NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
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_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter)
|
rs200156887
|
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_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
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.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_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)
|
rs138775799
|
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_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
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.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
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.468dup (p.Lys157Ter)
|
rs1555280955
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs)
|
rs1555288494
|
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.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
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_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.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
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.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.49del (p.Ala17fs)
|
rs587781704
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_024675.4(PALB2):c.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.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_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
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.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
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.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.4852C>T (p.Arg1618Ter)
|
rs762083530
|
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.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
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.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.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)
|
rs781215442
|
0.00001
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
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.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.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.2312T>G (p.Leu771Ter)
|
rs587782095
|
0.00001
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)
|
rs1555282969
|
0.00001
|
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)
|
rs80358547
|
0.00001
|
NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter)
|
rs748508287
|
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.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.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)
|
rs80359452
|
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.4691dup (p.Thr1566fs)
|
rs786204209
|
0.00001
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
rs80358711
|
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.5286T>G (p.Tyr1762Ter)
|
rs80358754
|
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.5992C>T (p.Gln1998Ter)
|
rs397507819
|
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.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.8350C>T (p.Arg2784Trp)
|
rs80359075
|
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.880G>T (p.Glu294Ter)
|
rs397508009
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9118-2A>G
|
rs81002862
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter)
|
rs397508047
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)
|
rs104894095
|
0.00001
|
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)
|
rs104894097
|
0.00001
|
NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)
|
rs1396658541
|
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.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
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.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
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.1652C>G (p.Ser551Ter)
|
rs587781707
|
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.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
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.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
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.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
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.1390A>T (p.Lys464Ter)
|
rs863224502
|
0.00001
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)
|
rs745921592
|
0.00001
|
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter)
|
rs376561094
|
0.00001
|
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)
|
rs1064796630
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)
|
rs587781338
|
0.00001
|
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)
|
rs750219200
|
0.00001
|
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)
|
rs764466442
|
0.00001
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
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.1054G>T (p.Glu352Ter)
|
rs80357472
|
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.1793T>G (p.Leu598Ter)
|
rs80357118
|
0.00001
|
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)
|
rs80357064
|
0.00001
|
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)
|
rs80357355
|
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.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.302-2del
|
rs273899695
|
0.00001
|
NM_007294.4(BRCA1):c.3286del (p.Gln1096fs)
|
rs80357533
|
0.00001
|
NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter)
|
rs886040126
|
0.00001
|
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)
|
rs80357134
|
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.3675C>A (p.Cys1225Ter)
|
rs879254023
|
0.00001
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
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.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
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.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
NM_007294.4(BRCA1):c.5278-1G>C
|
rs80358099
|
0.00001
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
|
rs80357629
|
0.00001
|
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)
|
rs80357707
|
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.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
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.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
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.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
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.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)
|
rs1060502588
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_000038.6(APC):c.1032T>A (p.Cys344Ter)
|
rs1762819450
|
|
NM_000038.6(APC):c.1072C>T (p.Gln358Ter)
|
rs863224455
|
|
NM_000038.6(APC):c.1239dup (p.Arg414fs)
|
rs879254088
|
|
NM_000038.6(APC):c.1312+5G>A
|
rs886039507
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1394del (p.Ala465fs)
|
rs1763190657
|
|
NM_000038.6(APC):c.145A>T (p.Lys49Ter)
|
rs1581160030
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter)
|
rs387906230
|
|
NM_000038.6(APC):c.154C>T (p.Gln52Ter)
|
rs786202584
|
|
NM_000038.6(APC):c.1620_1621insGA (p.Gln541fs)
|
rs1131691555
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1972_1975del (p.Glu658fs)
|
rs863225322
|
|
NM_000038.6(APC):c.203T>A (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.2107dup (p.Ala703fs)
|
rs587783030
|
|
NM_000038.6(APC):c.221-2A>G
|
rs786201291
|
|
NM_000038.6(APC):c.2373_2374del (p.His791fs)
|
|
|
NM_000038.6(APC):c.2388T>G (p.Tyr796Ter)
|
rs1554084124
|
|
NM_000038.6(APC):c.2390dup (p.Gly797_Asp798insTer)
|
rs1561576755
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.2657del (p.Gln886fs)
|
rs1765237683
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2692_2693insT (p.His898fs)
|
rs1561579040
|
|
NM_000038.6(APC):c.2711_2712del (p.Arg904fs)
|
rs1554084403
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2840_2841del (p.Cys947fs)
|
rs1554084531
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.3203C>G (p.Ser1068Ter)
|
rs1554084848
|
|
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter)
|
rs876659539
|
|
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter)
|
rs587783029
|
|
NM_000038.6(APC):c.3298dup (p.Ser1100fs)
|
rs2149888975
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3429T>A (p.Tyr1143Ter)
|
|
|
NM_000038.6(APC):c.3577C>T (p.Gln1193Ter)
|
rs1554085128
|
|
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter)
|
rs863225344
|
|
NM_000038.6(APC):c.3730C>T (p.Gln1244Ter)
|
rs79122263
|
|
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)
|
rs863225348
|
|
NM_000038.6(APC):c.3880C>T (p.Gln1294Ter)
|
rs1554085373
|
|
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter)
|
rs121913462
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.423-1G>A
|
rs397514031
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4367_4368del (p.Lys1456fs)
|
rs1765664365
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4634C>A (p.Ser1545Ter)
|
rs863225356
|
|
NM_000038.6(APC):c.4638_4642del (p.Asn1546fs)
|
rs1554086030
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs)
|
rs863225359
|
|
NM_000038.6(APC):c.475dup (p.Tyr159fs)
|
rs863225361
|
|
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs)
|
rs1554086196
|
|
NM_000038.6(APC):c.479del (p.Ala160fs)
|
|
|
NM_000038.6(APC):c.4938del (p.Thr1647fs)
|
|
|
NM_000038.6(APC):c.4970dup (p.Ser1658fs)
|
rs1554086340
|
|
NM_000038.6(APC):c.509_512del (p.Asp170fs)
|
rs387906231
|
|
NM_000038.6(APC):c.546del (p.Asp183fs)
|
|
|
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)
|
rs730881273
|
|
NM_000038.6(APC):c.574G>T (p.Glu192Ter)
|
|
|
NM_000038.6(APC):c.5813_5814del (p.Lys1938fs)
|
rs1766053215
|
|
NM_000038.6(APC):c.6676C>T (p.Arg2226Ter)
|
rs1064794626
|
|
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)
|
rs768922431
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.7057dup (p.Thr2353fs)
|
|
|
NM_000038.6(APC):c.7226del (p.Gly2409fs)
|
rs1766419869
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
NM_000038.6(APC):c.7709C>G (p.Ser2570Ter)
|
rs1561617778
|
|
NM_000038.6(APC):c.7772_7773del (p.His2591fs)
|
rs2149993527
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000038.6(APC):c.937_938del (p.Glu313fs)
|
rs387906239
|
|
NM_000038.6(APC):c.961dup (p.Met321fs)
|
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
NM_000051.4(ATM):c.1105_1121del (p.Ser369fs)
|
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
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.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.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1314dup (p.Leu439fs)
|
rs1555070739
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.135dup (p.His46fs)
|
rs1591447147
|
|
NM_000051.4(ATM):c.1483dup (p.Ile495fs)
|
rs2135324290
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
NM_000051.4(ATM):c.1668_1669del (p.Lys556fs)
|
|
|
NM_000051.4(ATM):c.1718dup (p.Glu574fs)
|
|
|
NM_000051.4(ATM):c.172del (p.Asp58fs)
|
rs1555054243
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
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.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.192dup (p.Gln65fs)
|
rs1565346604
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)
|
rs528165789
|
|
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.2000_2003dup (p.Cys669fs)
|
rs1555073282
|
|
NM_000051.4(ATM):c.2019del (p.Lys673fs)
|
rs1591534511
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
|
|
|
NM_000051.4(ATM):c.2156C>A (p.Ser719Ter)
|
rs2080475075
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
NM_000051.4(ATM):c.2255dup (p.Met753fs)
|
rs1565396965
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)
|
rs1555075721
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2462del (p.Ser821fs)
|
rs2080701610
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)
|
rs1057516944
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
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.2748_2749del (p.Ser917fs)
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)
|
rs2081575204
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3261del (p.Met1087fs)
|
rs1565429054
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3431del (p.Leu1144fs)
|
rs1555091158
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
|
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
NM_000051.4(ATM):c.3512_3513del (p.Gln1171fs)
|
|
|
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
|
rs2079235532
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter)
|
rs1591641318
|
|
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter)
|
rs2135689111
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
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.3760del (p.Val1254fs)
|
rs786203507
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.3778del (p.Leu1259_Val1260insTer)
|
rs2082375273
|
|
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter)
|
rs1591645509
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3996del (p.Ile1332fs)
|
rs1555095807
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)
|
rs1565452621
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)
|
rs886039488
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
|
rs2082638431
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4175delinsTG (p.Tyr1392fs)
|
rs2135752319
|
|
NM_000051.4(ATM):c.423T>A (p.Cys141Ter)
|
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
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.441dup (p.Asp148fs)
|
rs1427164968
|
|
NM_000051.4(ATM):c.442dup (p.Asp148fs)
|
rs1555059380
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4632C>G (p.Tyr1544Ter)
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
NM_000051.4(ATM):c.471T>A (p.Cys157Ter)
|
rs1555059459
|
|
NM_000051.4(ATM):c.4725dup (p.Ile1576fs)
|
rs1565463203
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4782del (p.Asn1595fs)
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4889_4901dup (p.Ser1635fs)
|
rs1565466585
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
NM_000051.4(ATM):c.4916del (p.Pro1639fs)
|
rs2083174891
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)
|
rs1555104693
|
|
NM_000051.4(ATM):c.5162dup (p.Leu1722fs)
|
rs2083337165
|
|
NM_000051.4(ATM):c.5163_5164del (p.Leu1722fs)
|
rs2083336878
|
|
NM_000051.4(ATM):c.5210del (p.Cys1736_Leu1737insTer)
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
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.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)
|
rs1555107356
|
|
NM_000051.4(ATM):c.5599del (p.Gln1867fs)
|
|
|
NM_000051.4(ATM):c.5609dup (p.Thr1871fs)
|
rs2083601046
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
|
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
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.5745del (p.Asp1914_Tyr1915insTer)
|
rs1555109147
|
|
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs)
|
rs1555109177
|
|
NM_000051.4(ATM):c.5762_5763del (p.Arg1921fs)
|
rs1565486341
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5853del (p.Phe1952fs)
|
rs1555110418
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5931del (p.Phe1977fs)
|
rs1565493368
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter)
|
rs1565493693
|
|
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.6007_6029dup
|
|
|
NM_000051.4(ATM):c.6007delG (p.Asp2003fs)
|
rs1555113505
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6044_6046delinsTTATACTTCTCTTAGAAATCTACAGAAGT (p.Pro2015fs)
|
rs1565498886
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.606_618delinsAG (p.Asp203fs)
|
rs2079704928
|
|
NM_000051.4(ATM):c.6080del (p.Leu2027fs)
|
rs1060501548
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)
|
rs2136132184
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6237_6238del (p.Tyr2080fs)
|
rs1555114623
|
|
NM_000051.4(ATM):c.6242del (p.Tyr2080_Leu2081insTer)
|
rs2084779727
|
|
NM_000051.4(ATM):c.6258T>G (p.Tyr2086Ter)
|
rs1565502999
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs)
|
rs2085083193
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
NM_000051.4(ATM):c.650_651dup (p.Gln218fs)
|
rs2079709372
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
NM_000051.4(ATM):c.6743dup (p.Asp2249fs)
|
rs2085573796
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs)
|
rs2135237416
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6867_6868dup (p.Glu2290fs)
|
rs2085653871
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.695del (p.Ile232fs)
|
|
|
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.7022delinsTT (p.Cys2341fs)
|
|
|
NM_000051.4(ATM):c.7035_7036del (p.Leu2345fs)
|
|
|
NM_000051.4(ATM):c.7047C>A (p.Cys2349Ter)
|
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.709dup (p.Thr237fs)
|
rs2079758064
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.7216_7217insTA (p.Lys2406fs)
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7282_7283insAA (p.Arg2428fs)
|
rs2136422828
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
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.7729del (p.Glu2576_Val2577insTer)
|
rs2086303574
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8000dup (p.Met2667fs)
|
|
|
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.8080G>T (p.Gly2694Ter)
|
rs1555127157
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
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.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)
|
rs751574257
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs)
|
rs1060501630
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
NM_000051.4(ATM):c.8368del (p.Arg2790fs)
|
rs2136948975
|
|
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.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter)
|
rs2136952289
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.84_85del (p.Lys29fs)
|
rs2078817543
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)
|
rs56025670
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer)
|
rs1565372075
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8672del
|
rs779170307
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
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.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.935dup (p.Leu312fs)
|
rs2079879604
|
|
NM_000051.4(ATM):c.944del (p.Leu315fs)
|
rs1565375035
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.369_371delinsTA (p.Lys123fs)
|
rs1555280855
|
|
NM_000059.3(BRCA2):c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254fs)
|
rs1555283391
|
|
NM_000059.3(BRCA2):c.4228_4229insA (p.Thr1410Asnfs)
|
rs879255450
|
|
NM_000059.3(BRCA2):c.8312del (p.Pro2771fs)
|
rs879255469
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1010dup (p.Asn337fs)
|
rs2072402499
|
|
NM_000059.4(BRCA2):c.101_102insCCAATAAGTCTTA (p.Glu34delinsAspGlnTer)
|
|
|
NM_000059.4(BRCA2):c.1023_1024del (p.Cys341_Glu342delinsTer)
|
rs1593891760
|
|
NM_000059.4(BRCA2):c.1039C>T (p.Gln347Ter)
|
rs794726967
|
|
NM_000059.4(BRCA2):c.1041del (p.Gln347_Val348insTer)
|
rs1566222651
|
|
NM_000059.4(BRCA2):c.1051A>T (p.Lys351Ter)
|
rs1003779807
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1066del (p.Ser356fs)
|
rs2072403721
|
|
NM_000059.4(BRCA2):c.106_109del (p.Ser36fs)
|
rs1555280340
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
NM_000059.4(BRCA2):c.1115del (p.Asn372fs)
|
rs2072404504
|
|
NM_000059.4(BRCA2):c.1128del (p.Phe376fs)
|
rs80359263
|
|
NM_000059.4(BRCA2):c.1138del (p.Ser380fs)
|
rs80359264
|
|
NM_000059.4(BRCA2):c.1147del (p.Ile383fs)
|
rs80359265
|
|
NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter)
|
rs80358411
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.1233del (p.Leu413fs)
|
rs2072407210
|
|
NM_000059.4(BRCA2):c.1237del (p.Leu413fs)
|
rs886040351
|
|
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.1273del (p.Glu425fs)
|
rs2137469444
|
|
NM_000059.4(BRCA2):c.1278del (p.Asp427fs)
|
rs80359274
|
|
NM_000059.4(BRCA2):c.1278dup (p.Asp427fs)
|
rs80359274
|
|
NM_000059.4(BRCA2):c.1286T>G (p.Leu429Ter)
|
rs886040356
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter)
|
rs80358421
|
|
NM_000059.4(BRCA2):c.1329del (p.Asn444fs)
|
rs869320781
|
|
NM_000059.4(BRCA2):c.1337T>A (p.Leu446Ter)
|
rs1555281845
|
|
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.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter)
|
rs1064794018
|
|
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)
|
rs1566223700
|
|
NM_000059.4(BRCA2):c.149_156del (p.Glu49_Ser50insTer)
|
|
|
NM_000059.4(BRCA2):c.1511_1512del (p.Ser504fs)
|
rs80359286
|
|
NM_000059.4(BRCA2):c.1514del (p.Ile505fs)
|
rs397507592
|
|
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1561dup (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1587delTinsCA
|
rs886040376
|
|
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)
|
rs879255325
|
|
NM_000059.4(BRCA2):c.1597del (p.Thr533fs)
|
rs80359292
|
|
NM_000059.4(BRCA2):c.1628_1655delinsTTATGTCCAAATTTAATTGATAATGTCCAAATTTAATTGATAATGGAAGTA (p.His543_Ser552delinsLeuMetSerLysPheAsnTer)
|
rs2072417939
|
|
NM_000059.4(BRCA2):c.1631_1632del (p.Thr544fs)
|
rs80359295
|
|
NM_000059.4(BRCA2):c.1668_1671delinsATT (p.Asn556fs)
|
rs483353110
|
|
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.171C>A (p.Tyr57Ter)
|
rs201523522
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)
|
rs1131692274
|
|
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)
|
rs397507604
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1758_1759del (p.Lys586fs)
|
rs1566224242
|
|
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)
|
rs80359303
|
|
NM_000059.4(BRCA2):c.1766_1769del (p.Lys589fs)
|
rs2072421561
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1792del (p.Thr598fs)
|
rs886040389
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)
|
rs80358464
|
|
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.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1854delinsAA (p.Gln619fs)
|
rs276174815
|
|
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)
|
rs80358476
|
|
NM_000059.4(BRCA2):c.1864_1865delinsTA (p.Ala622Ter)
|
rs2072424360
|
|
NM_000059.4(BRCA2):c.1887_1893del (p.Thr630fs)
|
rs1555282146
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.1943del (p.Ser648fs)
|
rs876658660
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
NM_000059.4(BRCA2):c.2025_2026del (p.Cys676fs)
|
rs886040402
|
|
NM_000059.4(BRCA2):c.2036del (p.Asn679fs)
|
rs80359318
|
|
NM_000059.4(BRCA2):c.2091del (p.Lys697fs)
|
rs431825292
|
|
NM_000059.4(BRCA2):c.2091dup (p.Leu698fs)
|
rs431825292
|
|
NM_000059.4(BRCA2):c.2094del (p.Gln699fs)
|
rs80359323
|
|
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.2099T>A (p.Leu700Ter)
|
rs1555282449
|
|
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
|
rs80359324
|
|
NM_000059.4(BRCA2):c.2105_2106del (p.Ile702fs)
|
rs1555282454
|
|
NM_000059.4(BRCA2):c.2111del (p.Pro704fs)
|
rs886040404
|
|
NM_000059.4(BRCA2):c.2122del (p.Ser708fs)
|
rs1566226165
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2175del (p.Val726fs)
|
rs276174819
|
|
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)
|
rs80359325
|
|
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)
|
rs398122742
|
|
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.2235del (p.Val746fs)
|
rs1060502484
|
|
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)
|
rs886040416
|
|
NM_000059.4(BRCA2):c.2269A>T (p.Lys757Ter)
|
rs886040419
|
|
NM_000059.4(BRCA2):c.2279T>G (p.Leu760Ter)
|
rs757410810
|
|
NM_000059.4(BRCA2):c.2287del (p.His763fs)
|
rs80359327
|
|
NM_000059.4(BRCA2):c.22_23del (p.Arg8fs)
|
rs397507623
|
|
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.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)
|
rs397507285
|
|
NM_000059.4(BRCA2):c.2435del (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2442del (p.Met815fs)
|
rs397507627
|
|
NM_000059.4(BRCA2):c.2454_2457del (p.Asn818fs)
|
rs1555282680
|
|
NM_000059.4(BRCA2):c.2466del (p.Cys822fs)
|
|
|
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)
|
rs886040427
|
|
NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)
|
rs886040428
|
|
NM_000059.4(BRCA2):c.2490_2491insT (p.Val831fs)
|
rs886040430
|
|
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.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)
|
rs587782361
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)
|
rs876658648
|
|
NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter)
|
rs777421358
|
|
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)
|
rs80359340
|
|
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs)
|
rs2072462600
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
NM_000059.4(BRCA2):c.271_272del (p.Tyr91fs)
|
rs886040441
|
|
NM_000059.4(BRCA2):c.2722G>T (p.Glu908Ter)
|
rs2137489223
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)
|
rs80358529
|
|
NM_000059.4(BRCA2):c.2755G>T (p.Glu919Ter)
|
rs431825298
|
|
NM_000059.4(BRCA2):c.2786T>G (p.Leu929Ter)
|
rs2227943
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
NM_000059.4(BRCA2):c.2808dup (p.Gln937fs)
|
|
|
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.2834_2835del (p.Lys945fs)
|
rs80359356
|
|
NM_000059.4(BRCA2):c.2836_2837del (p.Asp946fs)
|
rs80359357
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs)
|
rs397507644
|
|
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)
|
rs886040449
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
NM_000059.4(BRCA2):c.2886dup (p.Ile963fs)
|
rs2072467270
|
|
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.2905C>T (p.Gln969Ter)
|
rs886038080
|
|
NM_000059.4(BRCA2):c.2944dup (p.Ile982fs)
|
rs2072468468
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.2960dup (p.Asn987fs)
|
rs886040455
|
|
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)
|
rs886040456
|
|
NM_000059.4(BRCA2):c.2976del (p.Lys992fs)
|
rs1060502391
|
|
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.2990T>G (p.Leu997Ter)
|
rs397507649
|
|
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)
|
rs397507300
|
|
NM_000059.4(BRCA2):c.3051del (p.Lys1018fs)
|
rs80359367
|
|
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer)
|
rs80359369
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
NM_000059.4(BRCA2):c.308dup (p.Leu103fs)
|
rs1057517572
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3110_3111del (p.Gln1037fs)
|
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)
|
rs80359371
|
|
NM_000059.4(BRCA2):c.3165_3167delinsCC (p.Lys1057fs)
|
rs1555283072
|
|
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.3174dup (p.Leu1059fs)
|
rs1555283079
|
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
rs876657678
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
NM_000059.4(BRCA2):c.3244A>T (p.Lys1082Ter)
|
rs886040465
|
|
NM_000059.4(BRCA2):c.3251_3254del (p.Ser1084fs)
|
rs2072475980
|
|
NM_000059.4(BRCA2):c.3270del (p.Met1090fs)
|
rs1555283134
|
|
NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter)
|
rs80358578
|
|
NM_000059.4(BRCA2):c.3323del (p.Lys1108fs)
|
rs869320782
|
|
NM_000059.4(BRCA2):c.3337G>T (p.Glu1113Ter)
|
|
|
NM_000059.4(BRCA2):c.3343del (p.Ser1115fs)
|
rs1555283184
|
|
NM_000059.4(BRCA2):c.3353_3355del (p.Leu1118_Glu1119delinsTer)
|
rs786203329
|
|
NM_000059.4(BRCA2):c.3362C>A (p.Ser1121Ter)
|
rs80358579
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
NM_000059.4(BRCA2):c.3365del (p.Gly1122fs)
|
rs786202160
|
|
NM_000059.4(BRCA2):c.3385_3386del (p.Gln1129fs)
|
|
|
NM_000059.4(BRCA2):c.3389_3390insG (p.Phe1130fs)
|
rs2137496075
|
|
NM_000059.4(BRCA2):c.3396del (p.Lys1132fs)
|
rs876658427
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3446dup (p.Met1149fs)
|
|
|
NM_000059.4(BRCA2):c.3452_3455del (p.Ile1151fs)
|
rs1555283249
|
|
NM_000059.4(BRCA2):c.3454_3455dup (p.Leu1152fs)
|
rs80359385
|
|
NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)
|
rs1555283256
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)
|
rs80359387
|
|
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter)
|
rs886040480
|
|
NM_000059.4(BRCA2):c.3531_3532del (p.Asp1177fs)
|
rs1566228743
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3554_3555del (p.Thr1185fs)
|
rs80359389
|
|
NM_000059.4(BRCA2):c.3570del (p.Lys1191fs)
|
rs80359390
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3628_3629del (p.Thr1209_Asp1210insTer)
|
rs1555283318
|
|
NM_000059.4(BRCA2):c.3636_3639del (p.Asn1212fs)
|
rs876659656
|
|
NM_000059.4(BRCA2):c.3648dup (p.Arg1217Ter)
|
rs2072485514
|
|
NM_000059.4(BRCA2):c.3678dup (p.Leu1227fs)
|
rs1555283351
|
|
NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)
|
rs1555283355
|
|
NM_000059.4(BRCA2):c.367_370del (p.Lys123fs)
|
rs1555280854
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
NM_000059.4(BRCA2):c.36dup (p.Glu13Ter)
|
rs80359393
|
|
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)
|
rs80359401
|
|
NM_000059.4(BRCA2):c.3724dup (p.Ser1242fs)
|
rs886040492
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)
|
rs80358623
|
|
NM_000059.4(BRCA2):c.3824_3825del (p.Ile1275fs)
|
rs1555283411
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3853dup (p.Glu1285fs)
|
rs2072490081
|
|
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3861_3865del (p.Asn1287fs)
|
rs1555283431
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
NM_000059.4(BRCA2):c.386del (p.Asp129fs)
|
rs2072334992
|
|
NM_000059.4(BRCA2):c.3870C>A (p.Cys1290Ter)
|
rs1555283445
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
NM_000059.4(BRCA2):c.3879_3880del (p.Leu1294fs)
|
rs1593900808
|
|
NM_000059.4(BRCA2):c.3880_3884del (p.Leu1294fs)
|
rs1566229335
|
|
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)
|
rs80358632
|
|
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3940_3941del (p.Lys1314fs)
|
rs1555283479
|
|
NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter)
|
rs80358644
|
|
NM_000059.4(BRCA2):c.3961_3971del (p.Asp1321fs)
|
|
|
NM_000059.4(BRCA2):c.3968_3969del (p.Lys1323fs)
|
rs2137501640
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
|
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)
|
rs747070579
|
|
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)
|
rs878853577
|
|
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.403_410dup (p.Ser137_Cys138insTer)
|
rs1566218217
|
|
NM_000059.4(BRCA2):c.4048_4051del (p.His1350fs)
|
rs80359423
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs)
|
rs80359426
|
|
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.4112dup (p.Phe1372fs)
|
rs730881606
|
|
NM_000059.4(BRCA2):c.4130del (p.Asn1377fs)
|
rs80359428
|
|
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.4151T>A (p.Leu1384Ter)
|
rs397507325
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
NM_000059.4(BRCA2):c.4188del (p.Glu1397fs)
|
rs80359434
|
|
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)
|
rs41293489
|
|
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer)
|
rs786203340
|
|
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)
|
rs398122777
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)
|
rs80359438
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)
|
rs80358665
|
|
NM_000059.4(BRCA2):c.4304del (p.Asn1435fs)
|
rs886040520
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
NM_000059.4(BRCA2):c.4317_4327del (p.Ala1439_Lys1440insTer)
|
rs2072501463
|
|
NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter)
|
rs80358670
|
|
NM_000059.4(BRCA2):c.4339del (p.Ile1446_Val1447insTer)
|
rs80359443
|
|
NM_000059.4(BRCA2):c.4350dup (p.Asp1451Ter)
|
|
|
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)
|
rs1566230144
|
|
NM_000059.4(BRCA2):c.4365del (p.Glu1456fs)
|
rs2137505553
|
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
rs876659847
|
|
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs)
|
rs397507715
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
NM_000059.4(BRCA2):c.4408_4411delinsTT (p.Ile1470fs)
|
rs2072503441
|
|
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)
|
rs80359446
|
|
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.4419del (p.Asn1473fs)
|
rs1064794337
|
|
NM_000059.4(BRCA2):c.4441G>T (p.Glu1481Ter)
|
rs1555283785
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.4458del (p.Lys1487fs)
|
rs886040532
|
|
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.4530del (p.Glu1511fs)
|
rs886040537
|
|
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
NM_000059.4(BRCA2):c.4552G>T (p.Glu1518Ter)
|
rs397507727
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
NM_000059.4(BRCA2):c.4556_4559del (p.Pro1519fs)
|
rs2137507601
|
|
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.4592_4593del (p.Lys1531fs)
|
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.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4638dup (p.Asp1547Ter)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)
|
rs876661062
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4707_4708del (p.Tyr1569_Arg1570delinsTer)
|
rs1555283911
|
|
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)
|
rs80359463
|
|
NM_000059.4(BRCA2):c.4711_4724del (p.Glu1571fs)
|
rs2072511235
|
|
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
NM_000059.4(BRCA2):c.4735_4744del (p.Ala1579fs)
|
rs2137509636
|
|
NM_000059.4(BRCA2):c.473C>G (p.Ser158Ter)
|
rs80358701
|
|
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs)
|
rs864622401
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
NM_000059.4(BRCA2):c.4766dup (p.Cys1591fs)
|
|
|
NM_000059.4(BRCA2):c.4780del (p.Met1594fs)
|
rs397507742
|
|
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter)
|
rs2072513173
|
|
NM_000059.4(BRCA2):c.4808del (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.480_487delinsGGGG (p.Cys161fs)
|
|
|
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.4859T>G (p.Leu1620Ter)
|
rs80358710
|
|
NM_000059.4(BRCA2):c.4859_4878del (p.Leu1620fs)
|
rs1566231260
|
|
NM_000059.4(BRCA2):c.486del (p.Ser163fs)
|
rs587780653
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
NM_000059.4(BRCA2):c.490_491insG (p.Leu164fs)
|
rs2137450410
|
|
NM_000059.4(BRCA2):c.4935del (p.Glu1646fs)
|
rs80359472
|
|
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.4963del (p.Tyr1655fs)
|
rs886040557
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
NM_000059.4(BRCA2):c.4976_4977insG (p.Tyr1661fs)
|
rs431825325
|
|
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)
|
rs397507753
|
|
NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)
|
rs397507346
|
|
NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)
|
rs864622073
|
|
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.5054C>A (p.Ser1685Ter)
|
rs398122791
|
|
NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter)
|
rs398122791
|
|
NM_000059.4(BRCA2):c.5065_5066delinsAAA (p.Ala1689fs)
|
rs276174852
|
|
NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter)
|
rs886038116
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter)
|
rs200265692
|
|
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer)
|
rs879254123
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)
|
rs886039318
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)
|
rs876661056
|
|
NM_000059.4(BRCA2):c.5141_5144del (p.Tyr1714fs)
|
rs80359487
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.5189del (p.Asn1730fs)
|
rs1566231879
|
|
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.5212dup (p.Thr1738fs)
|
rs1566231964
|
|
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_5218delinsC (p.Tyr1739_Leu1740insTer)
|
rs886040579
|
|
NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer)
|
rs80359494
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5219del (p.Tyr1739_Leu1740insTer)
|
rs886040582
|
|
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)
|
rs80359498
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5247T>A (p.Tyr1749Ter)
|
rs1566232050
|
|
NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)
|
rs1566232050
|
|
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.5281G>T (p.Gly1761Ter)
|
rs886038122
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5308del (p.Ser1770fs)
|
rs876659236
|
|
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.5364dup (p.Lys1789fs)
|
rs587779364
|
|
NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs)
|
rs879255329
|
|
NM_000059.4(BRCA2):c.537dup (p.Ile180fs)
|
rs1566219199
|
|
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.5425del (p.Cys1809fs)
|
rs2072529051
|
|
NM_000059.4(BRCA2):c.544G>T (p.Glu182Ter)
|
rs876660394
|
|
NM_000059.4(BRCA2):c.5454del (p.Cys1820fs)
|
rs80359513
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5479_5482delinsTTT (p.Ile1827fs)
|
rs2072530398
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
NM_000059.4(BRCA2):c.5543_5549del (p.Ser1848fs)
|
|
|
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)
|
rs397507787
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs)
|
rs886040598
|
|
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.5641_5644del (p.Lys1881fs)
|
rs276174860
|
|
NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs)
|
rs1555284326
|
|
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)
|
rs80358789
|
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
rs80358790
|
|
NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs)
|
rs876660311
|
|
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.5715dup (p.Asn1906Ter)
|
rs587782901
|
|
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5744_5745delinsTGCATT (p.Thr1915fs)
|
rs2072537450
|
|
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.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.5795del (p.His1932fs)
|
rs2137521044
|
|
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.5826_5827del (p.Val1942_Ser1943insTer)
|
rs1555284412
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5934dup (p.Ser1979Ter)
|
rs80359548
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
NM_000059.4(BRCA2):c.5962dup (p.Val1988fs)
|
rs876661236
|
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
rs80358831
|
|
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs)
|
rs2137523279
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)
|
rs80358838
|
|
NM_000059.4(BRCA2):c.6036del (p.Val2014fs)
|
rs1555284508
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6049A>T (p.Lys2017Ter)
|
rs886040630
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
NM_000059.4(BRCA2):c.6068_6072del (p.Asp2023fs)
|
rs80359555
|
|
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)
|
rs80358844
|
|
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs)
|
rs397507826
|
|
NM_000059.4(BRCA2):c.6082_6083del (p.Glu2028fs)
|
rs886040634
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs)
|
rs397507829
|
|
NM_000059.4(BRCA2):c.610del (p.Ser205fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6154dup (p.Ser2052fs)
|
rs80359562
|
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
rs786202461
|
|
NM_000059.4(BRCA2):c.6195del (p.Val2066fs)
|
rs1566234108
|
|
NM_000059.4(BRCA2):c.6201del (p.Ile2068fs)
|
rs80359565
|
|
NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)
|
rs80359567
|
|
NM_000059.4(BRCA2):c.6239dup (p.Leu2080fs)
|
rs80359569
|
|
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
|
rs2072549980
|
|
NM_000059.4(BRCA2):c.6254T>G (p.Leu2085Ter)
|
rs864622082
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
NM_000059.4(BRCA2):c.6297_6303delinsTCC (p.Arg2099fs)
|
rs1593908171
|
|
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)
|
rs80358870
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
NM_000059.4(BRCA2):c.6320del (p.Pro2107fs)
|
rs886040650
|
|
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.6335_6336del (p.Arg2112fs)
|
rs80359574
|
|
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.6373_6374insT (p.Thr2125fs)
|
|
|
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6392_6396del (p.Lys2131fs)
|
rs398122555
|
|
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs)
|
rs397507849
|
|
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)
|
rs431825342
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6408_6411dup (p.Val2138fs)
|
rs1555284670
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
NM_000059.4(BRCA2):c.6443_6444del (p.Ser2148fs)
|
rs80359589
|
|
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)
|
rs80359590
|
|
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.6447_6460del (p.Lys2150fs)
|
rs1566234646
|
|
NM_000059.4(BRCA2):c.6447del (p.Val2151fs)
|
rs886040657
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6458del (p.Pro2153fs)
|
rs786203660
|
|
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.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
NM_000059.4(BRCA2):c.6490del (p.Gln2164fs)
|
rs80359599
|
|
NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)
|
rs397507862
|
|
NM_000059.4(BRCA2):c.6491del (p.Gln2164fs)
|
rs1135401914
|
|
NM_000059.4(BRCA2):c.6513_6514del (p.Ser2172fs)
|
rs1555284730
|
|
NM_000059.4(BRCA2):c.6531dup (p.His2178fs)
|
rs886040664
|
|
NM_000059.4(BRCA2):c.6547del (p.Glu2183fs)
|
rs1566234899
|
|
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)
|
rs80359603
|
|
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter)
|
rs397507867
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.6567_6573del (p.Asn2189fs)
|
rs876660676
|
|
NM_000059.4(BRCA2):c.6574del (p.Met2192fs)
|
rs1060502392
|
|
NM_000059.4(BRCA2):c.6580dup (p.Ile2194fs)
|
rs886040668
|
|
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.6596del (p.Thr2199fs)
|
rs876658294
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6620_6623del (p.Thr2207fs)
|
|
|
NM_000059.4(BRCA2):c.6626_6627del (p.Ile2209fs)
|
rs80359610
|
|
NM_000059.4(BRCA2):c.663dup (p.Pro222fs)
|
|
|
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
|
rs80359613
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
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.6664dup (p.Tyr2222fs)
|
rs2072562018
|
|
NM_000059.4(BRCA2):c.6673del (p.Thr2225fs)
|
rs276174875
|
|
NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs)
|
rs80359619
|
|
NM_000059.4(BRCA2):c.67+1G>T
|
rs81002796
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter)
|
rs886040675
|
|
NM_000059.4(BRCA2):c.674del (p.Thr225fs)
|
rs886038054
|
|
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.6763del (p.Thr2255fs)
|
|
|
NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs)
|
rs786204279
|
|
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)
|
rs397507885
|
|
NM_000059.4(BRCA2):c.6815del (p.Arg2272fs)
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.682-2A>G
|
rs878853287
|
|
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.692dup (p.Ser231fs)
|
rs2072384782
|
|
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.6959T>A (p.Leu2320Ter)
|
rs80358923
|
|
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs)
|
rs80359631
|
|
NM_000059.4(BRCA2):c.7007+1G>C
|
rs397507891
|
|
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.700del (p.Ser234fs)
|
rs80359630
|
|
NM_000059.4(BRCA2):c.7018del (p.Glu2340fs)
|
rs2072676283
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs)
|
rs80359634
|
|
NM_000059.4(BRCA2):c.7030del (p.Ile2344fs)
|
|
|
NM_000059.4(BRCA2):c.7047del (p.Phe2349fs)
|
rs397507893
|
|
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.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)
|
rs80358943
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.715del (p.Ser239fs)
|
rs431825350
|
|
NM_000059.4(BRCA2):c.7177dup (p.Met2393fs)
|
rs397507899
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)
|
rs397507902
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
NM_000059.4(BRCA2):c.7211_7212del (p.Lys2404fs)
|
rs80359642
|
|
NM_000059.4(BRCA2):c.7219_7221delinsA (p.Val2407fs)
|
rs2072680227
|
|
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)
|
rs876659100
|
|
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.7266T>A (p.Cys2422Ter)
|
rs730882169
|
|
NM_000059.4(BRCA2):c.7277_7283del (p.Ile2426fs)
|
rs886040695
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
NM_000059.4(BRCA2):c.7342_7343del (p.Lys2448fs)
|
rs397507386
|
|
NM_000059.4(BRCA2):c.7360del (p.Ile2454fs)
|
rs80359646
|
|
NM_000059.4(BRCA2):c.7379_7382del (p.Asn2460fs)
|
rs80359648
|
|
NM_000059.4(BRCA2):c.7379del (p.Asn2460fs)
|
rs397507914
|
|
NM_000059.4(BRCA2):c.7379dup (p.Asn2460fs)
|
rs397507914
|
|
NM_000059.4(BRCA2):c.7388del (p.Asn2463fs)
|
rs1555286098
|
|
NM_000059.4(BRCA2):c.7412_7421del (p.Thr2471fs)
|
rs80359649
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
NM_000059.4(BRCA2):c.7436-2A>T
|
rs397507917
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
NM_000059.4(BRCA2):c.7500del (p.Arg2500fs)
|
rs1566241962
|
|
NM_000059.4(BRCA2):c.7504_7511del (p.Arg2502fs)
|
rs1555286255
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs)
|
rs80359660
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.756_757del (p.Asp252fs)
|
rs80359662
|
|
NM_000059.4(BRCA2):c.756del (p.Asp252fs)
|
|
|
NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)
|
rs1555286294
|
|
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs)
|
rs1555286296
|
|
NM_000059.4(BRCA2):c.7613_7614dup (p.Gln2539fs)
|
rs1566242216
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7617+1G>T
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
NM_000059.4(BRCA2):c.7618-2A>G
|
rs886040940
|
|
NM_000059.4(BRCA2):c.764dup (p.Asn255fs)
|
rs1555281474
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs)
|
rs80359670
|
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
rs80358994
|
|
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.7732G>T (p.Gly2578Ter)
|
rs1593920920
|
|
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)
|
rs80359004
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)
|
rs587782028
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
NM_000059.4(BRCA2):c.7805+1G>A
|
rs81002809
|
|
NM_000059.4(BRCA2):c.7806-1G>T
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7819_7820del (p.Thr2607fs)
|
rs2137576469
|
|
NM_000059.4(BRCA2):c.7819del (p.Thr2607fs)
|
rs1060502478
|
|
NM_000059.4(BRCA2):c.7829dup (p.Asp2611fs)
|
rs1555286826
|
|
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)
|
rs397507940
|
|
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.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
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.7963C>T (p.Gln2655Ter)
|
rs397507395
|
|
NM_000059.4(BRCA2):c.7976+1G>A
|
rs81002873
|
|
NM_000059.4(BRCA2):c.7976+2C>G
|
rs886040943
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7976G>C (p.Arg2659Thr)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7980T>G (p.Tyr2660Ter)
|
rs397507949
|
|
NM_000059.4(BRCA2):c.7987del (p.Glu2663fs)
|
rs886040738
|
|
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.8020_8021del (p.Lys2674fs)
|
rs397507952
|
|
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)
|
rs397507952
|
|
NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter)
|
rs1555286958
|
|
NM_000059.4(BRCA2):c.8053del (p.Thr2685fs)
|
rs397507958
|
|
NM_000059.4(BRCA2):c.8064_8065del (p.Val2690fs)
|
rs397507961
|
|
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs)
|
rs80359696
|
|
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.8174G>A (p.Trp2725Ter)
|
rs730881581
|
|
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter)
|
rs80359068
|
|
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)
|
rs397507966
|
|
NM_000059.4(BRCA2):c.8237_8238del (p.Thr2746fs)
|
rs80359700
|
|
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)
|
rs80359701
|
|
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)
|
rs80359704
|
|
NM_000059.4(BRCA2):c.8294delinsCTC (p.Cys2765fs)
|
|
|
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs)
|
rs398122601
|
|
NM_000059.4(BRCA2):c.8323_8324dup (p.Met2775fs)
|
rs2072761372
|
|
NM_000059.4(BRCA2):c.8330del (p.Lys2777fs)
|
rs886040762
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)
|
rs80359707
|
|
NM_000059.4(BRCA2):c.8350del (p.Arg2784fs)
|
rs1566248664
|
|
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter)
|
rs397507981
|
|
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs)
|
rs80359709
|
|
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)
|
rs483353077
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.8463dup (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)
|
rs80359099
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-9T>G
|
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)
|
rs80359102
|
|
NM_000059.4(BRCA2):c.8517C>A (p.Tyr2839Ter)
|
rs863224315
|
|
NM_000059.4(BRCA2):c.8535_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)
|
rs80359110
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
NM_000059.4(BRCA2):c.8560del (p.Tyr2854fs)
|
rs80359717
|
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
rs80359115
|
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
rs398122608
|
|
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs)
|
rs80359720
|
|
NM_000059.4(BRCA2):c.8592del (p.Leu2865fs)
|
rs1555287781
|
|
NM_000059.4(BRCA2):c.8607del (p.Gln2870fs)
|
rs1060502471
|
|
NM_000059.4(BRCA2):c.8633-2A>G
|
rs81002886
|
|
NM_000059.4(BRCA2):c.8636dup (p.Asn2879fs)
|
rs80359723
|
|
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs)
|
rs886038184
|
|
NM_000059.4(BRCA2):c.8650del (p.Tyr2884fs)
|
rs2072874502
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
NM_000059.4(BRCA2):c.8660C>G (p.Ser2887Ter)
|
rs2072874696
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8677_8678del (p.Gln2893fs)
|
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs)
|
rs397507410
|
|
NM_000059.4(BRCA2):c.8696_8712del (p.Gln2899fs)
|
rs2137612961
|
|
NM_000059.4(BRCA2):c.8724del (p.Lys2909fs)
|
rs1555288172
|
|
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)
|
rs2072875960
|
|
NM_000059.4(BRCA2):c.8744_8745insCTTA (p.Tyr2916fs)
|
rs1555288177
|
|
NM_000059.4(BRCA2):c.8745_8748dup (p.Glu2918fs)
|
rs80359727
|
|
NM_000059.4(BRCA2):c.8754+1G>A
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter)
|
rs80359133
|
|
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)
|
rs80359134
|
|
NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter)
|
rs886040791
|
|
NM_000059.4(BRCA2):c.8805_8806dup (p.Leu2936fs)
|
rs1593936593
|
|
NM_000059.4(BRCA2):c.8807T>A (p.Leu2936Ter)
|
rs398122714
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.8829_8830del (p.Gln2943fs)
|
rs2137619603
|
|
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)
|
rs431825371
|
|
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)
|
rs398122715
|
|
NM_000059.4(BRCA2):c.8873dup (p.Glu2959fs)
|
rs1593936782
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
|
rs80359144
|
|
NM_000059.4(BRCA2):c.8940dup (p.Glu2981fs)
|
rs80359732
|
|
NM_000059.4(BRCA2):c.8946dup (p.Asp2983fs)
|
rs80359733
|
|
NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)
|
rs80359146
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)
|
rs397508024
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.8978_8991del (p.Ser2993fs)
|
rs397508026
|
|
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)
|
rs864622200
|
|
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter)
|
rs397508028
|
|
NM_000059.4(BRCA2):c.8992_9025del (p.Ser2998fs)
|
rs1555288450
|
|
NM_000059.4(BRCA2):c.8997_8998del (p.Leu3000fs)
|
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9014_9015del (p.Arg3005fs)
|
rs876661023
|
|
NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter)
|
rs80359154
|
|
NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter)
|
rs80359154
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)
|
rs886040823
|
|
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)
|
rs80359170
|
|
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)
|
rs80359175
|
|
NM_000059.4(BRCA2):c.918_919del (p.Asp306fs)
|
rs1555281631
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs)
|
rs397508040
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9252_9253delinsG (p.Thr3085fs)
|
rs2137625898
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9270del (p.Phe3090fs)
|
rs878853619
|
|
NM_000059.4(BRCA2):c.9275_9276del (p.Tyr3092fs)
|
rs397508043
|
|
NM_000059.4(BRCA2):c.9275_9278del (p.Tyr3092fs)
|
rs80359754
|
|
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)
|
rs80359197
|
|
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.930_931del (p.Cys311fs)
|
rs80359755
|
|
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter)
|
rs771203198
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)
|
rs80359210
|
|
NM_000059.4(BRCA2):c.9376del (p.Gln3126fs)
|
rs398122612
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter)
|
rs876661242
|
|
NM_000059.4(BRCA2):c.9398C>G (p.Ser3133Ter)
|
|
|
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)
|
rs876659435
|
|
NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)
|
rs80359762
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter)
|
rs80359218
|
|
NM_000059.4(BRCA2):c.9455_9456del (p.Glu3152fs)
|
rs80359764
|
|
NM_000059.4(BRCA2):c.9458del (p.Gly3153fs)
|
rs397508052
|
|
NM_000059.4(BRCA2):c.9466del (p.Gln3156fs)
|
rs80359766
|
|
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter)
|
rs80359222
|
|
NM_000059.4(BRCA2):c.9498del (p.Glu3167fs)
|
rs397508055
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)
|
rs80359769
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
NM_000059.4(BRCA2):c.959del (p.Leu320fs)
|
rs1060502454
|
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
rs80359234
|
|
NM_000059.4(BRCA2):c.963_966del (p.Gln321_Lys322insTer)
|
rs1566222463
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
NM_000059.4(BRCA2):c.968_971del (p.Val323fs)
|
rs886040847
|
|
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)
|
rs886040851
|
|
NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)
|
rs1555289966
|
|
NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)
|
rs886040854
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.106del (p.Ala36fs)
|
rs398123152
|
|
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)
|
rs398123152
|
|
NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter)
|
rs1554656253
|
|
NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer)
|
rs1131691187
|
|
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)
|
rs104894095
|
|
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)
|
rs730881674
|
|
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter)
|
rs121913388
|
|
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)
|
rs730881675
|
|
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro)
|
rs878853647
|
|
NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter)
|
rs121913384
|
|
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp)
|
rs137854599
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)
|
rs121913389
|
|
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)
|
rs768966657
|
|
NM_000077.5(CDKN2A):c.358del (p.Glu120fs)
|
rs1060501263
|
|
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)
|
rs141798398
|
|
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)
|
rs104894098
|
|
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)
|
rs45476696
|
|
NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)
|
rs1131691188
|
|
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)
|
rs864622263
|
|
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter)
|
rs1554656411
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1129_1130del (p.Lys377fs)
|
rs1558660612
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.114del (p.Ala40fs)
|
rs1558644995
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1176_1178delinsGGAA (p.Asp392fs)
|
rs1114167718
|
|
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)
|
rs587779914
|
|
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)
|
rs1114167756
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1417del (p.Leu473fs)
|
rs1553412824
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)
|
rs1553412835
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1458dup (p.Glu487Ter)
|
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
|
rs1669364351
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1828_1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)
|
rs1553413253
|
|
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)
|
rs63751097
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
|
rs63751167
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
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.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2092del (p.Gln698fs)
|
rs1669419578
|
|
NM_000179.3(MSH6):c.2149_2155del (p.Val717fs)
|
rs1558664474
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2162del (p.Arg721fs)
|
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)
|
rs745483465
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2290dup (p.Thr764fs)
|
rs1553413663
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)
|
rs864622585
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.246dup (p.Ala83fs)
|
rs1668136752
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2574dup (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)
|
rs1060502876
|
|
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.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.2913dup (p.Ile972fs)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3018del (p.Trp1007fs)
|
rs1669539415
|
|
NM_000179.3(MSH6):c.3028del (p.Thr1010fs)
|
rs1114167773
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
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.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)
|
rs1553414578
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3190_3224dup (p.Cys1075fs)
|
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
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.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3567_3568del (p.Phe1191fs)
|
rs1669958074
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3649_3650insCTGCAACATTT (p.Arg1217fs)
|
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.3700G>T (p.Glu1234Ter)
|
rs35717727
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3722dup (p.Cys1241fs)
|
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)
|
rs587779287
|
|
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.3766del (p.Tyr1256fs)
|
rs1553333127
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3806_3818del (p.Cys1269fs)
|
rs1670089838
|
|
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_3882dup (p.Pro1295fs)
|
|
|
NM_000179.3(MSH6):c.3861_3862del (p.Tyr1287_Lys1288delinsTer)
|
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)
|
rs1064793895
|
|
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)
|
rs1553333605
|
|
NM_000179.3(MSH6):c.3933_3935delinsCA (p.Glu1311fs)
|
rs1670129588
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3951_3952dup (p.Arg1318fs)
|
rs1114167790
|
|
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3956_3974dup (p.Lys1325_Met1326insSerLysArgIleTer)
|
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)
|
rs1553333700
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)
|
rs2104567084
|
|
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.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
NM_000179.3(MSH6):c.468_471del (p.Glu158fs)
|
rs587779941
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.58dup (p.Ala20fs)
|
rs1553408136
|
|
NM_000179.3(MSH6):c.706_707del (p.Gln236fs)
|
rs1553412129
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.776dup (p.Gly260fs)
|
rs1558659265
|
|
NM_000179.3(MSH6):c.80_83del (p.Ala27fs)
|
rs1668116875
|
|
NM_000179.3(MSH6):c.868del (p.Gly289_Leu290insTer)
|
rs2104302672
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1042_1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1105dup (p.Ser369fs)
|
rs1060500699
|
|
NM_000249.4(MLH1):c.1130dup (p.Val378fs)
|
rs1553650741
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.1239dup (p.Glu414fs)
|
rs2125883954
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.132del (p.Thr45fs)
|
rs2081162085
|
|
NM_000249.4(MLH1):c.1331dup (p.Asn444fs)
|
rs2083443709
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1418_1419del (p.His473fs)
|
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1569del (p.Met524fs)
|
rs1559574795
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)
|
rs587778929
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)
|
rs1553662753
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1773dup (p.Ser592Ter)
|
|
|
NM_000249.4(MLH1):c.1781del (p.Glu594fs)
|
|
|
NM_000249.4(MLH1):c.178C>T (p.Gln60Ter)
|
rs2081170615
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)
|
rs863225378
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)
|
rs786201990
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.195del (p.Thr66fs)
|
rs267607715
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2103+1G>T
|
rs267607888
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2148_2176del (p.Glu717fs)
|
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.381-2A>T
|
rs267607743
|
|
NM_000249.4(MLH1):c.393_396del (p.Asp132fs)
|
rs1559521039
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.497_498delinsC (p.Leu166fs)
|
rs1553642718
|
|
NM_000249.4(MLH1):c.503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.588+1G>T
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.597_598del (p.Glu199fs)
|
rs63751637
|
|
NM_000249.4(MLH1):c.604_605delinsA (p.Ala202fs)
|
|
|
NM_000249.4(MLH1):c.632C>G (p.Ser211Ter)
|
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.688G>T (p.Glu230Ter)
|
rs1466223609
|
|
NM_000249.4(MLH1):c.699T>A (p.Cys233Ter)
|
rs764085979
|
|
NM_000249.4(MLH1):c.727_730del (p.Asn243fs)
|
rs267607787
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)
|
rs63750792
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)
|
rs1553648149
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1036_1037dup (p.Lys347fs)
|
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1051dup (p.Met351fs)
|
|
|
NM_000251.3(MSH2):c.1071_1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1077-2A>C
|
rs267607943
|
|
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1143del (p.Arg382fs)
|
rs1553356594
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1154del (p.Pro385fs)
|
rs1673938031
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.130_131delinsG (p.Thr44fs)
|
rs1672244370
|
|
NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)
|
rs63750957
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
NM_000251.3(MSH2):c.1401dup (p.Phe468fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)
|
rs63749947
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1471A>T (p.Lys491Ter)
|
rs1666730991
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)
|
rs63750780
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1648A>T (p.Lys550Ter)
|
rs1558511191
|
|
NM_000251.3(MSH2):c.1673del (p.Ser558fs)
|
rs1573560283
|
|
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)
|
rs1114167816
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1714del (p.Glu572fs)
|
|
|
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)
|
rs63751298
|
|
NM_000251.3(MSH2):c.174dup (p.Lys59fs)
|
rs1672250622
|
|
NM_000251.3(MSH2):c.1770del (p.Glu590fs)
|
rs1573566217
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.182del (p.Gln61fs)
|
rs1553348882
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)
|
rs1380847972
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1889_1892del (p.Gly630fs)
|
rs63750960
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)
|
rs63750078
|
|
NM_000251.3(MSH2):c.1964del (p.Val655fs)
|
rs1667248887
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.212del
|
rs1672547846
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2154del (p.Gln718fs)
|
rs1667312762
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2332del (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2365_2366delinsT (p.Ala789fs)
|
rs2104405937
|
|
NM_000251.3(MSH2):c.2391_2398delinsG (p.Asn798fs)
|
rs1667399090
|
|
NM_000251.3(MSH2):c.2395_2398del (p.Asn799fs)
|
rs1667399535
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2519dup (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.255del (p.Phe85fs)
|
rs63751158
|
|
NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
|
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.454dup (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.513del (p.Lys172fs)
|
rs63750933
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)
|
rs63750037
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.563del (p.Glu188fs)
|
rs1114167885
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.680_681del (p.Arg227fs)
|
rs1558461683
|
|
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
|
rs587782537
|
|
NM_000251.3(MSH2):c.686_687del (p.Lys229fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)
|
rs369670665
|
|
NM_000251.3(MSH2):c.771_772del (p.Leu258fs)
|
rs1672830111
|
|
NM_000251.3(MSH2):c.788_789del (p.Asn263fs)
|
rs63751614
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.832_833del (p.Glu278fs)
|
rs1672947148
|
|
NM_000251.3(MSH2):c.839dup (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
|
|
|
NM_000251.3(MSH2):c.858del (p.Phe286fs)
|
rs1553352474
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.882del (p.Phe294fs)
|
rs63751115
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
NM_000251.3(MSH2):c.96dup (p.Thr33fs)
|
rs1672239981
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1027-2A>G
|
rs1085308041
|
|
NM_000314.8(PTEN):c.159_163del (p.Arg55fs)
|
rs2132187850
|
|
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
|
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000314.8(PTEN):c.469del (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.473_478delinsCAAAGGC (p.Val158fs)
|
rs1859983725
|
|
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)
|
rs786204910
|
|
NM_000314.8(PTEN):c.520dup (p.Tyr174fs)
|
rs1085308052
|
|
NM_000314.8(PTEN):c.635-1G>C
|
rs876661024
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)
|
rs786202918
|
|
NM_000314.8(PTEN):c.741_742dup (p.Pro248fs)
|
rs1554825222
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs)
|
rs1860548195
|
|
NM_000314.8(PTEN):c.940G>T (p.Glu314Ter)
|
rs1455551840
|
|
NM_000314.8(PTEN):c.968dup (p.Asn323fs)
|
rs121913291
|
|
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer)
|
rs1555735008
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
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.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter)
|
rs878853995
|
|
NM_000465.4(BARD1):c.1185del (p.Pro396fs)
|
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
NM_000465.4(BARD1):c.1210del (p.Tyr404fs)
|
rs1694947319
|
|
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs)
|
rs1553622164
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
NM_000465.4(BARD1):c.1282G>T (p.Gly428Ter)
|
rs1553622106
|
|
NM_000465.4(BARD1):c.1323dup (p.Pro442fs)
|
rs1694365908
|
|
NM_000465.4(BARD1):c.1336_1337del (p.Tyr446fs)
|
rs1694364224
|
|
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)
|
rs1553619713
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter)
|
rs876658429
|
|
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs)
|
rs1553616361
|
|
NM_000465.4(BARD1):c.1646_1647dup (p.Glu550fs)
|
rs1693501054
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
NM_000465.4(BARD1):c.1758del (p.Ser586fs)
|
rs1559387024
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)
|
rs878854003
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
NM_000465.4(BARD1):c.190G>T (p.Gly64Ter)
|
rs1695792091
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1949del (p.Lys650fs)
|
rs1692302934
|
|
NM_000465.4(BARD1):c.1952_1958del (p.Tyr651fs)
|
rs1692301420
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
NM_000465.4(BARD1):c.266del (p.Pro89fs)
|
rs1553624802
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
NM_000465.4(BARD1):c.373G>T (p.Glu125Ter)
|
rs1553622720
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
NM_000465.4(BARD1):c.51del (p.Asn18fs)
|
|
|
NM_000465.4(BARD1):c.535_536del (p.Ser179fs)
|
rs1695020358
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.592del (p.Ala198fs)
|
rs876660761
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs)
|
rs1695009134
|
|
NM_000465.4(BARD1):c.623dup (p.Lys209fs)
|
rs587780033
|
|
NM_000465.4(BARD1):c.624dup (p.Lys209fs)
|
rs1553622558
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
NM_000465.4(BARD1):c.899del (p.Pro300fs)
|
|
|
NM_000465.4(BARD1):c.904A>T (p.Lys302Ter)
|
rs1559424634
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
NM_000465.4(BARD1):c.999dup (p.Lys334Ter)
|
rs1559424302
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1150_1151del (p.Leu384fs)
|
rs2128737358
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
|
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs)
|
rs1783098862
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1488_1489insTGCC (p.Gly497fs)
|
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer)
|
rs1785429855
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1737del (p.Phe579fs)
|
rs1782994894
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.176del (p.Lys59fs)
|
rs1785429311
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)
|
rs1562626011
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.261_265del (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.33del (p.Ala12fs)
|
rs1554306605
|
|
NM_000535.7(PMS2):c.343del (p.Cys115fs)
|
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.525_534del (p.Asn176fs)
|
rs1785187053
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.712del (p.Ser238fs)
|
rs1554301561
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter)
|
rs1554306528
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.829dup (p.Thr277fs)
|
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1028del (p.Glu343fs)
|
rs2150994907
|
|
NM_000546.6(TP53):c.142_152dup (p.Gln52fs)
|
rs2073481789
|
|
NM_000546.6(TP53):c.294_298del (p.Ser99fs)
|
rs2151039987
|
|
NM_000546.6(TP53):c.328del (p.Arg110fs)
|
rs587780066
|
|
NM_000546.6(TP53):c.343del (p.His115fs)
|
rs2073453049
|
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
rs730882001
|
|
NM_000546.6(TP53):c.52del (p.Thr18fs)
|
rs876658627
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.602del (p.Leu201fs)
|
rs2073338748
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
|
rs121912652
|
|
NM_000546.6(TP53):c.772G>T (p.Glu258Ter)
|
rs121912652
|
|
NM_000546.6(TP53):c.795_796delinsCT (p.Gly266Ter)
|
rs1555525344
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.839del (p.Arg280fs)
|
rs1567547721
|
|
NM_000546.6(TP53):c.891dup (p.Glu298fs)
|
rs2151014373
|
|
NM_000546.6(TP53):c.912dup (p.Lys305Ter)
|
rs1567546818
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)
|
rs764735889
|
|
NM_000546.6(TP53):c.968_986del (p.Leu323fs)
|
rs1567545918
|
|
NM_000546.6(TP53):c.991C>T (p.Gln331Ter)
|
rs1597359130
|
|
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1085del (p.Val362fs)
|
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs)
|
|
|
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)
|
rs1553125243
|
|
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs)
|
rs1553125075
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
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.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.197del (p.Thr66fs)
|
|
|
NM_001048174.2(MUTYH):c.210del (p.Ser71fs)
|
rs1557486313
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)
|
rs876660787
|
|
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)
|
rs2149161607
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter)
|
rs1645192561
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.54_57dup (p.Glu20fs)
|
rs1645571595
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)
|
rs1645561773
|
|
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)
|
rs1060501324
|
|
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)
|
rs1057517456
|
|
NM_001127511.3(APC):c.-191T>C
|
rs879253783
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)
|
rs771077929
|
|
NM_002878.4(RAD51D):c.23_27delinsA (p.Leu8fs)
|
rs2091798919
|
|
NM_002878.4(RAD51D):c.254del (p.Gly85fs)
|
rs1567735277
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.326dup (p.Gly110fs)
|
rs730882119
|
|
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)
|
rs786202434
|
|
NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter)
|
rs1555568473
|
|
NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter)
|
rs1555568382
|
|
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs)
|
rs876658297
|
|
NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)
|
|
|
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)
|
rs1057521922
|
|
NM_002878.4(RAD51D):c.508del (p.Val170fs)
|
rs1567727934
|
|
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter)
|
rs587782695
|
|
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)
|
rs1555567610
|
|
NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer)
|
rs587781527
|
|
NM_002878.4(RAD51D):c.664del (p.Glu222fs)
|
rs1555567586
|
|
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)
|
rs1567726305
|
|
NM_002878.4(RAD51D):c.748del (p.His250fs)
|
rs587780105
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
NM_004329.3(BMPR1A):c.1065del (p.Lys355fs)
|
rs1564724278
|
|
NM_004329.3(BMPR1A):c.1183del (p.Asp395fs)
|
rs1843664957
|
|
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)
|
rs786201040
|
|
NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)
|
rs1413243663
|
|
NM_004329.3(BMPR1A):c.275del (p.Gly92fs)
|
rs1554888317
|
|
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)
|
rs876660442
|
|
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)
|
rs1131691178
|
|
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)
|
rs587782682
|
|
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)
|
rs587782400
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
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.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)
|
rs1567507825
|
|
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)
|
rs1555509636
|
|
NM_004360.5(CDH1):c.1307del (p.Ile435_Leu436insTer)
|
rs2152133642
|
|
NM_004360.5(CDH1):c.1380del (p.Pro461fs)
|
rs1567508847
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
NM_004360.5(CDH1):c.1443del (p.Asn481fs)
|
rs1555516137
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
NM_004360.5(CDH1):c.1710del (p.Asn570fs)
|
rs1961081411
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
|
rs1555517153
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)
|
rs1555515197
|
|
NM_004360.5(CDH1):c.455_465del (p.Gln152fs)
|
rs1555515210
|
|
NM_004360.5(CDH1):c.457_460del (p.Lys153fs)
|
rs1555515214
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter)
|
rs895188181
|
|
NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter)
|
rs1553645146
|
|
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer)
|
rs886058705
|
|
NM_004656.4(BAP1):c.1213G>T (p.Glu405Ter)
|
rs1705082679
|
|
NM_004656.4(BAP1):c.127dup (p.Val43fs)
|
rs1553646061
|
|
NM_004656.4(BAP1):c.1375del (p.Leu459fs)
|
|
|
NM_004656.4(BAP1):c.1381del (p.Ile461fs)
|
rs1559586965
|
|
NM_004656.4(BAP1):c.155G>A (p.Trp52Ter)
|
rs1559591728
|
|
NM_004656.4(BAP1):c.1565_1566del (p.Pro522fs)
|
rs1705043129
|
|
NM_004656.4(BAP1):c.1652delinsATC (p.Arg551fs)
|
|
|
NM_004656.4(BAP1):c.1717del (p.Leu573fs)
|
rs869025212
|
|
NM_004656.4(BAP1):c.1881_1882delinsG (p.Tyr627_Ser628delinsTer)
|
rs1705020162
|
|
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs)
|
rs1559585778
|
|
NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs)
|
rs1559585465
|
|
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)
|
rs1578219056
|
|
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)
|
rs387906848
|
|
NM_004656.4(BAP1):c.458_459del (p.Pro153fs)
|
rs1559590613
|
|
NM_004656.4(BAP1):c.510dup (p.Val171fs)
|
rs1553645809
|
|
NM_004656.4(BAP1):c.592del (p.Glu198fs)
|
rs1205668341
|
|
NM_004656.4(BAP1):c.805G>T (p.Glu269Ter)
|
rs1553645509
|
|
NM_004656.4(BAP1):c.855dup (p.Lys286fs)
|
rs1553645486
|
|
NM_004656.4(BAP1):c.898_899del (p.Arg300fs)
|
rs1578224341
|
|
NM_004656.4(BAP1):c.956C>G (p.Ser319Ter)
|
rs1553645329
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)
|
rs587781359
|
|
NM_005359.6(SMAD4):c.383_384del (p.Val128fs)
|
|
|
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)
|
rs377767326
|
|
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter)
|
rs1449334786
|
|
NM_005359.6(SMAD4):c.692dup (p.Ser232fs)
|
rs377767334
|
|
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.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1077del (p.Glu360fs)
|
rs2145816035
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
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.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.1366_1367dup (p.Glu457fs)
|
rs2145792867
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs)
|
rs1555912060
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
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.245_275delinsCT (p.Asp82fs)
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.655_659del (p.Glu219fs)
|
rs2053691493
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs)
|
rs1555932735
|
|
NM_007194.4(CHEK2):c.870del (p.Phe292fs)
|
rs1555916987
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.945dup (p.Asn316fs)
|
rs2052765649
|
|
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)
|
rs397508826
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer)
|
rs80357774
|
|
NM_007294.4(BRCA1):c.1044_1045del (p.Cys348_Glu349delinsTer)
|
rs1555592601
|
|
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter)
|
rs80356908
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
NM_007294.4(BRCA1):c.105dup (p.Ser36fs)
|
rs1567817957
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
NM_007294.4(BRCA1):c.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)
|
rs80357139
|
|
NM_007294.4(BRCA1):c.1123_1124delinsA (p.Leu375fs)
|
rs2053989334
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
NM_007294.4(BRCA1):c.1159del (p.Ser387fs)
|
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
|
rs80357972
|
|
NM_007294.4(BRCA1):c.1209del (p.Glu404fs)
|
rs1567800523
|
|
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)
|
rs80357083
|
|
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)
|
rs80357417
|
|
NM_007294.4(BRCA1):c.1277_1292del (p.Ser426fs)
|
rs2053962732
|
|
NM_007294.4(BRCA1):c.1281_1312delinsATATGT (p.Lys428fs)
|
rs2154459525
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs)
|
rs80357570
|
|
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)
|
rs397508854
|
|
NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter)
|
rs80356915
|
|
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)
|
rs397508857
|
|
NM_007294.4(BRCA1):c.134+2T>C
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+3A>C
|
rs80358064
|
|
NM_007294.4(BRCA1):c.1348A>T (p.Lys450Ter)
|
rs2053952990
|
|
NM_007294.4(BRCA1):c.1354del (p.Ser451_Val452insTer)
|
rs886039946
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs)
|
rs397508867
|
|
NM_007294.4(BRCA1):c.1416del (p.Asn473fs)
|
rs1555591774
|
|
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)
|
rs80357505
|
|
NM_007294.4(BRCA1):c.143del (p.Met48fs)
|
rs80357637
|
|
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1492del (p.Leu498fs)
|
rs80357527
|
|
NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs)
|
rs886039955
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)
|
rs397508877
|
|
NM_007294.4(BRCA1):c.1521_1531del (p.Thr509fs)
|
rs1555591596
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)
|
rs431825387
|
|
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)
|
rs142074233
|
|
NM_007294.4(BRCA1):c.1601_1602del (p.Gln534fs)
|
rs878854933
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter)
|
rs80356952
|
|
NM_007294.4(BRCA1):c.1636_1654del (p.Met546fs)
|
rs80359881
|
|
NM_007294.4(BRCA1):c.166A>T (p.Lys56Ter)
|
rs2054785999
|
|
NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)
|
rs397508903
|
|
NM_007294.4(BRCA1):c.1729_1730del (p.Glu577fs)
|
rs80357834
|
|
NM_007294.4(BRCA1):c.1765del (p.Ser589fs)
|
rs1555591273
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter)
|
rs80357118
|
|
NM_007294.4(BRCA1):c.179del (p.Gln60fs)
|
rs80357591
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1817del (p.Pro606fs)
|
rs397508910
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
NM_007294.4(BRCA1):c.1860del (p.His621fs)
|
rs730881459
|
|
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)
|
rs80356950
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1901_1910del (p.Pro634fs)
|
rs1567797748
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.1952del (p.Lys651fs)
|
rs80357885
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
|
rs80357753
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1965C>G (p.Tyr655Ter)
|
rs886039987
|
|
NM_007294.4(BRCA1):c.1987del (p.Ser663fs)
|
|
|
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter)
|
rs80356889
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter)
|
rs397508929
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)
|
rs397508932
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.2061_2064del (p.Thr688fs)
|
rs1597872420
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)
|
rs876660282
|
|
NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs)
|
rs431825389
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
NM_007294.4(BRCA1):c.2149_2152del (p.Glu717fs)
|
rs1567796819
|
|
NM_007294.4(BRCA1):c.2156_2163dup (p.Val722fs)
|
rs1555590322
|
|
NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs)
|
rs886040005
|
|
NM_007294.4(BRCA1):c.2160del (p.Glu720fs)
|
rs1567796774
|
|
NM_007294.4(BRCA1):c.2178del (p.Pro727fs)
|
rs2053810963
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs)
|
rs397508946
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs)
|
rs397508951
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2245del (p.Asp749fs)
|
rs2053796108
|
|
NM_007294.4(BRCA1):c.2246_2280del (p.Asp749fs)
|
rs886037998
|
|
NM_007294.4(BRCA1):c.2260G>T (p.Gly754Ter)
|
rs2053792392
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)
|
rs80357780
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2311_2317del (p.Pro773fs)
|
rs1060502354
|
|
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)
|
rs80357725
|
|
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)
|
rs80357444
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs)
|
rs80357820
|
|
NM_007294.4(BRCA1):c.2359del (p.Glu787fs)
|
rs80357739
|
|
NM_007294.4(BRCA1):c.2359dup (p.Glu787fs)
|
rs80357739
|
|
NM_007294.4(BRCA1):c.2362del (p.Val788fs)
|
rs876659136
|
|
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)
|
rs62625306
|
|
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)
|
rs80357695
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
NM_007294.4(BRCA1):c.2407_2408del (p.Gln804fs)
|
rs786202919
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2416_2417del (p.Ala806fs)
|
rs1555589706
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2473_2475delinsTAA (p.Asp825Ter)
|
rs2154375606
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
NM_007294.4(BRCA1):c.2498T>A (p.Leu833Ter)
|
rs2053749811
|
|
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)
|
rs398122661
|
|
NM_007294.4(BRCA1):c.2515del (p.His839fs)
|
rs80357607
|
|
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)
|
rs398122662
|
|
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs)
|
rs80357968
|
|
NM_007294.4(BRCA1):c.2561_2565del (p.Ala854fs)
|
rs397508981
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)
|
rs397508986
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)
|
rs397508988
|
|
NM_007294.4(BRCA1):c.2654dup (p.Ser886fs)
|
rs398122663
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2686del (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs)
|
rs886040062
|
|
NM_007294.4(BRCA1):c.2695del (p.Val899fs)
|
rs1567794603
|
|
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs)
|
rs80359879
|
|
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)
|
rs80357731
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
NM_007294.4(BRCA1):c.2740_2750del (p.Glu914fs)
|
rs1567794393
|
|
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)
|
rs80357377
|
|
NM_007294.4(BRCA1):c.2762del (p.Gln921fs)
|
rs80357703
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
NM_007294.4(BRCA1):c.2766del (p.Val923fs)
|
rs80357812
|
|
NM_007294.4(BRCA1):c.277_279delinsCC (p.Phe93fs)
|
rs2054677202
|
|
NM_007294.4(BRCA1):c.279_280delinsGAA (p.Phe93fs)
|
rs1555596663
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)
|
rs886037972
|
|
NM_007294.4(BRCA1):c.2815_2827del (p.Val939fs)
|
rs2053690127
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs)
|
rs483353091
|
|
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2921del (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)
|
rs878853292
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)
|
rs397507207
|
|
NM_007294.4(BRCA1):c.2984del (p.Lys995fs)
|
rs1597866339
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2T>G (p.Met1Arg)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>C
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-2A>G
|
rs80358011
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)
|
rs80357004
|
|
NM_007294.4(BRCA1):c.3103_3104del (p.Val1035fs)
|
rs1555588392
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer)
|
rs80357702
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter)
|
rs1555588220
|
|
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter)
|
rs2053627043
|
|
NM_007294.4(BRCA1):c.3214del (p.Glu1071_Leu1072insTer)
|
rs80357923
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.3226_3229del (p.Arg1076fs)
|
rs2053623304
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)
|
rs1135401859
|
|
NM_007294.4(BRCA1):c.3253A>T (p.Arg1085Ter)
|
rs1432504119
|
|
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs)
|
rs80357624
|
|
NM_007294.4(BRCA1):c.3255del (p.Arg1085fs)
|
rs2053619372
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter)
|
rs80357402
|
|
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)
|
rs397509051
|
|
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.328_329del (p.Lys110fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3292_3293del (p.Leu1098fs)
|
rs80357992
|
|
NM_007294.4(BRCA1):c.3294del (p.Pro1099fs)
|
rs876658626
|
|
NM_007294.4(BRCA1):c.3296del (p.Pro1099fs)
|
rs80357815
|
|
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)
|
rs80357106
|
|
NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3329del (p.Lys1110fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)
|
rs397509058
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs)
|
rs397509060
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)
|
rs80357405
|
|
NM_007294.4(BRCA1):c.3398T>A (p.Leu1133Ter)
|
rs80356971
|
|
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)
|
rs80357018
|
|
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.342del (p.Pro115fs)
|
rs886040129
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)
|
rs80357808
|
|
NM_007294.4(BRCA1):c.3475del (p.Glu1158_Ile1159insTer)
|
rs1555587638
|
|
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)
|
rs80357781
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter)
|
rs397509079
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3599_3600del (p.Gln1200fs)
|
rs398122674
|
|
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)
|
rs80357980
|
|
NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)
|
rs80357455
|
|
NM_007294.4(BRCA1):c.3624dup (p.Leu1209fs)
|
rs80357512
|
|
NM_007294.4(BRCA1):c.3629_3630del (p.Glu1210fs)
|
rs80357589
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)
|
rs80357356
|
|
NM_007294.4(BRCA1):c.3665del (p.Glu1222fs)
|
rs1567790674
|
|
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)
|
rs80357797
|
|
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)
|
rs398122677
|
|
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)
|
rs80357162
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
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.3759dup (p.Lys1254Ter)
|
rs80357687
|
|
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
|
rs80357848
|
|
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)
|
rs1085307902
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
|
rs80357545
|
|
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)
|
rs80357530
|
|
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)
|
rs273900717
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)
|
rs1064793054
|
|
NM_007294.4(BRCA1):c.38del (p.Asn13fs)
|
|
|
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)
|
rs80357461
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs)
|
rs80357864
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)
|
rs80357021
|
|
NM_007294.4(BRCA1):c.4022delinsGGACC (p.Val1341fs)
|
rs2053483189
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4036G>T (p.Glu1346Ter)
|
|
|
NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter)
|
rs28897689
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)
|
rs886040191
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
NM_007294.4(BRCA1):c.4122_4123del (p.Ser1374fs)
|
rs80357691
|
|
NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs)
|
rs80357921
|
|
NM_007294.4(BRCA1):c.4138dup (p.Glu1380fs)
|
|
|
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs)
|
rs397509142
|
|
NM_007294.4(BRCA1):c.415_416del (p.Gln139fs)
|
|
|
NM_007294.4(BRCA1):c.415del (p.Gln139fs)
|
rs1555596315
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4165del (p.Ser1389fs)
|
rs1567788282
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA
|
rs273900724
|
|
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)
|
rs397509151
|
|
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
|
rs886040218
|
|
NM_007294.4(BRCA1):c.4240dup (p.Leu1414fs)
|
rs397509154
|
|
NM_007294.4(BRCA1):c.424_431del (p.Pro142fs)
|
rs1555596294
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter)
|
rs886040220
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4282del (p.Ser1428fs)
|
rs1555584125
|
|
NM_007294.4(BRCA1):c.4289del (p.Pro1430fs)
|
|
|
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)
|
rs80357790
|
|
NM_007294.4(BRCA1):c.431del (p.Asn144fs)
|
rs397509162
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs)
|
rs397509164
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
NM_007294.4(BRCA1):c.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1del
|
rs397509165
|
|
NM_007294.4(BRCA1):c.4357+6T>C
|
rs80358143
|
|
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)
|
rs80356932
|
|
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer)
|
rs1064793577
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter)
|
rs397509171
|
|
NM_007294.4(BRCA1):c.441+1G>A
|
rs397509172
|
|
NM_007294.4(BRCA1):c.441+2T>A
|
rs397509173
|
|
NM_007294.4(BRCA1):c.4414del (p.Leu1472fs)
|
rs1567779686
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
NM_007294.4(BRCA1):c.4438dup (p.Ser1480fs)
|
rs2052727486
|
|
NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)
|
rs80357148
|
|
NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs)
|
rs80357854
|
|
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>C (p.Arg1495Thr)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-2A>C
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4515del (p.Asp1505fs)
|
rs2154021596
|
|
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)
|
rs273900736
|
|
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.4539C>A (p.Cys1513Ter)
|
rs2052610048
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)
|
rs80357915
|
|
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)
|
rs80356992
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4635del (p.His1545fs)
|
rs2052594151
|
|
NM_007294.4(BRCA1):c.4650del (p.Ser1551fs)
|
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.4656del (p.Leu1553fs)
|
rs2052589590
|
|
NM_007294.4(BRCA1):c.465del (p.Gln155fs)
|
rs1555594954
|
|
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)
|
rs1555581812
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer)
|
rs1555581087
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer)
|
rs80357718
|
|
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)
|
rs1555581017
|
|
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
|
rs80357837
|
|
NM_007294.4(BRCA1):c.4756G>T (p.Glu1586Ter)
|
rs2052414656
|
|
NM_007294.4(BRCA1):c.4794del (p.Ala1599fs)
|
|
|
NM_007294.4(BRCA1):c.4806del (p.Gln1604fs)
|
rs886038036
|
|
NM_007294.4(BRCA1):c.4829del (p.Ser1610fs)
|
rs2052400799
|
|
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)
|
rs786202064
|
|
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)
|
rs1555580840
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4905_4906del (p.Lys1636fs)
|
rs397509203
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
NM_007294.4(BRCA1):c.4941del (p.Asn1647fs)
|
rs80357905
|
|
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs)
|
rs80357655
|
|
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.4986dup (p.Met1663fs)
|
rs1555580601
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)
|
rs80357204
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.5059del (p.Val1687fs)
|
rs1555579633
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.512dup (p.Gln172fs)
|
rs587781487
|
|
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter)
|
rs876658672
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>T
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5155dup
|
rs80357743
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter)
|
rs80357291
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5212G>C (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)
|
rs80357367
|
|
NM_007294.4(BRCA1):c.5239del (p.Gln1747fs)
|
rs886040282
|
|
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)
|
rs397509247
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5278-1G>A
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)
|
rs397509256
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)
|
rs80357581
|
|
NM_007294.4(BRCA1):c.5310dup (p.Pro1771fs)
|
rs80357581
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)
|
rs80357818
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+1G>C
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+1G>T
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5333-1G>T
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5350del (p.Val1784fs)
|
rs2051091746
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
|
rs786203663
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.5387C>G (p.Ser1796Ter)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.5390C>A (p.Ser1797Ter)
|
rs879255492
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)
|
rs80357934
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs)
|
rs1057518636
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter)
|
rs587782887
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5518del (p.Asp1840fs)
|
rs1555574414
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)
|
rs397509299
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.66_67insTC (p.Glu23fs)
|
rs1555600909
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter)
|
rs1555593310
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.697_698del (p.Val233fs)
|
rs80357747
|
|
NM_007294.4(BRCA1):c.697del (p.Asp232_Val233insTer)
|
rs1555593298
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)
|
rs886037979
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-1G>C
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2A>G
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-2del
|
rs273902791
|
|
NM_007294.4(BRCA1):c.81-5_81-1delinsACCTTGA
|
rs1555599292
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.832dup (p.Thr278fs)
|
rs886040325
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)
|
rs80357989
|
|
NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter)
|
rs273902792
|
|
NM_007294.4(BRCA1):c.876_879del (p.Thr293fs)
|
rs1555592938
|
|
NM_007294.4(BRCA1):c.882del (p.Asp295fs)
|
rs80357587
|
|
NM_007294.4(BRCA1):c.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.904del (p.Ala302fs)
|
rs273903793
|
|
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter)
|
rs2154485546
|
|
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer)
|
rs397509335
|
|
NM_007294.4(BRCA1):c.922dup (p.Ser308fs)
|
|
|
NM_007294.4(BRCA1):c.923del (p.Ser308fs)
|
rs80357953
|
|
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter)
|
rs397509338
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
NM_007294.4(BRCA1):c.983_990dup (p.Arg331fs)
|
rs2054011546
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.4(PALB2):c.1000_1013del (p.Tyr334fs)
|
rs1967001584
|
|
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_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
rs1060499812
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
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.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1103del (p.Asn368fs)
|
rs1555461451
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
NM_024675.4(PALB2):c.1179del (p.Lys393fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1190_1191del (p.Thr397fs)
|
rs1555461408
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1276dup (p.Glu426fs)
|
rs1555461363
|
|
NM_024675.4(PALB2):c.1286_1289del (p.Ile429fs)
|
|
|
NM_024675.4(PALB2):c.1291_1292del (p.His432fs)
|
rs786203057
|
|
NM_024675.4(PALB2):c.12dup (p.Pro5fs)
|
rs879254062
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1352T>A (p.Leu451Ter)
|
rs1966974831
|
|
NM_024675.4(PALB2):c.1369del (p.Glu457fs)
|
rs2142418150
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter)
|
rs1057520736
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
rs1567220802
|
|
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.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs)
|
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1613_1619del (p.Ile538fs)
|
rs1966952995
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
rs1966865838
|
|
NM_024675.4(PALB2):c.1803del (p.Lys601fs)
|
rs1966865768
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
rs1966865214
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
NM_024675.4(PALB2):c.1914del (p.Phe638fs)
|
rs1555460593
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1939_1940insT (p.His647fs)
|
rs1966863209
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter)
|
rs1966861886
|
|
NM_024675.4(PALB2):c.2032del (p.Leu678fs)
|
rs730881866
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2223_2224delinsG
|
rs1567217830
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.2265C>A (p.Cys755Ter)
|
rs1966858159
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.232_233del (p.Val78fs)
|
rs776284609
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2458_2459insTTTGATAGGCTGATTTTAAAG (p.Glu820delinsValTer)
|
|
|
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.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2517_2518del (p.Glu840fs)
|
rs1597088245
|
|
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2607dup (p.Val870fs)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
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.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
rs1060502726
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
NM_024675.4(PALB2):c.2816_2823del (p.Asn938_Leu939insTer)
|
rs1567214312
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.293dup (p.Thr99fs)
|
rs1967057228
|
|
NM_024675.4(PALB2):c.2950del (p.Leu984fs)
|
rs1966800194
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
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.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3085_3092del (p.Thr1029fs)
|
rs1567212825
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
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.3170_3175delinsAATCA (p.Ala1057fs)
|
rs1597073266
|
|
NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
|
NM_024675.4(PALB2):c.3228del (p.Cys1078fs)
|
rs1555458223
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
NM_024675.4(PALB2):c.3249_3253delinsAGCC
|
rs1567206909
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
NM_024675.4(PALB2):c.3295_3310delinsCGTGGT (p.Thr1099fs)
|
rs1966506715
|
|
NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs)
|
rs1567206804
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
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.3392del (p.Ile1131fs)
|
rs1966404530
|
|
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)
|
rs1597062296
|
|
NM_024675.4(PALB2):c.33_36dup (p.Glu13Ter)
|
rs1967232172
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
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.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.355del (p.Gln119fs)
|
rs1060502760
|
|
NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)
|
rs373287455
|
|
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)
|
rs1567222943
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
NM_024675.4(PALB2):c.420del (p.Lys140fs)
|
rs2142443848
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
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>G (p.Leu17Ter)
|
rs1567224232
|
|
NM_024675.4(PALB2):c.50dup (p.Leu17fs)
|
rs1967113249
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
NM_024675.4(PALB2):c.527_531del (p.Leu176fs)
|
rs1597098971
|
|
NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
|
|
NM_024675.4(PALB2):c.546del (p.Ser183fs)
|
rs1555461733
|
|
NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
|
|
NM_024675.4(PALB2):c.57_58del (p.Lys20fs)
|
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
NM_024675.4(PALB2):c.655_656del (p.Asp219fs)
|
rs1567222580
|
|
NM_024675.4(PALB2):c.658del (p.Ser220fs)
|
rs876659328
|
|
NM_024675.4(PALB2):c.667del (p.Ile223fs)
|
rs1555461684
|
|
NM_024675.4(PALB2):c.682del (p.Gln228fs)
|
rs1567222523
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
NM_024675.4(PALB2):c.707dup (p.Leu237fs)
|
rs876658192
|
|
NM_024675.4(PALB2):c.71_73delinsGG (p.Leu24fs)
|
rs1967112121
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
rs1248579792
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.896_897del (p.Ser299fs)
|
rs1967011347
|
|
NM_024675.4(PALB2):c.912del (p.Leu304_Val305insTer)
|
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
NM_024675.4(PALB2):c.934del (p.Ser312fs)
|
rs1967007854
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)
|
rs1555618375
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
|
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1348G>T (p.Glu450Ter)
|
rs2077857156
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1461del (p.Ile489fs)
|
rs1555605866
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.1890del (p.Phe631fs)
|
rs1555602154
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1940G>A (p.Trp647Ter)
|
rs1555601203
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
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.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2116_2117del (p.Glu706fs)
|
rs2077034404
|
|
NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter)
|
rs1567781516
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
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.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
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.2448G>A (p.Trp816Ter)
|
rs1064795352
|
|
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter)
|
rs2061854079
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2504del (p.His835fs)
|
rs2061478980
|
|
NM_032043.3(BRIP1):c.2519dup (p.Ala841fs)
|
rs1555574796
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.576dup (p.Val193fs)
|
rs2078747114
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.763C>T (p.Gln255Ter)
|
rs1603346830
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.807dup (p.Gly270fs)
|
rs1555609214
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.924del (p.Lys308fs)
|
rs2077993866
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.984_985insA (p.Gln329fs)
|
rs1555607759
|
|
NM_058195.4(CDKN2A):c.194-3653G>T
|
rs1800586
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs)
|
rs2047940629
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
NM_058216.3(RAD51C):c.225T>A (p.Tyr75Ter)
|
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.314C>G (p.Ser105Ter)
|
rs1567786326
|
|
NM_058216.3(RAD51C):c.364_365del (p.Glu122fs)
|
rs2047956880
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)
|
rs2048021234
|
|
NM_058216.3(RAD51C):c.432dup (p.Pro145fs)
|
rs1555594590
|
|
NM_058216.3(RAD51C):c.444del (p.Phe148fs)
|
rs1555594617
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)
|
rs587782699
|
|
NM_058216.3(RAD51C):c.529_539delinsG (p.Ile177fs)
|
|
|
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs)
|
rs1555594912
|
|
NM_058216.3(RAD51C):c.625_628del (p.Tyr209fs)
|
rs1555597132
|
|
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)
|
rs786201909
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)
|
rs1567799818
|
|
NM_058216.3(RAD51C):c.821del (p.Asn274fs)
|
rs1466185247
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)
|
rs1598504016
|
|
NM_058216.3(RAD51C):c.88dup (p.Ala30fs)
|
rs2047811523
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
NM_058216.3(RAD51C):c.917del (p.Gly306fs)
|
rs2143961536
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|