trp103Ter)
|
rs2152126900
|
|
|
NM_004360.5(CDH1):c.315del (p.Thr106fs)
|
rs1064795703
|
|
|
NM_004360.5(CDH1):c.318del (p.Tyr107fs)
|
|
|
|
NM_004360.5(CDH1):c.31del (p.Leu11fs)
|
rs2152113974
|
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
|
NM_004360.5(CDH1):c.322del (p.Arg108fs)
|
|
|
|
NM_004360.5(CDH1):c.325_326del (p.Lys109fs)
|
rs1960519159
|
|
|
NM_004360.5(CDH1):c.326del (p.Lys109fs)
|
|
|
|
NM_004360.5(CDH1):c.331del (p.Ser111fs)
|
|
|
|
NM_004360.5(CDH1):c.333del (p.Thr112fs)
|
|
|
|
NM_004360.5(CDH1):c.336del (p.Val114fs)
|
|
|
|
NM_004360.5(CDH1):c.348_351dup (p.Thr118fs)
|
rs2152126989
|
|
|
NM_004360.5(CDH1):c.360del (p.His121fs)
|
rs878854690
|
|
|
NM_004360.5(CDH1):c.360dup (p.His121fs)
|
rs878854690
|
|
|
NM_004360.5(CDH1):c.376_382del (p.Pro126fs)
|
|
|
|
NM_004360.5(CDH1):c.376_382dup (p.His128fs)
|
rs1567501500
|
|
|
NM_004360.5(CDH1):c.377del (p.Pro126fs)
|
rs1060501215
|
|
|
NM_004360.5(CDH1):c.377dup (p.Pro127fs)
|
rs1060501215
|
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
|
NM_004360.5(CDH1):c.384dup (p.Gln129fs)
|
|
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
|
NM_004360.5(CDH1):c.410del (p.Ala137fs)
|
|
|
|
NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)
|
|
|
|
NM_004360.5(CDH1):c.416del (p.Leu139fs)
|
|
|
|
NM_004360.5(CDH1):c.419_420del (p.Leu140fs)
|
|
|
|
NM_004360.5(CDH1):c.423_424dup (p.Phe142fs)
|
|
|
|
NM_004360.5(CDH1):c.42dup (p.Leu15fs)
|
|
|
|
NM_004360.5(CDH1):c.431del (p.Asn144fs)
|
|
|
|
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)
|
rs1555515197
|
|
|
NM_004360.5(CDH1):c.454_460del (p.Gln152fs)
|
rs1131690815
|
|
|
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)
|
rs1131690815
|
|
|
NM_004360.5(CDH1):c.455_465del (p.Gln152fs)
|
rs1555515210
|
|
|
NM_004360.5(CDH1):c.456_457delinsTT (p.Gln152_Lys153delinsHisTer)
|
|
|
|
NM_004360.5(CDH1):c.457A>T (p.Lys153Ter)
|
rs1567504575
|
|
|
NM_004360.5(CDH1):c.45_46insT (p.Gln16fs)
|
|
|
|
NM_004360.5(CDH1):c.464_467dup (p.Trp156Ter)
|
|
|
|
NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)
|
rs1555515215
|
|
|
NM_004360.5(CDH1):c.46C>T (p.Gln16Ter)
|
|
|
|
NM_004360.5(CDH1):c.471dup (p.Ile158fs)
|
rs1960728762
|
|
|
NM_004360.5(CDH1):c.479_480del (p.Pro160fs)
|
|
|
|
NM_004360.5(CDH1):c.47dup (p.Val17fs)
|
|
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
|
NM_004360.5(CDH1):c.48+1G>C
|
|
|
|
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)
|
rs1555515217
|
|
|
NM_004360.5(CDH1):c.484_485delinsT (p.Cys163fs)
|
|
|
|
NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)
|
rs1064794230
|
|
|
NM_004360.5(CDH1):c.48G>A (p.Gln16=)
|
rs749591910
|
|
|
NM_004360.5(CDH1):c.49-1G>A
|
|
|
|
NM_004360.5(CDH1):c.49-1G>C
|
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
|
NM_004360.5(CDH1):c.497del (p.Asn166fs)
|
|
|
|
NM_004360.5(CDH1):c.497dup (p.Asn166fs)
|
|
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
|
NM_004360.5(CDH1):c.506del (p.Gly169fs)
|
|
|
|
NM_004360.5(CDH1):c.521del (p.Asn174fs)
|
|
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
|
NM_004360.5(CDH1):c.52_53dup (p.Ser19fs)
|
rs1962455626
|
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
|
NM_004360.5(CDH1):c.537del (p.Lys179fs)
|
rs2152130050
|
|
|
NM_004360.5(CDH1):c.552_555del (p.Glu185fs)
|
rs2152130073
|
|
|
NM_004360.5(CDH1):c.553G>T (p.Glu185Ter)
|
|
|
|
NM_004360.5(CDH1):c.555del (p.Gly186fs)
|
rs2152130081
|
|
|
NM_004360.5(CDH1):c.55_74del (p.Ser19fs)
|
|
|
|
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter)
|
rs761753486
|
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
|
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)
|
rs1960737851
|
|
|
NM_004360.5(CDH1):c.586G>T (p.Gly196Ter)
|
|
|
|
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)
|
rs121964875
|
|
|
NM_004360.5(CDH1):c.602_603del (p.Pro201fs)
|
|
|
|
NM_004360.5(CDH1):c.602del (p.Pro201fs)
|
|
|
|
NM_004360.5(CDH1):c.602dup (p.Val202fs)
|
|
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
|
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)
|
rs786203576
|
|
|
NM_004360.5(CDH1):c.60del (p.Trp20fs)
|
rs2152114347
|
|
|
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
|
|
|
|
NM_004360.5(CDH1):c.631del (p.Thr211fs)
|
rs1597891145
|
|
|
NM_004360.5(CDH1):c.632_633del (p.Thr211fs)
|
|
|
|
NM_004360.5(CDH1):c.634G>T (p.Gly212Ter)
|
|
|
|
NM_004360.5(CDH1):c.638G>A (p.Trp213Ter)
|
|
|
|
NM_004360.5(CDH1):c.639G>A (p.Trp213Ter)
|
|
|
|
NM_004360.5(CDH1):c.639del (p.Trp213fs)
|
|
|
|
NM_004360.5(CDH1):c.640del (p.Trp213_Leu214insTer)
|
|
|
|
NM_004360.5(CDH1):c.641dup (p.Lys215fs)
|
|
|
|
NM_004360.5(CDH1):c.64_80del (p.Cys22fs)
|
|
|
|
NM_004360.5(CDH1):c.653_654del (p.Glu218fs)
|
|
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
|
NM_004360.5(CDH1):c.66C>A (p.Cys22Ter)
|
rs865838543
|
|
|
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter)
|
rs1962456814
|
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
|
NM_004360.5(CDH1):c.687+2T>C
|
rs1555515297
|
|
|
NM_004360.5(CDH1):c.688-1G>C
|
|
|
|
NM_004360.5(CDH1):c.696_697del (p.His233fs)
|
rs1060501214
|
|
|
NM_004360.5(CDH1):c.696_750del (p.His233fs)
|
|
|
|
NM_004360.5(CDH1):c.698dup (p.His233fs)
|
|
|
|
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)
|
rs121964876
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
|
NM_004360.5(CDH1):c.717del (p.Asn240fs)
|
|
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
|
NM_004360.5(CDH1):c.737_760delinsGGGC (p.Met246fs)
|
|
|
|
NM_004360.5(CDH1):c.763C>T (p.Gln255Ter)
|
|
|
|
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter)
|
rs786201058
|
|
|
NM_004360.5(CDH1):c.776del (p.Lys259fs)
|
|
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
|
NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)
|
rs876659503
|
|
|
NM_004360.5(CDH1):c.800_810del (p.Phe267fs)
|
rs1960785108
|
|
|
NM_004360.5(CDH1):c.807dup (p.Ser270fs)
|
|
|
|
NM_004360.5(CDH1):c.811_812delinsTTAAGGGATATA (p.Val271fs)
|
|
|
|
NM_004360.5(CDH1):c.817G>T (p.Glu273Ter)
|
|
|
|
NM_004360.5(CDH1):c.81del (p.Cys28fs)
|
|
|
|
NM_004360.5(CDH1):c.82del (p.Cys28fs)
|
rs1962457888
|
|
|
NM_004360.5(CDH1):c.830del (p.Pro277fs)
|
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
|
NM_004360.5(CDH1):c.841_844del (p.Val281fs)
|
|
|
|
NM_004360.5(CDH1):c.846_847delinsTT (p.Met282_Glu283delinsIleTer)
|
|
|
|
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
|
|
|
|
NM_004360.5(CDH1):c.854_855del (p.Thr285fs)
|
|
|
|
NM_004360.5(CDH1):c.86dup (p.His29fs)
|
|
|
|
NM_004360.5(CDH1):c.878dup (p.Asn294fs)
|
|
|
|
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
|
|
|
|
NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter)
|
rs895188181
|
|
|
NM_004360.5(CDH1):c.888C>G (p.Tyr296Ter)
|
|
|
|
NM_004360.5(CDH1):c.907del (p.Thr303fs)
|
rs2152131991
|
|
|
NM_004360.5(CDH1):c.919C>T (p.Gln307Ter)
|
|
|
|
NM_004360.5(CDH1):c.935del (p.Pro312fs)
|
rs2152132050
|
|
|
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
|
NM_004360.5(CDH1):c.943_944del (p.Asn315fs)
|
rs2152132067
|
|
|
NM_004360.5(CDH1):c.943_946del (p.Asn315fs)
|
|
|
|
NM_004360.5(CDH1):c.944del (p.Asn315fs)
|
|
|
|
NM_004360.5(CDH1):c.968del (p.Thr323fs)
|
|
|
|
NM_004360.5(CDH1):c.970G>T (p.Gly324Ter)
|
|
|
|
NM_004360.5(CDH1):c.971del (p.Gly324fs)
|
|
|
|
NM_004360.5(CDH1):c.988dup (p.Thr330fs)
|
rs2152132139
|
|
|
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)
|
rs121913469
|
|
|
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)
|
rs397516975
|
|
|
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup)
|
rs587776805
|
|
|
NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup)
|
rs397516981
|
|
|
NM_004448.4(ERBB2):c.2606T>G (p.Leu869Arg)
|
rs1131692237
|
|
|
NM_004465.2(FGF10):c.*1093A>G
|
|
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
|
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)
|
rs121908567
|
|
|
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)
|
rs119486096
|
|
|
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)
|
rs104894171
|
|
|
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)
|
rs121913238
|
|
|
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)
|
rs121913240
|
|
|
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)
|
rs121913240
|
|
|
NM_004985.5(KRAS):c.183A>C (p.Gln61His)
|
rs17851045
|
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
|
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)
|
rs121913535
|
|
|
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)
|
rs121913535
|
|
|
NM_004985.5(KRAS):c.38G>T (p.Gly13Val)
|
rs112445441
|
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
|
NM_005157.6(ABL1):c.1187A>G (p.His396Arg)
|
rs121913454
|
|
|
NM_005157.6(ABL1):c.764A>T (p.Glu255Val)
|
rs121913449
|
|
|
NM_005215.4(DCC):c.4124C>A (p.Pro1375His)
|
rs387906555
|
|
|
NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp)
|
rs397517086
|
|
|
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser)
|
rs28929495
|
|
|
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)
|
rs28929495
|
|
|
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)
|
rs121913428
|
|
|
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)
|
rs121913421
|
|
|
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)
|
rs121913465
|
|
|
NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile)
|
rs397517108
|
|
|
NM_005228.5(EGFR):c.2303_2305delinsTCT (p.Ser768_Val769delinsIleLeu)
|
rs1584238193
|
|
|
NM_005228.5(EGFR):c.2310_2311insGGGTTG (p.Asp770_Asn771insGlyLeu)
|
rs397517111
|
|
|
NM_005228.5(EGFR):c.2312_2314dup (p.Asn771_Pro772insHis)
|
rs397517112
|
|
|
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)
|
rs397517127
|
|
|
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)
|
rs121434568
|
|
|
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln)
|
rs121913444
|
|
|
NM_005343.4(HRAS):c.179G>T (p.Gly60Val)
|
rs730880460
|
|
|
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.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>C (p.Gly13Arg)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
|
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter)
|
rs121912576
|
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
|
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)
|
rs121912577
|
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
|
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His)
|
rs121912578
|
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
|
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter)
|
rs121912579
|
|
|
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)
|
rs2144427253
|
|
|
NM_005631.5(SMO):c.1417G>C (p.Asp473His)
|
rs17710891
|
|
|
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)
|
rs587780155
|
|
|
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)
|
rs1561635887
|
|
|
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)
|
rs267598140
|
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
|
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)
|
rs1057519927
|
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)
|
rs397517202
|
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
|
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)
|
rs587776802
|
|
|
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)
|
rs778238908
|
|
|
NM_006231.4(POLE):c.579-2A>G
|
rs2043088809
|
|
|
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)
|
rs727502780
|
|
|
NM_007194.3(CHEK2):c.909-?_1095+?del
|
|
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
|
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)
|
rs2145841361
|
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
|
NM_007194.4(CHEK2):c.1009-100_1095+3del
|
rs2145815434
|
|
|
NM_007194.4(CHEK2):c.1009-1264C>G
|
|
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
|
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs)
|
rs2145817523
|
|
|
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs)
|
rs1601727263
|
|
|
NM_007194.4(CHEK2):c.1022del (p.Asn341fs)
|
rs1569116316
|
|
|
NM_007194.4(CHEK2):c.1030del (p.Ile344fs)
|
rs2145817725
|
|
|
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
|
|
|
|
NM_007194.4(CHEK2):c.1039_1043del (p.Asp347fs)
|
|
|
|
NM_007194.4(CHEK2):c.1041del (p.Asp347_Leu348insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
|
NM_007194.4(CHEK2):c.1048_1049insA (p.Pro350fs)
|
|
|
|
NM_007194.4(CHEK2):c.1049del (p.Pro350fs)
|
rs1601727022
|
|
|
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
|
|
|
|
NM_007194.4(CHEK2):c.1050del (p.Glu351fs)
|
rs2052610542
|
|
|
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
|
|
|
|
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter)
|
rs2145816590
|
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
|
NM_007194.4(CHEK2):c.1065del (p.Ser356fs)
|
|
|
|
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter)
|
rs121908703
|
|
|
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer)
|
rs2145816053
|
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
|
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1075del (p.Glu359fs)
|
|
|
|
NM_007194.4(CHEK2):c.1077del (p.Glu360fs)
|
rs2145816035
|
|
|
NM_007194.4(CHEK2):c.107del (p.Gln36fs)
|
|
|
|
NM_007194.4(CHEK2):c.1085del (p.Cys362fs)
|
|
|
|
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)
|
rs1064793566
|
|
|
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs)
|
rs2145815556
|
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
|
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs)
|
rs2145806928
|
|
|
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs)
|
rs1555932583
|
|
|
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
|
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
|
NM_007194.4(CHEK2):c.1116del (p.Lys373fs)
|
rs1555913894
|
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
|
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs)
|
rs2052564279
|
|
|
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs)
|
rs2145806264
|
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
|
|
|
|
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
|
|
|
|
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs)
|
rs1601723175
|
|
|
NM_007194.4(CHEK2):c.1134del (p.Ser379fs)
|
rs1569114113
|
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
|
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter)
|
rs2145805017
|
|
|
NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)
|
|
|
|
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
|
|
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
|
NM_007194.4(CHEK2):c.1170del (p.Leu391fs)
|
rs2145804427
|
|
|
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
|
|
|
|
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
|
rs587780169
|
|
|
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)
|
rs1569113653
|
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
|
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs)
|
rs1569171106
|
|
|
NM_007194.4(CHEK2):c.1192dup (p.Ser398fs)
|
|
|
|
NM_007194.4(CHEK2):c.1193_1197del (p.Ser398fs)
|
|
|
|
NM_007194.4(CHEK2):c.1193del (p.Ser398fs)
|
rs2052556835
|
|
|
NM_007194.4(CHEK2):c.1197del (p.Thr401fs)
|
rs876658302
|
|
|
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)
|
rs876658302
|
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
|
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer)
|
rs1555913672
|
|
|
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs)
|
rs2052554226
|
|
|
NM_007194.4(CHEK2):c.1210_1216dup (p.Arg406delinsLeuTer)
|
|
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
|
NM_007194.4(CHEK2):c.1210del (p.Tyr404fs)
|
|
|
|
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
|
|
|
|
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)
|
rs587781836
|
|
|
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)
|
rs786203031
|
|
|
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)
|
rs773380144
|
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
|
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
|
NM_007194.4(CHEK2):c.123del (p.Ser42fs)
|
|
|
|
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)
|
rs878854913
|
|
|
NM_007194.4(CHEK2):c.1246del (p.Ile416fs)
|
rs2145801378
|
|
|
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs)
|
rs2145801350
|
|
|
NM_007194.4(CHEK2):c.1248del (p.Leu417fs)
|
rs2145801216
|
|
|
NM_007194.4(CHEK2):c.1250_1258delinsATCTTTTATCG (p.Leu417fs)
|
|
|
|
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
|
|
|
|
NM_007194.4(CHEK2):c.1254_1255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAGTTATTCTTTTT (p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
|
NM_007194.4(CHEK2):c.1258del (p.Cys420fs)
|
|
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.125del (p.Ser42fs)
|
|
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
|
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs)
|
rs2145796040
|
|
|
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
|
|
|
|
NM_007194.4(CHEK2):c.126_127insTG (p.Thr43Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
|
|
|
|
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
|
|
|
|
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
|
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
|
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
|
|
|
|
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
|
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
|
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
|
|
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
|
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)
|
rs1555913493
|
|
|
NM_007194.4(CHEK2):c.129del (p.Ser44fs)
|
|
|
|
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
|
NM_007194.4(CHEK2):c.1312dup (p.Asp438fs)
|
|
|
|
NM_007194.4(CHEK2):c.1314del (p.Gln439fs)
|
rs2145794535
|
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
|
|
|
|
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
|
|
|
|
NM_007194.4(CHEK2):c.1323del (p.Ser442fs)
|
rs1555913464
|
|
|
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1332del (p.Lys444fs)
|
rs2145794013
|
|
|
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter)
|
rs1214213337
|
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
|
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1335_1336del (p.Tyr445_Asn446delinsTer)
|
|
|
|
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer)
|
rs1601719449
|
|
|
NM_007194.4(CHEK2):c.1335_1342del (p.Asn446fs)
|
|
|
|
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
|
NM_007194.4(CHEK2):c.1341del (p.Phe447fs)
|
rs2145793726
|
|
|
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs)
|
rs2145793644
|
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
|
NM_007194.4(CHEK2):c.1347del (p.Glu450fs)
|
rs1601719287
|
|
|
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)
|
rs1555913429
|
|
|
NM_007194.4(CHEK2):c.1348del (p.Glu450fs)
|
|
|
|
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
|
|
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
|
NM_007194.4(CHEK2):c.1360_1361del (p.Glu454fs)
|
rs2052514918
|
|
|
NM_007194.4(CHEK2):c.1360_1361insCA (p.Glu454fs)
|
rs2145793110
|
|
|
NM_007194.4(CHEK2):c.1362del (p.Val455fs)
|
rs2145793028
|
|
|
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs)
|
rs2145792978
|
|
|
NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)
|
rs876659827
|
|
|
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs)
|
rs2052513579
|
|
|
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
|
|
|
|
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
|
|
|
|
NM_007194.4(CHEK2):c.1378del (p.Leu460fs)
|
|
|
|
NM_007194.4(CHEK2):c.1379del (p.Leu460fs)
|
rs2145786618
|
|
|
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1398del (p.Leu466fs)
|
|
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
|
NM_007194.4(CHEK2):c.1400del (p.Leu467fs)
|
rs2052472184
|
|
|
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
|
|
|
|
NM_007194.4(CHEK2):c.1420del (p.Arg474fs)
|
rs2145785415
|
|
|
NM_007194.4(CHEK2):c.1430del (p.Thr477fs)
|
rs2052468526
|
|
|
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)
|
rs2145784977
|
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
|
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
|
|
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1442del (p.Ala480_Leu481insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs)
|
rs1555913094
|
|
|
NM_007194.4(CHEK2):c.1443_1458dup (p.Gln487fs)
|
|
|
|
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1448dup (p.His483fs)
|
|
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
|
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)
|
rs1199577809
|
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
|
NM_007194.4(CHEK2):c.1455del (p.Trp485fs)
|
|
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
|
NM_007194.4(CHEK2):c.1481del (p.Lys494fs)
|
rs2052247122
|
|
|
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
|
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
|
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
|
|
|
|
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
|
|
|
|
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
|
|
|
|
NM_007194.4(CHEK2):c.14C>A (p.Ser5Ter)
|
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
|
NM_007194.4(CHEK2):c.1500_1501delinsAT (p.Glu501Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
|
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs)
|
rs1555932481
|
|
|
NM_007194.4(CHEK2):c.152del (p.Gln51fs)
|
|
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1542+1G>A
|
|
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
|
NM_007194.4(CHEK2):c.154del (p.Ser52fs)
|
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
|
NM_007194.4(CHEK2):c.161_164del (p.His54fs)
|
rs1569170839
|
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
|
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
|
|
|
|
NM_007194.4(CHEK2):c.179_180del (p.Leu60fs)
|
|
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
|
NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)
|
|
|
|
NM_007194.4(CHEK2):c.181del (p.Ser61fs)
|
rs1601852451
|
|
|
NM_007194.4(CHEK2):c.183del (p.Ser62fs)
|
rs2054322279
|
|
|
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer)
|
rs2054322016
|
|
|
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer)
|
rs2146148231
|
|
|
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs)
|
rs2054321037
|
|
|
NM_007194.4(CHEK2):c.199del (p.Ser67fs)
|
rs2054320626
|
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
|
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
|
|
|
|
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter)
|
rs878854917
|
|
|
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs)
|
rs2054319272
|
|
|
NM_007194.4(CHEK2):c.214_223del (p.Tyr72fs)
|
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
|
NM_007194.4(CHEK2):c.222del (p.Pro75fs)
|
rs2146147030
|
|
|
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
|
|
|
|
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs)
|
rs2146146624
|
|
|
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs)
|
rs2054316045
|
|
|
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
|
|
|
|
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
|
|
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
|
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
|
|
|
|
NM_007194.4(CHEK2):c.252del (p.Glu84fs)
|
rs1601851875
|
|
|
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
|
|
|
|
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
|
|
|
|
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
|
|
|
|
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs)
|
rs2054315696
|
|
|
NM_007194.4(CHEK2):c.269del (p.Pro90fs)
|
rs1555932231
|
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
|
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
|
|
|
|
NM_007194.4(CHEK2):c.271_272dup (p.Trp93fs)
|
|
|
|
NM_007194.4(CHEK2):c.271del (p.Ala91fs)
|
|
|
|
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
|
|
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
|
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)
|
rs786203889
|
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
|
NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)
|
|
|
|
NM_007194.4(CHEK2):c.288_289dup (p.Trp97fs)
|
|
|
|
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
|
|
|
|
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)
|
rs2054312626
|
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
|
NM_007194.4(CHEK2):c.295del (p.Leu99fs)
|
rs1601851248
|
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
|
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
|
|
|
|
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)
|
rs876659833
|
|
|
NM_007194.4(CHEK2):c.305del (p.Gly102fs)
|
rs2054311111
|
|
|
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
|
|
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
|
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
|
|
|
|
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
|
|
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
|
NM_007194.4(CHEK2):c.320-3970_454del
|
|
|
|
NM_007194.4(CHEK2):c.320-3970_455del
|
|
|
|
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer)
|
rs2053967484
|
|
|
NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)
|
|
|
|
NM_007194.4(CHEK2):c.326_327del (p.Val109fs)
|
rs1555927398
|
|
|
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs)
|
rs2146155758
|
|
|
NM_007194.4(CHEK2):c.335_341del (p.Asn112fs)
|
|
|
|
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
|
|
|
|
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs)
|
rs2053964098
|
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
|
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
|
|
|
|
NM_007194.4(CHEK2):c.33del (p.Gln11fs)
|
rs2146155911
|
|
|
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)
|
rs1555927374
|
|
|
NM_007194.4(CHEK2):c.349del (p.Arg117fs)
|
rs2146071079
|
|
|
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
|
|
|
|
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
|
|
|
|
NM_007194.4(CHEK2):c.359del (p.Ser120fs)
|
rs2146070648
|
|
|
NM_007194.4(CHEK2):c.360del (p.Cys121fs)
|
rs1601825829
|
|
|
NM_007194.4(CHEK2):c.361del (p.Cys121fs)
|
rs2146070522
|
|
|
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter)
|
rs1209379774
|
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
|
NM_007194.4(CHEK2):c.375del (p.Phe125fs)
|
|
|
|
NM_007194.4(CHEK2):c.383del (p.Pro128fs)
|
rs1569158776
|
|
|
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
|
NM_007194.4(CHEK2):c.393_397del (p.Lys131fs)
|
|
|
|
NM_007194.4(CHEK2):c.394del (p.Arg132fs)
|
|
|
|
NM_007194.4(CHEK2):c.397del (p.Thr133fs)
|
rs2053960596
|
|
|
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
|
|
|
|
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)
|
rs1569158640
|
|
|
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs)
|
rs2146068388
|
|
|
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
|
|
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
|
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)
|
rs911826883
|
|
|
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter)
|
rs911826883
|
|
|
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
|
|
|
|
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
|
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.417_418dup (p.Ser140fs)
|
|
|
|
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
|
|
|
|
NM_007194.4(CHEK2):c.41del (p.Gly14fs)
|
rs2146155398
|
|
|
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
|
|
|
|
NM_007194.4(CHEK2):c.426dup (p.His143fs)
|
|
|
|
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
|
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
|
NM_007194.4(CHEK2):c.432dup (p.Arg145fs)
|
rs1555927148
|
|
|
NM_007194.4(CHEK2):c.433del (p.Arg145fs)
|
rs1555927137
|
|
|
NM_007194.4(CHEK2):c.440del (p.Phe147fs)
|
|
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
|
NM_007194.4(CHEK2):c.448_461del (p.Val150fs)
|
rs2146061709
|
|
|
NM_007194.4(CHEK2):c.448del (p.Val150fs)
|
rs1555927038
|
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
|
NM_007194.4(CHEK2):c.452del (p.Gly151fs)
|
rs2053949167
|
|
|
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
|
|
|
|
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer)
|
rs2146060468
|
|
|
NM_007194.4(CHEK2):c.461del (p.Asn154fs)
|
|
|
|
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
|
|
|
|
NM_007194.4(CHEK2):c.464_465del (p.Ser155fs)
|
|
|
|
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter)
|
rs2053947943
|
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
|
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)
|
rs1555926996
|
|
|
NM_007194.4(CHEK2):c.469del (p.Ile157fs)
|
rs2146061284
|
|
|
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs)
|
rs2146154211
|
|
|
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
|
|
|
|
NM_007194.4(CHEK2):c.471del (p.Ile157fs)
|
rs2146061160
|
|
|
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
|
|
|
|
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
|
|
|
|
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
|
|
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
|
NM_007194.4(CHEK2):c.494del (p.Gly165fs)
|
rs1569157733
|
|
|
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs)
|
rs2146060162
|
|
|
NM_007194.4(CHEK2):c.502del (p.Thr168fs)
|
rs2146059921
|
|
|
NM_007194.4(CHEK2):c.504del (p.Phe169fs)
|
rs2146059828
|
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
|
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
|
|
|
|
NM_007194.4(CHEK2):c.50_53dup (p.Ser19fs)
|
|
|
|
NM_007194.4(CHEK2):c.512del (p.Asn171fs)
|
|
|
|
NM_007194.4(CHEK2):c.514dup (p.Thr172fs)
|
rs1601823546
|
|
|
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
|
|
|
|
NM_007194.4(CHEK2):c.518_519del (p.Glu173fs)
|
|
|
|
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
|
|
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
|
NM_007194.4(CHEK2):c.526_530del (p.Gly176fs)
|
|
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
|
NM_007194.4(CHEK2):c.531del (p.Gly178fs)
|
|
|
|
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
|
|
|
|
NM_007194.4(CHEK2):c.537del (p.Lys179fs)
|
rs2053940893
|
|
|
NM_007194.4(CHEK2):c.538del (p.Arg180fs)
|
|
|
|
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs)
|
rs2053939874
|
|
|
NM_007194.4(CHEK2):c.545dup (p.Leu183fs)
|
rs2146058345
|
|
|
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs)
|
rs2146058204
|
|
|
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
|
|
|
|
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer)
|
rs2146058204
|
|
|
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
|
|
|
|
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
|
|
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
|
NM_007194.4(CHEK2):c.55del (p.Ser19fs)
|
rs2146154644
|
|
|
NM_007194.4(CHEK2):c.561del (p.Glu188fs)
|
|
|
|
NM_007194.4(CHEK2):c.568_569delinsTG (p.Ala190Ter)
|
|
|
|
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)
|
rs1555932877
|
|
|
NM_007194.4(CHEK2):c.56dup (p.Gln20fs)
|
|
|
|
NM_007194.4(CHEK2):c.571del (p.Leu191fs)
|
|
|
|
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
|
|
|
|
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)
|
rs899211928
|
|
|
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
|
|
|
|
NM_007194.4(CHEK2):c.580dup (p.Ser194fs)
|
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
|
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)
|
rs2053696720
|
|
|
NM_007194.4(CHEK2):c.600del (p.Phe202fs)
|
rs1555924538
|
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.606_607insSVAelement
|
|
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.607del (p.Asp203fs)
|
|
|
|
NM_007194.4(CHEK2):c.614_615del (p.Thr205fs)
|
|
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
|
NM_007194.4(CHEK2):c.621del (p.Asp207fs)
|
rs1569150017
|
|
|
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs)
|
|
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
|
NM_007194.4(CHEK2):c.625del (p.Gln209fs)
|
|
|
|
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
|
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
|
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
|
|
|
|
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter)
|
rs2053693149
|
|
|
NM_007194.4(CHEK2):c.644del (p.Ala215fs)
|
rs2146006030
|
|
|
NM_007194.4(CHEK2):c.647T>G (p.Leu216Ter)
|
|
|
|
NM_007194.4(CHEK2):c.647dup (p.Leu216fs)
|
|
|
|
NM_007194.4(CHEK2):c.649del (p.Arg217fs)
|
|
|
|
NM_007194.4(CHEK2):c.64del (p.His22fs)
|
rs2054335480
|
|
|
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
|
rs1601805632
|
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
|
NM_007194.4(CHEK2):c.656_657del (p.Glu219fs)
|
|
|
|
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
|
|
|
|
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs)
|
rs2146005603
|
|
|
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs)
|
rs2053691104
|
|
|
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
|
|
|
|
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs)
|
rs2146005334
|
|
|
NM_007194.4(CHEK2):c.663del (p.Met222fs)
|
|
|
|
NM_007194.4(CHEK2):c.664_676del (p.Met222fs)
|
rs2146004773
|
|
|
NM_007194.4(CHEK2):c.664del (p.Met222fs)
|
rs2146005256
|
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
|
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer)
|
rs2146005039
|
|
|
NM_007194.4(CHEK2):c.669_679del (p.Thr225fs)
|
|
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
|
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
|
|
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
|
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
|
|
|
|
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
|
|
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
|
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs)
|
rs2146157133
|
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
|
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
|
NM_007194.4(CHEK2):c.706del (p.Leu236fs)
|
rs1555921290
|
|
|
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
|
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
|
NM_007194.4(CHEK2):c.716del (p.Glu239fs)
|
|
|
|
NM_007194.4(CHEK2):c.718del (p.Arg240fs)
|
rs2145951649
|
|
|
NM_007194.4(CHEK2):c.720_736del (p.Arg240fs)
|
|
|
|
NM_007194.4(CHEK2):c.721A>T (p.Lys241Ter)
|
|
|
|
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
|
|
|
|
NM_007194.4(CHEK2):c.724del (p.Thr242fs)
|
rs2145951385
|
|
|
NM_007194.4(CHEK2):c.725del (p.Thr242fs)
|
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
|
NM_007194.4(CHEK2):c.728_729del (p.Thr242_Cys243insTer)
|
|
|
|
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)
|
rs2145951132
|
|
|
NM_007194.4(CHEK2):c.72_81del (p.Val25fs)
|
|
|
|
NM_007194.4(CHEK2):c.72dup (p.Val25fs)
|
|
|
|
NM_007194.4(CHEK2):c.731dup (p.Lys245fs)
|
|
|
|
NM_007194.4(CHEK2):c.732_733del (p.Lys245fs)
|
|
|
|
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter)
|
rs1601783375
|
|
|
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer)
|
rs2053412352
|
|
|
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs)
|
rs2145949099
|
|
|
NM_007194.4(CHEK2):c.739_751del (p.Ala247fs)
|
|
|
|
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
|
|
|
|
NM_007194.4(CHEK2):c.743dup (p.Ile250fs)
|
rs2145950548
|
|
|
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
|
|
|
|
NM_007194.4(CHEK2):c.750del (p.Ile251fs)
|
rs2145950251
|
|
|
NM_007194.4(CHEK2):c.756del (p.Ser252fs)
|
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
|
NM_007194.4(CHEK2):c.760del (p.Arg254fs)
|
rs2145949827
|
|
|
NM_007194.4(CHEK2):c.762del (p.Lys255fs)
|
rs1131691044
|
|
|
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter)
|
rs2053408810
|
|
|
NM_007194.4(CHEK2):c.768dup (p.Ala257fs)
|
rs2145949535
|
|
|
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
|
|
|
|
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs)
|
rs2145949378
|
|
|
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
|
|
|
|
NM_007194.4(CHEK2):c.776del (p.Gly259fs)
|
rs2053407842
|
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
|
NM_007194.4(CHEK2):c.777_780dup (p.Ala261fs)
|
|
|
|
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter)
|
rs1060502710
|
|
|
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
|
|
|
|
NM_007194.4(CHEK2):c.779del (p.Gly259_Ser260insTer)
|
rs2145949157
|
|
|
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
|
|
|
|
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs)
|
rs1060502687
|
|
|
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)
|
rs730881686
|
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
|
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)
|
rs1601853585
|
|
|
NM_007194.4(CHEK2):c.792+2T>A
|
rs545982789
|
|
|
NM_007194.4(CHEK2):c.793-15T>G
|
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
|
NM_007194.4(CHEK2):c.79del (p.Gln27fs)
|
rs2146153237
|
|
|
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs)
|
rs2053336290
|
|
|
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs)
|
rs2053335818
|
|
|
NM_007194.4(CHEK2):c.808del (p.Val270fs)
|
|
|
|
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
|
|
|
|
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
|
|
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
|
NM_007194.4(CHEK2):c.820dup (p.Ile274fs)
|
|
|
|
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)
|
rs749963436
|
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
|
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
|
|
|
|
NM_007194.4(CHEK2):c.82del (p.Ser28fs)
|
rs2146153089
|
|
|
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter)
|
rs1555920150
|
|
|
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
|
|
|
|
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
|
|
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
|
NM_007194.4(CHEK2):c.842dup (p.Asn281fs)
|
rs2053330207
|
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
|
NM_007194.4(CHEK2):c.847-1002_908+1031del
|
|
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
|
NM_007194.4(CHEK2):c.850del (p.Cys284fs)
|
|
|
|
NM_007194.4(CHEK2):c.851del (p.Cys284fs)
|
|
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
|
|
|
NM_007194.4(CHEK2):c.869del (p.Asn290fs)
|
rs1422634212
|
|
|
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs)
|
rs2052980434
|
|
|
NM_007194.4(CHEK2):c.870del (p.Phe292fs)
|
rs1555916987
|
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
|
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
|
|
|
|
NM_007194.4(CHEK2):c.879del (p.Asp293fs)
|
rs1555916968
|
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
|
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
|
|
|
|
NM_007194.4(CHEK2):c.892del (p.Tyr298fs)
|
rs2145877300
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
|
NM_007194.4(CHEK2):c.893dup (p.Tyr298Ter)
|
|
|
|
NM_007194.4(CHEK2):c.894T>A (p.Tyr298Ter)
|
|
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
|
NM_007194.4(CHEK2):c.894dup (p.Ile299fs)
|
|
|
|
NM_007194.4(CHEK2):c.897del (p.Ile299fs)
|
|
|
|
NM_007194.4(CHEK2):c.898del (p.Val300fs)
|
|
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
|
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
|
|
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
|
NM_007194.4(CHEK2):c.908+1540_1095+330del
|
|
|
|
NM_007194.4(CHEK2):c.908+715_1095+298del
|
|
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
|
NM_007194.4(CHEK2):c.909-49_1095+51del
|
|
|
|
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
|
rs1555915533
|
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
|
|
|
NM_007194.4(CHEK2):c.919_940del (p.Gly307fs)
|
rs2145844027
|
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.921del (p.Glu308fs)
|
|
|
|
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
|
|
|
|
NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
|
|
|
|
NM_007194.4(CHEK2):c.938del (p.Val313fs)
|
rs2052766776
|
|
|
NM_007194.4(CHEK2):c.945del (p.Asn316fs)
|
rs2052765649
|
|
|
NM_007194.4(CHEK2):c.948del (p.Asn316fs)
|
rs2052765413
|
|
|
NM_007194.4(CHEK2):c.94del (p.Ser32fs)
|
rs2146152456
|
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
|
NM_007194.4(CHEK2):c.956del (p.Leu319fs)
|
|
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
|
NM_007194.4(CHEK2):c.963del (p.Ala322fs)
|
rs2052762437
|
|
|
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs)
|
rs2145842905
|
|
|
NM_007194.4(CHEK2):c.971del (p.Cys324fs)
|
rs1569121172
|
|
|
NM_007194.4(CHEK2):c.974del (p.Lys325fs)
|
rs1555915409
|
|
|
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
|
|
|
|
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs)
|
rs1555915392
|
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
|
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
|
|
|
|
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
|
|
|
|
NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)
|
|
|
|
NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)
|
|
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
|
NM_007194.4(CHEK2):c.989del (p.Gln330fs)
|
rs2052759328
|
|
|
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
|
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
|
NM_007194.4(CHEK2):c.990del (p.Met331fs)
|
rs1601738338
|
|
|
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
|
|
|
|
NM_007194.4(CHEK2):c.993del (p.Met331fs)
|
|
|
|
NM_007194.4(CHEK2):c.995del (p.Leu332fs)
|
rs2052758032
|
|
|
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs)
|
rs2145841388
|
|
|
NM_007194.4(CHEK2):c.998T>A (p.Leu333Ter)
|
rs2145841647
|
|
|
NM_007194.4(CHEK2):c.99del (p.Gln34fs)
|
|
|
|
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
|
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?del
|
|
|
|
NM_007294.3(BRCA1):c.4186-?_4675+?del
|
|
|
|
NM_007294.3(BRCA1):c.4186-?_4986+?del
|
|
|
|
NM_007294.3(BRCA1):c.4358-?_5277+?del
|
|
|
|
NM_007294.3(BRCA1):c.4485-?_4986+?del
|
|
|
|
NM_007294.3(BRCA1):c.4987-?_5074+?del
|
|
|
|
NM_007294.3(BRCA1):c.548-?_5193+?del
|
|
|
|
NM_007294.3(BRCA1):c.?-232_4484+?del
|
|
|
|
NM_007294.3:c.1363insT
|
|
|
|
NM_007294.3:c.3764insA
|
|
|
|
NM_007294.4(BRCA1):c.-107A>T
|
rs2154580237
|
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
|
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)
|
rs80357068
|
|
|
NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer)
|
rs2154471163
|
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
|
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)
|
rs80357046
|
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
|
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer)
|
rs2154458213
|
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
|
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter)
|
rs2053932763
|
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
|
NM_007294.4(BRCA1):c.1728del (p.Glu577fs)
|
rs397507192
|
|
|
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)
|
rs397507192
|
|
|
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs)
|
rs1380657206
|
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
|
NM_007294.4(BRCA1):c.1952del (p.Lys651fs)
|
rs80357885
|
|
|
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs)
|
rs80357522
|
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
|
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)
|
rs397508926
|
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
|
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs)
|
rs80357602
|
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
|
NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter)
|
rs786203523
|
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
|
NM_007294.4(BRCA1):c.2683del (p.Gln895fs)
|
rs2154364983
|
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
|
NM_007294.4(BRCA1):c.2802del (p.Asp936fs)
|
rs2053694038
|
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
|
NM_007294.4(BRCA1):c.2938del (p.Ile980fs)
|
rs730881439
|
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
|
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
|
rs2154347100
|
|
|
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)
|
rs80357004
|
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
|
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)
|
rs1555588016
|
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
|
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs)
|
rs80357571
|
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
|
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs)
|
rs80357767
|
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
|
NM_007294.4(BRCA1):c.3823dup (p.Ile1275fs)
|
rs2154283296
|
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
|
NM_007294.4(BRCA1):c.3982del (p.Ser1328fs)
|
rs2053490037
|
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
|
NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs)
|
rs886040192
|
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
|
NM_007294.4(BRCA1):c.4185+1G>A
|
rs80358076
|
|
|
NM_007294.4(BRCA1):c.4237del (p.Glu1413fs)
|
rs2154157535
|
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
|
NM_007294.4(BRCA1):c.4342del (p.Ser1448fs)
|
rs886040225
|
|
|
NM_007294.4(BRCA1):c.4372_4373del (p.Gln1458fs)
|
rs879255317
|
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
|
NM_007294.4(BRCA1):c.4406dup (p.Glu1470fs)
|
rs2052734372
|
|
|
NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter)
|
rs876658381
|
|
|
NM_007294.4(BRCA1):c.4467del (p.Glu1490fs)
|
rs2154059325
|
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)
|
rs80356953
|
|
|
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)
|
rs747539984
|
|
|
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)
|
rs786202631
|
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
|
NM_007294.4(BRCA1):c.4624_4628del (p.Ser1542fs)
|
rs2153997899
|
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
|
NM_007294.4(BRCA1):c.4675+1G>T
|
rs80358044
|
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
|
NM_007294.4(BRCA1):c.4818del (p.Val1607fs)
|
rs1555580883
|
|
|
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)
|
rs80357833
|
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
|
NM_007294.4(BRCA1):c.4987-5T>C
|
rs397509214
|
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
|
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs)
|
rs2153700736
|
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
|
NM_007294.4(BRCA1):c.5153-2A>C
|
rs786202545
|
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
|
NM_007294.4(BRCA1):c.5205del (p.Val1736fs)
|
rs587781258
|
|
|
NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs)
|
rs886040278
|
|
|
NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter)
|
rs1567806048
|
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
|
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)
|
rs80357791
|
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
|
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter)
|
rs397509308
|
|
|
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)
|
rs886040308
|
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
|
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer)
|
rs397509312
|
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
|
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)
|
rs886040319
|
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
|
NM_007294.4(BRCA1):c.938T>G (p.Leu313Ter)
|
rs1407786310
|
|
|
NM_007294.4(BRCA1):c.968del (p.Gly323fs)
|
rs2154481843
|
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
|
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
|
|
|
|
NM_014883.4(FAM13A):c.2465C>T (p.Pro822Leu)
|
|
|
|
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)
|
rs137852869
|
|
|
NM_016218.6(POLK):c.*66T>C
|
rs786205688
|
|
|
NM_016218.6(POLK):c.1256A>G (p.Glu419Gly)
|
rs111584802
|
|
|
NM_016218.6(POLK):c.1289A>G (p.Glu430Gly)
|
rs1554062741
|
|
|
NM_016218.6(POLK):c.1324C>T (p.Leu442Phe)
|
rs1554062789
|
|
|
NM_016218.6(POLK):c.1341G>A (p.Gln447=)
|
rs1554062804
|
|
|
NM_016218.6(POLK):c.1345G>A (p.Glu449Lys)
|
rs1304454699
|
|
|
NM_016218.6(POLK):c.1381A>G (p.Lys461Glu)
|
rs1554063600
|
|
|
NM_016218.6(POLK):c.1460T>C (p.Ile487Thr)
|
rs1554063656
|
|
|
NM_016218.6(POLK):c.1582A>T (p.Ser528Cys)
|
rs139591993
|
|
|
NM_016218.6(POLK):c.1652A>T (p.Asp551Val)
|
rs1554064175
|
|
|
NM_016218.6(POLK):c.1692G>A (p.Lys564=)
|
rs781194178
|
|
|
NM_016218.6(POLK):c.1741G>A (p.Asp581Asn)
|
rs863225457
|
|
|
NM_016218.6(POLK):c.2033C>T (p.Ser678Phe)
|
rs863225455
|
|
|
NM_016218.6(POLK):c.2192T>A (p.Leu731His)
|
rs863225456
|
|
|
NM_016218.6(POLK):c.2598T>G (p.Asp866Glu)
|
rs1554064740
|
|
|
NM_016218.6(POLK):c.410C>T (p.Ser137Phe)
|
rs863225454
|
|
|
NM_016218.6(POLK):c.461G>A (p.Gly154Glu)
|
rs749804502
|
|
|
NM_016218.6(POLK):c.464T>C (p.Phe155Ser)
|
rs1554059550
|
|
|
NM_016218.6(POLK):c.512T>C (p.Phe171Ser)
|
rs1554059573
|
|
|
NM_016373.4(WWOX):c.1056G>C (p.Met352Ile)
|
rs2151386374
|
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
|
NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter)
|
rs121912582
|
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
|
NM_017763.6(RNF43):c.1995del (p.Gly666fs)
|
|
|
|
NM_017763.6(RNF43):c.337C>T (p.Arg113Ter)
|
rs1567880628
|
|
|
NM_017763.6(RNF43):c.394C>T (p.Arg132Ter)
|
rs786205215
|
|
|
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter)
|
rs766731755
|
|
|
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)
|
rs797044990
|
|
|
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
|
|
|
|
NM_020975.4(RET):c.[2410G>A;2711C>G]
|
|
|
|
NM_020975.4(RET):c.[2410G>A;2832C>G]
|
|
|
|
NM_020975.6(RET):c.1001G>A (p.Trp334Ter)
|
|
|
|
NM_020975.6(RET):c.1044_1051dup (p.Val351fs)
|
|
|
|
NM_020975.6(RET):c.1091_1104del (p.Ile364fs)
|
|
|
|
NM_020975.6(RET):c.1151del (p.Pro384fs)
|
rs1837854100
|
|
|
NM_020975.6(RET):c.1160del (p.Gly387fs)
|
|
|
|
NM_020975.6(RET):c.1252C>T (p.Arg418Ter)
|
rs2132747295
|
|
|
NM_020975.6(RET):c.1315C>T (p.Gln439Ter)
|
rs2132767341
|
|
|
NM_020975.6(RET):c.1347C>A (p.Cys449Ter)
|
|
|
|
NM_020975.6(RET):c.1471C>T (p.Gln491Ter)
|
rs1397494237
|
|
|
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)
|
|
|
|
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys)
|
rs377767434
|
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
|
NM_020975.6(RET):c.1698del (p.Asp567fs)
|
|
|
|
NM_020975.6(RET):c.1783G>T (p.Glu595Ter)
|
rs1483605155
|
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
|
NM_020975.6(RET):c.1826G>C (p.Cys609Ser)
|
rs77939446
|
|
|
NM_020975.6(RET):c.1826G>T (p.Cys609Phe)
|
rs77939446
|
|
|
NM_020975.6(RET):c.1831T>A (p.Cys611Ser)
|
rs377767391
|
|
|
NM_020975.6(RET):c.1831T>C (p.Cys611Arg)
|
rs377767391
|
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
|
NM_020975.6(RET):c.1832G>T (p.Cys611Phe)
|
rs377767397
|
|
|
NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)
|
rs377767398
|
|
|
NM_020975.6(RET):c.1833C>G (p.Cys611Trp)
|
rs80069458
|
|
|
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)
|
rs76262710
|
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
|
NM_020975.6(RET):c.1853G>T (p.Cys618Phe)
|
rs79781594
|
|
|
NM_020975.6(RET):c.1858T>A (p.Cys620Ser)
|
rs77316810
|
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
|
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)
|
rs77316810
|
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
|
NM_020975.6(RET):c.1860C>G (p.Cys620Trp)
|
rs79890926
|
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
|
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)
|
rs377767405
|
|
|
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)
|
rs377767406
|
|
|
NM_020975.6(RET):c.1899_1900delinsTC (p.Cys634Arg)
|
|
|
|
NM_020975.6(RET):c.1900T>A (p.Cys634Ser)
|
rs75076352
|
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
|
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)
|
rs75996173
|
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
|
NM_020975.6(RET):c.1901_1902delinsTT (p.Cys634Phe)
|
|
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
|
NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly)
|
|
|
|
NM_020975.6(RET):c.1919C>G (p.Ala640Gly)
|
rs78935588
|
|
|
NM_020975.6(RET):c.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs)
|
|
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
|
NM_020975.6(RET):c.229C>T (p.Arg77Cys)
|
rs1588862595
|
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
|
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
|
|
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
|
NM_020975.6(RET):c.2427C>A (p.Tyr809Ter)
|
rs577929869
|
|
|
NM_020975.6(RET):c.255G>A (p.Trp85Ter)
|
|
|
|
NM_020975.6(RET):c.2631del (p.Arg878fs)
|
rs1838178970
|
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
|
NM_020975.6(RET):c.2689C>T (p.Arg897Ter)
|
rs1060500759
|
|
|
NM_020975.6(RET):c.268G>T (p.Glu90Ter)
|
rs1588862638
|
|
|
NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
|
rs78347871
|
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
|
NM_020975.6(RET):c.2865dup (p.Pro956fs)
|
rs1564500612
|
|
|
NM_020975.6(RET):c.317G>A (p.Trp106Ter)
|
rs2132664970
|
|
|
NM_020975.6(RET):c.318G>A (p.Trp106Ter)
|
rs2132664999
|
|
|
NM_020975.6(RET):c.538C>T (p.Arg180Ter)
|
rs76449634
|
|
|
NM_020975.6(RET):c.936_939del (p.Arg312fs)
|
rs1837778621
|
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
|
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs)
|
rs1677132309
|
|
|
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)
|
rs2103178097
|
|
|
NM_024529.5(CDC73):c.1052del (p.Pro351fs)
|
rs1553288362
|
|
|
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
|
|
|
|
NM_024529.5(CDC73):c.10del (p.Val4fs)
|
rs2103111548
|
|
|
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
|
|
|
|
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)
|
rs1677688362
|
|
|
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
|
|
|
|
NM_024529.5(CDC73):c.1247del (p.Gly416fs)
|
rs1572215344
|
|
|
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)
|
rs121434263
|
|
|
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)
|
rs1558276082
|
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
|
NM_024529.5(CDC73):c.131+1G>T
|
rs587776558
|
|
|
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
|
|
|
|
NM_024529.5(CDC73):c.1397del (p.Pro466fs)
|
rs2102061886
|
|
|
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)
|
rs587776561
|
|
|
NM_024529.5(CDC73):c.1405dup (p.Ile469fs)
|
rs1677757559
|
|
|
NM_024529.5(CDC73):c.1417dup (p.Ile473fs)
|
rs2102061912
|
|
|
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter)
|
rs1675541893
|
|
|
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)
|
rs121434265
|
|
|
NM_024529.5(CDC73):c.17del (p.Ser6fs)
|
|
|
|
NM_024529.5(CDC73):c.1A>G (p.Met1Val)
|
rs1558276054
|
|
|
NM_024529.5(CDC73):c.201del (p.His68fs)
|
rs2103114004
|
|
|
NM_024529.5(CDC73):c.220dup (p.Tyr74fs)
|
rs1572142597
|
|
|
NM_024529.5(CDC73):c.237+1G>A
|
rs794727303
|
|
|
NM_024529.5(CDC73):c.237+1G>C
|
rs794727303
|
|
|
NM_024529.5(CDC73):c.245del (p.Asn82fs)
|
rs1060500009
|
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
|
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
|
|
|
|
NM_024529.5(CDC73):c.2dup (p.Met1fs)
|
|
|
|
NM_024529.5(CDC73):c.331del (p.Ser111fs)
|
rs2103121472
|
|
|
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)
|
rs2103121496
|
|
|
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
|
|
|
|
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)
|
rs886041278
|
|
|
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)
|
rs1572150469
|
|
|
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
|
|
|
|
NM_024529.5(CDC73):c.375dup (p.Arg126fs)
|
rs1572150584
|
|
|
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)
|
rs1553278844
|
|
|
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter)
|
rs2103121703
|
|
|
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)
|
rs2103121721
|
|
|
NM_024529.5(CDC73):c.423+1G>A
|
rs1131691732
|
|
|
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
|
|
|
|
NM_024529.5(CDC73):c.455_456del (p.Arg152fs)
|
rs1060500019
|
|
|
NM_024529.5(CDC73):c.483dup (p.Glu162fs)
|
rs1553279085
|
|
|
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter)
|
rs2103123807
|
|
|
NM_024529.5(CDC73):c.4del (p.Ala2fs)
|
rs1060500020
|
|
|
NM_024529.5(CDC73):c.501_502del (p.Glu168fs)
|
rs2103123824
|
|
|
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)
|
rs1553279088
|
|
|
NM_024529.5(CDC73):c.510del (p.Arg171fs)
|
rs2103123828
|
|
|
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
|
|
|
|
NM_024529.5(CDC73):c.53_54del (p.Ile18fs)
|
rs1558276157
|
|
|
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
|
|
|
|
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)
|
rs2103126261
|
|
|
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter)
|
rs2103126265
|
|
|
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)
|
rs1675465013
|
|
|
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)
|
rs770439843
|
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
|
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)
|
rs760591174
|
|
|
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)
|
rs760591174
|
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
|
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
|
|
|
|
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)
|
rs1675915231
|
|
|
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
|
|
|
|
NM_024529.5(CDC73):c.718del (p.Ser240fs)
|
rs1572154885
|
|
|
NM_024529.5(CDC73):c.7dup (p.Asp3fs)
|
rs1675462891
|
|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
|
|
|
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)
|
rs1131691698
|
|
|
NM_024529.5(CDC73):c.85del (p.Glu29fs)
|
rs587776560
|
|
|
NM_024529.5(CDC73):c.877dup (p.Tyr293fs)
|
rs2103132218
|
|
|
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter)
|
rs2103132220
|
|
|
NM_024529.5(CDC73):c.893del (p.Phe298fs)
|
rs2103132250
|
|
|
NM_024529.5(CDC73):c.96del (p.Trp32fs)
|
|
|
|
NM_024529.5(CDC73):c.99del (p.Lys34fs)
|
|
|
|
NM_024675.3(PALB2):c.-200_3113+?del
|
|
|
|
NM_024675.3(PALB2):c.1050_1051delinsTCT (p.Gln350fs)
|
rs180177098
|
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
|
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)
|
rs1555460682
|
|
|
NM_024675.3(PALB2):c.2835-281_3113+1374del
|
|
|
|
NM_024675.3(PALB2):c.2835-324_3202-1757dup
|
|
|
|
NM_024675.3(PALB2):c.3114-?_*(1_?)del
|
|
|
|
NM_024675.3(PALB2):c.3114-?_3201+?del
|
|
|
|
NM_024675.3(PALB2):c.3202-?_3350+?del
|
|
|
|
NM_024675.3(PALB2):c.3351-?_*(1_?)del
|
|
|
|
NM_024675.3(PALB2):c.3351-?_*297del
|
|
|
|
NM_024675.4(PALB2):c.-4_15del (p.Met1fs)
|
|
|
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
rs1967002667
|
|
|
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
|
|
|
|
NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter)
|
rs45494092
|
|
|
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter)
|
rs45494092
|
|
|
NM_024675.4(PALB2):c.1010del (p.Leu337fs)
|
rs1967002076
|
|
|
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
|
|
|
|
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
|
|
|
|
NM_024675.4(PALB2):c.1013del (p.Pro338fs)
|
|
|
|
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter)
|
rs2142428256
|
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
|
NM_024675.4(PALB2):c.1031del (p.Asn344fs)
|
rs1485260432
|
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
|
NM_024675.4(PALB2):c.1037_1038del (p.Lys346fs)
|
rs1597097438
|
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
|
NM_024675.4(PALB2):c.1038del (p.Glu347fs)
|
rs1597097438
|
|
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
rs1060499812
|
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
|
NM_024675.4(PALB2):c.1042del (p.Gln348fs)
|
rs1597097408
|
|
|
NM_024675.4(PALB2):c.1046del (p.Asn349fs)
|
rs1555461484
|
|
|
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)
|
rs1060499813
|
|
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
rs1060502788
|
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
|
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs)
|
rs2142426926
|
|
|
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)
|
rs1555461460
|
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
|
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
|
|
|
|
NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs)
|
|
|
|
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)
|
rs1555461472
|
|
|
NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs)
|
rs2142426807
|
|
|
NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs)
|
rs1064795168
|
|
|
NM_024675.4(PALB2):c.1068dup (p.Ser357fs)
|
|
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
|
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs)
|
rs1555461467
|
|
|
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs)
|
rs2142426385
|
|
|
NM_024675.4(PALB2):c.1082del (p.Thr361fs)
|
|
|
|
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer)
|
rs1597097182
|
|
|
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)
|
rs786203399
|
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
|
NM_024675.4(PALB2):c.1097dup (p.Asn366fs)
|
|
|
|
NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs)
|
|
|
|
NM_024675.4(PALB2):c.1103_1110del (p.Asn368fs)
|
|
|
|
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs)
|
rs2142425504
|
|
|
NM_024675.4(PALB2):c.1107del (p.Gln370fs)
|
|
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
|
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
|
|
|
|
NM_024675.4(PALB2):c.1114del (p.Ser372fs)
|
|
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
rs1597097072
|
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
|
NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer)
|
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
|
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
|
|
|
|
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer)
|
rs1567221521
|
|
|
NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs)
|
|
|
|
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs)
|
rs2142424706
|
|
|
NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs)
|
|
|
|
NM_024675.4(PALB2):c.1152del (p.Ala385fs)
|
rs1567221493
|
|
|
NM_024675.4(PALB2):c.1156del (p.Thr386fs)
|
rs1597096949
|
|
|
NM_024675.4(PALB2):c.1156dup (p.Thr386fs)
|
rs1597096949
|
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
|
NM_024675.4(PALB2):c.1161del (p.Pro388fs)
|
rs1966989564
|
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
|
NM_024675.4(PALB2):c.1168dup (p.Ser390fs)
|
rs1966988658
|
|
|
NM_024675.4(PALB2):c.1170del (p.Ala391fs)
|
rs2142423901
|
|
|
NM_024675.4(PALB2):c.1179dup (p.His394fs)
|
rs1567221417
|
|
|
NM_024675.4(PALB2):c.1183del (p.Ser395fs)
|
rs1555461415
|
|
|
NM_024675.4(PALB2):c.1186dup (p.Cys396fs)
|
rs1555461413
|
|
|
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
|
|
|
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
rs587780817
|
|
|
NM_024675.4(PALB2):c.1189del (p.Thr397fs)
|
|
|
|
NM_024675.4(PALB2):c.118del (p.Arg40fs)
|
rs1597101532
|
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
|
NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs)
|
|
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
|
NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs)
|
|
|
|
NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs)
|
|
|
|
NM_024675.4(PALB2):c.120del (p.Ala41fs)
|
|
|
|
NM_024675.4(PALB2):c.1212del (p.Pro405fs)
|
|
|
|
NM_024675.4(PALB2):c.1212dup (p.Pro405fs)
|
rs1567221328
|
|
|
NM_024675.4(PALB2):c.1216del (p.Ala406fs)
|
rs876659741
|
|
|
NM_024675.4(PALB2):c.1217_1218insTT (p.Ala406_Glu407insTer)
|
|
|
|
NM_024675.4(PALB2):c.1223_1224dup (p.Tyr409fs)
|
rs2142422279
|
|
|
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter)
|
rs1966983494
|
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
|
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
|
NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer)
|
|
|
|
NM_024675.4(PALB2):c.1234del (p.Thr412fs)
|
|
|
|
NM_024675.4(PALB2):c.123del (p.Glu42fs)
|
rs1967104136
|
|
|
NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs)
|
|
|
|
NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs)
|
|
|
|
NM_024675.4(PALB2):c.1248del (p.Met416fs)
|
rs1966981959
|
|
|
NM_024675.4(PALB2):c.1263del (p.Lys422_Val423insTer)
|
rs2142421147
|
|
|
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)
|
rs1555461366
|
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
|
NM_024675.4(PALB2):c.128dup (p.Ile44fs)
|
|
|
|
NM_024675.4(PALB2):c.1291_1292del (p.His432fs)
|
rs786203057
|
|
|
NM_024675.4(PALB2):c.1296_1306del (p.His432fs)
|
|
|
|
NM_024675.4(PALB2):c.12dup (p.Pro5fs)
|
rs879254062
|
|
|
NM_024675.4(PALB2):c.1314del (p.Phe440fs)
|
rs515726065
|
|
|
NM_024675.4(PALB2):c.1314dup (p.Gly439fs)
|
rs515726065
|
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
|
NM_024675.4(PALB2):c.1317dup (p.Phe440fs)
|
rs515726067
|
|
|
NM_024675.4(PALB2):c.1319_1320insSVAelement
|
|
|
|
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter)
|
rs2142419403
|
|
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
rs1555461339
|
|
|
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
|
|
|
|
NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA (p.Ser448delinsIleLysIleTer)
|
rs2142418871
|
|
|
NM_024675.4(PALB2):c.1342del (p.Ser448fs)
|
|
|
|
NM_024675.4(PALB2):c.1343del (p.Ser448fs)
|
|
|
|
NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs)
|
|
|
|
NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter)
|
rs1966974831
|
|
|
NM_024675.4(PALB2):c.1352dup (p.Leu451fs)
|
rs1597096326
|
|
|
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs)
|
rs2142418386
|
|
|
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
|
|
|
|
NM_024675.4(PALB2):c.1362del (p.Asn455fs)
|
rs1555461323
|
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
|
NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)
|
rs878855099
|
|
|
NM_024675.4(PALB2):c.1369del (p.Glu457fs)
|
rs2142418150
|
|
|
NM_024675.4(PALB2):c.136_148del (p.His46fs)
|
rs2142457035
|
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
|
NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter)
|
|
|
|
NM_024675.4(PALB2):c.1382del (p.Ser461fs)
|
|
|
|
NM_024675.4(PALB2):c.1386_1390dup (p.Arg464fs)
|
rs2142417496
|
|
|
NM_024675.4(PALB2):c.1392del (p.Met465fs)
|
|
|
|
NM_024675.4(PALB2):c.1394_1395insAGAC (p.Met465fs)
|
|
|
|
NM_024675.4(PALB2):c.1397_1399delinsT (p.Ser466fs)
|
|
|
|
NM_024675.4(PALB2):c.1400del (p.Gly467fs)
|
|
|
|
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs)
|
|
|
|
NM_024675.4(PALB2):c.1408del (p.Thr470fs)
|
rs2142416902
|
|
|
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
|
|
|
|
NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs)
|
|
|
|
NM_024675.4(PALB2):c.1416del (p.Gln472fs)
|
|
|
|
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs)
|
|
|
|
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)
|
rs886039479
|
|
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
rs886039479
|
|
|
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer)
|
rs1555461295
|
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
|
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)
|
rs876659341
|
|
|
NM_024675.4(PALB2):c.1426del (p.Arg476fs)
|
rs1184981956
|
|
|
NM_024675.4(PALB2):c.1427dup (p.Thr477fs)
|
rs2142416277
|
|
|
NM_024675.4(PALB2):c.1429del (p.Thr477fs)
|
rs1555461287
|
|
|
NM_024675.4(PALB2):c.1431del (p.Ser478fs)
|
rs587776412
|
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
|
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)
|
rs1060502761
|
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
rs1057520653
|
|
|
NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs)
|
|
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
|
NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)
|
|
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
rs1057520736
|
|
|
NM_024675.4(PALB2):c.1450_1453dup (p.Thr485fs)
|
|
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
|
NM_024675.4(PALB2):c.1453del (p.Thr485fs)
|
|
|
|
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs)
|
rs2142415370
|
|
|
NM_024675.4(PALB2):c.1465del (p.Ser489fs)
|
rs1064793220
|
|
|
NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs)
|
rs879253960
|
|
|
NM_024675.4(PALB2):c.1468_1470delinsTTAACTAAAGTCA (p.Pro490fs)
|
rs1966964908
|
|
|
NM_024675.4(PALB2):c.1476del (p.Thr494fs)
|
|
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
|
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)
|
rs886039620
|
|
|
NM_024675.4(PALB2):c.1524del (p.Gly509fs)
|
|
|
|
NM_024675.4(PALB2):c.1529_1535del (p.Arg510fs)
|
|
|
|
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter)
|
rs1966959467
|
|
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
rs1567220802
|
|
|
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
|
|
|
|
NM_024675.4(PALB2):c.1538del (p.Thr513fs)
|
rs879253892
|
|
|
NM_024675.4(PALB2):c.1539dup (p.Gly514fs)
|
rs1567220784
|
|
|
NM_024675.4(PALB2):c.1541del (p.Gly514fs)
|
|
|
|
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
|
|
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
|
NM_024675.4(PALB2):c.1546dup (p.Arg516fs)
|
rs587781560
|
|
|
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)
|
rs2142412914
|
|
|
NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter)
|
|
|
|
NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs)
|
|
|
|
NM_024675.4(PALB2):c.1551dup (p.Ser518fs)
|
|
|
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
rs1060502805
|
|
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
|
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
|
|
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
|
NM_024675.4(PALB2):c.1575del (p.His526fs)
|
rs2142412137
|
|
|
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
|
|
|
|
NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs)
|
|
|
|
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs)
|
rs180177102
|
|
|
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs)
|
rs587776414
|
|
|
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
|
|
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
|
NM_024675.4(PALB2):c.1597del (p.Thr533fs)
|
rs2142411591
|
|
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
|
|
|
NM_024675.4(PALB2):c.1613_1619del (p.Ile538fs)
|
rs1966952995
|
|
|
NM_024675.4(PALB2):c.1614del (p.Ile538fs)
|
|
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
|
NM_024675.4(PALB2):c.1627_1639delinsTT (p.Lys543fs)
|
|
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
|
|
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
rs1241049372
|
|
|
NM_024675.4(PALB2):c.1644del (p.His549fs)
|
|
|
|
NM_024675.4(PALB2):c.1645del (p.His549fs)
|
|
|
|
NM_024675.4(PALB2):c.1647del (p.His549fs)
|
|
|
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
rs1555461178
|
|
|
NM_024675.4(PALB2):c.1650del (p.Lys550fs)
|
rs886039624
|
|
|
NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs)
|
rs2142410052
|
|
|
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter)
|
rs1555461176
|
|
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
rs118203997
|
|
|
NM_024675.4(PALB2):c.1653del (p.Gln552fs)
|
rs1555461174
|
|
|
NM_024675.4(PALB2):c.1668dup (p.Phe557fs)
|
|
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
|
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
|
|
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
|
NM_024675.4(PALB2):c.1677dup (p.Val560fs)
|
|
|
|
NM_024675.4(PALB2):c.1692_1693del (p.Arg566fs)
|
|
|
|
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)
|
rs876659354
|
|
|
NM_024675.4(PALB2):c.1702del (p.Gln568fs)
|
|
|
|
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)
|
rs1060502759
|
|
|
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)
|
rs1060502759
|
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
|
NM_024675.4(PALB2):c.1714del (p.Ser572fs)
|
rs879254121
|
|
|
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
|
|
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
|
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
|
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
|
NM_024675.4(PALB2):c.1731_1732insC (p.Ser578fs)
|
|
|
|
NM_024675.4(PALB2):c.1733del (p.Ser578fs)
|
|
|
|
NM_024675.4(PALB2):c.1735_1736dup (p.Tyr580fs)
|
rs2142390444
|
|
|
NM_024675.4(PALB2):c.173dup (p.Leu58fs)
|
rs2142456344
|
|
|
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
|
|
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
|
NM_024675.4(PALB2):c.1742del (p.Leu581fs)
|
rs1060502803
|
|
|
NM_024675.4(PALB2):c.1751del (p.Asp584fs)
|
rs1966866862
|
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
|
NM_024675.4(PALB2):c.1758del (p.Asp586fs)
|
rs2142389968
|
|
|
NM_024675.4(PALB2):c.1759del (p.Ala587fs)
|
rs2142389921
|
|
|
NM_024675.4(PALB2):c.1765_1771del (p.Thr589fs)
|
rs1597091247
|
|
|
NM_024675.4(PALB2):c.1776dup (p.His593fs)
|
rs1597091230
|
|
|
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)
|
rs1966866081
|
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
rs886039747
|
|
|
NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs)
|
|
|
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
rs1966865838
|
|
|
NM_024675.4(PALB2):c.179_189del (p.Gln60fs)
|
|
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
|
NM_024675.4(PALB2):c.1807del (p.Leu603fs)
|
rs2142388816
|
|
|
NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer)
|
|
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
|
NM_024675.4(PALB2):c.1819del (p.Leu607fs)
|
|
|
|
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)
|
rs1967100637
|
|
|
NM_024675.4(PALB2):c.1823_1824del (p.Ser608fs)
|
|
|
|
NM_024675.4(PALB2):c.1824dup (p.Ile609fs)
|
rs1966865368
|
|
|
NM_024675.4(PALB2):c.1828del (p.Thr610fs)
|
|
|
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
rs1966865214
|
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
|
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
|
|
|
|
NM_024675.4(PALB2):c.1845del (p.Asp616fs)
|
rs1555460627
|
|
|
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)
|
rs1567218690
|
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
|
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
|
|
|
|
NM_024675.4(PALB2):c.185del (p.Asp62fs)
|
|
|
|
NM_024675.4(PALB2):c.1872_1891del (p.Glu625fs)
|
rs1966864164
|
|
|
NM_024675.4(PALB2):c.1873del (p.Glu625fs)
|
rs1555460609
|
|
|
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs)
|
rs1597090903
|
|
|
NM_024675.4(PALB2):c.1881del (p.Lys628fs)
|
|
|
|
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter)
|
rs1597090894
|
|
|
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
|
|
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
|
NM_024675.4(PALB2):c.1911del (p.Phe638fs)
|
rs2142386226
|
|
|
NM_024675.4(PALB2):c.1914del (p.Phe638fs)
|
rs1555460593
|
|
|
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)
|
rs1555460592
|
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
rs760094988
|
|
|
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
|
|
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
|
NM_024675.4(PALB2):c.1926del (p.Met642fs)
|
|
|
|
NM_024675.4(PALB2):c.192_193del (p.Pro65fs)
|
rs2142455866
|
|
|
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs)
|
rs1555460584
|
|
|
NM_024675.4(PALB2):c.1942_1945delinsAAC (p.Leu648fs)
|
rs1966863076
|
|
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
rs1555460579
|
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
|
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
|
|
|
|
NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs)
|
|
|
|
NM_024675.4(PALB2):c.1958_1959insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAAGCTG (p.Cys653fs)
|
rs2142385006
|
|
|
NM_024675.4(PALB2):c.1959_1966del (p.Ile654fs)
|
|
|
|
NM_024675.4(PALB2):c.1965del (p.Pro656fs)
|
rs1597090596
|
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
|
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)
|
rs786204129
|
|
|
NM_024675.4(PALB2):c.1968_1976delinsGG (p.Glu657fs)
|
|
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
|
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter)
|
rs1555460542
|
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
|
NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs)
|
rs2142384476
|
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
|
NM_024675.4(PALB2):c.1988dup (p.Met664fs)
|
rs1966862297
|
|
|
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs)
|
rs2142384044
|
|
|
NM_024675.4(PALB2):c.1990del (p.Met664fs)
|
rs1966862226
|
|
|
NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer)
|
|
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
|
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
|
|
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
|
NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter)
|
rs45532440
|
|
|
NM_024675.4(PALB2):c.2014del (p.Glu672fs)
|
rs1966861952
|
|
|
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter)
|
rs1966861886
|
|
|
NM_024675.4(PALB2):c.2016dup (p.Glu673fs)
|
rs1966861906
|
|
|
NM_024675.4(PALB2):c.201_204dup (p.His69fs)
|
|
|
|
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)
|
rs2142383242
|
|
|
NM_024675.4(PALB2):c.2020del (p.Asp674fs)
|
rs1966861838
|
|
|
NM_024675.4(PALB2):c.2026dup (p.Ile676fs)
|
rs2142383088
|
|
|
NM_024675.4(PALB2):c.2032del (p.Leu678fs)
|
rs730881866
|
|
|
NM_024675.4(PALB2):c.2036del (p.Pro679fs)
|
rs2142382796
|
|
|
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
|
|
|
|
NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter)
|
rs2142382651
|
|
|
NM_024675.4(PALB2):c.2043del (p.Lys681fs)
|
|
|
|
NM_024675.4(PALB2):c.2043dup (p.Ser682fs)
|
|
|
|
NM_024675.4(PALB2):c.204del (p.Lys68fs)
|
rs1555462031
|
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
|
NM_024675.4(PALB2):c.2056del (p.Arg686fs)
|
rs1060502771
|
|
|
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)
|
rs749602688
|
|
|
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)
|
rs2142382015
|
|
|
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
|
|
|
|
NM_024675.4(PALB2):c.2072del (p.Ser691fs)
|
|
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
|
NM_024675.4(PALB2):c.2079del (p.His693fs)
|
rs878855105
|
|
|
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)
|
rs1567218141
|
|
|
NM_024675.4(PALB2):c.2092del (p.Leu698fs)
|
rs1060499819
|
|
|
NM_024675.4(PALB2):c.2095dup (p.Ser699fs)
|
|
|
|
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)
|
rs763745734
|
|
|
NM_024675.4(PALB2):c.20dup (p.Pro8fs)
|
|
|
|
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs)
|
rs1555460490
|
|
|
NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer)
|
|
|
|
NM_024675.4(PALB2):c.2105dup (p.Leu703fs)
|
rs2142381049
|
|
|
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)
|
rs2142380816
|
|
|
NM_024675.4(PALB2):c.212-1G>A
|
rs1597099910
|
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
|
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)
|
rs1597090059
|
|
|
NM_024675.4(PALB2):c.2128dup (p.Thr710fs)
|
|
|
|
NM_024675.4(PALB2):c.2133del (p.Ala712fs)
|
|
|
|
NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs)
|
|
|
|
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)
|
rs515726081
|
|
|
NM_024675.4(PALB2):c.2154del (p.Arg718fs)
|
rs730881867
|
|
|
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)
|
rs1555460465
|
|
|
NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs)
|
|
|
|
NM_024675.4(PALB2):c.2161del (p.Thr721fs)
|
rs1597089904
|
|
|
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
|
|
|
|
NM_024675.4(PALB2):c.2177dup (p.Ala727fs)
|
|
|
|
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
|
|
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
|
NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs)
|
rs1567217908
|
|
|
NM_024675.4(PALB2):c.2187del (p.Ile730fs)
|
rs1567217908
|
|
|
NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer)
|
|
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
|
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)
|
rs1555460457
|
|
|
NM_024675.4(PALB2):c.2205del (p.Ala736fs)
|
rs587782892
|
|
|
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
|
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
|
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)
|
rs1555460442
|
|
|
NM_024675.4(PALB2):c.2220del (p.Gly741fs)
|
rs1597089741
|
|
|
NM_024675.4(PALB2):c.2222del (p.Gly741fs)
|
rs2142377985
|
|
|
NM_024675.4(PALB2):c.2223_2224delinsG
|
rs1567217830
|
|
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
rs730881888
|
|
|
NM_024675.4(PALB2):c.2235del (p.Ala746fs)
|
rs1966858562
|
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
|
NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs)
|
|
|
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
rs1555460431
|
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
|
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)
|
rs1555460423
|
|
|
NM_024675.4(PALB2):c.2255del (p.Gly752fs)
|
rs2142377240
|
|
|
NM_024675.4(PALB2):c.2261del (p.Thr754fs)
|
|
|
|
NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs)
|
|
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
|
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)
|
rs515726083
|
|
|
NM_024675.4(PALB2):c.2278del (p.Ala761fs)
|
|
|
|
NM_024675.4(PALB2):c.2281_2287del (p.Leu760_Ala761insTer)
|
|
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
|
NM_024675.4(PALB2):c.2292dup (p.Asp765fs)
|
|
|
|
NM_024675.4(PALB2):c.2295del (p.Ser766fs)
|
rs1597089469
|
|
|
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)
|
rs876658170
|
|
|
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
|
|
|
|
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
|
|
|
|
NM_024675.4(PALB2):c.2297del (p.Asp765_Ser766insTer)
|
|
|
|
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)
|
rs1597089434
|
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
|
NM_024675.4(PALB2):c.2305del (p.Ala770fs)
|
|
|
|
NM_024675.4(PALB2):c.2310del (p.Ser771fs)
|
|
|
|
NM_024675.4(PALB2):c.2317dup (p.Thr773fs)
|
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
|
NM_024675.4(PALB2):c.2328del (p.Phe776fs)
|
rs1966857445
|
|
|
NM_024675.4(PALB2):c.232_233del (p.Val78fs)
|
rs776284609
|
|
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
rs1833331932
|
|
|
NM_024675.4(PALB2):c.2352dup (p.Pro785fs)
|
|
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
|
NM_024675.4(PALB2):c.2359dup (p.Thr787fs)
|
rs2142374794
|
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
|
NM_024675.4(PALB2):c.2369_2372del (p.Gln790fs)
|
rs1966856962
|
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
|
NM_024675.4(PALB2):c.2382_2383delinsTT (p.Arg794_Gln795delinsSerTer)
|
rs2142374295
|
|
|
NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs)
|
|
|
|
NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter)
|
rs1966856854
|
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
|
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)
|
rs587780211
|
|
|
NM_024675.4(PALB2):c.2391del (p.Gln797fs)
|
rs1555460360
|
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
|
NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter)
|
|
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
|
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)
|
rs1966856585
|
|
|
NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs)
|
|
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
|
NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)
|
rs1064795507
|
|
|
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
|
|
|
|
NM_024675.4(PALB2):c.2425del (p.Thr809fs)
|
|
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
|
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
|
|
|
|
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
|
|
|
|
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
|
|
|
|
NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs)
|
|
|
|
NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs)
|
|
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
|
NM_024675.4(PALB2):c.2462del (p.Asn821fs)
|
|
|
|
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
|
|
|
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
rs1555460323
|
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
|
NM_024675.4(PALB2):c.2476_2477dup (p.Asn826fs)
|
|
|
|
NM_024675.4(PALB2):c.2477del (p.Asn826fs)
|
|
|
|
NM_024675.4(PALB2):c.2479del (p.Thr827fs)
|
rs1597088811
|
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
|
NM_024675.4(PALB2):c.2480del (p.Thr827fs)
|
|
|
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
rs1966855759
|
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
|
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
|
|
|
|
NM_024675.4(PALB2):c.249del (p.His83fs)
|
|
|
|
NM_024675.4(PALB2):c.24_25del (p.Leu9fs)
|
rs2142481327
|
|
|
NM_024675.4(PALB2):c.2503del (p.Ser835fs)
|
|
|
|
NM_024675.4(PALB2):c.2506dup (p.Val836fs)
|
rs1966855544
|
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
|
NM_024675.4(PALB2):c.2512_2513del (p.Gln838fs)
|
|
|
|
NM_024675.4(PALB2):c.2521del (p.Thr841fs)
|
rs180177116
|
|
|
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)
|
rs786203382
|
|
|
NM_024675.4(PALB2):c.2527_2548del (p.Ala842_Glu843insTer)
|
rs2142368508
|
|
|
NM_024675.4(PALB2):c.2528del (p.Glu843fs)
|
|
|
|
NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs)
|
|
|
|
NM_024675.4(PALB2):c.2549del (p.Ile850fs)
|
rs2142368459
|
|
|
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
|
|
|
|
NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs)
|
|
|
|
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
|
|
|
|
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)
|
rs1597088146
|
|
|
NM_024675.4(PALB2):c.2563del (p.Leu855fs)
|
rs1966853795
|
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
|
NM_024675.4(PALB2):c.2570dup (p.Leu857fs)
|
|
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
|
NM_024675.4(PALB2):c.2576_2577del (p.Val858_Ser859insTer)
|
|
|
|
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
|
|
|
|
NM_024675.4(PALB2):c.2579del (p.Glu860fs)
|
|
|
|
NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter)
|
|
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
|
NM_024675.4(PALB2):c.2586+1G>A
|
|
|
|
NM_024675.4(PALB2):c.2586+1G>T
|
rs1375713365
|
|
|
NM_024675.4(PALB2):c.2587-404_2834+310del
|
|
|
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
rs746604683
|
|
|
NM_024675.4(PALB2):c.2597del (p.Gly866fs)
|
rs786204156
|
|
|
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
|
|
|
|
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer)
|
rs1966842803
|
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
|
NM_024675.4(PALB2):c.2607dup (p.Val870fs)
|
rs767633741
|
|
|
NM_024675.4(PALB2):c.2613del (p.Asp871fs)
|
|
|
|
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
|
|
|
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
rs876660678
|
|
|
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)
|
rs2142355316
|
|
|
NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter)
|
rs2142355636
|
|
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
rs1555459999
|
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
|
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
|
|
|
|
NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs)
|
|
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
|
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
|
|
|
|
NM_024675.4(PALB2):c.2649dup (p.Glu884fs)
|
|
|
|
NM_024675.4(PALB2):c.264del (p.Asp89fs)
|
|
|
|
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)
|
rs1304351755
|
|
|
NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs)
|
|
|
|
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
|
|
|
|
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)
|
rs78179744
|
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
|
NM_024675.4(PALB2):c.2686del (p.Ser896fs)
|
rs1555459954
|
|
|
NM_024675.4(PALB2):c.2686dup (p.Ser896fs)
|
rs1555459954
|
|
|
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
|
|
|
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
|
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)
|
rs1555459949
|
|
|
NM_024675.4(PALB2):c.2702del (p.Leu901fs)
|
|
|
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
rs1060502726
|
|
|
NM_024675.4(PALB2):c.2711_2712delinsAA (p.Trp904Ter)
|
|
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
|
NM_024675.4(PALB2):c.2712del (p.Trp904fs)
|
|
|
|
NM_024675.4(PALB2):c.2716del (p.Trp906fs)
|
rs1966842388
|
|
|
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
|
|
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
|
NM_024675.4(PALB2):c.2725del (p.Leu909fs)
|
|
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
|
NM_024675.4(PALB2):c.2728del (p.Tyr910fs)
|
rs730881869
|
|
|
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
|
|
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
|
NM_024675.4(PALB2):c.2742del (p.Phe914fs)
|
rs1966842281
|
|
|
NM_024675.4(PALB2):c.2743dup (p.Ala915fs)
|
|
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
|
NM_024675.4(PALB2):c.2748+1G>C
|
rs753153576
|
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
|
NM_024675.4(PALB2):c.274dup (p.Thr92fs)
|
rs1567223192
|
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
|
NM_024675.4(PALB2):c.2759dup (p.Leu920fs)
|
|
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
|
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)
|
rs180177124
|
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
|
NM_024675.4(PALB2):c.2767del (p.Val923fs)
|
|
|
|
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs)
|
rs1597082866
|
|
|
NM_024675.4(PALB2):c.2771del (p.Pro924fs)
|
rs2142344237
|
|
|
NM_024675.4(PALB2):c.2773del (p.Val925fs)
|
rs1597082860
|
|
|
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer)
|
rs587776418
|
|
|
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs)
|
rs587776418
|
|
|
NM_024675.4(PALB2):c.2787_2802del (p.Val928_Tyr929insTer)
|
|
|
|
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs)
|
rs2142343437
|
|
|
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
|
|
|
|
NM_024675.4(PALB2):c.2818del (p.Glu940fs)
|
rs1555459709
|
|
|
NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs)
|
|
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
|
NM_024675.4(PALB2):c.2834+1G>C
|
rs587776419
|
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
|
NM_024675.4(PALB2):c.2834+2T>G
|
rs864622481
|
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
|
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)
|
rs1597081571
|
|
|
NM_024675.4(PALB2):c.2845del (p.Cys949fs)
|
|
|
|
NM_024675.4(PALB2):c.284dup (p.Thr96fs)
|
rs1555461846
|
|
|
NM_024675.4(PALB2):c.2850del (p.Ser951fs)
|
rs1060499824
|
|
|
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)
|
rs879254015
|
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
|
NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)
|
rs515726103
|
|
|
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
|
|
|
|
NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter)
|
rs1567213829
|
|
|
NM_024675.4(PALB2):c.2876_2877dup (p.Leu960fs)
|
rs2142337034
|
|
|
NM_024675.4(PALB2):c.2876dup (p.Leu960fs)
|
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
|
NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs)
|
|
|
|
NM_024675.4(PALB2):c.290dup (p.Ile98fs)
|
rs1967057527
|
|
|
NM_024675.4(PALB2):c.2915del (p.Leu972fs)
|
rs1555459553
|
|
|
NM_024675.4(PALB2):c.2919_2920insG (p.Lys974fs)
|
|
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
|
NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs)
|
rs786204122
|
|
|
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs)
|
rs1966801432
|
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
|
NM_024675.4(PALB2):c.2936del (p.Ser979fs)
|
rs1060502781
|
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
|
NM_024675.4(PALB2):c.2950del (p.Leu984fs)
|
rs1966800194
|
|
|
NM_024675.4(PALB2):c.2953del (p.Ser985fs)
|
rs1597081202
|
|
|
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)
|
rs875989792
|
|
|
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
|
|
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
|
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)
|
rs1555459528
|
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
|
NM_024675.4(PALB2):c.2966del (p.Val989fs)
|
rs2142334934
|
|
|
NM_024675.4(PALB2):c.2966dup (p.Glu990fs)
|
rs2142334914
|
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
|
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)
|
rs1966798806
|
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
|
NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs)
|
|
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
|
NM_024675.4(PALB2):c.298del (p.Asp101fs)
|
|
|
|
NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter)
|
|
|
|
NM_024675.4(PALB2):c.2994del (p.Gly999fs)
|
|
|
|
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
|
|
|
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)
|
rs1597079941
|
|
|
NM_024675.4(PALB2):c.2999del (p.Gly1000fs)
|
rs1966773290
|
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
|
|
|
NM_024675.4(PALB2):c.3003del (p.Glu1002fs)
|
|
|
|
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
|
|
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
|
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
|
|
|
|
NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs)
|
|
|
|
NM_024675.4(PALB2):c.3008del (p.Asn1003fs)
|
rs1567213009
|
|
|
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs)
|
rs1567213009
|
|
|
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
|
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
|
NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
|
|
|
|
NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
|
|
|
|
NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
|
|
|
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
|
|
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
rs1966771907
|
|
|
NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs)
|
|
|
|
NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs)
|
rs1597079810
|
|
|
NM_024675.4(PALB2):c.3041dup (p.Thr1015fs)
|
rs1966771199
|
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
|
NM_024675.4(PALB2):c.3048dup (p.Ala1017fs)
|
|
|
|
NM_024675.4(PALB2):c.3050dup (p.Ala1017_Glu1018insTer)
|
|
|
|
NM_024675.4(PALB2):c.3052del (p.Glu1018fs)
|
rs2142327301
|
|
|
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
rs2142327117
|
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
|
NM_024675.4(PALB2):c.306del (p.Pro104fs)
|
|
|
|
NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
|
|
|
|
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
|
|
|
|
NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)
|
|
|
|
NM_024675.4(PALB2):c.3081del (p.Gly1028fs)
|
rs2142326602
|
|
|
NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn)
|
rs2142326522
|
|
|
NM_024675.4(PALB2):c.3105del (p.Ile1035fs)
|
|
|
|
NM_024675.4(PALB2):c.3108_3112del (p.Ile1037fs)
|
rs2142325956
|
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
|
NM_024675.4(PALB2):c.3114-1_3201+2del
|
rs2142298541
|
|
|
NM_024675.4(PALB2):c.3114-239A>T
|
|
|
|
NM_024675.4(PALB2):c.3114-3511_3201+191del
|
|
|
|
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
rs778345761
|
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
|
NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
|
|
|
|
NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
|
|
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
|
NM_024675.4(PALB2):c.3126del (p.Gly1043fs)
|
rs1966637056
|
|
|
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs)
|
rs1567209922
|
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
|
NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
|
|
|
|
NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
|
|
|
|
NM_024675.4(PALB2):c.3143del (p.Lys1048fs)
|
rs1555458822
|
|
|
NM_024675.4(PALB2):c.314_315del (p.Glu105fs)
|
rs1967055393
|
|
|
NM_024675.4(PALB2):c.3150_3151del (p.His1050_Ile1051insTer)
|
|
|
|
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs)
|
rs1555458815
|
|
|
NM_024675.4(PALB2):c.3161del (p.Ser1054fs)
|
|
|
|
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)
|
rs1567209835
|
|
|
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
rs876658157
|
|
|
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)
|
rs876658157
|
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
|
NM_024675.4(PALB2):c.3174dup (p.Val1059fs)
|
|
|
|
NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs)
|
|
|
|
NM_024675.4(PALB2):c.3179_3180insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNTTTATTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAAGCTTCAGTCTGG (p.Cys1060fs)
|
|
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
|
NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
|
|
NM_024675.4(PALB2):c.318del (p.Phe107fs)
|
rs1967055062
|
|
|
NM_024675.4(PALB2):c.3193dup (p.Ser1065fs)
|
|
|
|
NM_024675.4(PALB2):c.31del (p.Cys11fs)
|
|
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
|
NM_024675.4(PALB2):c.3210_3211del (p.Phe1071fs)
|
|
|
|
NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs)
|
|
|
|
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)
|
rs786202008
|
|
|
NM_024675.4(PALB2):c.3228del (p.Cys1078fs)
|
rs1555458223
|
|
|
NM_024675.4(PALB2):c.3231del (p.Cys1078fs)
|
|
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
|
NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
|
|
|
|
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)
|
rs879254060
|
|
|
NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
|
|
|
|
NM_024675.4(PALB2):c.3242_3245del (p.Glu1081fs)
|
|
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
|
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs)
|
rs876658136
|
|
|
NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
|
|
|
|
NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter)
|
|
|
|
NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs)
|
rs1966510953
|
|
|
NM_024675.4(PALB2):c.3249_3253delinsAGCC
|
rs1567206909
|
|
|
NM_024675.4(PALB2):c.3249_3258del (p.Ser1084fs)
|
rs2142273197
|
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
|
NM_024675.4(PALB2):c.3263del (p.Pro1088fs)
|
rs1966509881
|
|
|
NM_024675.4(PALB2):c.3264del (p.Val1089fs)
|
|
|
|
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs)
|
rs587781890
|
|
|
NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
|
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
|
NM_024675.4(PALB2):c.3272dup (p.Leu1092fs)
|
|
|
|
NM_024675.4(PALB2):c.3285delinsGTTAATG (p.Ile1095delinsMetLeuMet)
|
|
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
|
NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
|
|
|
|
NM_024675.4(PALB2):c.3291del (p.Lys1098fs)
|
|
|
|
NM_024675.4(PALB2):c.3293_3296dup (p.Thr1100fs)
|
|
|
|
NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs)
|
|
|
|
NM_024675.4(PALB2):c.3295_3310delinsCGTGGT (p.Thr1099fs)
|
rs1966506715
|
|
|
NM_024675.4(PALB2):c.3296del (p.Thr1099fs)
|
rs1966508003
|
|
|
NM_024675.4(PALB2):c.3296dup (p.Thr1100fs)
|
|
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
|
NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs)
|
rs1567206813
|
|
|
NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs)
|
|
|
|
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
|
|
|
|
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)
|
rs1555458187
|
|
|
NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs)
|
rs1567206804
|
|
|
NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
|
|
|
|
NM_024675.4(PALB2):c.3305_3306insACGCTCAG (p.Ser1102fs)
|
rs2142272095
|
|
|
NM_024675.4(PALB2):c.3313dup (p.Val1105fs)
|
|
|
|
NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
|
|
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
|
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
|
|
NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs)
|
|
|
|
NM_024675.4(PALB2):c.3333del (p.Pro1112fs)
|
|
|
|
NM_024675.4(PALB2):c.3339del (p.Gln1114fs)
|
|
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
|
NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs)
|
|
|
|
NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
|
NM_024675.4(PALB2):c.3351-1G>A
|
rs1597062406
|
|
|
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)
|
rs876658773
|
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
|
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)
|
rs876660574
|
|
|
NM_024675.4(PALB2):c.3386_3399dup (p.Ser1134delinsGlnGlnSerTer)
|
|
|
|
NM_024675.4(PALB2):c.338del (p.Pro113fs)
|
rs1555461825
|
|
|
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs)
|
|
|
|
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)
|
rs1597062296
|
|
|
NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter)
|
|
|
|
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)
|
rs876660492
|
|
|
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
|
|
|
|
NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
|
|
|
|
NM_024675.4(PALB2):c.3407del (p.Thr1136fs)
|
|
|
|
NM_024675.4(PALB2):c.3411del (p.Ile1137fs)
|
|
|
|
NM_024675.4(PALB2):c.3412del (p.Ala1138fs)
|
|
|
|
NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
|
|
|
|
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)
|
rs878855118
|
|
|
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)
|
rs1555457878
|
|
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
rs1555457878
|
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
|
NM_024675.4(PALB2):c.3432del (p.Gly1145fs)
|
|
|
|
NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs)
|
|
|
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
rs1597099523
|
|
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
rs1555457867
|
|
|
NM_024675.4(PALB2):c.3449_3455del (p.Leu1150fs)
|
|
|
|
NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs)
|
|
|
|
NM_024675.4(PALB2):c.3455del (p.Pro1152fs)
|
rs1597062083
|
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
|
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer)
|
rs2142253220
|
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
|
NM_024675.4(PALB2):c.3475del (p.Trp1159fs)
|
rs2142252950
|
|
|
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)
|
rs587782050
|
|
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
rs1597061983
|
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
|
NM_024675.4(PALB2):c.347dup (p.Leu116fs)
|
|
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
|
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
|
rs879254113
|
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
|
NM_024675.4(PALB2):c.3494dup (p.Thr1167fs)
|
rs2142252484
|
|
|
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs)
|
rs587776427
|
|
|
NM_024675.4(PALB2):c.3498_3502del (p.Thr1167fs)
|
rs2142252096
|
|
|
NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA (p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2142252136
|
|
|
NM_024675.4(PALB2):c.3501_3504del (p.Asp1168fs)
|
rs2142251992
|
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
|
NM_024675.4(PALB2):c.3528_3540del (p.Lys1176fs)
|
rs2142251164
|
|
|
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
|
|
|
|
NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)
|
rs1567204928
|
|
|
NM_024675.4(PALB2):c.3543del (p.Phe1181fs)
|
rs1567204928
|
|
|
NM_024675.4(PALB2):c.3544_3545insA (p.Val1182fs)
|
|
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
|
NM_024675.4(PALB2):c.355del (p.Gln119fs)
|
rs1060502760
|
|
|
NM_024675.4(PALB2):c.35del (p.Glu12fs)
|
rs876659063
|
|
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
|
|
|
NM_024675.4(PALB2):c.373del (p.Gln125fs)
|
|
|
|
NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)
|
rs373287455
|
|
|
NM_024675.4(PALB2):c.390del (p.His130fs)
|
rs2142444567
|
|
|
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)
|
rs1567222943
|
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
|
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
|
|
|
|
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs)
|
|
|
|
NM_024675.4(PALB2):c.419del (p.Lys140fs)
|
rs1597099331
|
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
|
NM_024675.4(PALB2):c.420del (p.Lys140fs)
|
rs2142443848
|
|
|
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)
|
rs886039686
|
|
|
NM_024675.4(PALB2):c.421del (p.Gln141fs)
|
|
|
|
NM_024675.4(PALB2):c.425del (p.Lys142fs)
|
rs2142443741
|
|
|
NM_024675.4(PALB2):c.438_450del (p.Arg146fs)
|
rs2142443124
|
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
|
NM_024675.4(PALB2):c.442A>T (p.Lys148Ter)
|
|
|
|
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)
|
rs1555461790
|
|
|
NM_024675.4(PALB2):c.443_446del (p.Lys148fs)
|
|
|
|
NM_024675.4(PALB2):c.444_445del (p.Lys149fs)
|
rs757860709
|
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
|
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
|
|
|
|
NM_024675.4(PALB2):c.466_467del (p.Ile156fs)
|
rs876659405
|
|
|
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
|
|
|
|
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)
|
rs879254197
|
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
|
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
|
rs1597099149
|
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
|
NM_024675.4(PALB2):c.49-1123C>G
|
rs2142467185
|
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
|
NM_024675.4(PALB2):c.502dup (p.Ser168fs)
|
rs1555461777
|
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
|
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
rs515726122
|
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
|
NM_024675.4(PALB2):c.50T>A (p.Leu17Ter)
|
|
|
|
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)
|
rs1567224232
|
|
|
NM_024675.4(PALB2):c.512T>A (p.Leu171Ter)
|
rs876658979
|
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
|
NM_024675.4(PALB2):c.519del (p.Arg175fs)
|
|
|
|
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)
|
rs1597098996
|
|
|
NM_024675.4(PALB2):c.523del (p.Arg175fs)
|
|
|
|
NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs)
|
|
|
|
NM_024675.4(PALB2):c.527_531del (p.Leu176fs)
|
rs1597098971
|
|
|
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
|
|
|
|
NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
|
|
|
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)
|
rs730881903
|
|
|
NM_024675.4(PALB2):c.538G>T (p.Glu180Ter)
|
rs750782778
|
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
|
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
rs864622280
|
|
|
NM_024675.4(PALB2):c.544del (p.Ile182fs)
|
rs886039614
|
|
|
NM_024675.4(PALB2):c.547del (p.Ser183fs)
|
rs2142440747
|
|
|
NM_024675.4(PALB2):c.548del (p.Ser183fs)
|
rs1064795953
|
|
|
NM_024675.4(PALB2):c.552del (p.Ser184fs)
|
rs1060502738
|
|
|
NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
|
|
|
NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
|
|
|
|
NM_024675.4(PALB2):c.562del (p.Ala188fs)
|
|
|
|
NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs)
|
|
|
|
NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)
|
rs2142461122
|
|
|
NM_024675.4(PALB2):c.580_584del (p.Glu194fs)
|
|
|
|
NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer)
|
|
|
|
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)
|
rs2142461082
|
|
|
NM_024675.4(PALB2):c.593del (p.His198fs)
|
|
|
|
NM_024675.4(PALB2):c.595del (p.Leu199fs)
|
rs2142439618
|
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
|
NM_024675.4(PALB2):c.599dup (p.Leu200fs)
|
|
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
|
NM_024675.4(PALB2):c.609del (p.Lys203fs)
|
|
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
|
NM_024675.4(PALB2):c.625del (p.Ser209fs)
|
rs1597098739
|
|
|
NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer)
|
|
|
|
NM_024675.4(PALB2):c.635del (p.Pro212fs)
|
rs1555461697
|
|
|
NM_024675.4(PALB2):c.639del (p.Thr214fs)
|
rs1555461695
|
|
|
NM_024675.4(PALB2):c.640dup (p.Thr214fs)
|
|
|
|
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)
|
rs1555461693
|
|
|
NM_024675.4(PALB2):c.646del (p.Ile216fs)
|
rs1597098679
|
|
|
NM_024675.4(PALB2):c.652G>T (p.Glu218Ter)
|
rs2142438340
|
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
|
NM_024675.4(PALB2):c.658del (p.Ser220fs)
|
rs876659328
|
|
|
NM_024675.4(PALB2):c.661_662del (p.Val221fs)
|
|
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
|
NM_024675.4(PALB2):c.665T>A (p.Leu222Ter)
|
rs2142437926
|
|
|
NM_024675.4(PALB2):c.674dup (p.Thr226fs)
|
rs1967030083
|
|
|
NM_024675.4(PALB2):c.682del (p.Gln228fs)
|
rs1567222523
|
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
|
NM_024675.4(PALB2):c.691A>T (p.Lys231Ter)
|
rs2142437289
|
|
|
NM_024675.4(PALB2):c.693del (p.Gly232fs)
|
rs875989791
|
|
|
NM_024675.4(PALB2):c.693dup (p.Gly232fs)
|
rs875989791
|
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
|
NM_024675.4(PALB2):c.696dup (p.Val233fs)
|
rs1967028249
|
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
|
NM_024675.4(PALB2):c.707dup (p.Leu237fs)
|
rs876658192
|
|
|
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)
|
rs779278389
|
|
|
NM_024675.4(PALB2):c.715A>T (p.Arg239Ter)
|
|
|
|
NM_024675.4(PALB2):c.715del (p.Arg239fs)
|
rs1567222476
|
|
|
NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)
|
rs2142460813
|
|
|
NM_024675.4(PALB2):c.722_750del (p.Asn241fs)
|
|
|
|
NM_024675.4(PALB2):c.726_727insTTAGGTCTGTAGA (p.Thr243delinsLeuGlyLeuTer)
|
rs1451309159
|
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
|
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)
|
rs749731838
|
|
|
NM_024675.4(PALB2):c.734del (p.Ala245fs)
|
rs2142436112
|
|
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
rs1248579792
|
|
|
NM_024675.4(PALB2):c.756dup (p.Leu253fs)
|
rs1967023691
|
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
|
NM_024675.4(PALB2):c.758_759insG (p.Ser254fs)
|
rs2142435343
|
|
|
NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs)
|
|
|
|
NM_024675.4(PALB2):c.759_760del (p.Ser254fs)
|
|
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
|
NM_024675.4(PALB2):c.759dup (p.Ser254fs)
|
rs1967023129
|
|
|
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)
|
rs864622695
|
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
|
NM_024675.4(PALB2):c.761del (p.Leu253_Ser254insTer)
|
rs2142435242
|
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
|
NM_024675.4(PALB2):c.770del (p.Gly257fs)
|
rs1555461634
|
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
|
NM_024675.4(PALB2):c.778_779insCC (p.Gln260fs)
|
rs2142434725
|
|
|
NM_024675.4(PALB2):c.779dup (p.His261fs)
|
|
|
|
NM_024675.4(PALB2):c.782_783del (p.His261fs)
|
rs1967021173
|
|
|
NM_024675.4(PALB2):c.782dup (p.His261fs)
|
|
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
|
NM_024675.4(PALB2):c.787G>T (p.Glu263Ter)
|
rs2142434483
|
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
|
NM_024675.4(PALB2):c.816_825dup (p.His276fs)
|
rs2142433539
|
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
|
NM_024675.4(PALB2):c.821del (p.Thr274fs)
|
|
|
|
NM_024675.4(PALB2):c.825del (p.His276fs)
|
rs2142433522
|
|
|
NM_024675.4(PALB2):c.828del (p.His276fs)
|
|
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
|
NM_024675.4(PALB2):c.832del (p.Asp277_Leu278insTer)
|
rs1597098138
|
|
|
NM_024675.4(PALB2):c.833del (p.Leu278fs)
|
|
|
|
NM_024675.4(PALB2):c.833dup (p.Asn280fs)
|
|
|
|
NM_024675.4(PALB2):c.838_839del (p.Asn280fs)
|
|
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
|
NM_024675.4(PALB2):c.839dup (p.Asn280fs)
|
rs1555461597
|
|
|
NM_024675.4(PALB2):c.841del (p.Ile281fs)
|
rs1555461595
|
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
|
NM_024675.4(PALB2):c.849_850insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAACATTAGATTT (p.Thr284fs)
|
|
|
|
NM_024675.4(PALB2):c.849del (p.Phe283fs)
|
rs2142432863
|
|
|
NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter)
|
rs761533286
|
|
|
NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter)
|
rs761533286
|
|
|
NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer)
|
|
|
|
NM_024675.4(PALB2):c.850_866del (p.Thr284fs)
|
|
|
|
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
|
|
|
|
NM_024675.4(PALB2):c.854del (p.Ser285fs)
|
|
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
rs1555461574
|
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
|
NM_024675.4(PALB2):c.869del (p.Glu290fs)
|
|
|
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
|
|
|
NM_024675.4(PALB2):c.879del (p.Lys295_Met296insTer)
|
rs2142432244
|
|
|
NM_024675.4(PALB2):c.87dup (p.Lys30fs)
|
|
|
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
rs753676934
|
|
|
NM_024675.4(PALB2):c.885_886del (p.Lys295fs)
|
|
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
|
NM_024675.4(PALB2):c.887del (p.Met296fs)
|
rs2142432029
|
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
|
NM_024675.4(PALB2):c.896_897del (p.Ser299fs)
|
rs1967011347
|
|
|
NM_024675.4(PALB2):c.898del (p.Thr300fs)
|
|
|
|
NM_024675.4(PALB2):c.899del (p.Thr300fs)
|
rs1555461558
|
|
|
NM_024675.4(PALB2):c.901_902del (p.Thr300_Asp301insTer)
|
rs2142431560
|
|
|
NM_024675.4(PALB2):c.901_907del (p.Asp301fs)
|
rs1555461551
|
|
|
NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer)
|
|
|
|
NM_024675.4(PALB2):c.910del (p.Leu304_Val305insTer)
|
|
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
|
NM_024675.4(PALB2):c.934dup (p.Ser312fs)
|
|
|
|
NM_024675.4(PALB2):c.93_94dup (p.Leu32fs)
|
|
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
|
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
|
|
|
|
NM_024675.4(PALB2):c.945_954del (p.Pro316fs)
|
|
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
|
NM_024675.4(PALB2):c.952del (p.Ser318fs)
|
|
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
|
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)
|
rs587776409
|
|
|
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
|
|
|
|
NM_024675.4(PALB2):c.962del (p.Asn320_Leu321insTer)
|
|
|
|
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
|
|
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
|
NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs)
|
|
|
|
NM_024675.4(PALB2):c.985_986del (p.Leu329fs)
|
rs1555461514
|
|
|
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
|
rs2142429230
|
|
|
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
|
|
|
|
NM_024675.4(PALB2):c.995_996del (p.Leu332fs)
|
rs1567221851
|
|
|
NM_032043.2(BRIP1):c.1474-?_1628+?del
|
|
|
|
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)
|
rs1555618375
|
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
|
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter)
|
rs786201808
|
|
|
NM_032043.3(BRIP1):c.1007_1031del (p.Asp336fs)
|
|
|
|
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
|
|
|
|
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
|
NM_032043.3(BRIP1):c.1048del (p.Cys350fs)
|
|
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs)
|
|
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
|
NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
|
|
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
|
NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
|
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
|
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
|
NM_032043.3(BRIP1):c.1140dup (p.Met381fs)
|
|
|
|
NM_032043.3(BRIP1):c.1141del (p.Met381fs)
|
|
|
|
NM_032043.3(BRIP1):c.1142dup (p.Met381fs)
|
|
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
|
NM_032043.3(BRIP1):c.1158dup (p.Glu387fs)
|
|
|
|
NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
|
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
|
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
|
NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer)
|
|
|
|
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
|
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
|
NM_032043.3(BRIP1):c.1251dup (p.Ala418fs)
|
|
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
|
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
|
|
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
|
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)
|
rs2145302423
|
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
|
NM_032043.3(BRIP1):c.1312del (p.Leu438fs)
|
rs1064795413
|
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
|
NM_032043.3(BRIP1):c.1328_1334del (p.Cys443fs)
|
rs2145299550
|
|
|
NM_032043.3(BRIP1):c.132_139delinsTTTCCACTT (p.Leu44fs)
|
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1404dup (p.Ser469fs)
|
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
|
NM_032043.3(BRIP1):c.1426del (p.Thr476fs)
|
|
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
|
NM_032043.3(BRIP1):c.1443dup (p.Ile482fs)
|
|
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1471del (p.Gln491fs)
|
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
|
NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1529_1530del (p.Lys510fs)
|
|
|
|
NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
|
NM_032043.3(BRIP1):c.1551_1552delinsAACAGGTAC (p.Val518fs)
|
|
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1582_1584delinsG (p.Lys528fs)
|
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
|
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
|
|
|
|
NM_032043.3(BRIP1):c.158del (p.Ser53fs)
|
|
|
|
NM_032043.3(BRIP1):c.1592_1598del (p.Phe531fs)
|
|
|
|
NM_032043.3(BRIP1):c.1594del (p.Met532fs)
|
|
|
|
NM_032043.3(BRIP1):c.1598_1599dup (p.Leu534fs)
|
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.1602_1606delinsC (p.Asp535fs)
|
|
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
|
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)
|
rs1603334758
|
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
|
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
|
|
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
|
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
|
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
|
NM_032043.3(BRIP1):c.1702_1703delinsT (p.Asn568fs)
|
|
|
|
NM_032043.3(BRIP1):c.1703del (p.Asn568fs)
|
|
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
|
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)
|
rs587778131
|
|
|
NM_032043.3(BRIP1):c.1734del (p.Lys578fs)
|
|
|
|
NM_032043.3(BRIP1):c.1734dup (p.Arg579fs)
|
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.173dup (p.Cys58fs)
|
|
|
|
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1758del (p.His587fs)
|
|
|
|
NM_032043.3(BRIP1):c.1759del (p.His587fs)
|
|
|
|
NM_032043.3(BRIP1):c.176_180delinsTTGCAGTTACAAAACAAAGCATGGCAACAATCTC (p.Ser59fs)
|
|
|
|
NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs)
|
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
|
NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1803del (p.Asp602fs)
|
|
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
|
NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
|
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
|
NM_032043.3(BRIP1):c.1892_1893del (p.Phe631fs)
|
|
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
|
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
|
|
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
|
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
|
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
|
|
|
|
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
|
NM_032043.3(BRIP1):c.1961delinsAATGGTTTGGTACCATTGGGTCAGAATTGGGTCCGA (p.Gly654fs)
|
|
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
|
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs)
|
rs1555601094
|
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
|
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs)
|
rs587778134
|
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
|
NM_032043.3(BRIP1):c.2038_2042del (p.Leu680fs)
|
rs1400202829
|
|
|
NM_032043.3(BRIP1):c.2045_2046del (p.Ser682fs)
|
|
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2075del (p.Leu692fs)
|
|
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
|
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
|
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2097+2T>A
|
rs2077532634
|
|
|
NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
|
NM_032043.3(BRIP1):c.2109dup (p.Leu704fs)
|
|
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
|
NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter)
|
rs1567781516
|
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
|
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
|
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
|
|
|
|
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
|
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
|
NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
|
NM_032043.3(BRIP1):c.2234dup (p.Ile746fs)
|
|
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
|
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
|
NM_032043.3(BRIP1):c.2252_2255delAGAA (p.Lys752fs)
|
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
|
NM_032043.3(BRIP1):c.227dup (p.Ser77fs)
|
|
|
|
NM_032043.3(BRIP1):c.2281del (p.Cys761fs)
|
rs1555590521
|
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
|
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
|
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
|
|
|
|
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
|
|
|
|
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
|
|
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
|
NM_032043.3(BRIP1):c.2350del (p.Ile784fs)
|
|
|
|
NM_032043.3(BRIP1):c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA (p.Val789fs)
|
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
|
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
|
NM_032043.3(BRIP1):c.2431_2432delinsTTC (p.Leu811fs)
|
|
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
|
NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter)
|
rs1064795352
|
|
|
NM_032043.3(BRIP1):c.2448del (p.Trp816fs)
|
|
|
|
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter)
|
rs2061854079
|
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
|
NM_032043.3(BRIP1):c.2466delinsACA (p.Tyr822Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
|
|
|
|
NM_032043.3(BRIP1):c.2474_2485delinsG (p.Leu825fs)
|
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
|
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
|
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
|
NM_032043.3(BRIP1):c.251del (p.Leu84fs)
|
|
|
|
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
|
|
|
|
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs)
|
rs1603280507
|
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
|
NM_032043.3(BRIP1):c.2533dup (p.Val845fs)
|
|
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
|
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
|
|
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
|
NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
|
NM_032043.3(BRIP1):c.2649del (p.Glu883fs)
|
|
|
|
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.2714del (p.Asn905fs)
|
rs2144114210
|
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
|
NM_032043.3(BRIP1):c.2727dup (p.Glu910Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
|
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer)
|
rs2144113001
|
|
|
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs)
|
rs2144112699
|
|
|
NM_032043.3(BRIP1):c.2754dup (p.Ser919fs)
|
|
|
|
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
|
|
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
|
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter)
|
rs1603366351
|
|
|
NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
|
NM_032043.3(BRIP1):c.2798dup (p.Asn933fs)
|
|
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
|
NM_032043.3(BRIP1):c.2835_2838del (p.Glu945fs)
|
|
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
|
NM_032043.3(BRIP1):c.2846del (p.Pro949fs)
|
|
|
|
NM_032043.3(BRIP1):c.2864del (p.Asn955fs)
|
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
|
NM_032043.3(BRIP1):c.2893del (p.Arg965fs)
|
|
|
|
NM_032043.3(BRIP1):c.2899G>T (p.Glu967Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
|
NM_032043.3(BRIP1):c.2902delA (p.Asn969fs)
|
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
|
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
|
|
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2950_3019del (p.Val984fs)
|
|
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
|
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
|
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
|
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)
|
rs1555617829
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
|
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
|
|
|
|
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
|
|
|
|
NM_032043.3(BRIP1):c.3349del (p.Ser1117fs)
|
|
|
|
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)
|
rs786203890
|
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
|
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
|
|
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
|
NM_032043.3(BRIP1):c.37dup (p.Val13fs)
|
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
|
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs)
|
rs1555616206
|
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
|
NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer)
|
|
|
|
NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)
|
|
|
|
NM_032043.3(BRIP1):c.428_447del (p.Gln143fs)
|
|
|
|
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)
|
rs786203429
|
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
|
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)
|
rs1603362622
|
|
|
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)
|
rs1603362622
|
|
|
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer)
|
rs2078779429
|
|
|
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
|
|
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
|
NM_032043.3(BRIP1):c.444del (p.Asp149fs)
|
|
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
|
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
|
|
|
|
NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
|
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
|
|
|
|
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
|
|
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
|
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
|
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.51_55del (p.Phe17fs)
|
|
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
|
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
|
|
|
|
NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)
|
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
|
NM_032043.3(BRIP1):c.558del (p.Val187fs)
|
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
|
NM_032043.3(BRIP1):c.561del (p.Asp188fs)
|
|
|
|
NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)
|
|
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)
|
|
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
|
NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)
|
|
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
|
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
|
|
|
|
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
|
|
|
|
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
|
|
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.674dup (p.Asn225fs)
|
|
|
|
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
|
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
|
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
|
|
|
|
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
|
|
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
|
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
|
|
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
|
NM_032043.3(BRIP1):c.775dup (p.Ile259fs)
|
|
|
|
NM_032043.3(BRIP1):c.777del (p.Thr260fs)
|
|
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
|
NM_032043.3(BRIP1):c.788del (p.Leu263fs)
|
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
|
NM_032043.3(BRIP1):c.807_826del (p.Gly270fs)
|
|
|
|
NM_032043.3(BRIP1):c.811dup (p.Val271fs)
|
|
|
|
NM_032043.3(BRIP1):c.815dup (p.Met273fs)
|
|
|
|
NM_032043.3(BRIP1):c.817dup (p.Met273fs)
|
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
|
NM_032043.3(BRIP1):c.84dup (p.Met29fs)
|
|
|
|
NM_032043.3(BRIP1):c.850dup (p.Val284fs)
|
|
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
|
NM_032043.3(BRIP1):c.871_872del (p.Asn291fs)
|
|
|
|
NM_032043.3(BRIP1):c.875del (p.Phe292fs)
|
rs2078107930
|
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
|
NM_032043.3(BRIP1):c.942del (p.His314fs)
|
rs2077993152
|
|
|
NM_032043.3(BRIP1):c.948del (p.His317fs)
|
|
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
|
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
|
|
|
|
NM_032043.3(BRIP1):c.976C>T (p.Gln326Ter)
|
|
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
|
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
|
|
|
|
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser)
|
rs121913535
|
|
|
NM_033360.4(KRAS):c.38G>C (p.Gly13Ala)
|
rs112445441
|
|
|
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)
|
rs587781490
|
|
|
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)
|
rs2143961266
|
|
|
NM_130439.3(MXI1):c.552+2T>C
|
rs387906417
|
|
|
NM_130439.3(MXI1):c.623del (p.Lys208fs)
|
|
|
|
NM_130439.3(MXI1):c.656A>C (p.Glu219Ala)
|
rs137852603
|
|
|
NM_138711.6(PPARG):c.466del (p.Ser156fs)
|
rs587776687
|
|
|
NM_138711.6(PPARG):c.851A>C (p.Gln284Pro)
|
rs121909242
|
|
|
NM_138711.6(PPARG):c.949A>T (p.Lys317Ter)
|
rs121909243
|
|
|
NM_138761.4(BAX):c.121del (p.Glu41fs)
|
rs398122840
|
|
|
NM_138761.4(BAX):c.121dup (p.Glu41fs)
|
rs398122840
|
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
|
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
|
|
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
|
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)
|
rs137852977
|
|
|
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)
|
rs137852979
|
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
|
NM_177438.3(DICER1):c.2392dup (p.Thr798fs)
|
rs886037690
|
|
|
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)
|
rs137852978
|
|
|
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)
|
rs1060503605
|
|
|
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)
|
rs1131691197
|
|
|
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)
|
rs137852976
|
|
|
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)
|
rs1595314576
|
|
|
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala)
|
rs121908500
|
|
|
NM_198219.3(ING1):c.575C>A (p.Ala192Asp)
|
rs121909252
|
|
|
NM_198219.3(ING1):c.644G>C (p.Cys215Ser)
|
rs121909250
|
|
|
NM_198219.3(ING1):c.647A>G (p.Asn216Ser)
|
rs121909251
|
|
|
NM_198253.3(TERT):c.-146C>T
|
|
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
|
NM_198253.3(TERT):c.2004G>C (p.Glu668Asp)
|
rs1554040964
|
|
|
NM_198253.3(TERT):c.337dup (p.Glu113fs)
|
rs1554043088
|
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
|
PDGRL, 2-BP DEL
|
|
|
|
Single allele
|
|
|
|
m.3308T>C
|
rs28358582
|
|
|
nsv1067861
|
|
|
|
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)
|
|
|
|
t(2;3)(p12;p14.3)
|
|
|
|
t(6;9)(q23.3;p22.3)
|
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|