NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_005732.4(RAD50):c.687del (p.Ser229fs)
|
rs760146707
|
0.00042
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
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_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)
|
rs80359112
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000051.4(ATM):c.1236-2A>T
|
rs80159221
|
0.00008
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter)
|
rs200156887
|
0.00007
|
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
|
rs137852761
|
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_005732.4(RAD50):c.2498_2499del (p.Gln833fs)
|
rs587782895
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000314.8(PTEN):c.802-2A>T
|
rs587782455
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
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_002439.5(MSH3):c.574C>T (p.Gln192Ter)
|
rs374133543
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)
|
rs984874083
|
0.00004
|
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)
|
rs587781384
|
0.00004
|
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter)
|
rs778555849
|
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_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)
|
rs730881333
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000059.4(BRCA2):c.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_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)
|
rs1364256214
|
0.00003
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_002439.5(MSH3):c.2803del (p.Ile935fs)
|
rs766672143
|
0.00003
|
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)
|
rs371328106
|
0.00003
|
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)
|
rs919177150
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter)
|
rs151110146
|
0.00003
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter)
|
rs786203485
|
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_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
NM_015450.3(POT1):c.1071dup (p.Gln358fs)
|
rs750470470
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
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.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
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_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
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_002439.5(MSH3):c.2695_2696del (p.Met899fs)
|
rs1204002507
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002528.7(NTHL1):c.115+1G>A
|
rs749908882
|
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_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
|
rs104894194
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_005591.4(MRE11):c.659+1G>A
|
rs759130031
|
0.00002
|
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter)
|
rs142947311
|
0.00002
|
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)
|
rs772468452
|
0.00002
|
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)
|
rs368980595
|
0.00002
|
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter)
|
rs761837416
|
0.00002
|
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter)
|
rs876658770
|
0.00002
|
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter)
|
rs766315644
|
0.00002
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_015450.3(POT1):c.1164-1G>A
|
rs866612394
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
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_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
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_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
NM_000038.6(APC):c.1333C>T (p.Gln445Ter)
|
rs876658802
|
0.00001
|
NM_000038.6(APC):c.2795C>A (p.Ser932Ter)
|
rs878853432
|
0.00001
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)
|
rs754122018
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)
|
rs786202195
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.4909+1G>A
|
rs756987454
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6839del (p.Gln2280fs)
|
rs1407907917
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.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.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
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_000057.4(BLM):c.1054G>T (p.Glu352Ter)
|
rs369583279
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)
|
rs1472603091
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)
|
rs367543021
|
0.00001
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
rs80358464
|
0.00001
|
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)
|
rs397507279
|
0.00001
|
NM_000059.4(BRCA2):c.2092del (p.Leu698fs)
|
rs80359322
|
0.00001
|
NM_000059.4(BRCA2):c.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.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer)
|
rs730881620
|
0.00001
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
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.4689G>A (p.Trp1563Ter)
|
rs886038108
|
0.00001
|
NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)
|
rs786204209
|
0.00001
|
NM_000059.4(BRCA2):c.4877dup (p.Asn1626fs)
|
rs80359470
|
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.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)
|
rs754611265
|
0.00001
|
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)
|
rs200078639
|
0.00001
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
rs80358943
|
0.00001
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)
|
rs80358998
|
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.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
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_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala)
|
rs746834149
|
0.00001
|
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)
|
rs104894095
|
0.00001
|
NM_000077.5(CDKN2A):c.458-105A>G
|
rs1060501266
|
0.00001
|
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)
|
rs104894097
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000143.4(FH):c.697C>T (p.Arg233Cys)
|
rs587781682
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
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.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)
|
rs147542208
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000251.3(MSH2):c.2459-6_2459-2del
|
rs1114167841
|
0.00001
|
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter)
|
rs786204928
|
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_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NM_000455.5(STK11):c.290+1G>A
|
rs1131690950
|
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.1315-2A>G
|
rs1316885634
|
0.00001
|
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)
|
rs761702998
|
0.00001
|
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter)
|
rs1213894295
|
0.00001
|
NM_000465.4(BARD1):c.1512dup (p.Gly505fs)
|
rs1553619249
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000465.4(BARD1):c.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.1411C>T (p.Gln471Ter)
|
rs63751228
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)
|
rs878854037
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
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.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
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.376-1G>A
|
rs868137297
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
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.488A>G (p.Tyr163Cys)
|
rs148924904
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)
|
rs1057519999
|
0.00001
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.783-1G>A
|
rs1555525367
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.840A>T (p.Arg280Ser)
|
rs1567547687
|
0.00001
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)
|
rs112431538
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)
|
rs370124822
|
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.2T>C (p.Met1Thr)
|
rs201163858
|
0.00001
|
NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter)
|
rs1306473047
|
0.00001
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
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.606G>A (p.Gln202=)
|
rs199989617
|
0.00001
|
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)
|
rs147487160
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
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_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_002382.5(MAX):c.223C>T (p.Arg75Ter)
|
rs387906650
|
0.00001
|
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)
|
rs139170496
|
0.00001
|
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter)
|
rs539295465
|
0.00001
|
NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter)
|
rs1398195482
|
0.00001
|
NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)
|
rs758191157
|
0.00001
|
NM_002439.5(MSH3):c.1992del (p.Gln664fs)
|
rs1328242717
|
0.00001
|
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)
|
rs376667075
|
0.00001
|
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter)
|
rs770330684
|
0.00001
|
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)
|
rs1580035037
|
0.00001
|
NM_002439.5(MSH3):c.237+2T>C
|
rs1480047980
|
0.00001
|
NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter)
|
rs1561486630
|
0.00001
|
NM_002439.5(MSH3):c.2845C>T (p.Gln949Ter)
|
rs758546167
|
0.00001
|
NM_002439.5(MSH3):c.721C>T (p.Gln241Ter)
|
rs1481996174
|
0.00001
|
NM_002439.5(MSH3):c.724C>T (p.Gln242Ter)
|
rs772046189
|
0.00001
|
NM_002439.5(MSH3):c.802C>T (p.Arg268Ter)
|
rs201033017
|
0.00001
|
NM_002439.5(MSH3):c.978_984del (p.Phe326fs)
|
rs1475633334
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)
|
rs1394437421
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.171+3A>G
|
rs1487002693
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)
|
rs2084372140
|
0.00001
|
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)
|
rs374489979
|
0.00001
|
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)
|
rs1198246754
|
0.00001
|
NM_002528.7(NTHL1):c.685+1G>A
|
rs372946560
|
0.00001
|
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter)
|
rs773906955
|
0.00001
|
NM_002878.4(RAD51D):c.461_462insTT (p.Gln155fs)
|
rs1555568296
|
0.00001
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)
|
rs750219200
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)
|
rs1060501387
|
0.00001
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)
|
rs104894307
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003977.4(AIP):c.218G>A (p.Trp73Ter)
|
rs1591042753
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
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_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
NM_004656.4(BAP1):c.438-2A>G
|
rs587776879
|
0.00001
|
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter)
|
rs372411821
|
0.00001
|
NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter)
|
rs1376550081
|
0.00001
|
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)
|
rs780001540
|
0.00001
|
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter)
|
rs1440482403
|
0.00001
|
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter)
|
rs951805101
|
0.00001
|
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter)
|
rs1215450873
|
0.00001
|
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)
|
rs137852759
|
0.00001
|
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)
|
rs1247689593
|
0.00001
|
NM_005732.4(RAD50):c.1201A>T (p.Arg401Ter)
|
rs199867309
|
0.00001
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
NM_005732.4(RAD50):c.1271_1272del (p.Leu424fs)
|
rs769047012
|
0.00001
|
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)
|
rs587781904
|
0.00001
|
NM_005732.4(RAD50):c.2033_2034dup (p.Cys680fs)
|
rs771855778
|
0.00001
|
NM_005732.4(RAD50):c.2083C>T (p.Gln695Ter)
|
rs777678214
|
0.00001
|
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs)
|
rs587781454
|
0.00001
|
NM_005732.4(RAD50):c.2263C>T (p.Gln755Ter)
|
rs765975825
|
0.00001
|
NM_005732.4(RAD50):c.2517dup (p.Asp840fs)
|
rs786201897
|
0.00001
|
NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter)
|
rs1554099320
|
0.00001
|
NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter)
|
rs397507177
|
0.00001
|
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs)
|
rs768522804
|
0.00001
|
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter)
|
rs1554099776
|
0.00001
|
NM_005732.4(RAD50):c.3372T>G (p.Tyr1124Ter)
|
rs775069541
|
0.00001
|
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)
|
rs745797941
|
0.00001
|
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)
|
rs750586158
|
0.00001
|
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter)
|
rs377429225
|
0.00001
|
NM_005732.4(RAD50):c.94dup (p.Thr32fs)
|
rs587781625
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)
|
rs80357472
|
0.00001
|
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)
|
rs80356880
|
0.00001
|
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)
|
rs397508838
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1623dup (p.Asn542fs)
|
rs397508891
|
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.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.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.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.4675G>A (p.Glu1559Lys)
|
rs80356988
|
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.5054C>T (p.Thr1685Ile)
|
rs80357043
|
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.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
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.5467+2T>C
|
rs80358009
|
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_016169.4(SUFU):c.436C>T (p.Arg146Ter)
|
rs1060501109
|
0.00001
|
NM_017849.4(TMEM127):c.3G>A (p.Met1Ile)
|
rs121908814
|
0.00001
|
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)
|
rs780133289
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
rs587782446
|
0.00001
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
rs752592662
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
0.00001
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
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.692C>G (p.Ser231Ter)
|
rs1060502588
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
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_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
NM_144997.7(FLCN):c.490del (p.Arg164fs)
|
rs1414696397
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NM_177438.3(DICER1):c.2062C>T (p.Arg688Ter)
|
rs886037684
|
0.00001
|
NM_177438.3(DICER1):c.4517G>A (p.Trp1506Ter)
|
rs886037716
|
0.00001
|
NC_000002.12:g.47410094dup
|
|
|
NC_000002.12:g.47463031del
|
|
|
NC_000002.12:g.47480696del
|
|
|
NC_000005.10:g.80761547del
|
|
|
NC_000005.10:g.80854130del
|
|
|
NC_000017.11:g.58696695_58696708del
|
|
|
NC_000017.11:g.68523725del
|
|
|
NM_000038.5(APC):c.1412dupG
|
rs1580564136
|
|
NM_000038.5(APC):c.730_731delAG
|
rs387906228
|
|
NM_000038.6(APC):c.1045C>T (p.Gln349Ter)
|
rs863225307
|
|
NM_000038.6(APC):c.104del (p.Thr35fs)
|
rs1114167593
|
|
NM_000038.6(APC):c.1078_1079del (p.Leu360fs)
|
|
|
NM_000038.6(APC):c.1095del (p.Asp366fs)
|
|
|
NM_000038.6(APC):c.1100_1101del (p.Ser367fs)
|
rs387906237
|
|
NM_000038.6(APC):c.1101del (p.Val368fs)
|
rs587782744
|
|
NM_000038.6(APC):c.1102_1103del (p.Val368fs)
|
rs1554080016
|
|
NM_000038.6(APC):c.1109del (p.Leu370fs)
|
rs2149781278
|
|
NM_000038.6(APC):c.1124del (p.Gly375fs)
|
rs876658538
|
|
NM_000038.6(APC):c.1141del (p.Ala381fs)
|
rs1554080036
|
|
NM_000038.6(APC):c.1178C>G (p.Ser393Ter)
|
rs1114167545
|
|
NM_000038.6(APC):c.1180C>T (p.Gln394Ter)
|
rs770507436
|
|
NM_000038.6(APC):c.1192_1193del (p.Lys398fs)
|
rs387906238
|
|
NM_000038.6(APC):c.1219del (p.Leu407fs)
|
rs1114167558
|
|
NM_000038.6(APC):c.1229del (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.1229dup (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.1234C>T (p.Gln412Ter)
|
rs876660802
|
|
NM_000038.6(APC):c.1239dup (p.Arg414fs)
|
rs879254088
|
|
NM_000038.6(APC):c.1246_1249del (p.Tyr416fs)
|
rs1554080089
|
|
NM_000038.6(APC):c.1248C>A (p.Tyr416Ter)
|
|
|
NM_000038.6(APC):c.1251T>A (p.Cys417Ter)
|
rs1114167607
|
|
NM_000038.6(APC):c.1255del (p.Thr419fs)
|
rs2149783277
|
|
NM_000038.6(APC):c.1256delinsTCA (p.Thr419fs)
|
|
|
NM_000038.6(APC):c.1262G>A (p.Trp421Ter)
|
rs559510809
|
|
NM_000038.6(APC):c.1268G>A (p.Trp423Ter)
|
rs1762865724
|
|
NM_000038.6(APC):c.1283_1293del (p.Glu428fs)
|
rs1580531483
|
|
NM_000038.6(APC):c.1286del (p.Pro429fs)
|
rs1580531584
|
|
NM_000038.6(APC):c.1297C>T (p.Gln433Ter)
|
rs863225309
|
|
NM_000038.6(APC):c.1307del (p.Asn436fs)
|
rs1554080162
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
NM_000038.6(APC):c.1312+2T>C
|
rs1114167579
|
|
NM_000038.6(APC):c.1312+3A>C
|
rs863225311
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1312+5G>A
|
rs886039507
|
|
NM_000038.6(APC):c.1312+5G>C
|
rs886039507
|
|
NM_000038.6(APC):c.1341T>A (p.Cys447Ter)
|
rs1561545947
|
|
NM_000038.6(APC):c.1346del (p.Ala449fs)
|
rs1580542168
|
|
NM_000038.6(APC):c.1352_1358del (p.Val450_Cys451insTer)
|
|
|
NM_000038.6(APC):c.1354_1355del (p.Val452fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1358del (p.Leu453fs)
|
rs1554080702
|
|
NM_000038.6(APC):c.1368_1369del (p.Ser457fs)
|
|
|
NM_000038.6(APC):c.1369dup (p.Ser457fs)
|
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1370C>G (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1409-1G>A
|
rs863225313
|
|
NM_000038.6(APC):c.1409-1G>T
|
rs863225313
|
|
NM_000038.6(APC):c.1409-2A>C
|
rs1064794163
|
|
NM_000038.6(APC):c.1409-2A>G
|
rs1064794163
|
|
NM_000038.6(APC):c.1409-2_1409del
|
rs1554081631
|
|
NM_000038.6(APC):c.1417C>T (p.Gln473Ter)
|
rs876658868
|
|
NM_000038.6(APC):c.1427del (p.Ala476fs)
|
|
|
NM_000038.6(APC):c.1431del (p.Glu477fs)
|
rs1554081640
|
|
NM_000038.6(APC):c.1433del (p.Leu478fs)
|
rs1240024893
|
|
NM_000038.6(APC):c.145A>T (p.Lys49Ter)
|
rs1581160030
|
|
NM_000038.6(APC):c.1464_1467del (p.Thr489fs)
|
rs1114167602
|
|
NM_000038.6(APC):c.1469_1470dup (p.Asp491fs)
|
rs2149809361
|
|
NM_000038.6(APC):c.1474_1487del (p.His492fs)
|
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
NM_000038.6(APC):c.1485dup (p.Thr496fs)
|
rs1131691137
|
|
NM_000038.6(APC):c.1486dup (p.Thr496fs)
|
|
|
NM_000038.6(APC):c.148_149insTT (p.Gln50fs)
|
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1498dup (p.Tyr500fs)
|
|
|
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter)
|
rs387906230
|
|
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter)
|
rs387906230
|
|
NM_000038.6(APC):c.1500del (p.Arg499_Tyr500insTer)
|
rs2149809839
|
|
NM_000038.6(APC):c.1525_1527delinsGAGATGTAGCCTTTGAGATGTTGGC (p.Thr509delinsGluMetTer)
|
rs1580565841
|
|
NM_000038.6(APC):c.1529_1530del (p.Phe510fs)
|
rs1554081749
|
|
NM_000038.6(APC):c.1531G>T (p.Gly511Ter)
|
rs876658811
|
|
NM_000038.6(APC):c.1548+1G>C
|
rs1114167599
|
|
NM_000038.6(APC):c.1548+1G>T
|
rs1114167599
|
|
NM_000038.6(APC):c.1548+2T>C
|
rs1057517561
|
|
NM_000038.6(APC):c.1548G>A (p.Lys516=)
|
rs879254090
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.1549-1_1599dup
|
|
|
NM_000038.6(APC):c.1564dup (p.Met522fs)
|
rs1554081884
|
|
NM_000038.6(APC):c.156del (p.Gly53fs)
|
rs1581160123
|
|
NM_000038.6(APC):c.1579A>T (p.Arg527Ter)
|
|
|
NM_000038.6(APC):c.1606G>T (p.Glu536Ter)
|
rs138098808
|
|
NM_000038.6(APC):c.1613A>T (p.Glu538Val)
|
rs1561555761
|
|
NM_000038.6(APC):c.1617delinsTGT (p.Leu540fs)
|
rs1114167613
|
|
NM_000038.6(APC):c.1620dup (p.Gln541fs)
|
rs1131691555
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1624C>T (p.Gln542Ter)
|
rs1580569680
|
|
NM_000038.6(APC):c.1626+1G>A
|
rs1554081934
|
|
NM_000038.6(APC):c.1626+3A>G
|
rs1060503372
|
|
NM_000038.6(APC):c.1627-1G>A
|
rs1580573847
|
|
NM_000038.6(APC):c.1627-2A>T
|
|
|
NM_000038.6(APC):c.1627-3C>G
|
|
|
NM_000038.6(APC):c.163_164insG (p.Ile55fs)
|
rs1554069524
|
|
NM_000038.6(APC):c.1654_1658del (p.Ser552fs)
|
rs876659452
|
|
NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
NM_000038.6(APC):c.1658G>A (p.Trp553Ter)
|
rs863225318
|
|
NM_000038.6(APC):c.1659G>A (p.Trp553Ter)
|
rs398123116
|
|
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.1705del (p.Ser568_Val569insTer)
|
rs1554082135
|
|
NM_000038.6(APC):c.1738A>T (p.Lys580Ter)
|
|
|
NM_000038.6(APC):c.1743+1G>A
|
rs761458613
|
|
NM_000038.6(APC):c.1743+1G>C
|
|
|
NM_000038.6(APC):c.1744-1G>A
|
|
|
NM_000038.6(APC):c.1744-22C>G
|
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1744-3T>G
|
rs760166803
|
|
NM_000038.6(APC):c.1744-4C>G
|
rs772745309
|
|
NM_000038.6(APC):c.1759del (p.Ser587fs)
|
rs1554083100
|
|
NM_000038.6(APC):c.1775T>G (p.Leu592Ter)
|
rs1764700195
|
|
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)
|
rs1554083132
|
|
NM_000038.6(APC):c.1781_1782del (p.Asn594fs)
|
|
|
NM_000038.6(APC):c.1787C>G (p.Ser596Ter)
|
rs1554083134
|
|
NM_000038.6(APC):c.1835dup (p.Leu613fs)
|
|
|
NM_000038.6(APC):c.1861dup (p.Thr621fs)
|
rs1580604238
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1866C>G (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1873C>T (p.Gln625Ter)
|
rs876659517
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
NM_000038.6(APC):c.1879_1882del (p.Asn627fs)
|
rs1060503360
|
|
NM_000038.6(APC):c.1880dup (p.Asn627fs)
|
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.1886del (p.Thr628_Leu629insTer)
|
rs863224817
|
|
NM_000038.6(APC):c.1886dup (p.Leu629fs)
|
rs863224817
|
|
NM_000038.6(APC):c.1909G>A (p.Gly637Arg)
|
rs1554083227
|
|
NM_000038.6(APC):c.1946del (p.Asn649fs)
|
rs1580605254
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
NM_000038.6(APC):c.1957A>C (p.Arg653=)
|
rs1114167580
|
|
NM_000038.6(APC):c.1957A>G (p.Arg653Gly)
|
rs1114167580
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
NM_000038.6(APC):c.1958+1G>T
|
|
|
NM_000038.6(APC):c.1958+1_1958+2dup
|
rs1561569606
|
|
NM_000038.6(APC):c.1958+2T>A
|
|
|
NM_000038.6(APC):c.1958+3A>G
|
rs879254032
|
|
NM_000038.6(APC):c.1958+3A>T
|
rs879254032
|
|
NM_000038.6(APC):c.1958G>A (p.Arg653Lys)
|
rs1060503318
|
|
NM_000038.6(APC):c.1958G>T (p.Arg653Met)
|
rs1060503318
|
|
NM_000038.6(APC):c.1959-1G>A
|
rs863225321
|
|
NM_000038.6(APC):c.1968_1969del (p.Asn659fs)
|
rs1114167597
|
|
NM_000038.6(APC):c.1972_1975del (p.Glu658fs)
|
rs863225322
|
|
NM_000038.6(APC):c.1979del (p.Asn660fs)
|
rs1580617162
|
|
NM_000038.6(APC):c.1994T>G (p.Leu665Ter)
|
rs1765084859
|
|
NM_000038.6(APC):c.1997T>G (p.Leu666Ter)
|
|
|
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer)
|
rs863225323
|
|
NM_000038.6(APC):c.1999C>T (p.Gln667Ter)
|
rs876660130
|
|
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer)
|
rs587782303
|
|
NM_000038.6(APC):c.2010del (p.Lys670fs)
|
|
|
NM_000038.6(APC):c.2016_2017del (p.His672fs)
|
rs2149858813
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
NM_000038.6(APC):c.2036dup (p.Asn679fs)
|
rs1131691140
|
|
NM_000038.6(APC):c.203del (p.Leu68fs)
|
rs1756331894
|
|
NM_000038.6(APC):c.2062_2063del (p.Ala689fs)
|
|
|
NM_000038.6(APC):c.2068A>T (p.Arg690Ter)
|
|
|
NM_000038.6(APC):c.2089_2093delinsAATGCTGGTCCCATAATG (p.Ala697fs)
|
|
|
NM_000038.6(APC):c.2093T>G (p.Leu698Ter)
|
rs137854582
|
|
NM_000038.6(APC):c.2094_2095dup (p.Trp699fs)
|
|
|
NM_000038.6(APC):c.2096G>A (p.Trp699Ter)
|
rs1060503336
|
|
NM_000038.6(APC):c.2097G>A (p.Trp699Ter)
|
rs1060503282
|
|
NM_000038.6(APC):c.2100dup (p.Met701fs)
|
rs1561574860
|
|
NM_000038.6(APC):c.2116dup (p.Met706fs)
|
|
|
NM_000038.6(APC):c.2122_2123insTTCATTCATGCTCA (p.Lys708fs)
|
|
|
NM_000038.6(APC):c.2129del (p.Leu710fs)
|
rs1114167584
|
|
NM_000038.6(APC):c.2136_2139del (p.His712fs)
|
|
|
NM_000038.6(APC):c.2138C>G (p.Ser713Ter)
|
rs137854570
|
|
NM_000038.6(APC):c.2161G>T (p.Gly721Ter)
|
|
|
NM_000038.6(APC):c.2164_2165insTCAAGCAA (p.Ser722fs)
|
|
|
NM_000038.6(APC):c.2185_2336del (p.Leu729fs)
|
rs1554083990
|
|
NM_000038.6(APC):c.2186del (p.Leu729fs)
|
rs2149862736
|
|
NM_000038.6(APC):c.220+1G>A
|
rs1554069570
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
NM_000038.6(APC):c.221-1G>C
|
rs863225327
|
|
NM_000038.6(APC):c.221-2A>G
|
rs786201291
|
|
NM_000038.6(APC):c.2212A>T (p.Lys738Ter)
|
|
|
NM_000038.6(APC):c.2240C>A (p.Ser747Ter)
|
|
|
NM_000038.6(APC):c.2240C>G (p.Ser747Ter)
|
rs773020689
|
|
NM_000038.6(APC):c.2255_2256del (p.Leu752fs)
|
|
|
NM_000038.6(APC):c.2287G>T (p.Glu763Ter)
|
rs1580620163
|
|
NM_000038.6(APC):c.2291dup (p.Leu764fs)
|
rs2149865532
|
|
NM_000038.6(APC):c.2299C>T (p.Gln767Ter)
|
rs1561575998
|
|
NM_000038.6(APC):c.2303_2304insT (p.Ser770fs)
|
rs1580620326
|
|
NM_000038.6(APC):c.2304del (p.Leu769fs)
|
|
|
NM_000038.6(APC):c.2306_2307delinsC (p.Leu769fs)
|
rs1765151559
|
|
NM_000038.6(APC):c.2307_2308insAA (p.Ser770fs)
|
|
|
NM_000038.6(APC):c.2309C>G (p.Ser770Ter)
|
rs1060503310
|
|
NM_000038.6(APC):c.230T>A (p.Leu77Ter)
|
rs2149787552
|
|
NM_000038.6(APC):c.2311G>T (p.Glu771Ter)
|
|
|
NM_000038.6(APC):c.2336dup (p.Leu779fs)
|
rs1554084079
|
|
NM_000038.6(APC):c.233_236del (p.Asp78fs)
|
rs1064793020
|
|
NM_000038.6(APC):c.233_264dup (p.Ser89delinsIleAlaValIleSerLeuGluTer)
|
|
|
NM_000038.6(APC):c.2342_2343delinsT (p.Pro781fs)
|
|
|
NM_000038.6(APC):c.2365C>T (p.Gln789Ter)
|
rs398123117
|
|
NM_000038.6(APC):c.2373_2374del (p.His791fs)
|
|
|
NM_000038.6(APC):c.2380dup (p.Ser794fs)
|
rs1114167564
|
|
NM_000038.6(APC):c.2395del (p.Tyr799fs)
|
rs879254110
|
|
NM_000038.6(APC):c.2397T>A (p.Tyr799Ter)
|
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000038.6(APC):c.2426del (p.Asn809fs)
|
rs1114167573
|
|
NM_000038.6(APC):c.2448dup (p.Gly817fs)
|
|
|
NM_000038.6(APC):c.2468C>G (p.Ser823Ter)
|
|
|
NM_000038.6(APC):c.2477_2500delinsCA (p.Leu826fs)
|
|
|
NM_000038.6(APC):c.2483del (p.Thr828fs)
|
rs886042600
|
|
NM_000038.6(APC):c.2486_2487del (p.Thr829fs)
|
|
|
NM_000038.6(APC):c.2496_2502del (p.Ser833fs)
|
rs1114167576
|
|
NM_000038.6(APC):c.2507C>A (p.Ser836Ter)
|
rs1580623270
|
|
NM_000038.6(APC):c.2507_2510del (p.Ser835_Ser836insTer)
|
|
|
NM_000038.6(APC):c.2510C>G (p.Ser837Ter)
|
rs79512956
|
|
NM_000038.6(APC):c.2527_2530del (p.Ser843fs)
|
rs879254091
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.2555T>A (p.Leu852Ter)
|
rs1405022793
|
|
NM_000038.6(APC):c.2563_2564del (p.Glu855fs)
|
rs794727160
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
NM_000038.6(APC):c.2588dup (p.Tyr863Ter)
|
|
|
NM_000038.6(APC):c.258dup (p.Leu87fs)
|
rs1114167546
|
|
NM_000038.6(APC):c.2590_2597del (p.His864fs)
|
rs2149873128
|
|
NM_000038.6(APC):c.2612del (p.Gly871fs)
|
rs1554084299
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2635C>T (p.Gln879Ter)
|
rs1060503287
|
|
NM_000038.6(APC):c.2656C>T (p.Gln886Ter)
|
rs755806668
|
|
NM_000038.6(APC):c.2667del (p.Val890fs)
|
rs1580625495
|
|
NM_000038.6(APC):c.266C>A (p.Ser89Ter)
|
rs876658846
|
|
NM_000038.6(APC):c.266C>G (p.Ser89Ter)
|
rs876658846
|
|
NM_000038.6(APC):c.2680_2686dup (p.Ala896fs)
|
rs587781910
|
|
NM_000038.6(APC):c.2681_2683delinsGTATG (p.Val894fs)
|
rs1580625739
|
|
NM_000038.6(APC):c.268A>T (p.Lys90Ter)
|
|
|
NM_000038.6(APC):c.2701C>T (p.Gln901Ter)
|
rs1114167559
|
|
NM_000038.6(APC):c.2711_2712del (p.Arg904fs)
|
rs1554084403
|
|
NM_000038.6(APC):c.2761dup (p.Ala921fs)
|
|
|
NM_000038.6(APC):c.2777_2778dup (p.Ala927fs)
|
|
|
NM_000038.6(APC):c.277del (p.Leu93fs)
|
rs1580328099
|
|
NM_000038.6(APC):c.2790_2791delinsGTGT (p.His931fs)
|
rs1554084454
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer)
|
rs398123120
|
|
NM_000038.6(APC):c.2807del (p.Asn936fs)
|
|
|
NM_000038.6(APC):c.2815_2816del (p.Lys939fs)
|
rs1580627539
|
|
NM_000038.6(APC):c.2828C>G (p.Ser943Ter)
|
rs1554084512
|
|
NM_000038.6(APC):c.2843del (p.Ser948fs)
|
|
|
NM_000038.6(APC):c.2861T>G (p.Leu954Ter)
|
|
|
NM_000038.6(APC):c.2863del (p.Glu955fs)
|
rs1554084553
|
|
NM_000038.6(APC):c.2865dup (p.Tyr956fs)
|
|
|
NM_000038.6(APC):c.2879C>A (p.Ser960Ter)
|
|
|
NM_000038.6(APC):c.2879_2883del (p.Ser959_Ser960insTer)
|
rs876660496
|
|
NM_000038.6(APC):c.287dup (p.Tyr96Ter)
|
|
|
NM_000038.6(APC):c.2888_2892del (p.Ser963fs)
|
|
|
NM_000038.6(APC):c.288T>A (p.Tyr96Ter)
|
rs376213437
|
|
NM_000038.6(APC):c.288T>G (p.Tyr96Ter)
|
rs376213437
|
|
NM_000038.6(APC):c.2893_2896del (p.Asn965fs)
|
rs2149879574
|
|
NM_000038.6(APC):c.2905_2906insC (p.Ser969fs)
|
rs1131691139
|
|
NM_000038.6(APC):c.290del (p.Gly97fs)
|
|
|
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
|
rs2149880355
|
|
NM_000038.6(APC):c.2932C>T (p.Gln978Ter)
|
|
|
NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs)
|
|
|
NM_000038.6(APC):c.2971G>T (p.Glu991Ter)
|
rs786202995
|
|
NM_000038.6(APC):c.2976dup (p.Lys993Ter)
|
|
|
NM_000038.6(APC):c.2991_2996del (p.Tyr997_Gln999delinsTer)
|
rs1114167562
|
|
NM_000038.6(APC):c.3000C>A (p.Tyr1000Ter)
|
rs1580629755
|
|
NM_000038.6(APC):c.3002del (p.Pro1001fs)
|
rs1114167586
|
|
NM_000038.6(APC):c.3019A>T (p.Lys1007Ter)
|
|
|
NM_000038.6(APC):c.301G>T (p.Gly101Ter)
|
rs863225335
|
|
NM_000038.6(APC):c.3058G>T (p.Glu1020Ter)
|
rs1580630407
|
|
NM_000038.6(APC):c.3060_3062delinsTAATTGG (p.Glu1020fs)
|
rs1580630481
|
|
NM_000038.6(APC):c.3060del (p.Glu1020fs)
|
rs1580630436
|
|
NM_000038.6(APC):c.3067dup (p.Thr1023fs)
|
rs876658724
|
|
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn)
|
rs1114167617
|
|
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)
|
rs876660265
|
|
NM_000038.6(APC):c.308_309insCT (p.Ser104fs)
|
|
|
NM_000038.6(APC):c.308dup (p.Ser104fs)
|
|
|
NM_000038.6(APC):c.3103C>T (p.Gln1035Ter)
|
rs2149884384
|
|
NM_000038.6(APC):c.311C>G (p.Ser104Ter)
|
rs74953290
|
|
NM_000038.6(APC):c.3121C>T (p.Gln1041Ter)
|
rs1580631181
|
|
NM_000038.6(APC):c.3139del (p.Glu1047fs)
|
|
|
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter)
|
rs876658667
|
|
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter)
|
rs863225340
|
|
NM_000038.6(APC):c.314del (p.Ser105fs)
|
|
|
NM_000038.6(APC):c.3162_3163del (p.Ile1055fs)
|
|
|
NM_000038.6(APC):c.3163del (p.His1054_Ile1055insTer)
|
|
|
NM_000038.6(APC):c.3164_3168del (p.Ile1055fs)
|
rs1554084772
|
|
NM_000038.6(APC):c.3175_3179del (p.Glu1059fs)
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3183dup (p.Gln1062fs)
|
rs1114167582
|
|
NM_000038.6(APC):c.3184C>T (p.Gln1062Ter)
|
rs1554084818
|
|
NM_000038.6(APC):c.3184_3187del (p.Gln1062fs)
|
rs1114167551
|
|
NM_000038.6(APC):c.3184_3200dup (p.Gln1067fs)
|
|
|
NM_000038.6(APC):c.3186_3187del (p.Gln1062_Ser1063insTer)
|
rs1060503362
|
|
NM_000038.6(APC):c.3197dup (p.Gln1067fs)
|
|
|
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)
|
rs137854571
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.3203C>A (p.Ser1068Ter)
|
rs1554084848
|
|
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter)
|
rs876659539
|
|
NM_000038.6(APC):c.3241_3242del (p.Ser1081fs)
|
rs1060503327
|
|
NM_000038.6(APC):c.3258_3259del (p.Leu1087fs)
|
|
|
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs)
|
rs587782305
|
|
NM_000038.6(APC):c.3264del (p.Lys1088fs)
|
rs1554084885
|
|
NM_000038.6(APC):c.3268C>T (p.Gln1090Ter)
|
rs1580633219
|
|
NM_000038.6(APC):c.3283C>T (p.Gln1095Ter)
|
rs2149888710
|
|
NM_000038.6(APC):c.3283del (p.Gln1095fs)
|
|
|
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter)
|
rs587783029
|
|
NM_000038.6(APC):c.3300dup (p.Pro1101fs)
|
rs1114167609
|
|
NM_000038.6(APC):c.3304del (p.Tyr1102fs)
|
|
|
NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter)
|
rs879254092
|
|
NM_000038.6(APC):c.3326del (p.Gly1109fs)
|
|
|
NM_000038.6(APC):c.332del (p.Ser111fs)
|
|
|
NM_000038.6(APC):c.3336_3340del (p.Asn1113fs)
|
rs1580634177
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3347del (p.Gly1116fs)
|
rs1114167554
|
|
NM_000038.6(APC):c.3367C>T (p.Gln1123Ter)
|
rs1580634617
|
|
NM_000038.6(APC):c.3379C>T (p.Gln1127Ter)
|
rs1765409926
|
|
NM_000038.6(APC):c.3385_3386del (p.Leu1129fs)
|
rs1114167616
|
|
NM_000038.6(APC):c.3385_3386insA (p.Leu1129fs)
|
|
|
NM_000038.6(APC):c.3386T>A (p.Leu1129Ter)
|
|
|
NM_000038.6(APC):c.3386del (p.Leu1129fs)
|
rs1114167616
|
|
NM_000038.6(APC):c.3391C>T (p.Gln1131Ter)
|
rs878853438
|
|
NM_000038.6(APC):c.341del (p.Pro114fs)
|
rs1064793021
|
|
NM_000038.6(APC):c.3440dup (p.Tyr1147Ter)
|
|
|
NM_000038.6(APC):c.3441C>A (p.Tyr1147Ter)
|
|
|
NM_000038.6(APC):c.3453del (p.Glu1151fs)
|
|
|
NM_000038.6(APC):c.3455del (p.Gln1152fs)
|
|
|
NM_000038.6(APC):c.3458_3459dup (p.Glu1154fs)
|
|
|
NM_000038.6(APC):c.3460G>T (p.Glu1154Ter)
|
|
|
NM_000038.6(APC):c.3463_3467del (p.Glu1155fs)
|
rs1114167589
|
|
NM_000038.6(APC):c.3464_3468del (p.Glu1155fs)
|
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
NM_000038.6(APC):c.3468_3472del (p.Glu1157fs)
|
|
|
NM_000038.6(APC):c.3470dup (p.Arg1158fs)
|
rs2149892641
|
|
NM_000038.6(APC):c.3471_3474del (p.Glu1157fs)
|
rs786203020
|
|
NM_000038.6(APC):c.3473_3474del (p.Arg1158fs)
|
rs786203020
|
|
NM_000038.6(APC):c.3473_3474dup (p.Pro1159fs)
|
rs786203020
|
|
NM_000038.6(APC):c.3486_3487del (p.Tyr1162_Ser1163delinsTer)
|
rs786202348
|
|
NM_000038.6(APC):c.3493A>T (p.Lys1165Ter)
|
|
|
NM_000038.6(APC):c.3505_3509del (p.Glu1169fs)
|
rs2149893274
|
|
NM_000038.6(APC):c.350C>A (p.Ser117Ter)
|
rs1064793535
|
|
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter)
|
rs1554085081
|
|
NM_000038.6(APC):c.3527del (p.Pro1176fs)
|
rs1554085084
|
|
NM_000038.6(APC):c.3532_3535del (p.Asp1178fs)
|
|
|
NM_000038.6(APC):c.3566C>A (p.Ser1189Ter)
|
|
|
NM_000038.6(APC):c.3571C>T (p.Gln1191Ter)
|
rs1114167547
|
|
NM_000038.6(APC):c.3577C>T (p.Gln1193Ter)
|
rs1554085128
|
|
NM_000038.6(APC):c.3577_3578del (p.Gln1193fs)
|
rs1060503326
|
|
NM_000038.6(APC):c.3581C>A (p.Ser1194Ter)
|
rs2149894857
|
|
NM_000038.6(APC):c.3586dup (p.Ser1196fs)
|
|
|
NM_000038.6(APC):c.3595_3596del (p.Lys1199fs)
|
rs864622106
|
|
NM_000038.6(APC):c.3596dup (p.Ser1200fs)
|
rs864622106
|
|
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter)
|
rs730881247
|
|
NM_000038.6(APC):c.3602C>G (p.Ser1201Ter)
|
rs730881247
|
|
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter)
|
rs1057518472
|
|
NM_000038.6(APC):c.3625G>T (p.Glu1209Ter)
|
|
|
NM_000038.6(APC):c.3631_3632del (p.Met1211fs)
|
rs1554085190
|
|
NM_000038.6(APC):c.3642del (p.Ser1214fs)
|
rs2149896180
|
|
NM_000038.6(APC):c.3665C>A (p.Ser1222Ter)
|
rs1114167614
|
|
NM_000038.6(APC):c.3665dup (p.Ser1223fs)
|
|
|
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs)
|
rs1561586671
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter)
|
rs863225344
|
|
NM_000038.6(APC):c.3698del (p.Pro1233fs)
|
|
|
NM_000038.6(APC):c.3717_3726del (p.Arg1239fs)
|
|
|
NM_000038.6(APC):c.3720_3726del (p.Gly1241fs)
|
|
|
NM_000038.6(APC):c.3724_3725insTCTACTTCTCAAAAGGCTCAAA (p.Gln1242fs)
|
|
|
NM_000038.6(APC):c.3730C>T (p.Gln1244Ter)
|
rs79122263
|
|
NM_000038.6(APC):c.3734del (p.Lys1245fs)
|
rs1114167595
|
|
NM_000038.6(APC):c.3734dup (p.Ala1246fs)
|
rs1114167595
|
|
NM_000038.6(APC):c.3746dup (p.Cys1249fs)
|
|
|
NM_000038.6(APC):c.3749_3750del (p.Lys1250fs)
|
rs1114167583
|
|
NM_000038.6(APC):c.3757del (p.Ser1253fs)
|
rs1114167571
|
|
NM_000038.6(APC):c.3768dup (p.Glu1257fs)
|
|
|
NM_000038.6(APC):c.3769G>T (p.Glu1257Ter)
|
rs1580639836
|
|
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)
|
rs863225345
|
|
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter)
|
rs147411334
|
|
NM_000038.6(APC):c.3805dup (p.Ile1269fs)
|
rs1580640350
|
|
NM_000038.6(APC):c.3807_3808del (p.Ile1269fs)
|
rs786203760
|
|
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)
|
rs863225347
|
|
NM_000038.6(APC):c.3814del (p.Ser1272fs)
|
rs587783033
|
|
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)
|
rs863225348
|
|
NM_000038.6(APC):c.3822T>A (p.Cys1274Ter)
|
|
|
NM_000038.6(APC):c.3827C>A (p.Ser1276Ter)
|
rs1060503299
|
|
NM_000038.6(APC):c.3827C>G (p.Ser1276Ter)
|
rs1060503299
|
|
NM_000038.6(APC):c.3856G>T (p.Glu1286Ter)
|
|
|
NM_000038.6(APC):c.3861dup (p.Gly1288fs)
|
rs1580640910
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.3878_3890del (p.Thr1293fs)
|
|
|
NM_000038.6(APC):c.3880C>T (p.Gln1294Ter)
|
rs1554085373
|
|
NM_000038.6(APC):c.3883_3886del (p.Glu1295fs)
|
|
|
NM_000038.6(APC):c.388del (p.Ser130fs)
|
rs1554069828
|
|
NM_000038.6(APC):c.3892del (p.Ser1298fs)
|
|
|
NM_000038.6(APC):c.3892dup (p.Ser1298fs)
|
rs1580641218
|
|
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter)
|
rs121913462
|
|
NM_000038.6(APC):c.3920_3921del (p.Ile1307fs)
|
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
NM_000038.6(APC):c.3921_3924del (p.Ile1307fs)
|
rs863224457
|
|
NM_000038.6(APC):c.3925G>T (p.Glu1309Ter)
|
rs1321583762
|
|
NM_000038.6(APC):c.3925_3926del (p.Glu1309fs)
|
|
|
NM_000038.6(APC):c.3925_3928del (p.Glu1309fs)
|
rs876659647
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3928A>T (p.Lys1310Ter)
|
rs2149902263
|
|
NM_000038.6(APC):c.3981dup (p.Gln1328fs)
|
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.398_399del (p.Tyr133fs)
|
|
|
NM_000038.6(APC):c.3994dup (p.Thr1332fs)
|
rs1114167544
|
|
NM_000038.6(APC):c.4025dup (p.Leu1342fs)
|
rs863225351
|
|
NM_000038.6(APC):c.4028_4029del (p.Ser1343fs)
|
rs1580643056
|
|
NM_000038.6(APC):c.4031C>G (p.Ser1344Ter)
|
rs1114167578
|
|
NM_000038.6(APC):c.4037C>A (p.Ser1346Ter)
|
|
|
NM_000038.6(APC):c.4037del (p.Glu1345_Ser1346insTer)
|
|
|
NM_000038.6(APC):c.4054_4063dup (p.Ser1355delinsCysTer)
|
rs1561589459
|
|
NM_000038.6(APC):c.4054del (p.Val1352fs)
|
rs1114167566
|
|
NM_000038.6(APC):c.4057G>T (p.Glu1353Ter)
|
rs1114167568
|
|
NM_000038.6(APC):c.4057del (p.Glu1353fs)
|
|
|
NM_000038.6(APC):c.4059_4071del (p.Phe1354fs)
|
|
|
NM_000038.6(APC):c.4067C>G (p.Ser1356Ter)
|
rs1554085480
|
|
NM_000038.6(APC):c.4090dup (p.Ser1364fs)
|
|
|
NM_000038.6(APC):c.4122del (p.Glu1374fs)
|
|
|
NM_000038.6(APC):c.4126dup (p.Tyr1376fs)
|
|
|
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs)
|
rs1554085533
|
|
NM_000038.6(APC):c.4128T>A (p.Tyr1376Ter)
|
|
|
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter)
|
rs121913329
|
|
NM_000038.6(APC):c.4135del (p.Glu1379fs)
|
|
|
NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs)
|
rs1554085560
|
|
NM_000038.6(APC):c.4142del (p.Pro1381fs)
|
rs1580644533
|
|
NM_000038.6(APC):c.415_416insC (p.Lys139fs)
|
|
|
NM_000038.6(APC):c.4167dup (p.Val1390fs)
|
rs1131691146
|
|
NM_000038.6(APC):c.4179dup (p.Asp1394Ter)
|
rs1580644987
|
|
NM_000038.6(APC):c.4203del (p.Ile1401fs)
|
|
|
NM_000038.6(APC):c.4216C>T (p.Gln1406Ter)
|
rs587782518
|
|
NM_000038.6(APC):c.421_422del (p.Arg141fs)
|
rs1554069850
|
|
NM_000038.6(APC):c.422+2T>G
|
rs879254169
|
|
NM_000038.6(APC):c.423-11A>G
|
rs1580358224
|
|
NM_000038.6(APC):c.423-1G>A
|
rs397514031
|
|
NM_000038.6(APC):c.423-1G>C
|
rs397514031
|
|
NM_000038.6(APC):c.423-2A>C
|
rs879254087
|
|
NM_000038.6(APC):c.423-2A>G
|
rs879254087
|
|
NM_000038.6(APC):c.423-2A>T
|
rs879254087
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.423-3_456del
|
rs1580358296
|
|
NM_000038.6(APC):c.4240del (p.Met1413_Val1414insTer)
|
rs1580645606
|
|
NM_000038.6(APC):c.4241dup (p.Ser1415fs)
|
rs1554085654
|
|
NM_000038.6(APC):c.425C>A (p.Ser142Ter)
|
|
|
NM_000038.6(APC):c.4260del (p.Ser1421fs)
|
rs1554085679
|
|
NM_000038.6(APC):c.4263del (p.Ser1421fs)
|
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4300del (p.Ser1434fs)
|
|
|
NM_000038.6(APC):c.4319del (p.Pro1440fs)
|
rs1131691145
|
|
NM_000038.6(APC):c.4333dup (p.Thr1445fs)
|
rs2149911981
|
|
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)
|
rs121913332
|
|
NM_000038.6(APC):c.4364_4368del (p.Asn1455fs)
|
|
|
NM_000038.6(APC):c.4375dup (p.Thr1459fs)
|
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4448del (p.Pro1483fs)
|
|
|
NM_000038.6(APC):c.4463del (p.Leu1488fs)
|
rs1114167577
|
|
NM_000038.6(APC):c.4463dup (p.Leu1488fs)
|
rs1114167577
|
|
NM_000038.6(APC):c.4474del (p.Ala1492fs)
|
rs1131691144
|
|
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)
|
rs756912930
|
|
NM_000038.6(APC):c.4508del (p.Ser1503fs)
|
rs1580649018
|
|
NM_000038.6(APC):c.450_453del (p.Glu151fs)
|
rs863225355
|
|
NM_000038.6(APC):c.4512_4513del (p.Ser1505fs)
|
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter)
|
rs1114167596
|
|
NM_000038.6(APC):c.4555_4556del (p.Asp1519fs)
|
|
|
NM_000038.6(APC):c.4568del (p.Arg1523fs)
|
|
|
NM_000038.6(APC):c.457A>T (p.Lys153Ter)
|
rs1561477861
|
|
NM_000038.6(APC):c.4604dup (p.Asn1535fs)
|
rs1580650175
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000038.6(APC):c.4621C>T (p.Gln1541Ter)
|
rs786201801
|
|
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter)
|
rs863225356
|
|
NM_000038.6(APC):c.4638_4642del (p.Asn1546fs)
|
rs1554086030
|
|
NM_000038.6(APC):c.4643_4645delinsT (p.Asn1548fs)
|
rs1114167601
|
|
NM_000038.6(APC):c.4652_4655del (p.Lys1551fs)
|
rs863225358
|
|
NM_000038.6(APC):c.465del (p.Asp156fs)
|
rs1554071529
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer)
|
rs786201118
|
|
NM_000038.6(APC):c.4682del (p.Lys1561fs)
|
rs1114167552
|
|
NM_000038.6(APC):c.4682dup (p.Asp1562fs)
|
rs1114167552
|
|
NM_000038.6(APC):c.4700C>G (p.Ser1567Ter)
|
rs1765745643
|
|
NM_000038.6(APC):c.4706_4707del (p.Asp1569fs)
|
rs876660454
|
|
NM_000038.6(APC):c.471G>A (p.Trp157Ter)
|
rs1060503328
|
|
NM_000038.6(APC):c.4726G>T (p.Glu1576Ter)
|
rs1554086134
|
|
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs)
|
rs863225359
|
|
NM_000038.6(APC):c.4737del (p.Ile1580fs)
|
|
|
NM_000038.6(APC):c.4737dup (p.Ile1580fs)
|
rs1114167587
|
|
NM_000038.6(APC):c.4738_4741del (p.Ile1580fs)
|
|
|
NM_000038.6(APC):c.474T>G (p.Tyr158Ter)
|
|
|
NM_000038.6(APC):c.4759del (p.Ser1587fs)
|
|
|
NM_000038.6(APC):c.475dup (p.Tyr159fs)
|
rs863225361
|
|
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer)
|
rs2149615315
|
|
NM_000038.6(APC):c.476dup (p.Tyr159Ter)
|
rs878853451
|
|
NM_000038.6(APC):c.4770del (p.Ala1591fs)
|
rs1554086182
|
|
NM_000038.6(APC):c.4778_4779insT (p.Lys1593fs)
|
rs1064795475
|
|
NM_000038.6(APC):c.4778del (p.Lys1593fs)
|
rs1554086185
|
|
NM_000038.6(APC):c.477C>G (p.Tyr159Ter)
|
rs863224281
|
|
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs)
|
rs1554086196
|
|
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs)
|
rs886039641
|
|
NM_000038.6(APC):c.4802del (p.Leu1601fs)
|
|
|
NM_000038.6(APC):c.481C>T (p.Gln161Ter)
|
rs876658325
|
|
NM_000038.6(APC):c.4824_4827delinsTAC (p.Lys1608fs)
|
rs786202276
|
|
NM_000038.6(APC):c.4838del (p.Pro1613fs)
|
|
|
NM_000038.6(APC):c.4861C>T (p.Gln1621Ter)
|
|
|
NM_000038.6(APC):c.4871del (p.Leu1624fs)
|
|
|
NM_000038.6(APC):c.4875del (p.Gln1625fs)
|
rs587779794
|
|
NM_000038.6(APC):c.487C>T (p.Gln163Ter)
|
rs863225362
|
|
NM_000038.6(APC):c.4885_4895dup (p.Thr1633fs)
|
|
|
NM_000038.6(APC):c.4890del (p.Ser1631fs)
|
rs1114167606
|
|
NM_000038.6(APC):c.4891_4894del (p.Ser1631fs)
|
rs1580653770
|
|
NM_000038.6(APC):c.4897delinsTG (p.Thr1633fs)
|
rs1765800063
|
|
NM_000038.6(APC):c.4928del (p.Cys1643fs)
|
|
|
NM_000038.6(APC):c.4950_4951dup (p.Phe1651fs)
|
rs1554086324
|
|
NM_000038.6(APC):c.4970dup (p.Ser1658fs)
|
rs1554086340
|
|
NM_000038.6(APC):c.497_499delinsTT (p.Thr166fs)
|
rs1114167588
|
|
NM_000038.6(APC):c.498_502del (p.Lys167fs)
|
|
|
NM_000038.6(APC):c.502del (p.Arg168fs)
|
rs1554071602
|
|
NM_000038.6(APC):c.5031del (p.Ala1679fs)
|
|
|
NM_000038.6(APC):c.503del (p.Arg168fs)
|
rs2149615791
|
|
NM_000038.6(APC):c.506_510del (p.Ile169fs)
|
rs1554071607
|
|
NM_000038.6(APC):c.509_512del (p.Asp170fs)
|
rs387906231
|
|
NM_000038.6(APC):c.509_516del (p.Asp170fs)
|
rs1580359502
|
|
NM_000038.6(APC):c.5122_5123del (p.Val1708fs)
|
|
|
NM_000038.6(APC):c.5132del (p.Pro1711fs)
|
|
|
NM_000038.6(APC):c.5141del (p.Asp1714fs)
|
|
|
NM_000038.6(APC):c.5145del (p.Asp1715fs)
|
rs863225363
|
|
NM_000038.6(APC):c.5152_5155dup (p.Glu1719fs)
|
|
|
NM_000038.6(APC):c.5158del (p.Glu1720fs)
|
rs876659652
|
|
NM_000038.6(APC):c.5228_5241del (p.Val1743fs)
|
rs1580657643
|
|
NM_000038.6(APC):c.524_531+4del
|
rs863225364
|
|
NM_000038.6(APC):c.531+1G>A
|
rs876659973
|
|
NM_000038.6(APC):c.531+1G>C
|
rs876659973
|
|
NM_000038.6(APC):c.531+2T>A
|
rs863225365
|
|
NM_000038.6(APC):c.531+2T>C
|
rs863225365
|
|
NM_000038.6(APC):c.531+2dup
|
rs1060503257
|
|
NM_000038.6(APC):c.531+5G>C
|
rs587779798
|
|
NM_000038.6(APC):c.531+6T>C
|
rs1561478536
|
|
NM_000038.6(APC):c.532-1G>A
|
rs1554072547
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
NM_000038.6(APC):c.541C>T (p.Gln181Ter)
|
rs863225366
|
|
NM_000038.6(APC):c.543_546del (p.Thr182fs)
|
rs1554072562
|
|
NM_000038.6(APC):c.5442_5443del (p.Asn1815fs)
|
|
|
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)
|
rs730881273
|
|
NM_000038.6(APC):c.5520del (p.Phe1840fs)
|
rs1114167555
|
|
NM_000038.6(APC):c.5525C>G (p.Ser1842Ter)
|
|
|
NM_000038.6(APC):c.5536dup (p.Tyr1846fs)
|
|
|
NM_000038.6(APC):c.556A>T (p.Arg186Ter)
|
rs1580379633
|
|
NM_000038.6(APC):c.556del (p.Arg186fs)
|
|
|
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)
|
rs1270783041
|
|
NM_000038.6(APC):c.568_569dup (p.Tyr191fs)
|
rs876658176
|
|
NM_000038.6(APC):c.5717C>G (p.Ser1906Ter)
|
|
|
NM_000038.6(APC):c.5757del (p.Arg1920fs)
|
rs786201134
|
|
NM_000038.6(APC):c.5764C>T (p.Gln1922Ter)
|
rs1064793024
|
|
NM_000038.6(APC):c.5803C>T (p.Gln1935Ter)
|
|
|
NM_000038.6(APC):c.5803del (p.Gln1935fs)
|
rs1131691253
|
|
NM_000038.6(APC):c.5804dup (p.Ser1936fs)
|
rs863225367
|
|
NM_000038.6(APC):c.5822dup (p.Asp1942fs)
|
rs1114167549
|
|
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs)
|
rs864622228
|
|
NM_000038.6(APC):c.5834_5838dup (p.Thr1947fs)
|
|
|
NM_000038.6(APC):c.583C>T (p.Gln195Ter)
|
rs749479682
|
|
NM_000038.6(APC):c.5854del (p.Gln1952fs)
|
|
|
NM_000038.6(APC):c.5862del (p.Phe1954fs)
|
|
|
NM_000038.6(APC):c.5864del (p.Ala1955fs)
|
|
|
NM_000038.6(APC):c.5917del (p.Ser1973fs)
|
rs878853458
|
|
NM_000038.6(APC):c.5920del (p.Asp1974fs)
|
rs1554087070
|
|
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs)
|
rs587781330
|
|
NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)
|
rs876660665
|
|
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs)
|
rs1057517544
|
|
NM_000038.6(APC):c.5973del (p.Glu1991fs)
|
rs876659015
|
|
NM_000038.6(APC):c.5989_5992del (p.Gly1997fs)
|
|
|
NM_000038.6(APC):c.5996del (p.Pro1999fs)
|
rs863225369
|
|
NM_000038.6(APC):c.6011_6012insTT (p.Ser2005fs)
|
rs1561604514
|
|
NM_000038.6(APC):c.6053del (p.Pro2018fs)
|
rs1131691142
|
|
NM_000038.6(APC):c.6059_6062del (p.Cys2020fs)
|
rs876660174
|
|
NM_000038.6(APC):c.607C>T (p.Gln203Ter)
|
rs141576417
|
|
NM_000038.6(APC):c.607del (p.Gln203fs)
|
rs1758253391
|
|
NM_000038.6(APC):c.6126_6141del (p.Ile2043fs)
|
rs786203024
|
|
NM_000038.6(APC):c.613_614del (p.Gly205fs)
|
|
|
NM_000038.6(APC):c.6155dup (p.Pro2053fs)
|
|
|
NM_000038.6(APC):c.6189_6190del (p.His2063fs)
|
rs2149959261
|
|
NM_000038.6(APC):c.622C>T (p.Gln208Ter)
|
rs137854583
|
|
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs)
|
rs2149960139
|
|
NM_000038.6(APC):c.6337_6340del (p.Ser2113fs)
|
|
|
NM_000038.6(APC):c.6344T>G (p.Leu2115Ter)
|
rs876659022
|
|
NM_000038.6(APC):c.6355del (p.Ala2119fs)
|
|
|
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)
|
rs1057517568
|
|
NM_000038.6(APC):c.6373_6376del (p.Ser2125fs)
|
rs587782505
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.6390_6391del (p.Asp2131fs)
|
rs1554087390
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
NM_000038.6(APC):c.645+1G>C
|
|
|
NM_000038.6(APC):c.645+1G>T
|
rs863225370
|
|
NM_000038.6(APC):c.6451del (p.Thr2151fs)
|
|
|
NM_000038.6(APC):c.6451dup (p.Thr2151fs)
|
|
|
NM_000038.6(APC):c.646-1G>A
|
rs78847145
|
|
NM_000038.6(APC):c.646-2A>G
|
rs777848503
|
|
NM_000038.6(APC):c.6555_6559del (p.Ser2185fs)
|
rs1580671859
|
|
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)
|
rs752654519
|
|
NM_000038.6(APC):c.6623_6627del (p.Glu2208fs)
|
rs1580672887
|
|
NM_000038.6(APC):c.6628del (p.Ser2210fs)
|
|
|
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)
|
rs768922431
|
|
NM_000038.6(APC):c.673G>T (p.Glu225Ter)
|
|
|
NM_000038.6(APC):c.6742A>T (p.Lys2248Ter)
|
rs1580674179
|
|
NM_000038.6(APC):c.6764del (p.Thr2255fs)
|
rs2149972605
|
|
NM_000038.6(APC):c.6778del (p.Ser2260fs)
|
|
|
NM_000038.6(APC):c.677del (p.Lys226fs)
|
rs863225371
|
|
NM_000038.6(APC):c.6878del (p.Gly2293fs)
|
|
|
NM_000038.6(APC):c.6905C>G (p.Ser2302Ter)
|
rs767372014
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.6976C>T (p.Arg2326Ter)
|
rs1060503355
|
|
NM_000038.6(APC):c.697C>T (p.Gln233Ter)
|
rs1554074772
|
|
NM_000038.6(APC):c.697_698del (p.Gln233fs)
|
|
|
NM_000038.6(APC):c.7016_7076del (p.Pro2339fs)
|
rs1766353088
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
NM_000038.6(APC):c.7114C>T (p.Gln2372Ter)
|
rs1580678722
|
|
NM_000038.6(APC):c.712C>T (p.Gln238Ter)
|
rs1580424314
|
|
NM_000038.6(APC):c.7143_7146del (p.Thr2382fs)
|
rs886039687
|
|
NM_000038.6(APC):c.7151T>G (p.Leu2384Ter)
|
|
|
NM_000038.6(APC):c.723dup (p.Ala242fs)
|
rs1114167565
|
|
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs)
|
rs1469278346
|
|
NM_000038.6(APC):c.7271C>G (p.Ser2424Ter)
|
rs1554088206
|
|
NM_000038.6(APC):c.7295C>G (p.Ser2432Ter)
|
rs1580680919
|
|
NM_000038.6(APC):c.730-494C>G
|
rs2149709778
|
|
NM_000038.6(APC):c.734C>A (p.Ser245Ter)
|
rs1554076133
|
|
NM_000038.6(APC):c.7395_7398del (p.Ser2466fs)
|
rs1580682001
|
|
NM_000038.6(APC):c.739C>T (p.Gln247Ter)
|
rs1580454483
|
|
NM_000038.6(APC):c.7432del (p.Gln2478fs)
|
rs1580682528
|
|
NM_000038.6(APC):c.7438C>T (p.Gln2480Ter)
|
rs1554088359
|
|
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)
|
rs1554088383
|
|
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)
|
rs1554088391
|
|
NM_000038.6(APC):c.7488_7489insA (p.Ser2497fs)
|
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.750_751dup (p.Glu251fs)
|
rs1580454619
|
|
NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)
|
rs1554088413
|
|
NM_000038.6(APC):c.754del (p.Thr252fs)
|
|
|
NM_000038.6(APC):c.7582_7583del (p.Ile2528fs)
|
rs1580684327
|
|
NM_000038.6(APC):c.761C>G (p.Ser254Ter)
|
rs1060503334
|
|
NM_000038.6(APC):c.762dup (p.His255fs)
|
rs1114167608
|
|
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)
|
rs1580685528
|
|
NM_000038.6(APC):c.767dup (p.Asp256fs)
|
|
|
NM_000038.6(APC):c.7709C>G (p.Ser2570Ter)
|
rs1561617778
|
|
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter)
|
rs876659280
|
|
NM_000038.6(APC):c.7744del (p.Glu2582fs)
|
rs1554088632
|
|
NM_000038.6(APC):c.7772_7773del (p.His2591fs)
|
rs2149993527
|
|
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)
|
rs1561618361
|
|
NM_000038.6(APC):c.7844_7847del (p.Ile2615fs)
|
rs1766578455
|
|
NM_000038.6(APC):c.790C>T (p.Gln264Ter)
|
|
|
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs)
|
rs1766600757
|
|
NM_000038.6(APC):c.7931_7937del (p.Ile2644fs)
|
rs886039639
|
|
NM_000038.6(APC):c.7932_7935del (p.Tyr2645fs)
|
rs1554088762
|
|
NM_000038.6(APC):c.7939del (p.Met2647fs)
|
|
|
NM_000038.6(APC):c.802G>T (p.Glu268Ter)
|
rs1326410920
|
|
NM_000038.6(APC):c.8047del (p.Ile2683fs)
|
rs1114167604
|
|
NM_000038.6(APC):c.8140_8141del (p.Arg2714fs)
|
rs1561620875
|
|
NM_000038.6(APC):c.8155G>T (p.Glu2719Ter)
|
|
|
NM_000038.6(APC):c.825del (p.Asn276fs)
|
rs1554076216
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
NM_000038.6(APC):c.834G>A (p.Gln278=)
|
rs1060503261
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.8513dup (p.Tyr2838Ter)
|
rs869312786
|
|
NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter)
|
rs876660375
|
|
NM_000038.6(APC):c.8514C>G (p.Tyr2838Ter)
|
rs876660375
|
|
NM_000038.6(APC):c.875T>A (p.Leu292Ter)
|
rs876660439
|
|
NM_000038.6(APC):c.881del (p.Ser294fs)
|
rs1580511959
|
|
NM_000038.6(APC):c.891_894del (p.His298fs)
|
rs1114167567
|
|
NM_000038.6(APC):c.893del (p.His298fs)
|
|
|
NM_000038.6(APC):c.896_897del (p.Ser299fs)
|
rs397515735
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000038.6(APC):c.926del (p.Gly309fs)
|
|
|
NM_000038.6(APC):c.931_933+2delinsCA
|
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
NM_000038.6(APC):c.933+2T>C
|
rs1057517559
|
|
NM_000038.6(APC):c.933+829A>G
|
rs1580516055
|
|
NM_000038.6(APC):c.934-303_1312+190inv
|
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000038.6(APC):c.937_938del (p.Glu313fs)
|
rs387906239
|
|
NM_000038.6(APC):c.93del (p.Asn32fs)
|
rs1114167561
|
|
NM_000038.6(APC):c.948T>A (p.Tyr316Ter)
|
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.3:c.919_920insALU
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1056_1057del (p.Ile352fs)
|
rs1591511511
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)
|
rs1555068615
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)
|
rs1591517456
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter)
|
rs1555069657
|
|
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)
|
rs1025339570
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.119_122del (p.Ile40fs)
|
rs876659116
|
|
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
|
|
|
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.1224dup (p.Leu409fs)
|
|
|
NM_000051.4(ATM):c.1228_1229insCGCCT (p.Val410fs)
|
|
|
NM_000051.4(ATM):c.1231_1235dup (p.Trp412fs)
|
rs1591518293
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1236-3_1236-2del
|
rs587782572
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)
|
rs2135316531
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)
|
rs1591523010
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
NM_000051.4(ATM):c.1329del (p.Gln445fs)
|
rs587782844
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
NM_000051.4(ATM):c.1348del (p.Glu450fs)
|
rs758004668
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.1358dup (p.Tyr454fs)
|
rs1555070805
|
|
NM_000051.4(ATM):c.135dup (p.His46fs)
|
rs1591447147
|
|
NM_000051.4(ATM):c.1381G>T (p.Glu461Ter)
|
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
NM_000051.4(ATM):c.1394_1395del (p.Cys465fs)
|
rs876659866
|
|
NM_000051.4(ATM):c.1401dup (p.Lys468fs)
|
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs)
|
rs2080105212
|
|
NM_000051.4(ATM):c.1424C>G (p.Ser475Ter)
|
rs786203550
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
NM_000051.4(ATM):c.1439_1448del (p.Leu480fs)
|
rs876658651
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1464del (p.Trp488fs)
|
rs1555070994
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
NM_000051.4(ATM):c.1476dup (p.Arg493fs)
|
rs1565383194
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
NM_000051.4(ATM):c.14_21del (p.Leu5fs)
|
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
NM_000051.4(ATM):c.1512del (p.Phe505fs)
|
rs1555071103
|
|
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)
|
rs786203888
|
|
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)
|
rs2135325561
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
NM_000051.4(ATM):c.1537del (p.Gln513fs)
|
rs1591524613
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.1595delinsTA (p.Cys532fs)
|
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1619_1620delinsAA (p.Cys540Ter)
|
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
NM_000051.4(ATM):c.1643_1656del (p.Thr548fs)
|
rs1591527327
|
|
NM_000051.4(ATM):c.1644del (p.Ser549fs)
|
rs1591527355
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
NM_000051.4(ATM):c.1672G>T (p.Gly558Ter)
|
|
|
NM_000051.4(ATM):c.1689del (p.Met563fs)
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
NM_000051.4(ATM):c.1702del (p.Arg568fs)
|
|
|
NM_000051.4(ATM):c.171G>A (p.Trp57Ter)
|
|
|
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter)
|
rs2135342200
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs)
|
rs1131691151
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1768G>T (p.Glu590Ter)
|
rs876659283
|
|
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
|
|
|
NM_000051.4(ATM):c.1811del (p.Pro604fs)
|
|
|
NM_000051.4(ATM):c.1838_1839del (p.Val613fs)
|
rs1591530854
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
NM_000051.4(ATM):c.1847dup (p.Met617fs)
|
rs1591530991
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
|
|
|
NM_000051.4(ATM):c.1906del (p.His636fs)
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1937C>G (p.Ser646Ter)
|
rs1591534005
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)
|
rs528165789
|
|
NM_000051.4(ATM):c.1976del (p.Lys659fs)
|
|
|
NM_000051.4(ATM):c.1978dup (p.Met660fs)
|
rs1555073243
|
|
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.2018dup (p.His674fs)
|
|
|
NM_000051.4(ATM):c.2025del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.202_203del (p.Ile68fs)
|
|
|
NM_000051.4(ATM):c.2050C>T (p.Gln684Ter)
|
rs1060501691
|
|
NM_000051.4(ATM):c.205C>T (p.Gln69Ter)
|
rs876660631
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs)
|
rs1555073529
|
|
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
|
|
|
NM_000051.4(ATM):c.2129del (p.Thr710fs)
|
rs786203807
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
NM_000051.4(ATM):c.2198_2199insC (p.Val734fs)
|
|
|
NM_000051.4(ATM):c.2200del (p.Gly733_Val734insTer)
|
|
|
NM_000051.4(ATM):c.2223T>A (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)
|
|
|
NM_000051.4(ATM):c.2239del (p.Gln747fs)
|
|
|
NM_000051.4(ATM):c.2254_2255del (p.Leu752fs)
|
|
|
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
|
|
|
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)
|
rs1555075658
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)
|
rs1064795831
|
|
NM_000051.4(ATM):c.2289del (p.Phe763fs)
|
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.2316_2317del (p.Arg772fs)
|
|
|
NM_000051.4(ATM):c.2345dup (p.Cys783fs)
|
rs1591546645
|
|
NM_000051.4(ATM):c.2371del (p.Thr791fs)
|
|
|
NM_000051.4(ATM):c.2376+1G>T
|
rs730881347
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
NM_000051.4(ATM):c.2428A>T (p.Lys810Ter)
|
|
|
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
|
|
|
NM_000051.4(ATM):c.242dup (p.Asn81fs)
|
rs1591451795
|
|
NM_000051.4(ATM):c.2462del (p.Ser821fs)
|
rs2080701610
|
|
NM_000051.4(ATM):c.2464_2466+2del
|
rs2135422352
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2475dup (p.Ile826fs)
|
rs1591587103
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.248_249delinsT (p.Ser83fs)
|
|
|
NM_000051.4(ATM):c.2494dup (p.Arg832fs)
|
rs1131691165
|
|
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)
|
rs876658804
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2508dup (p.Ser837fs)
|
rs770396940
|
|
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)
|
rs2081303434
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
NM_000051.4(ATM):c.2534del (p.Asn845fs)
|
rs1591587673
|
|
NM_000051.4(ATM):c.2539_2543del (p.Met847fs)
|
|
|
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)
|
rs587782280
|
|
NM_000051.4(ATM):c.2548del (p.Glu850fs)
|
|
|
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs)
|
rs2135507893
|
|
NM_000051.4(ATM):c.2572_2574delinsA (p.Phe858fs)
|
|
|
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs)
|
rs1131691148
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
NM_000051.4(ATM):c.2624del (p.Ser875fs)
|
rs1555082344
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
NM_000051.4(ATM):c.2639-22_2639-20del
|
rs1064795554
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)
|
rs1555083131
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
NM_000051.4(ATM):c.2715T>A (p.Cys905Ter)
|
|
|
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.2749dup (p.Ser917fs)
|
rs1555083315
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
|
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
NM_000051.4(ATM):c.2832delinsTT (p.His945fs)
|
|
|
NM_000051.4(ATM):c.2838+1G>A
|
rs1555083469
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2867del (p.Gly956fs)
|
rs2135547839
|
|
NM_000051.4(ATM):c.2869G>T (p.Glu957Ter)
|
|
|
NM_000051.4(ATM):c.286G>T (p.Glu96Ter)
|
rs1591452100
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2882del (p.Leu961fs)
|
rs587781805
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)
|
rs1555084723
|
|
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)
|
rs587781656
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
NM_000051.4(ATM):c.2965del (p.Thr989fs)
|
rs786203539
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter)
|
rs1064794039
|
|
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs)
|
rs1591604513
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
NM_000051.4(ATM):c.3038dup (p.Asp1013fs)
|
rs1131691163
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3058dup (p.Thr1020fs)
|
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter)
|
rs1591608334
|
|
NM_000051.4(ATM):c.3125del (p.Leu1042fs)
|
|
|
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs)
|
rs1565427961
|
|
NM_000051.4(ATM):c.3169A>T (p.Lys1057Ter)
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
NM_000051.4(ATM):c.318del (p.Lys106fs)
|
rs1591452378
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
NM_000051.4(ATM):c.321T>A (p.Cys107Ter)
|
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3247_3260del (p.His1083fs)
|
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
NM_000051.4(ATM):c.3263del (p.Leu1088fs)
|
|
|
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)
|
rs1131691155
|
|
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)
|
rs879254281
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
NM_000051.4(ATM):c.3285-2308_3994-1478dup
|
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.3296_3318del (p.Asp1099fs)
|
|
|
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)
|
rs147557621
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3318del (p.Arg1106fs)
|
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
NM_000051.4(ATM):c.3335dup (p.Leu1113fs)
|
rs876660031
|
|
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)
|
rs2135644009
|
|
NM_000051.4(ATM):c.3348del (p.Gln1116fs)
|
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer)
|
rs1064796055
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
NM_000051.4(ATM):c.3370del (p.Tyr1124fs)
|
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3387del (p.Gly1130fs)
|
rs1591632498
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
NM_000051.4(ATM):c.3391del (p.Gly1130_Met1131insTer)
|
|
|
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer)
|
rs1591636185
|
|
NM_000051.4(ATM):c.3419del (p.Asn1140fs)
|
rs1555091141
|
|
NM_000051.4(ATM):c.3430_3431del (p.Leu1144fs)
|
rs1555091158
|
|
NM_000051.4(ATM):c.3435del (p.Asp1145fs)
|
rs1591636349
|
|
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)
|
rs1565441511
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
NM_000051.4(ATM):c.3451A>T (p.Lys1151Ter)
|
rs1555091196
|
|
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)
|
rs2135666539
|
|
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
|
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
|
|
|
NM_000051.4(ATM):c.3518del (p.Leu1173fs)
|
rs1591636817
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)
|
rs768356403
|
|
NM_000051.4(ATM):c.3560del (p.Pro1187fs)
|
|
|
NM_000051.4(ATM):c.3577-9_3583del
|
rs1555092219
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
|
|
|
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)
|
rs876660783
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
NM_000051.4(ATM):c.3646del (p.Tyr1216fs)
|
|
|
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter)
|
rs1591641318
|
|
NM_000051.4(ATM):c.3656del (p.Leu1219fs)
|
|
|
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter)
|
rs2135689111
|
|
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter)
|
rs2082301397
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.3681_3687del (p.Glu1228fs)
|
rs1591641462
|
|
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)
|
rs2082303743
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)
|
rs1555092477
|
|
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs)
|
rs2135690451
|
|
NM_000051.4(ATM):c.3704del (p.Pro1235fs)
|
rs876658455
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3716T>G (p.Leu1239Ter)
|
|
|
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
|
|
|
NM_000051.4(ATM):c.3747-1G>T
|
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3755dup (p.Tyr1252Ter)
|
rs1591645340
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)
|
rs1555093289
|
|
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)
|
rs2135704536
|
|
NM_000051.4(ATM):c.3760del (p.Val1254fs)
|
rs786203507
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.376_382del (p.Met125_Asp126insTer)
|
rs1591474736
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3813del (p.Ile1271fs)
|
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
|
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.387dup (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.3895del (p.Ala1299fs)
|
rs786203501
|
|
NM_000051.4(ATM):c.3907_3925del (p.Thr1303fs)
|
|
|
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
|
|
|
NM_000051.4(ATM):c.392C>A (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)
|
rs200976093
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
NM_000051.4(ATM):c.3961dup (p.Met1321fs)
|
rs1591646429
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3983del (p.Leu1328fs)
|
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3994del (p.Ile1332fs)
|
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)
|
rs1060501528
|
|
NM_000051.4(ATM):c.4038del (p.Glu1346fs)
|
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
NM_000051.4(ATM):c.4057G>T (p.Glu1353Ter)
|
|
|
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)
|
rs886039488
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
NM_000051.4(ATM):c.4095_4096dup (p.Cys1366fs)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs)
|
rs1591660745
|
|
NM_000051.4(ATM):c.4225del (p.Ser1409fs)
|
rs2082647388
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)
|
rs1591662598
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
NM_000051.4(ATM):c.4267del (p.Cys1423fs)
|
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)
|
rs2135762355
|
|
NM_000051.4(ATM):c.4335dup (p.Val1446fs)
|
rs1555097571
|
|
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs)
|
rs1591663236
|
|
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs)
|
rs1565456465
|
|
NM_000051.4(ATM):c.4348del (p.Leu1449_Leu1450insTer)
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4359_4363del (p.Ile1453fs)
|
rs587782863
|
|
NM_000051.4(ATM):c.4363del (p.Ser1455fs)
|
rs1591663478
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)
|
rs749770110
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
NM_000051.4(ATM):c.440_441del (p.Lys147fs)
|
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
NM_000051.4(ATM):c.442dup (p.Asp148fs)
|
rs1555059380
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs)
|
rs1565460896
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4453_4456del (p.Asp1485fs)
|
|
|
NM_000051.4(ATM):c.4460C>G (p.Ser1487Ter)
|
rs1591673803
|
|
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
|
|
|
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
NM_000051.4(ATM):c.452_453del (p.Ser151fs)
|
|
|
NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer)
|
rs1555059421
|
|
NM_000051.4(ATM):c.4563_4565delinsCA (p.Gly1522fs)
|
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
NM_000051.4(ATM):c.4584dup (p.Tyr1529fs)
|
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.462del (p.Lys154fs)
|
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
NM_000051.4(ATM):c.4660_4661insTTTTTATT (p.Asn1554fs)
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)
|
rs766438805
|
|
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)
|
rs886039515
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
|
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
|
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.475del (p.Ile159fs)
|
rs1555059464
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
NM_000051.4(ATM):c.4776+1G>A
|
|
|
NM_000051.4(ATM):c.4776+1G>C
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4796C>G (p.Ser1599Ter)
|
rs1591684337
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4820del (p.Pro1607fs)
|
rs2135834949
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
NM_000051.4(ATM):c.4844del (p.Lys1615fs)
|
rs1555101791
|
|
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)
|
rs886039592
|
|
NM_000051.4(ATM):c.4879del (p.Gln1627fs)
|
rs2135837254
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
NM_000051.4(ATM):c.4885dup (p.Val1629fs)
|
rs1555101915
|
|
NM_000051.4(ATM):c.4897A>T (p.Arg1633Ter)
|
|
|
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs)
|
rs1591685276
|
|
NM_000051.4(ATM):c.490_496del (p.Trp164fs)
|
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.497-2661A>G
|
rs1591491477
|
|
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
|
|
|
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
|
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
NM_000051.4(ATM):c.5015del (p.Gly1672fs)
|
rs864622662
|
|
NM_000051.4(ATM):c.504del (p.Ser169fs)
|
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
NM_000051.4(ATM):c.5093dup (p.Ala1699fs)
|
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)
|
rs1555104693
|
|
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)
|
rs1591499665
|
|
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs)
|
rs1591702700
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter)
|
rs1591702911
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
NM_000051.4(ATM):c.516_517delinsG (p.Phe172fs)
|
|
|
NM_000051.4(ATM):c.5177+1G>A
|
rs1131691159
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
NM_000051.4(ATM):c.5185del (p.Val1729fs)
|
rs1555105610
|
|
NM_000051.4(ATM):c.5210_5212delinsGT (p.Leu1737fs)
|
rs1591708568
|
|
NM_000051.4(ATM):c.5231dup (p.Thr1745fs)
|
|
|
NM_000051.4(ATM):c.525T>A (p.Tyr175Ter)
|
|
|
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter)
|
rs1363186839
|
|
NM_000051.4(ATM):c.5265_5274del (p.Met1755fs)
|
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
|
|
|
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
|
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5318dup (p.Phe1774fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.531dup (p.Pro178fs)
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5340del (p.Phe1780fs)
|
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
NM_000051.4(ATM):c.5347_5351del (p.Glu1783fs)
|
|
|
NM_000051.4(ATM):c.5365del (p.Leu1789fs)
|
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
NM_000051.4(ATM):c.5402dup (p.Asn1801fs)
|
rs1555106438
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.540del (p.Asp181fs)
|
rs1565369355
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT (p.Cys1811delinsLeuSerLysSerTer)
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs)
|
rs1591712726
|
|
NM_000051.4(ATM):c.5450dup (p.Gly1818fs)
|
|
|
NM_000051.4(ATM):c.546dup (p.His183fs)
|
|
|
NM_000051.4(ATM):c.5475dup (p.Leu1826fs)
|
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
NM_000051.4(ATM):c.5503del (p.Thr1835fs)
|
rs1591717467
|
|
NM_000051.4(ATM):c.5505del (p.Asp1836fs)
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5524dup (p.Leu1842fs)
|
|
|
NM_000051.4(ATM):c.5538dup (p.His1847fs)
|
rs2135943275
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554del (p.Gln1852fs)
|
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.557dup (p.Leu186fs)
|
rs1591500005
|
|
NM_000051.4(ATM):c.5594_5595del (p.His1865fs)
|
rs1555107450
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)
|
rs1064793031
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.564del (p.Arg189fs)
|
rs876658754
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
NM_000051.4(ATM):c.5679_5691del (p.Glu1894fs)
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
NM_000051.4(ATM):c.5690dup (p.Arg1898fs)
|
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)
|
rs1555109102
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)
|
rs1555109147
|
|
NM_000051.4(ATM):c.5761A>T (p.Arg1921Ter)
|
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
NM_000051.4(ATM):c.5773G>T (p.Gly1925Ter)
|
|
|
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)
|
rs1131691254
|
|
NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)
|
rs1555110295
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
NM_000051.4(ATM):c.583del (p.Thr195fs)
|
rs1591500220
|
|
NM_000051.4(ATM):c.5842dup (p.Cys1948fs)
|
|
|
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
|
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
NM_000051.4(ATM):c.5871T>G (p.Tyr1957Ter)
|
|
|
NM_000051.4(ATM):c.5875G>T (p.Glu1959Ter)
|
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)
|
rs2084040947
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5959dup (p.Ser1987fs)
|
rs1555111808
|
|
NM_000051.4(ATM):c.5966_5979delinsCGAGTA (p.Leu1989fs)
|
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
|
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter)
|
rs1565493693
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter)
|
rs1591758899
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)
|
rs1555113567
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
|
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6105_6114del (p.Tyr2036fs)
|
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
NM_000051.4(ATM):c.6147del (p.Thr2048_Tyr2049insTer)
|
|
|
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
|
rs2084621452
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)
|
rs786203341
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)
|
rs1591789046
|
|
NM_000051.4(ATM):c.6219_6229del (p.Cys2074fs)
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
NM_000051.4(ATM):c.6267dup (p.Asp2090fs)
|
|
|
NM_000051.4(ATM):c.6270delinsTT (p.Trp2091fs)
|
rs1555114702
|
|
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)
|
rs2136166539
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
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.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
NM_000051.4(ATM):c.6335dup (p.Cys2112fs)
|
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
NM_000051.4(ATM):c.635_636insG (p.Phe212fs)
|
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6369_6372del (p.Tyr2124fs)
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6372C>A (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6399dup (p.Ser2134fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs)
|
rs1555116468
|
|
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.640dup (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)
|
rs786202264
|
|
NM_000051.4(ATM):c.6436dup (p.Ser2146fs)
|
rs786202323
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
NM_000051.4(ATM):c.6460G>T (p.Glu2154Ter)
|
|
|
NM_000051.4(ATM):c.6466del (p.Glu2156fs)
|
|
|
NM_000051.4(ATM):c.6478A>T (p.Lys2160Ter)
|
|
|
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)
|
rs1317619286
|
|
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
|
rs2085199149
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter)
|
rs2085204408
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6589C>T (p.Gln2197Ter)
|
|
|
NM_000051.4(ATM):c.6606T>A (p.Tyr2202Ter)
|
rs1367617850
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.6650_6651del (p.Asp2216_Phe2217insTer)
|
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
NM_000051.4(ATM):c.6666_6669dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6673dup (p.Ala2225fs)
|
rs587781872
|
|
NM_000051.4(ATM):c.6677_6683del (p.Leu2226fs)
|
|
|
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs)
|
rs1565518539
|
|
NM_000051.4(ATM):c.6691_6692insCTTTT (p.Leu2231fs)
|
|
|
NM_000051.4(ATM):c.6706G>T (p.Glu2236Ter)
|
rs1591129305
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6725del (p.Ser2242fs)
|
rs876658394
|
|
NM_000051.4(ATM):c.6733G>T (p.Glu2245Ter)
|
|
|
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
|
|
|
NM_000051.4(ATM):c.6735dup (p.Cys2246fs)
|
rs2136315218
|
|
NM_000051.4(ATM):c.6748dup (p.Ile2250fs)
|
rs1555119247
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
NM_000051.4(ATM):c.6757_6758insT (p.Lys2253fs)
|
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
NM_000051.4(ATM):c.6796A>T (p.Lys2266Ter)
|
|
|
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)
|
rs1555119364
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
NM_000051.4(ATM):c.6812del (p.Pro2271fs)
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6827_6828inv (p.Phe2276Ter)
|
|
|
NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)
|
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
|
|
|
NM_000051.4(ATM):c.6888del (p.Gln2297fs)
|
|
|
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
|
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6910del (p.Glu2304fs)
|
rs1555119940
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter)
|
rs2136338211
|
|
NM_000051.4(ATM):c.6947dup (p.Lys2317fs)
|
|
|
NM_000051.4(ATM):c.695_699del (p.Ile232fs)
|
|
|
NM_000051.4(ATM):c.6996del (p.Thr2333fs)
|
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7002del (p.Thr2333_Tyr2334insTer)
|
|
|
NM_000051.4(ATM):c.7004_7005del (p.Thr2335fs)
|
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)
|
rs1555120985
|
|
NM_000051.4(ATM):c.7011T>A (p.Cys2337Ter)
|
|
|
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7021del (p.Cys2341fs)
|
|
|
NM_000051.4(ATM):c.7026dup (p.Asn2343fs)
|
rs1555121020
|
|
NM_000051.4(ATM):c.7028del (p.Asn2343fs)
|
rs1591142530
|
|
NM_000051.4(ATM):c.7044_7047del (p.Thr2348_Cys2349insTer)
|
rs1555121066
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)
|
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.708del (p.Thr237fs)
|
rs1555067034
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.709dup (p.Thr237fs)
|
rs2079758064
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
NM_000051.4(ATM):c.7185_7186del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)
|
rs747372355
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
NM_000051.4(ATM):c.7201del (p.Ile2401fs)
|
|
|
NM_000051.4(ATM):c.7212C>A (p.Tyr2404Ter)
|
|
|
NM_000051.4(ATM):c.7212C>G (p.Tyr2404Ter)
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
|
|
|
NM_000051.4(ATM):c.7254_7255del (p.Arg2419fs)
|
|
|
NM_000051.4(ATM):c.7262_7263del (p.Lys2421fs)
|
rs1131691157
|
|
NM_000051.4(ATM):c.7277del (p.Leu2426fs)
|
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)
|
rs1060501525
|
|
NM_000051.4(ATM):c.729_741del (p.Leu243fs)
|
rs2079760023
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7312del (p.Thr2438fs)
|
|
|
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7333del (p.Leu2445fs)
|
rs1591159924
|
|
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7359del (p.Ala2454fs)
|
|
|
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
|
|
|
NM_000051.4(ATM):c.7369G>T (p.Glu2457Ter)
|
rs1591160295
|
|
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)
|
rs1591160284
|
|
NM_000051.4(ATM):c.7395_7411del (p.Lys2465fs)
|
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
NM_000051.4(ATM):c.7410T>A (p.Tyr2470Ter)
|
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
NM_000051.4(ATM):c.7450del (p.Val2484fs)
|
|
|
NM_000051.4(ATM):c.7452dup (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7455_7462del (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)
|
rs786203734
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7491_7492dup (p.Ser2498fs)
|
|
|
NM_000051.4(ATM):c.7492del (p.Ser2498fs)
|
rs1591161470
|
|
NM_000051.4(ATM):c.7515+1G>A
|
rs1591161831
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7526dup (p.Met2509fs)
|
|
|
NM_000051.4(ATM):c.7533del (p.Pro2512fs)
|
|
|
NM_000051.4(ATM):c.753del (p.Cys252fs)
|
rs2135239839
|
|
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter)
|
rs777925486
|
|
NM_000051.4(ATM):c.7557dup (p.Met2520fs)
|
rs2136493530
|
|
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
|
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7599_7600dup (p.Gly2534fs)
|
rs1555124089
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>C
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7646C>A (p.Ser2549Ter)
|
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7675_7676del (p.Ile2559fs)
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
NM_000051.4(ATM):c.7744A>T (p.Arg2582Ter)
|
rs750224234
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
|
|
|
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs)
|
rs1591178362
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)
|
rs766351395
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.7914_7915insT (p.Lys2639Ter)
|
rs1591179199
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
|
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7957_7960dup (p.Thr2654fs)
|
|
|
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
|
|
|
NM_000051.4(ATM):c.7978G>T (p.Glu2660Ter)
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8008A>T (p.Lys2670Ter)
|
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.8026G>T (p.Glu2676Ter)
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8051dup (p.Ser2685fs)
|
rs1591191449
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
NM_000051.4(ATM):c.8081del (p.Gly2694fs)
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8123del (p.Asp2708fs)
|
|
|
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)
|
rs587781990
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
NM_000051.4(ATM):c.816_829dup (p.Glu277delinsValIleLeuTer)
|
|
|
NM_000051.4(ATM):c.8178del (p.Val2727fs)
|
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8202dup (p.Cys2735fs)
|
rs2136695766
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)
|
rs587782525
|
|
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)
|
rs866402530
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
|
|
|
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)
|
rs1565543844
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)
|
rs786202120
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8267del (p.Lys2756fs)
|
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)
|
rs751574257
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.828del (p.Glu277fs)
|
|
|
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.8325del (p.Ile2776fs)
|
rs886039623
|
|
NM_000051.4(ATM):c.8328_8329del (p.Ile2776fs)
|
rs1555135633
|
|
NM_000051.4(ATM):c.8350G>T (p.Glu2784Ter)
|
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8378del (p.Pro2793fs)
|
|
|
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
|
|
|
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
NM_000051.4(ATM):c.8408del (p.Lys2803fs)
|
rs1591249359
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5G>T
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer)
|
rs991405942
|
|
NM_000051.4(ATM):c.8438_8439insCT (p.Glu2814fs)
|
rs1591264194
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.8514dup (p.Phe2839fs)
|
rs876659010
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
NM_000051.4(ATM):c.8533del (p.Trp2845fs)
|
rs1591265186
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)
|
rs56025670
|
|
NM_000051.4(ATM):c.8603_8604insA (p.Gly2869fs)
|
|
|
NM_000051.4(ATM):c.8624dup (p.Asn2875fs)
|
rs876660411
|
|
NM_000051.4(ATM):c.8626_8627dup (p.Leu2877fs)
|
|
|
NM_000051.4(ATM):c.8635_8636del (p.Ile2878_Asn2879insTer)
|
|
|
NM_000051.4(ATM):c.8636del (p.Asn2879fs)
|
|
|
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)
|
rs1057520672
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
NM_000051.4(ATM):c.8687_8688del (p.Gln2896fs)
|
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8714dup (p.Val2906fs)
|
|
|
NM_000051.4(ATM):c.871del (p.His291fs)
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)
|
rs794728018
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8787-1G>A
|
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.8794G>T (p.Glu2932Ter)
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)
|
rs1591314316
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
NM_000051.4(ATM):c.8852dup (p.Leu2952fs)
|
|
|
NM_000051.4(ATM):c.8863del (p.Asp2955fs)
|
|
|
NM_000051.4(ATM):c.8865del (p.Pro2956fs)
|
rs1591384391
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)
|
rs864622669
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
NM_000051.4(ATM):c.889del (p.Thr297fs)
|
|
|
NM_000051.4(ATM):c.8904_8905del (p.Tyr2969fs)
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.8991_8992insG (p.Ile2998fs)
|
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
NM_000051.4(ATM):c.9005del (p.Phe3002fs)
|
rs876659235
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.901+1G>C
|
rs748840480
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
NM_000051.4(ATM):c.901+2T>C
|
rs1218815157
|
|
NM_000051.4(ATM):c.9014dup (p.Ala3006fs)
|
rs1591386748
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
NM_000051.4(ATM):c.901G>C (p.Gly301Arg)
|
rs1064797160
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9057del (p.Val3020fs)
|
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs)
|
rs1591387609
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)
|
rs2137919004
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9091del (p.Gln3031fs)
|
rs2091250180
|
|
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
|
|
|
NM_000051.4(ATM):c.919A>T (p.Lys307Ter)
|
|
|
NM_000051.4(ATM):c.923G>A (p.Trp308Ter)
|
rs1591510553
|
|
NM_000051.4(ATM):c.929del (p.Ser310fs)
|
rs1591510597
|
|
NM_000051.4(ATM):c.95del (p.Arg32fs)
|
|
|
NM_000051.4(ATM):c.964_968del (p.Glu322fs)
|
rs1555068404
|
|
NM_000051.4(ATM):c.970dup (p.Ser324fs)
|
|
|
NM_000051.4(ATM):c.972_979del (p.Ser324fs)
|
rs2135266573
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
NM_000051.4(ATM):c.992dup (p.Tyr332fs)
|
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter)
|
rs1895931425
|
|
NM_000057.4(BLM):c.1129del (p.Glu377fs)
|
rs1555419710
|
|
NM_000057.4(BLM):c.1154del (p.Thr385fs)
|
|
|
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter)
|
rs1596228957
|
|
NM_000057.4(BLM):c.1176dup (p.Leu393fs)
|
rs1358266880
|
|
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)
|
rs758132052
|
|
NM_000057.4(BLM):c.1255dup (p.Ser419fs)
|
|
|
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
NM_000057.4(BLM):c.1440dup (p.Ala481fs)
|
rs1596229894
|
|
NM_000057.4(BLM):c.1469_1470dup (p.Phe492fs)
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1500del (p.Phe500fs)
|
rs1555419889
|
|
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
NM_000057.4(BLM):c.1633del (p.Arg545fs)
|
|
|
NM_000057.4(BLM):c.1700G>A (p.Trp567Ter)
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1763del (p.Lys588fs)
|
|
|
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)
|
rs138943954
|
|
NM_000057.4(BLM):c.1820_1823del (p.Cys607fs)
|
|
|
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
|
|
|
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
|
|
|
NM_000057.4(BLM):c.1921del (p.His641fs)
|
|
|
NM_000057.4(BLM):c.1925del (p.Glu642fs)
|
|
|
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)
|
rs1596232266
|
|
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2243del (p.Asn748fs)
|
|
|
NM_000057.4(BLM):c.2261C>G (p.Ser754Ter)
|
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)
|
rs1896235438
|
|
NM_000057.4(BLM):c.2630_2633del (p.Asp877fs)
|
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
NM_000057.4(BLM):c.2781del (p.Asp928fs)
|
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3055_3058del (p.His1019fs)
|
rs1596259860
|
|
NM_000057.4(BLM):c.3090T>A (p.Cys1030Ter)
|
|
|
NM_000057.4(BLM):c.3101del (p.Thr1034fs)
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3177del (p.Asp1060fs)
|
|
|
NM_000057.4(BLM):c.3199_3202dup (p.Lys1068delinsMetTer)
|
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
NM_000057.4(BLM):c.3220_3221insG (p.Thr1074fs)
|
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
|
|
|
NM_000057.4(BLM):c.3445_3450delinsT (p.Leu1149fs)
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3480del (p.Leu1159_Tyr1160insTer)
|
|
|
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
|
rs1596267627
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
|
|
|
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
|
|
|
NM_000057.4(BLM):c.3538_3539del (p.Val1180fs)
|
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)
|
rs1567063125
|
|
NM_000057.4(BLM):c.3679A>T (p.Lys1227Ter)
|
rs1596268270
|
|
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)
|
rs1897238597
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3859G>T (p.Glu1287Ter)
|
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
|
|
|
NM_000057.4(BLM):c.447del (p.Ser149fs)
|
|
|
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
|
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.511dup (p.Thr171fs)
|
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.604_607del (p.Asn202fs)
|
rs774777021
|
|
NM_000057.4(BLM):c.700_713del (p.Asp234fs)
|
rs1567035745
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.722del (p.Gly241fs)
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.829G>T (p.Glu277Ter)
|
rs1596221020
|
|
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)
|
rs1567036579
|
|
NM_000057.4(BLM):c.942del (p.Ser315fs)
|
rs1555418701
|
|
NM_000057.4(BLM):c.984del (p.Asp329fs)
|
rs2151152104
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.4228_4229insA (p.Thr1410Asnfs)
|
rs879255450
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.3:c.425+409_4780dup
|
|
|
NM_000059.3:c.6842-671_8332-1572dup
|
|
|
NM_000059.3:c.7435+350_8331+3158dup
|
|
|
NM_000059.4(BRCA2):c.1003G>T (p.Glu335Ter)
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1023_1024del (p.Cys341_Glu342delinsTer)
|
rs1593891760
|
|
NM_000059.4(BRCA2):c.1029del (p.Lys343fs)
|
rs80359260
|
|
NM_000059.4(BRCA2):c.1029dup (p.Ser344fs)
|
rs80359260
|
|
NM_000059.4(BRCA2):c.1039C>T (p.Gln347Ter)
|
rs794726967
|
|
NM_000059.4(BRCA2):c.1041dup (p.Val348fs)
|
|
|
NM_000059.4(BRCA2):c.1048G>T (p.Glu350Ter)
|
rs2072403231
|
|
NM_000059.4(BRCA2):c.1051A>T (p.Lys351Ter)
|
rs1003779807
|
|
NM_000059.4(BRCA2):c.1053del (p.Lys351fs)
|
rs886040342
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1057_1058del (p.Ser353fs)
|
rs2072403503
|
|
NM_000059.4(BRCA2):c.1065dup (p.Ser356fs)
|
|
|
NM_000059.4(BRCA2):c.1097T>A (p.Leu366Ter)
|
rs886040345
|
|
NM_000059.4(BRCA2):c.1097dup (p.Leu366fs)
|
rs397507570
|
|
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)
|
rs397507571
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter)
|
rs80358407
|
|
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)
|
rs397507572
|
|
NM_000059.4(BRCA2):c.1128del (p.Phe376fs)
|
rs80359263
|
|
NM_000059.4(BRCA2):c.1133del (p.Ser378fs)
|
|
|
NM_000059.4(BRCA2):c.1134del (p.Ser378fs)
|
rs876658589
|
|
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.1156G>T (p.Glu386Ter)
|
rs1593892076
|
|
NM_000059.4(BRCA2):c.1156_1159del (p.Glu386fs)
|
rs2137468157
|
|
NM_000059.4(BRCA2):c.115del (p.Ala39fs)
|
rs397507573
|
|
NM_000059.4(BRCA2):c.1163_1166dup (p.Ser390fs)
|
rs786202789
|
|
NM_000059.4(BRCA2):c.1164_1168del (p.Pro389fs)
|
rs886038061
|
|
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)
|
rs786201237
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
NM_000059.4(BRCA2):c.1202C>G (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.1219del (p.Gln407fs)
|
rs80359267
|
|
NM_000059.4(BRCA2):c.1231_1234del (p.Ile411fs)
|
|
|
NM_000059.4(BRCA2):c.1237del (p.Leu413fs)
|
rs886040351
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter)
|
rs397507266
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)
|
rs80358419
|
|
NM_000059.4(BRCA2):c.1265del (p.Asn422fs)
|
rs80359273
|
|
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)
|
rs886040353
|
|
NM_000059.4(BRCA2):c.1278del (p.Asp427fs)
|
rs80359274
|
|
NM_000059.4(BRCA2):c.1288del (p.Asp430fs)
|
rs1593892424
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1303dup (p.Arg435fs)
|
|
|
NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs)
|
rs786201950
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1310_1313dup (p.Asp438fs)
|
|
|
NM_000059.4(BRCA2):c.1314_1317del (p.Phe439fs)
|
|
|
NM_000059.4(BRCA2):c.1316_1317dup (p.Leu440fs)
|
rs886040359
|
|
NM_000059.4(BRCA2):c.1324del (p.Ser442fs)
|
rs2137470202
|
|
NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter)
|
rs80358421
|
|
NM_000059.4(BRCA2):c.1354dup (p.Leu452fs)
|
|
|
NM_000059.4(BRCA2):c.1362del (p.Lys454fs)
|
rs80359282
|
|
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)
|
rs2072410817
|
|
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter)
|
rs778142232
|
|
NM_000059.4(BRCA2):c.1368_1369del (p.Lys457fs)
|
rs397507583
|
|
NM_000059.4(BRCA2):c.1370del (p.Lys457fs)
|
rs1593892663
|
|
NM_000059.4(BRCA2):c.1376del (p.Pro458_Leu459insTer)
|
rs886040363
|
|
NM_000059.4(BRCA2):c.1379del (p.Asn460fs)
|
rs1064793945
|
|
NM_000059.4(BRCA2):c.137del (p.Pro46fs)
|
rs2072285588
|
|
NM_000059.4(BRCA2):c.1384G>T (p.Glu462Ter)
|
rs1593892698
|
|
NM_000059.4(BRCA2):c.1387del (p.Thr463fs)
|
rs1566223465
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
NM_000059.4(BRCA2):c.1389del (p.Val464fs)
|
rs397507584
|
|
NM_000059.4(BRCA2):c.1393del (p.Val464_Val465insTer)
|
rs1555281890
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)
|
rs80358429
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
NM_000059.4(BRCA2):c.1428_1431del (p.His477fs)
|
rs587781804
|
|
NM_000059.4(BRCA2):c.1433_1434del (p.Thr478fs)
|
rs886040365
|
|
NM_000059.4(BRCA2):c.1433del (p.Thr478fs)
|
rs1593892854
|
|
NM_000059.4(BRCA2):c.1444del (p.Ala483fs)
|
rs397507588
|
|
NM_000059.4(BRCA2):c.1447dup (p.Ala483fs)
|
rs587782611
|
|
NM_000059.4(BRCA2):c.1449del (p.Ala483_Val484insTer)
|
|
|
NM_000059.4(BRCA2):c.144del (p.Glu49fs)
|
rs864622434
|
|
NM_000059.4(BRCA2):c.1454delinsTGTATT (p.Lys485fs)
|
rs2072413505
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
NM_000059.4(BRCA2):c.1457del (p.Gln486fs)
|
rs1593892928
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1464dup (p.Ser489fs)
|
|
|
NM_000059.4(BRCA2):c.1465del (p.Ser489fs)
|
rs1593892953
|
|
NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter)
|
rs1064794018
|
|
NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs)
|
rs80359285
|
|
NM_000059.4(BRCA2):c.1499del (p.Gly500fs)
|
rs397507591
|
|
NM_000059.4(BRCA2):c.1504A>T (p.Lys502Ter)
|
|
|
NM_000059.4(BRCA2):c.1511_1512del (p.Ser504fs)
|
rs80359286
|
|
NM_000059.4(BRCA2):c.151del (p.Glu51fs)
|
rs80359287
|
|
NM_000059.4(BRCA2):c.1532C>A (p.Ser511Ter)
|
rs1555281935
|
|
NM_000059.4(BRCA2):c.1536_1537dup (p.Lys513fs)
|
rs1555281937
|
|
NM_000059.4(BRCA2):c.1537A>T (p.Lys513Ter)
|
rs1555281938
|
|
NM_000059.4(BRCA2):c.1539del (p.Glu514fs)
|
rs1593893158
|
|
NM_000059.4(BRCA2):c.1552del (p.Ala518fs)
|
rs786201986
|
|
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1562C>G (p.Ser521Ter)
|
|
|
NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA (p.Lys53delinsAlaGlyArgGlyArgSerArgLeuTer)
|
rs1593882502
|
|
NM_000059.4(BRCA2):c.1570_1571del (p.Met524fs)
|
rs863224824
|
|
NM_000059.4(BRCA2):c.1570_1571dup (p.Met524fs)
|
rs863224824
|
|
NM_000059.4(BRCA2):c.1571del (p.Met524fs)
|
|
|
NM_000059.4(BRCA2):c.1573del (p.Thr525fs)
|
|
|
NM_000059.4(BRCA2):c.1593del (p.Glu532fs)
|
rs397507272
|
|
NM_000059.4(BRCA2):c.1593dup (p.Glu532fs)
|
rs397507272
|
|
NM_000059.4(BRCA2):c.1595_1599del (p.Glu532fs)
|
rs80359291
|
|
NM_000059.4(BRCA2):c.1597del (p.Thr533fs)
|
rs80359292
|
|
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs)
|
rs80359293
|
|
NM_000059.4(BRCA2):c.1599del (p.Glu534fs)
|
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.160_161del (p.Asn54fs)
|
rs878853297
|
|
NM_000059.4(BRCA2):c.1612dup (p.Ser538fs)
|
|
|
NM_000059.4(BRCA2):c.161del (p.Asn54fs)
|
rs878853297
|
|
NM_000059.4(BRCA2):c.1631_1632del (p.Thr544fs)
|
rs80359295
|
|
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter)
|
rs398122729
|
|
NM_000059.4(BRCA2):c.1653del (p.Ser552fs)
|
|
|
NM_000059.4(BRCA2):c.1654del (p.Ser552fs)
|
rs80359297
|
|
NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter)
|
rs876659627
|
|
NM_000059.4(BRCA2):c.1658del (p.Leu553fs)
|
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
NM_000059.4(BRCA2):c.1670_1674del (p.Asn556_Leu557insTer)
|
|
|
NM_000059.4(BRCA2):c.1673_1677del (p.Ile558fs)
|
rs1555282011
|
|
NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter)
|
rs80358455
|
|
NM_000059.4(BRCA2):c.1688G>A (p.Trp563Ter)
|
rs1566224110
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1689del (p.Trp563fs)
|
rs876659278
|
|
NM_000059.4(BRCA2):c.1696del (p.Thr566fs)
|
rs1555282016
|
|
NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs)
|
rs886040384
|
|
NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter)
|
rs201523522
|
|
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter)
|
rs201523522
|
|
NM_000059.4(BRCA2):c.171_187del (p.Tyr57_Lys63delinsTer)
|
rs1593882540
|
|
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.1753A>T (p.Lys585Ter)
|
rs1555282048
|
|
NM_000059.4(BRCA2):c.1754del (p.Lys585fs)
|
rs80359301
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter)
|
rs397507275
|
|
NM_000059.4(BRCA2):c.1759_1763del (p.Lys586_Thr587insTer)
|
|
|
NM_000059.4(BRCA2):c.1762_1766del (p.Asn588fs)
|
rs80359303
|
|
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)
|
rs80359303
|
|
NM_000059.4(BRCA2):c.1765_1766del (p.Lys589fs)
|
rs397507606
|
|
NM_000059.4(BRCA2):c.1766dup (p.Phe590fs)
|
rs2137474660
|
|
NM_000059.4(BRCA2):c.1767_1770del (p.Ile591fs)
|
rs1593893796
|
|
NM_000059.4(BRCA2):c.176del (p.Pro59fs)
|
rs876660504
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1785_1803del (p.His595fs)
|
rs1555282073
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1798_1802del (p.Tyr600fs)
|
rs886040390
|
|
NM_000059.4(BRCA2):c.17_18del (p.Lys6fs)
|
rs80359298
|
|
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)
|
rs80358464
|
|
NM_000059.4(BRCA2):c.1805del (p.Gly602fs)
|
rs397507608
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter)
|
rs80358471
|
|
NM_000059.4(BRCA2):c.1825C>T (p.Gln609Ter)
|
rs80358472
|
|
NM_000059.4(BRCA2):c.1830dup (p.Ser611fs)
|
|
|
NM_000059.4(BRCA2):c.1831del (p.Ser611fs)
|
rs80359311
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
NM_000059.4(BRCA2):c.1844del (p.Asn615fs)
|
rs1555282120
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1850_1851delinsAG (p.Ser617Ter)
|
rs2137475631
|
|
NM_000059.4(BRCA2):c.1854delinsAA (p.Gln619fs)
|
rs276174815
|
|
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)
|
rs80358476
|
|
NM_000059.4(BRCA2):c.1855del (p.Gln619fs)
|
rs397507611
|
|
NM_000059.4(BRCA2):c.1860del (p.Phe620fs)
|
|
|
NM_000059.4(BRCA2):c.1861G>T (p.Glu621Ter)
|
|
|
NM_000059.4(BRCA2):c.1864_1865delinsTA (p.Ala622Ter)
|
rs2072424360
|
|
NM_000059.4(BRCA2):c.1874_1875del (p.Ala624_Phe625insTer)
|
|
|
NM_000059.4(BRCA2):c.1887_1888insG (p.Thr630fs)
|
|
|
NM_000059.4(BRCA2):c.1888_1889delinsT (p.Thr630fs)
|
|
|
NM_000059.4(BRCA2):c.1888_1889insGA (p.Thr630fs)
|
rs80359314
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.1893del (p.Phe631fs)
|
|
|
NM_000059.4(BRCA2):c.1899del (p.Asn633fs)
|
|
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
|
|
|
NM_000059.4(BRCA2):c.1928del (p.Val643fs)
|
|
|
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.1957_1966del (p.Glu653fs)
|
rs1593895866
|
|
NM_000059.4(BRCA2):c.1960G>T (p.Glu654Ter)
|
rs786203845
|
|
NM_000059.4(BRCA2):c.1964del (p.Pro655fs)
|
rs1555282375
|
|
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)
|
rs397507617
|
|
NM_000059.4(BRCA2):c.1978dup (p.Thr660fs)
|
|
|
NM_000059.4(BRCA2):c.1992del (p.Thr665fs)
|
rs1555282390
|
|
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter)
|
rs879255439
|
|
NM_000059.4(BRCA2):c.2025_2026del (p.Cys676fs)
|
rs886040402
|
|
NM_000059.4(BRCA2):c.2036del (p.Asn679fs)
|
rs80359318
|
|
NM_000059.4(BRCA2):c.2037_2038del (p.Thr680fs)
|
|
|
NM_000059.4(BRCA2):c.2047_2050del (p.Ser683fs)
|
rs80359319
|
|
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)
|
rs587782780
|
|
NM_000059.4(BRCA2):c.206del (p.Pro69fs)
|
|
|
NM_000059.4(BRCA2):c.2077del (p.Cys693fs)
|
|
|
NM_000059.4(BRCA2):c.2091_2094dup (p.Gln699fs)
|
|
|
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.2096_2098dup (p.Leu700Ter)
|
|
|
NM_000059.4(BRCA2):c.2097del (p.Gln699fs)
|
|
|
NM_000059.4(BRCA2):c.2099del (p.Leu700fs)
|
|
|
NM_000059.4(BRCA2):c.20_23del (p.Glu7fs)
|
rs397507623
|
|
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.2129C>G (p.Ser710Ter)
|
rs886040405
|
|
NM_000059.4(BRCA2):c.2134_2137dup (p.Gln713fs)
|
rs2137483571
|
|
NM_000059.4(BRCA2):c.2139_2145del (p.Gln713fs)
|
|
|
NM_000059.4(BRCA2):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000059.4(BRCA2):c.2147del (p.Gln716fs)
|
rs1555282477
|
|
NM_000059.4(BRCA2):c.2147dup (p.Cys717fs)
|
rs886040408
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2151T>A (p.Cys717Ter)
|
rs876660512
|
|
NM_000059.4(BRCA2):c.2167del (p.Ser723fs)
|
rs2072451752
|
|
NM_000059.4(BRCA2):c.2168del (p.Ser723fs)
|
|
|
NM_000059.4(BRCA2):c.216_217del (p.Asn72fs)
|
|
|
NM_000059.4(BRCA2):c.2170A>T (p.Lys724Ter)
|
|
|
NM_000059.4(BRCA2):c.2173A>T (p.Lys725Ter)
|
rs431825294
|
|
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter)
|
rs398122741
|
|
NM_000059.4(BRCA2):c.217del (p.Gln73fs)
|
rs1555280383
|
|
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>A (p.Ser744Ter)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter)
|
rs878853561
|
|
NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter)
|
rs1555282563
|
|
NM_000059.4(BRCA2):c.2244_2245del (p.Tyr748_Ser749delinsTer)
|
rs879255442
|
|
NM_000059.4(BRCA2):c.2247dup (p.Asp750Ter)
|
|
|
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)
|
rs886040416
|
|
NM_000059.4(BRCA2):c.2253dup (p.Asp752Ter)
|
|
|
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs)
|
rs80359326
|
|
NM_000059.4(BRCA2):c.2256del (p.Gln754fs)
|
rs876659318
|
|
NM_000059.4(BRCA2):c.2261_2264del (p.Gln754fs)
|
rs1555282584
|
|
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)
|
rs1057518637
|
|
NM_000059.4(BRCA2):c.2269A>T (p.Lys757Ter)
|
rs886040419
|
|
NM_000059.4(BRCA2):c.2271_2272del (p.Leu759fs)
|
rs886040420
|
|
NM_000059.4(BRCA2):c.2272del (p.Ser758fs)
|
rs886040420
|
|
NM_000059.4(BRCA2):c.2275del (p.Leu759fs)
|
rs2137484897
|
|
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs)
|
rs886038071
|
|
NM_000059.4(BRCA2):c.2287del (p.His763fs)
|
rs80359327
|
|
NM_000059.4(BRCA2):c.22_23del (p.Arg8fs)
|
rs397507623
|
|
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs)
|
rs1593896605
|
|
NM_000059.4(BRCA2):c.2327del (p.Lys776fs)
|
rs1593896647
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.2339_2352del (p.Ser780fs)
|
rs2137485485
|
|
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.2376C>G (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs)
|
rs1555282658
|
|
NM_000059.4(BRCA2):c.2399_2412del (p.Gly800fs)
|
|
|
NM_000059.4(BRCA2):c.2399del (p.Gly800fs)
|
rs886040423
|
|
NM_000059.4(BRCA2):c.2400_2401del (p.Asn801fs)
|
rs1566226658
|
|
NM_000059.4(BRCA2):c.2400dup (p.Asn801Ter)
|
|
|
NM_000059.4(BRCA2):c.2407dup (p.Tyr803fs)
|
rs2072457050
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.240dup (p.Phe81fs)
|
rs2138705179
|
|
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)
|
rs397507285
|
|
NM_000059.4(BRCA2):c.2426del (p.Glu808_Leu809insTer)
|
rs1593896907
|
|
NM_000059.4(BRCA2):c.2435del (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2437_2438del (p.Ile813fs)
|
|
|
NM_000059.4(BRCA2):c.2465del (p.Cys822fs)
|
|
|
NM_000059.4(BRCA2):c.2466T>A (p.Cys822Ter)
|
rs2072458139
|
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
rs397507631
|
|
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)
|
rs886040427
|
|
NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)
|
rs886040428
|
|
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)
|
rs397507286
|
|
NM_000059.4(BRCA2):c.2485A>T (p.Lys829Ter)
|
|
|
NM_000059.4(BRCA2):c.2494G>T (p.Glu832Ter)
|
rs786202875
|
|
NM_000059.4(BRCA2):c.2501del (p.Leu834fs)
|
rs876659862
|
|
NM_000059.4(BRCA2):c.2507del (p.Pro836fs)
|
|
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
rs80358515
|
|
NM_000059.4(BRCA2):c.2516dup (p.Tyr839Ter)
|
rs1593897122
|
|
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
|
rs80358516
|
|
NM_000059.4(BRCA2):c.2526dup (p.Ala843fs)
|
rs80359332
|
|
NM_000059.4(BRCA2):c.2534dup (p.Ser846fs)
|
|
|
NM_000059.4(BRCA2):c.2543del (p.Lys848fs)
|
rs2072459783
|
|
NM_000059.4(BRCA2):c.2546del (p.Val849fs)
|
|
|
NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter)
|
rs886038075
|
|
NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs)
|
rs2137487619
|
|
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
NM_000059.4(BRCA2):c.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.2589del (p.Gln864fs)
|
rs397507632
|
|
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)
|
rs1060502414
|
|
NM_000059.4(BRCA2):c.2596G>T (p.Glu866Ter)
|
rs864622476
|
|
NM_000059.4(BRCA2):c.2603del (p.Thr868fs)
|
rs276174824
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2611dup (p.Ser871fs)
|
rs876658929
|
|
NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter)
|
rs397507634
|
|
NM_000059.4(BRCA2):c.2612del (p.Ile870_Ser871insTer)
|
|
|
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)
|
rs398122749
|
|
NM_000059.4(BRCA2):c.2622del (p.Val875fs)
|
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs)
|
rs276174825
|
|
NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer)
|
rs276174826
|
|
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.2657del (p.Asn886fs)
|
rs886040439
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
NM_000059.4(BRCA2):c.2670del (p.Phe890fs)
|
rs1555282786
|
|
NM_000059.4(BRCA2):c.2677del (p.Gln893fs)
|
rs879254111
|
|
NM_000059.4(BRCA2):c.2681dup (p.Ala895fs)
|
|
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
rs979372317
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
NM_000059.4(BRCA2):c.270_273dup (p.Gln92fs)
|
rs1555280423
|
|
NM_000059.4(BRCA2):c.2716dup (p.Thr906fs)
|
rs876659767
|
|
NM_000059.4(BRCA2):c.271_272del (p.Tyr91fs)
|
rs886040441
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
NM_000059.4(BRCA2):c.2746_2750dup (p.Asn918fs)
|
rs2137489438
|
|
NM_000059.4(BRCA2):c.2748del (p.Cys916fs)
|
rs886040443
|
|
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)
|
rs80358529
|
|
NM_000059.4(BRCA2):c.2760del (p.Ile921fs)
|
rs80359346
|
|
NM_000059.4(BRCA2):c.276dup (p.Ser93fs)
|
rs80359345
|
|
NM_000059.4(BRCA2):c.2772_2775del (p.Asn924fs)
|
|
|
NM_000059.4(BRCA2):c.2775del (p.Thr926fs)
|
rs1064793063
|
|
NM_000059.4(BRCA2):c.2776_2780del (p.Thr926fs)
|
rs1593897737
|
|
NM_000059.4(BRCA2):c.2786dup (p.Leu929fs)
|
rs80359347
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
NM_000059.4(BRCA2):c.2809C>T (p.Gln937Ter)
|
rs2137490179
|
|
NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)
|
rs80359354
|
|
NM_000059.4(BRCA2):c.2813del (p.Ala938fs)
|
|
|
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.2835del (p.Asp946fs)
|
rs80359356
|
|
NM_000059.4(BRCA2):c.2835dup (p.Asp946fs)
|
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.2840del (p.Leu947fs)
|
rs431825300
|
|
NM_000059.4(BRCA2):c.2842dup (p.Val948fs)
|
rs80359359
|
|
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)
|
rs886040449
|
|
NM_000059.4(BRCA2):c.2860del (p.Glu954fs)
|
rs1593897978
|
|
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs)
|
|
|
NM_000059.4(BRCA2):c.2886dup (p.Ile963fs)
|
rs2072467270
|
|
NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer)
|
rs2137490962
|
|
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.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
NM_000059.4(BRCA2):c.2945del (p.Ile982fs)
|
rs886040453
|
|
NM_000059.4(BRCA2):c.2957del (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.2960dup (p.Asn987fs)
|
rs886040455
|
|
NM_000059.4(BRCA2):c.2967del (p.Asp988_Tyr989insTer)
|
|
|
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.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter)
|
rs1555283001
|
|
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)
|
rs397507300
|
|
NM_000059.4(BRCA2):c.3018del (p.Gly1007fs)
|
rs397507651
|
|
NM_000059.4(BRCA2):c.3032del (p.Thr1011fs)
|
rs1064794550
|
|
NM_000059.4(BRCA2):c.3038C>G (p.Ser1013Ter)
|
rs2137492443
|
|
NM_000059.4(BRCA2):c.3051del (p.Lys1018fs)
|
rs80359367
|
|
NM_000059.4(BRCA2):c.3064_3070del (p.His1022fs)
|
|
|
NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter)
|
rs886040458
|
|
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer)
|
rs80359369
|
|
NM_000059.4(BRCA2):c.3068del (p.Asn1023fs)
|
rs80359368
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter)
|
rs80358552
|
|
NM_000059.4(BRCA2):c.3080_3082delinsCC (p.Ser1027fs)
|
|
|
NM_000059.4(BRCA2):c.308del (p.Lys102_Leu103insTer)
|
rs1057517572
|
|
NM_000059.4(BRCA2):c.3096_3110delinsT (p.Lys1032fs)
|
rs397507655
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)
|
rs1060502449
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3125dup (p.Leu1042fs)
|
rs2137493447
|
|
NM_000059.4(BRCA2):c.3133_3134del (p.Cys1044_Val1045insTer)
|
rs1593898654
|
|
NM_000059.4(BRCA2):c.313_314del (p.Leu105fs)
|
rs2138705929
|
|
NM_000059.4(BRCA2):c.3141dup (p.Val1048fs)
|
|
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
rs80358561
|
|
NM_000059.4(BRCA2):c.3150del (p.Leu1051fs)
|
rs1593898689
|
|
NM_000059.4(BRCA2):c.3157_3163del (p.Leu1053fs)
|
rs1593898717
|
|
NM_000059.4(BRCA2):c.316+2T>C
|
rs81002805
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.316+5G>C
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)
|
rs80359371
|
|
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.317-182_632-460dup
|
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)
|
rs730881521
|
|
NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs)
|
rs1555283079
|
|
NM_000059.4(BRCA2):c.3176_3177del (p.Leu1059fs)
|
rs587782022
|
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
rs876657678
|
|
NM_000059.4(BRCA2):c.3187_3188insG (p.Gln1063fs)
|
rs1555283086
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)
|
rs864622609
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
NM_000059.4(BRCA2):c.3195del (p.Asn1066fs)
|
rs397507657
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
NM_000059.4(BRCA2):c.3201del (p.Val1068fs)
|
rs864622672
|
|
NM_000059.4(BRCA2):c.3202del (p.Val1068fs)
|
rs397507658
|
|
NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter)
|
rs886040464
|
|
NM_000059.4(BRCA2):c.3226_3230del (p.Val1076fs)
|
rs397507659
|
|
NM_000059.4(BRCA2):c.3230_3231insAGTAG (p.Ser1079fs)
|
|
|
NM_000059.4(BRCA2):c.323del (p.Asn108fs)
|
|
|
NM_000059.4(BRCA2):c.3257_3258del (p.Ile1086fs)
|
rs876658618
|
|
NM_000059.4(BRCA2):c.3262_3263del (p.Pro1088fs)
|
rs80359379
|
|
NM_000059.4(BRCA2):c.3262_3263dup (p.Gln1089fs)
|
|
|
NM_000059.4(BRCA2):c.3263dup (p.Gln1089fs)
|
rs80359379
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)
|
rs80359383
|
|
NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)
|
rs397507663
|
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
rs397507663
|
|
NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs)
|
rs1555280102
|
|
NM_000059.4(BRCA2):c.3301del (p.His1101fs)
|
|
|
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)
|
rs397507305
|
|
NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter)
|
rs80358578
|
|
NM_000059.4(BRCA2):c.3323del (p.Lys1108fs)
|
rs869320782
|
|
NM_000059.4(BRCA2):c.3326del (p.Ala1109fs)
|
rs398122762
|
|
NM_000059.4(BRCA2):c.3335del (p.Thr1112fs)
|
rs886040470
|
|
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)
|
rs398122763
|
|
NM_000059.4(BRCA2):c.3342_3348del (p.Ser1115fs)
|
|
|
NM_000059.4(BRCA2):c.3351del (p.Ile1117_Leu1118insTer)
|
rs587781436
|
|
NM_000059.4(BRCA2):c.3353_3355del (p.Leu1118_Glu1119delinsTer)
|
rs786203329
|
|
NM_000059.4(BRCA2):c.3358del (p.Glu1120fs)
|
rs587782672
|
|
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.3364_3370delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG (p.Gly1122_Gln1124delinsIleLeuLeuIleAsnTer)
|
rs1555283197
|
|
NM_000059.4(BRCA2):c.3365del (p.Gly1122fs)
|
rs786202160
|
|
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
|
|
|
NM_000059.4(BRCA2):c.337A>T (p.Arg113Ter)
|
rs1593885872
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.3385_3386del (p.Gln1129fs)
|
|
|
NM_000059.4(BRCA2):c.3386dup (p.Phe1130fs)
|
rs431825305
|
|
NM_000059.4(BRCA2):c.3395_3396delinsG (p.Lys1132fs)
|
|
|
NM_000059.4(BRCA2):c.3396del (p.Lys1132fs)
|
rs876658427
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
|
NM_000059.4(BRCA2):c.3411dup (p.Gln1138fs)
|
rs587781850
|
|
NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter)
|
rs587782613
|
|
NM_000059.4(BRCA2):c.3415_3420delinsG (p.Lys1139fs)
|
rs1593899478
|
|
NM_000059.4(BRCA2):c.342_343del (p.His114fs)
|
rs878853568
|
|
NM_000059.4(BRCA2):c.342dup (p.Lys115Ter)
|
rs1555280845
|
|
NM_000059.4(BRCA2):c.3430del (p.Val1144fs)
|
rs1593899526
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3442C>T (p.Gln1148Ter)
|
rs397507667
|
|
NM_000059.4(BRCA2):c.3447del (p.Met1149fs)
|
|
|
NM_000059.4(BRCA2):c.3454_3455dup (p.Leu1152fs)
|
rs80359385
|
|
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3458del (p.Lys1153fs)
|
rs80359386
|
|
NM_000059.4(BRCA2):c.3458dup (p.Thr1154fs)
|
rs80359386
|
|
NM_000059.4(BRCA2):c.345_346del (p.Leu117fs)
|
|
|
NM_000059.4(BRCA2):c.3469G>T (p.Glu1157Ter)
|
rs80358595
|
|
NM_000059.4(BRCA2):c.3476del (p.Cys1159fs)
|
|
|
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)
|
rs431825307
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3493del (p.His1165fs)
|
|
|
NM_000059.4(BRCA2):c.3496_3499del (p.His1165_Val1166insTer)
|
rs2137497218
|
|
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.3530_3533del (p.Asp1177fs)
|
rs886040481
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3556delinsTTACAA (p.Val1186fs)
|
rs1593899885
|
|
NM_000059.4(BRCA2):c.3568del (p.Arg1190fs)
|
|
|
NM_000059.4(BRCA2):c.3570del (p.Lys1191fs)
|
rs80359390
|
|
NM_000059.4(BRCA2):c.357del (p.Thr119_Val120insTer)
|
|
|
NM_000059.4(BRCA2):c.3584del (p.Leu1195fs)
|
|
|
NM_000059.4(BRCA2):c.3593del (p.Asn1198fs)
|
rs397507677
|
|
NM_000059.4(BRCA2):c.3593dup (p.Asn1198fs)
|
rs397507677
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3600del (p.Asp1199_Cys1200insTer)
|
|
|
NM_000059.4(BRCA2):c.3600dup (p.Asn1201Ter)
|
rs2137498229
|
|
NM_000059.4(BRCA2):c.3620_3621dup (p.Leu1208fs)
|
rs1555283311
|
|
NM_000059.4(BRCA2):c.3623del (p.Tyr1207_Leu1208insTer)
|
|
|
NM_000059.4(BRCA2):c.3635del (p.Asn1212fs)
|
rs1555283322
|
|
NM_000059.4(BRCA2):c.3636_3639del (p.Asn1212fs)
|
rs876659656
|
|
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs)
|
rs397507678
|
|
NM_000059.4(BRCA2):c.3645_3647delinsTA (p.Phe1216fs)
|
rs1064793064
|
|
NM_000059.4(BRCA2):c.3678dup (p.Leu1227fs)
|
rs1555283351
|
|
NM_000059.4(BRCA2):c.3682_3685del (p.Asn1228fs)
|
rs80359396
|
|
NM_000059.4(BRCA2):c.3683del (p.Asn1228fs)
|
|
|
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)
|
rs869312759
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
NM_000059.4(BRCA2):c.36del (p.Phe12fs)
|
rs80359393
|
|
NM_000059.4(BRCA2):c.36dup (p.Glu13Ter)
|
rs80359393
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)
|
rs34575057
|
|
NM_000059.4(BRCA2):c.370del (p.Met124fs)
|
rs397507681
|
|
NM_000059.4(BRCA2):c.3710del (p.Ala1237fs)
|
rs1555283371
|
|
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs)
|
rs80359401
|
|
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)
|
rs80359401
|
|
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer)
|
rs1555283373
|
|
NM_000059.4(BRCA2):c.3720_3723del (p.Phe1241fs)
|
rs886038093
|
|
NM_000059.4(BRCA2):c.3723del (p.Phe1241fs)
|
rs886040491
|
|
NM_000059.4(BRCA2):c.3737del (p.Asn1246fs)
|
rs80359402
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3767del (p.His1256fs)
|
rs1555283393
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)
|
rs886038094
|
|
NM_000059.4(BRCA2):c.3775_3782dup (p.Ser1262fs)
|
rs2137499896
|
|
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter)
|
rs80358620
|
|
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)
|
rs80358622
|
|
NM_000059.4(BRCA2):c.3803_3804del (p.Ser1268fs)
|
|
|
NM_000059.4(BRCA2):c.3811del (p.Ser1271fs)
|
rs1555283405
|
|
NM_000059.4(BRCA2):c.3824_3825del (p.Ile1275fs)
|
rs1555283411
|
|
NM_000059.4(BRCA2):c.3826G>T (p.Glu1276Ter)
|
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
NM_000059.4(BRCA2):c.3836dup (p.Asn1279fs)
|
rs397507690
|
|
NM_000059.4(BRCA2):c.3845_3847delinsA (p.Thr1282fs)
|
rs1593900672
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3847del (p.Thr1282_Val1283insTer)
|
rs397507691
|
|
NM_000059.4(BRCA2):c.3849_3852del (p.Ser1284fs)
|
rs397507692
|
|
NM_000059.4(BRCA2):c.3853del (p.Glu1285fs)
|
|
|
NM_000059.4(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860_3863del (p.Asn1287fs)
|
rs80359410
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3861_3864del (p.Asn1287fs)
|
rs886040500
|
|
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.3873del (p.Gln1291fs)
|
rs398122772
|
|
NM_000059.4(BRCA2):c.3879_3880del (p.Leu1294fs)
|
rs1593900808
|
|
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)
|
rs80358632
|
|
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)
|
rs879255309
|
|
NM_000059.4(BRCA2):c.3895G>T (p.Glu1299Ter)
|
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)
|
rs1555283478
|
|
NM_000059.4(BRCA2):c.3934_3935del (p.Asn1312fs)
|
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
NM_000059.4(BRCA2):c.3939C>A (p.Tyr1313Ter)
|
rs80358641
|
|
NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter)
|
rs80358641
|
|
NM_000059.4(BRCA2):c.3946_3947del (p.Asn1316fs)
|
|
|
NM_000059.4(BRCA2):c.3957_3960del (p.Asn1319fs)
|
rs80359417
|
|
NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter)
|
rs80358644
|
|
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.3del (p.Met1fs)
|
rs80359418
|
|
NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs)
|
rs398122775
|
|
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)
|
rs747070579
|
|
NM_000059.4(BRCA2):c.4005dup (p.Phe1336fs)
|
rs397507701
|
|
NM_000059.4(BRCA2):c.4007_4008insCATC (p.Asp1337fs)
|
rs878853577
|
|
NM_000059.4(BRCA2):c.4013_4014del (p.Gly1338fs)
|
rs1555283504
|
|
NM_000059.4(BRCA2):c.4021del (p.Ser1341fs)
|
rs397507702
|
|
NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)
|
|
|
NM_000059.4(BRCA2):c.4022del (p.Asp1340_Ser1341insTer)
|
|
|
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)
|
rs886040509
|
|
NM_000059.4(BRCA2):c.4034del (p.Asp1345fs)
|
|
|
NM_000059.4(BRCA2):c.4035_4038dup (p.Val1347fs)
|
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
NM_000059.4(BRCA2):c.4037_4043del (p.Thr1346fs)
|
|
|
NM_000059.4(BRCA2):c.4048_4051del (p.His1350fs)
|
rs80359423
|
|
NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter)
|
rs886040510
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
NM_000059.4(BRCA2):c.4076del (p.Thr1359fs)
|
rs80359424
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter)
|
|
|
NM_000059.4(BRCA2):c.4092_4093del (p.Ile1364fs)
|
rs80359426
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
rs80358658
|
|
NM_000059.4(BRCA2):c.4099A>T (p.Lys1367Ter)
|
|
|
NM_000059.4(BRCA2):c.4102delinsGTC (p.Leu1368fs)
|
|
|
NM_000059.4(BRCA2):c.4103del (p.Leu1368fs)
|
rs1555283552
|
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
rs80358659
|
|
NM_000059.4(BRCA2):c.4112dup (p.Phe1372fs)
|
rs730881606
|
|
NM_000059.4(BRCA2):c.4115_4116insC (p.Met1373fs)
|
|
|
NM_000059.4(BRCA2):c.4126G>T (p.Gly1376Ter)
|
rs2137503142
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
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.4135del (p.Gln1379fs)
|
rs1555283588
|
|
NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs)
|
rs80359431
|
|
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)
|
rs276174842
|
|
NM_000059.4(BRCA2):c.413_417del (p.Ser137_Cys138insTer)
|
rs876658850
|
|
NM_000059.4(BRCA2):c.4144G>T (p.Glu1382Ter)
|
|
|
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)
|
rs1555280869
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
NM_000059.4(BRCA2):c.4169del (p.Leu1390fs)
|
rs80359433
|
|
NM_000059.4(BRCA2):c.4169dup (p.Leu1390fs)
|
rs80359433
|
|
NM_000059.4(BRCA2):c.4177dup (p.Ala1393fs)
|
rs876659977
|
|
NM_000059.4(BRCA2):c.4185_4221del (p.Gln1396fs)
|
|
|
NM_000059.4(BRCA2):c.4188del (p.Glu1397fs)
|
rs80359434
|
|
NM_000059.4(BRCA2):c.4197T>A (p.Cys1399Ter)
|
rs1339703491
|
|
NM_000059.4(BRCA2):c.41_63del (p.Ile14fs)
|
|
|
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.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
NM_000059.4(BRCA2):c.4223del (p.Gln1408fs)
|
rs397507712
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4245del (p.Glu1415fs)
|
rs767234936
|
|
NM_000059.4(BRCA2):c.4246C>T (p.Gln1416Ter)
|
rs786202421
|
|
NM_000059.4(BRCA2):c.4253del (p.Ile1418fs)
|
|
|
NM_000059.4(BRCA2):c.4256_4257del (p.Lys1419fs)
|
|
|
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs)
|
rs1566229958
|
|
NM_000059.4(BRCA2):c.426-6_438del
|
rs886040925
|
|
NM_000059.4(BRCA2):c.4260delinsAA (p.Asp1420fs)
|
rs2137504553
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.4264G>T (p.Glu1422Ter)
|
|
|
NM_000059.4(BRCA2):c.4266_4267del (p.Glu1422fs)
|
rs1555283667
|
|
NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)
|
rs80359438
|
|
NM_000059.4(BRCA2):c.4277del (p.Thr1426fs)
|
rs730881608
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)
|
rs80358665
|
|
NM_000059.4(BRCA2):c.428del (p.Pro143fs)
|
rs886040519
|
|
NM_000059.4(BRCA2):c.429del (p.Val144fs)
|
rs587781945
|
|
NM_000059.4(BRCA2):c.4304del (p.Asn1435fs)
|
rs886040520
|
|
NM_000059.4(BRCA2):c.4314del (p.Ala1439fs)
|
rs80359441
|
|
NM_000059.4(BRCA2):c.4317_4327del (p.Ala1439_Lys1440insTer)
|
rs2072501463
|
|
NM_000059.4(BRCA2):c.4319_4320del (p.Lys1440fs)
|
rs397507328
|
|
NM_000059.4(BRCA2):c.4319_4326del (p.Lys1440fs)
|
|
|
NM_000059.4(BRCA2):c.4322_4323del (p.Glu1441fs)
|
rs1593902043
|
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
rs80358670
|
|
NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter)
|
rs80358670
|
|
NM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer)
|
rs1555283735
|
|
NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)
|
rs431825319
|
|
NM_000059.4(BRCA2):c.4361del (p.Pro1454fs)
|
rs1593902131
|
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
rs876659847
|
|
NM_000059.4(BRCA2):c.4376del (p.Asn1459fs)
|
rs1555283752
|
|
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs)
|
rs397507715
|
|
NM_000059.4(BRCA2):c.4383_4384del (p.Leu1462fs)
|
rs876660510
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)
|
rs397507717
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)
|
rs80359446
|
|
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)
|
rs397507718
|
|
NM_000059.4(BRCA2):c.4411A>T (p.Arg1471Ter)
|
rs1555283772
|
|
NM_000059.4(BRCA2):c.4412del (p.Arg1471fs)
|
|
|
NM_000059.4(BRCA2):c.4414_4415del (p.Lys1472fs)
|
rs397507332
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
NM_000059.4(BRCA2):c.4416_4417del (p.Asn1473fs)
|
|
|
NM_000059.4(BRCA2):c.4419del (p.Asn1473fs)
|
rs1064794337
|
|
NM_000059.4(BRCA2):c.4424dup (p.Met1475fs)
|
rs886040530
|
|
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)
|
rs397507719
|
|
NM_000059.4(BRCA2):c.4444G>T (p.Glu1482Ter)
|
rs1002900129
|
|
NM_000059.4(BRCA2):c.4447del (p.Thr1483fs)
|
rs876660755
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs)
|
rs80359449
|
|
NM_000059.4(BRCA2):c.4458del (p.Lys1487fs)
|
rs886040532
|
|
NM_000059.4(BRCA2):c.4459_4460insT (p.Lys1487fs)
|
|
|
NM_000059.4(BRCA2):c.4460_4461del (p.Lys1487fs)
|
rs876660026
|
|
NM_000059.4(BRCA2):c.4462_4480del (p.His1488fs)
|
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
NM_000059.4(BRCA2):c.4467_4474delinsTGTTTTT (p.Lys1489fs)
|
rs886040533
|
|
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)
|
rs397507334
|
|
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)
|
rs80359451
|
|
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)
|
rs1057517636
|
|
NM_000059.4(BRCA2):c.4477_4478del (p.Glu1493fs)
|
rs786203492
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.44_45dup (p.Lys16fs)
|
|
|
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
NM_000059.4(BRCA2):c.451_452dup (p.Val151_Thr152insTer)
|
rs876659317
|
|
NM_000059.4(BRCA2):c.451_454dup (p.Thr152fs)
|
|
|
NM_000059.4(BRCA2):c.4523del (p.Gly1508fs)
|
|
|
NM_000059.4(BRCA2):c.4523dup (p.Gln1509fs)
|
rs1593902621
|
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
rs80358683
|
|
NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)
|
rs886040537
|
|
NM_000059.4(BRCA2):c.4531G>T (p.Glu1511Ter)
|
rs376338226
|
|
NM_000059.4(BRCA2):c.4533del (p.Glu1511fs)
|
rs886038106
|
|
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
NM_000059.4(BRCA2):c.4556_4559del (p.Pro1519fs)
|
rs2137507601
|
|
NM_000059.4(BRCA2):c.4556del (p.Pro1519fs)
|
rs397507728
|
|
NM_000059.4(BRCA2):c.4563_4564del (p.Leu1522fs)
|
rs483353115
|
|
NM_000059.4(BRCA2):c.4576dup (p.Thr1526fs)
|
rs886040539
|
|
NM_000059.4(BRCA2):c.4587dup (p.Lys1530fs)
|
rs745456776
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
NM_000059.4(BRCA2):c.4592_4593del (p.Lys1531fs)
|
rs397507731
|
|
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)
|
rs397507731
|
|
NM_000059.4(BRCA2):c.4594_4597del (p.Val1532fs)
|
rs886038107
|
|
NM_000059.4(BRCA2):c.4609G>T (p.Glu1537Ter)
|
rs753244927
|
|
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)
|
rs869320783
|
|
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)
|
rs869320793
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)
|
rs876658654
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4641del (p.Asp1547fs)
|
rs1593902988
|
|
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)
|
rs397507734
|
|
NM_000059.4(BRCA2):c.4649_4650del (p.Glu1550fs)
|
rs1593903006
|
|
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)
|
rs876661062
|
|
NM_000059.4(BRCA2):c.466_467del (p.Arg155_Asp156insTer)
|
rs886040542
|
|
NM_000059.4(BRCA2):c.4672del (p.Ser1558fs)
|
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
NM_000059.4(BRCA2):c.4681dup (p.His1561fs)
|
|
|
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs)
|
rs1593903166
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter)
|
rs878853585
|
|
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.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
NM_000059.4(BRCA2):c.4715_4718del (p.Ala1572fs)
|
|
|
NM_000059.4(BRCA2):c.471del (p.Lys157fs)
|
rs1060502395
|
|
NM_000059.4(BRCA2):c.4721_4725del (p.Lys1574fs)
|
rs1593903272
|
|
NM_000059.4(BRCA2):c.4731_4736delinsG (p.Leu1578fs)
|
rs276174846
|
|
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.4736_4743dup (p.Thr1582fs)
|
|
|
NM_000059.4(BRCA2):c.473C>G (p.Ser158Ter)
|
rs80358701
|
|
NM_000059.4(BRCA2):c.4741G>T (p.Glu1581Ter)
|
|
|
NM_000059.4(BRCA2):c.475+1G>A
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
NM_000059.4(BRCA2):c.4780del (p.Met1594fs)
|
rs397507742
|
|
NM_000059.4(BRCA2):c.4793del (p.Leu1598fs)
|
|
|
NM_000059.4(BRCA2):c.4794_4797del (p.Asn1599fs)
|
rs747418290
|
|
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter)
|
rs2072513173
|
|
NM_000059.4(BRCA2):c.4805_4812del (p.Lys1602fs)
|
|
|
NM_000059.4(BRCA2):c.4808del (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.4810dup (p.Leu1604fs)
|
rs1555283942
|
|
NM_000059.4(BRCA2):c.4817_4818del (p.Ser1606fs)
|
|
|
NM_000059.4(BRCA2):c.4817_4821del (p.Val1605_Ser1606insTer)
|
rs1593903507
|
|
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)
|
rs587782854
|
|
NM_000059.4(BRCA2):c.4828dup (p.Val1610fs)
|
rs397507744
|
|
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs)
|
rs80359468
|
|
NM_000059.4(BRCA2):c.4844del (p.Leu1615fs)
|
|
|
NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter)
|
rs398122786
|
|
NM_000059.4(BRCA2):c.4856del (p.Asn1619fs)
|
|
|
NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter)
|
rs80358710
|
|
NM_000059.4(BRCA2):c.486del (p.Ser163fs)
|
rs587780653
|
|
NM_000059.4(BRCA2):c.4872_4873del (p.Glu1625fs)
|
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
NM_000059.4(BRCA2):c.4884_4885del (p.Lys1628fs)
|
rs1555283971
|
|
NM_000059.4(BRCA2):c.4894del (p.Ser1632fs)
|
rs1555283980
|
|
NM_000059.4(BRCA2):c.4903_4904del (p.Leu1635fs)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4904dup (p.Leu1635fs)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4911del (p.Val1639fs)
|
|
|
NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter)
|
rs886040553
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
NM_000059.4(BRCA2):c.4930_4937del (p.Glu1644fs)
|
rs886040554
|
|
NM_000059.4(BRCA2):c.4935_4936delinsT (p.Lys1645fs)
|
rs1593903850
|
|
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)
|
rs431825323
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs)
|
rs397507751
|
|
NM_000059.4(BRCA2):c.4940_4946del (p.Thr1647fs)
|
|
|
NM_000059.4(BRCA2):c.4943del (p.Ala1648fs)
|
rs2137511937
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
NM_000059.4(BRCA2):c.4952del (p.Pro1651fs)
|
rs397507752
|
|
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)
|
rs398122789
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
NM_000059.4(BRCA2):c.4979_4980del (p.Pro1660fs)
|
|
|
NM_000059.4(BRCA2):c.4983T>A (p.Tyr1661Ter)
|
|
|
NM_000059.4(BRCA2):c.5006del (p.Ala1668_Leu1669insTer)
|
rs1593904133
|
|
NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)
|
rs864622073
|
|
NM_000059.4(BRCA2):c.5017dup (p.Thr1673fs)
|
rs1593904158
|
|
NM_000059.4(BRCA2):c.5025T>A (p.Cys1675Ter)
|
rs370591460
|
|
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.5049_5050insT (p.Thr1684fs)
|
rs1593904263
|
|
NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter)
|
rs398122791
|
|
NM_000059.4(BRCA2):c.5065_5066delinsAAA (p.Ala1689fs)
|
rs276174852
|
|
NM_000059.4(BRCA2):c.5066del (p.Ala1689fs)
|
rs2137513666
|
|
NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter)
|
rs886038116
|
|
NM_000059.4(BRCA2):c.5073del (p.Lys1691fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5076del (p.Trp1692fs)
|
rs876660524
|
|
NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter)
|
rs200265692
|
|
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter)
|
rs938190132
|
|
NM_000059.4(BRCA2):c.5087_5090dup (p.Ile1697fs)
|
|
|
NM_000059.4(BRCA2):c.5090dup (p.Phe1698fs)
|
|
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter)
|
rs80358735
|
|
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)
|
rs1064795652
|
|
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.5119dup (p.Thr1707fs)
|
rs886040567
|
|
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)
|
rs886039318
|
|
NM_000059.4(BRCA2):c.512dup (p.Lys172fs)
|
rs398122793
|
|
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.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
NM_000059.4(BRCA2):c.5157_5161del (p.Asn1719fs)
|
rs80359488
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
rs80358740
|
|
NM_000059.4(BRCA2):c.516+1G>A
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+1G>C
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+2T>A
|
rs397507764
|
|
NM_000059.4(BRCA2):c.5162del (p.Asn1721fs)
|
rs1555284090
|
|
NM_000059.4(BRCA2):c.517-1G>A
|
rs81002849
|
|
NM_000059.4(BRCA2):c.5171_5172dup (p.Ala1725Ter)
|
rs587782075
|
|
NM_000059.4(BRCA2):c.5184_5185del (p.Asp1728fs)
|
rs1555284094
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)
|
rs587779363
|
|
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs)
|
rs876660228
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)
|
rs483353082
|
|
NM_000059.4(BRCA2):c.5205_5208del (p.Gln1736fs)
|
rs886040575
|
|
NM_000059.4(BRCA2):c.5205dup (p.Gln1736fs)
|
rs483353082
|
|
NM_000059.4(BRCA2):c.5207_5208del (p.Gln1736fs)
|
rs397507773
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5216_5217insAAA (p.Tyr1739Ter)
|
rs886040578
|
|
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)
|
rs886040578
|
|
NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter)
|
rs80358746
|
|
NM_000059.4(BRCA2):c.5217T>G (p.Tyr1739Ter)
|
rs80358746
|
|
NM_000059.4(BRCA2):c.5217_5218delinsC (p.Tyr1739_Leu1740insTer)
|
rs886040579
|
|
NM_000059.4(BRCA2):c.5217_5219del (p.Tyr1739_Leu1740delinsTer)
|
|
|
NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer)
|
rs80359494
|
|
NM_000059.4(BRCA2):c.5217_5221del (p.Tyr1739_Ser1741delinsTer)
|
rs80359495
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5221_5225delinsC (p.Ser1741fs)
|
rs786202798
|
|
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)
|
rs80359498
|
|
NM_000059.4(BRCA2):c.522del (p.Gln175fs)
|
rs1060502465
|
|
NM_000059.4(BRCA2):c.5236del (p.Ser1746fs)
|
rs1593904901
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter)
|
rs750385844
|
|
NM_000059.4(BRCA2):c.5241_5242insTA (p.Ser1748Ter)
|
rs749980674
|
|
NM_000059.4(BRCA2):c.5241del (p.Asn1747fs)
|
rs879255457
|
|
NM_000059.4(BRCA2):c.5254del (p.His1752fs)
|
rs397507777
|
|
NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter)
|
rs886040584
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)
|
rs1555284139
|
|
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.5286T>A (p.Tyr1762Ter)
|
rs80358754
|
|
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)
|
rs397507778
|
|
NM_000059.4(BRCA2):c.5297dup (p.Asn1766fs)
|
rs1555284157
|
|
NM_000059.4(BRCA2):c.5298del (p.Asn1766fs)
|
rs886040586
|
|
NM_000059.4(BRCA2):c.5308del (p.Ser1770fs)
|
rs876659236
|
|
NM_000059.4(BRCA2):c.5317G>T (p.Glu1773Ter)
|
rs1566232201
|
|
NM_000059.4(BRCA2):c.5334_5340del (p.Asn1778fs)
|
rs876658888
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5350_5351delinsT (p.Asn1784fs)
|
rs397507779
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5352dup (p.Thr1785fs)
|
rs1555284188
|
|
NM_000059.4(BRCA2):c.5353del (p.Thr1785fs)
|
rs786202385
|
|
NM_000059.4(BRCA2):c.5355_5356del (p.Ser1786fs)
|
rs1555284191
|
|
NM_000059.4(BRCA2):c.5357del (p.Ser1786fs)
|
rs876659482
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs)
|
rs587779364
|
|
NM_000059.4(BRCA2):c.5373_5374del (p.Ser1792fs)
|
rs1593905291
|
|
NM_000059.4(BRCA2):c.5374del (p.Ser1792fs)
|
|
|
NM_000059.4(BRCA2):c.5379del (p.Asn1793fs)
|
rs1593905326
|
|
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)
|
rs587782598
|
|
NM_000059.4(BRCA2):c.5386_5393del (p.Asp1796fs)
|
|
|
NM_000059.4(BRCA2):c.538_539del (p.Ile180fs)
|
rs80359510
|
|
NM_000059.4(BRCA2):c.538_539dup (p.Ser181fs)
|
rs80359510
|
|
NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)
|
rs730882168
|
|
NM_000059.4(BRCA2):c.5404_5405del (p.Gln1802fs)
|
rs1593905386
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
NM_000059.4(BRCA2):c.5422_5423del (p.Ile1808fs)
|
rs587781585
|
|
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)
|
rs80358767
|
|
NM_000059.4(BRCA2):c.5436del (p.Glu1812fs)
|
rs397507351
|
|
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)
|
rs1566232471
|
|
NM_000059.4(BRCA2):c.5454del (p.Cys1820fs)
|
rs80359513
|
|
NM_000059.4(BRCA2):c.5470_5471del (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)
|
rs786203853
|
|
NM_000059.4(BRCA2):c.5500_5501del (p.Asn1833_Ser1834insTer)
|
|
|
NM_000059.4(BRCA2):c.5501_5504del (p.Ser1834fs)
|
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
NM_000059.4(BRCA2):c.554del (p.Gly185fs)
|
rs2137452259
|
|
NM_000059.4(BRCA2):c.5551del (p.Ile1851fs)
|
rs886040594
|
|
NM_000059.4(BRCA2):c.5556_5557insC (p.Cys1853fs)
|
|
|
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)
|
rs587782011
|
|
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)
|
rs397507787
|
|
NM_000059.4(BRCA2):c.5564C>G (p.Ser1855Ter)
|
|
|
NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter)
|
rs80358778
|
|
NM_000059.4(BRCA2):c.5569_5573del (p.Glu1857fs)
|
rs397507788
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer)
|
rs397507355
|
|
NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter)
|
rs431825332
|
|
NM_000059.4(BRCA2):c.5580_5584del (p.Lys1860fs)
|
rs397507789
|
|
NM_000059.4(BRCA2):c.5583del (p.Lys1861_Val1862insTer)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs)
|
rs80359523
|
|
NM_000059.4(BRCA2):c.5590_5593del (p.Asp1864fs)
|
rs879255460
|
|
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs)
|
rs80359524
|
|
NM_000059.4(BRCA2):c.5603_5606del (p.Asp1868fs)
|
rs397507356
|
|
NM_000059.4(BRCA2):c.5604_5605del (p.Asp1868fs)
|
rs773229361
|
|
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.5626G>T (p.Glu1876Ter)
|
rs397507793
|
|
NM_000059.4(BRCA2):c.5630del (p.Asn1877fs)
|
rs876660636
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
|
|
|
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_5648del (p.Ser1882fs)
|
|
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
rs80358785
|
|
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.5665del (p.Ile1889fs)
|
rs397507796
|
|
NM_000059.4(BRCA2):c.5667del (p.Met1890fs)
|
rs1593906137
|
|
NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs)
|
rs876660311
|
|
NM_000059.4(BRCA2):c.5675del (p.Gly1892fs)
|
rs1593906164
|
|
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.568_575del (p.Pro190fs)
|
rs886040605
|
|
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)
|
rs398122539
|
|
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)
|
rs397507797
|
|
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs)
|
rs80359528
|
|
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)
|
rs587782901
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs)
|
rs886040608
|
|
NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs)
|
rs794727014
|
|
NM_000059.4(BRCA2):c.5728_5729dup (p.Asn1910fs)
|
|
|
NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter)
|
rs397507800
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5750C>G (p.Ser1917Ter)
|
rs886040609
|
|
NM_000059.4(BRCA2):c.5756del (p.Lys1919fs)
|
|
|
NM_000059.4(BRCA2):c.5763del (p.Phe1921fs)
|
rs80359534
|
|
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)
|
rs80359534
|
|
NM_000059.4(BRCA2):c.5764del (p.Ala1922fs)
|
|
|
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs)
|
rs80359535
|
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
rs80358806
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
NM_000059.4(BRCA2):c.5789T>A (p.Leu1930Ter)
|
rs397507805
|
|
NM_000059.4(BRCA2):c.5789T>G (p.Leu1930Ter)
|
rs397507805
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)
|
rs1555284402
|
|
NM_000059.4(BRCA2):c.5807_5816delinsGTC (p.Met1936fs)
|
rs1555284407
|
|
NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs)
|
rs886040612
|
|
NM_000059.4(BRCA2):c.5812_5813delinsC (p.Gly1938fs)
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.5822_5823del (p.Lys1941fs)
|
|
|
NM_000059.4(BRCA2):c.5823del (p.Val1942fs)
|
rs80359540
|
|
NM_000059.4(BRCA2):c.5826_5827del (p.Val1942_Ser1943insTer)
|
rs1555284412
|
|
NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter)
|
rs80358810
|
|
NM_000059.4(BRCA2):c.5842del (p.Cys1948fs)
|
rs398122541
|
|
NM_000059.4(BRCA2):c.5845del (p.Asp1949fs)
|
|
|
NM_000059.4(BRCA2):c.5846del (p.Asp1949fs)
|
rs1555284423
|
|
NM_000059.4(BRCA2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)
|
rs886038053
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)
|
rs375064902
|
|
NM_000059.4(BRCA2):c.5857del (p.Glu1953fs)
|
rs80359545
|
|
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)
|
rs786202700
|
|
NM_000059.4(BRCA2):c.5863del (p.Ser1955fs)
|
rs80359546
|
|
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)
|
rs80358815
|
|
NM_000059.4(BRCA2):c.5871del (p.Cys1958fs)
|
rs2137521888
|
|
NM_000059.4(BRCA2):c.5874T>A (p.Cys1958Ter)
|
|
|
NM_000059.4(BRCA2):c.5884_5887del (p.Ile1962fs)
|
|
|
NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer)
|
rs1593880798
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5911del (p.Ser1971fs)
|
rs1555284457
|
|
NM_000059.4(BRCA2):c.5912del (p.Ser1971fs)
|
rs1555284458
|
|
NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter)
|
rs80358825
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
NM_000059.4(BRCA2):c.5928del (p.Ile1977fs)
|
rs1593906951
|
|
NM_000059.4(BRCA2):c.5934dup (p.Ser1979Ter)
|
rs80359548
|
|
NM_000059.4(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer)
|
rs786202156
|
|
NM_000059.4(BRCA2):c.5944dup (p.Ser1982fs)
|
rs796460349
|
|
NM_000059.4(BRCA2):c.594del (p.Ala199fs)
|
|
|
NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs)
|
rs397507814
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
NM_000059.4(BRCA2):c.5963dup (p.Ser1989fs)
|
rs2072542766
|
|
NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)
|
rs886038134
|
|
NM_000059.4(BRCA2):c.5968_5969del (p.Asp1990fs)
|
rs80359552
|
|
NM_000059.4(BRCA2):c.5969del (p.Asp1990fs)
|
rs886038135
|
|
NM_000059.4(BRCA2):c.5984del (p.Asn1995fs)
|
rs397507818
|
|
NM_000059.4(BRCA2):c.5984dup (p.Asn1995fs)
|
rs397507818
|
|
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.6033_6034del (p.Ser2012fs)
|
rs397507823
|
|
NM_000059.4(BRCA2):c.6036del (p.Val2014fs)
|
rs1555284508
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6039del (p.Val2014fs)
|
rs876660637
|
|
NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter)
|
rs587776468
|
|
NM_000059.4(BRCA2):c.6048del (p.Phe2016fs)
|
rs886040629
|
|
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.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs)
|
rs397507826
|
|
NM_000059.4(BRCA2):c.6082G>T (p.Glu2028Ter)
|
rs397507827
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter)
|
rs397507828
|
|
NM_000059.4(BRCA2):c.6085del (p.Glu2029fs)
|
rs1555284533
|
|
NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs)
|
rs587782717
|
|
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.6121dup (p.Ser2041fs)
|
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs)
|
rs80359561
|
|
NM_000059.4(BRCA2):c.612dup (p.Ser205Ter)
|
|
|
NM_000059.4(BRCA2):c.6136dup (p.Ser2046fs)
|
|
|
NM_000059.4(BRCA2):c.6137C>G (p.Ser2046Ter)
|
|
|
NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter)
|
rs1466688245
|
|
NM_000059.4(BRCA2):c.6151_6152del (p.Asn2051fs)
|
rs886038141
|
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
rs786202461
|
|
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)
|
rs786202461
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
NM_000059.4(BRCA2):c.6187_6197del (p.Gly2063fs)
|
rs1555284584
|
|
NM_000059.4(BRCA2):c.6201del (p.Ile2068fs)
|
rs80359565
|
|
NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs)
|
rs397507833
|
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
rs80358859
|
|
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)
|
rs276174866
|
|
NM_000059.4(BRCA2):c.6211del (p.Ser2071fs)
|
rs431825338
|
|
NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)
|
rs80359567
|
|
NM_000059.4(BRCA2):c.6223A>T (p.Lys2075Ter)
|
rs1555284602
|
|
NM_000059.4(BRCA2):c.6223_6227del (p.His2074_Lys2075insTer)
|
|
|
NM_000059.4(BRCA2):c.6225dup (p.Val2076fs)
|
rs886040641
|
|
NM_000059.4(BRCA2):c.6226_6229del (p.Val2076fs)
|
rs587782799
|
|
NM_000059.4(BRCA2):c.6227_6231del (p.Val2076fs)
|
|
|
NM_000059.4(BRCA2):c.622_626dup (p.Ile210fs)
|
|
|
NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter)
|
rs886040642
|
|
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
|
rs2072549980
|
|
NM_000059.4(BRCA2):c.6254T>A (p.Leu2085Ter)
|
|
|
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs)
|
rs1064794647
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
NM_000059.4(BRCA2):c.6267_6274del (p.Glu2089fs)
|
rs876658425
|
|
NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs)
|
rs80359571
|
|
NM_000059.4(BRCA2):c.6273_6274insA (p.Leu2092fs)
|
rs1064793860
|
|
NM_000059.4(BRCA2):c.6284C>G (p.Ser2095Ter)
|
rs1593908124
|
|
NM_000059.4(BRCA2):c.6297_6303delinsTCC (p.Arg2099fs)
|
rs1593908171
|
|
NM_000059.4(BRCA2):c.6304_6305del (p.Val2102fs)
|
rs886040648
|
|
NM_000059.4(BRCA2):c.6305dup (p.Ser2103fs)
|
rs1555284628
|
|
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)
|
rs80358870
|
|
NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter)
|
rs80358870
|
|
NM_000059.4(BRCA2):c.631+1G>A
|
rs81002897
|
|
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs)
|
rs886040649
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.6320del (p.Pro2107fs)
|
rs886040650
|
|
NM_000059.4(BRCA2):c.6327dup (p.Asp2110Ter)
|
rs1555284637
|
|
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)
|
rs587781470
|
|
NM_000059.4(BRCA2):c.6332dup (p.Arg2112fs)
|
rs876659617
|
|
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.6336_6340delinsTTT (p.Arg2112fs)
|
rs1555284643
|
|
NM_000059.4(BRCA2):c.6349dup (p.Cys2117fs)
|
rs587781566
|
|
NM_000059.4(BRCA2):c.6351T>A (p.Cys2117Ter)
|
rs876659368
|
|
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs)
|
rs80359576
|
|
NM_000059.4(BRCA2):c.6355_6357delinsT (p.Asn2119fs)
|
rs1555284649
|
|
NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter)
|
rs397507845
|
|
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.6367_6370dup (p.Lys2124fs)
|
rs786203430
|
|
NM_000059.4(BRCA2):c.6373_6374delinsG (p.Thr2125fs)
|
rs1555284655
|
|
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6379del (p.Ser2127fs)
|
rs1064795216
|
|
NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)
|
rs886040653
|
|
NM_000059.4(BRCA2):c.6387_6395delinsTTTA (p.Glu2129fs)
|
rs1593908459
|
|
NM_000059.4(BRCA2):c.6387del (p.Glu2129fs)
|
rs2137526963
|
|
NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter)
|
rs397507848
|
|
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.6393del (p.Lys2131fs)
|
rs886038145
|
|
NM_000059.4(BRCA2):c.6395T>G (p.Leu2132Ter)
|
rs1555284658
|
|
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)
|
rs431825342
|
|
NM_000059.4(BRCA2):c.6401_6404del (p.Asn2134fs)
|
rs80359583
|
|
NM_000059.4(BRCA2):c.6405_6408del (p.Asn2135fs)
|
rs398122556
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter)
|
rs149330893
|
|
NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer)
|
rs397507854
|
|
NM_000059.4(BRCA2):c.6434_6441del (p.Asn2145fs)
|
rs397507371
|
|
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs)
|
rs80359587
|
|
NM_000059.4(BRCA2):c.6444del (p.Ile2149fs)
|
rs398122557
|
|
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)
|
rs80359590
|
|
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)
|
rs80359592
|
|
NM_000059.4(BRCA2):c.6445_6446dup (p.Lys2150fs)
|
|
|
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs)
|
rs876660421
|
|
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.6447del (p.Val2151fs)
|
rs886040657
|
|
NM_000059.4(BRCA2):c.6449_6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6450del (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6458del (p.Pro2153fs)
|
rs786203660
|
|
NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter)
|
rs80358883
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468dup (p.Gln2157fs)
|
|
|
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter)
|
rs397507859
|
|
NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs)
|
rs1555284710
|
|
NM_000059.4(BRCA2):c.6475C>T (p.Gln2159Ter)
|
rs398122558
|
|
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)
|
rs886040658
|
|
NM_000059.4(BRCA2):c.6480del (p.Asp2161fs)
|
rs1064793471
|
|
NM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs)
|
rs886039319
|
|
NM_000059.4(BRCA2):c.6484A>T (p.Lys2162Ter)
|
rs1555284717
|
|
NM_000059.4(BRCA2):c.6485_6487delinsGACA (p.Lys2162fs)
|
|
|
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.6490C>T (p.Gln2164Ter)
|
rs397507860
|
|
NM_000059.4(BRCA2):c.6490del (p.Gln2164fs)
|
rs80359599
|
|
NM_000059.4(BRCA2):c.6491del (p.Gln2164fs)
|
rs1135401914
|
|
NM_000059.4(BRCA2):c.6494del (p.Leu2165fs)
|
rs276174874
|
|
NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter)
|
rs886040660
|
|
NM_000059.4(BRCA2):c.6513_6514del (p.Ser2172fs)
|
rs1555284730
|
|
NM_000059.4(BRCA2):c.6514_6515del (p.Ser2172fs)
|
rs886040662
|
|
NM_000059.4(BRCA2):c.6516del (p.Val2174fs)
|
rs2072558268
|
|
NM_000059.4(BRCA2):c.6520_6525delinsTCCCA (p.Val2174fs)
|
|
|
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)
|
rs397507865
|
|
NM_000059.4(BRCA2):c.6531dup (p.His2178fs)
|
rs886040664
|
|
NM_000059.4(BRCA2):c.6532dup (p.His2178fs)
|
rs886037798
|
|
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)
|
rs80359601
|
|
NM_000059.4(BRCA2):c.6541G>T (p.Gly2181Ter)
|
rs371067421
|
|
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)
|
rs397507866
|
|
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.6601del (p.Ser2201fs)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6625dup (p.Ile2209fs)
|
rs886040670
|
|
NM_000059.4(BRCA2):c.6626_6627del (p.Ile2209fs)
|
rs80359610
|
|
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter)
|
rs80359610
|
|
NM_000059.4(BRCA2):c.6627_6634del (p.Ile2209fs)
|
rs397507870
|
|
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)
|
rs80359609
|
|
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs)
|
rs397507871
|
|
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
|
rs80359613
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter)
|
rs80359615
|
|
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)
|
rs80358892
|
|
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)
|
rs1555284779
|
|
NM_000059.4(BRCA2):c.6655dup (p.Ser2219fs)
|
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6662del (p.Asn2221fs)
|
rs1064794812
|
|
NM_000059.4(BRCA2):c.6663_6664insAAAG (p.Tyr2222fs)
|
rs786202157
|
|
NM_000059.4(BRCA2):c.666del (p.His223fs)
|
|
|
NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs)
|
rs80359619
|
|
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs)
|
rs1555284790
|
|
NM_000059.4(BRCA2):c.6682dup (p.Val2228fs)
|
rs80359621
|
|
NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter)
|
rs730881548
|
|
NM_000059.4(BRCA2):c.668del (p.His223fs)
|
rs876659261
|
|
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)
|
rs878853301
|
|
NM_000059.4(BRCA2):c.6699_6702dup (p.Met2235fs)
|
rs587781516
|
|
NM_000059.4(BRCA2):c.67+1G>A
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+1G>T
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+1del
|
rs886040931
|
|
NM_000059.4(BRCA2):c.6702del (p.Phe2234fs)
|
rs587781516
|
|
NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs)
|
rs587782667
|
|
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)
|
rs276174876
|
|
NM_000059.4(BRCA2):c.6723dup (p.Asp2242fs)
|
rs1555284827
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
NM_000059.4(BRCA2):c.6727_6728insAGT (p.Ser2243Ter)
|
|
|
NM_000059.4(BRCA2):c.6727del (p.Ser2243fs)
|
rs886039320
|
|
NM_000059.4(BRCA2):c.6727dup (p.Ser2243fs)
|
|
|
NM_000059.4(BRCA2):c.6739dup (p.Ser2247fs)
|
rs2137530289
|
|
NM_000059.4(BRCA2):c.6752del (p.His2251fs)
|
|
|
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.6777_6778del (p.Asn2259fs)
|
rs786204279
|
|
NM_000059.4(BRCA2):c.6781G>T (p.Glu2261Ter)
|
rs876660812
|
|
NM_000059.4(BRCA2):c.68-5A>G
|
rs1555280326
|
|
NM_000059.4(BRCA2):c.6809del (p.Gly2270fs)
|
rs80359625
|
|
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)
|
rs397507885
|
|
NM_000059.4(BRCA2):c.6815del (p.Arg2272fs)
|
|
|
NM_000059.4(BRCA2):c.6816_6817del (p.Gly2274fs)
|
rs397507886
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.682-1G>A
|
|
|
NM_000059.4(BRCA2):c.682-2A>C
|
rs878853287
|
|
NM_000059.4(BRCA2):c.682-2A>G
|
rs878853287
|
|
NM_000059.4(BRCA2):c.6828_6829insTAGAGCCC (p.Leu2277Ter)
|
|
|
NM_000059.4(BRCA2):c.6828_6831dup (p.Ile2278fs)
|
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
NM_000059.4(BRCA2):c.6836_6837delinsCTTTGTGGTAAGTTT (p.Leu2279delinsSerLeuTrpTer)
|
rs587781480
|
|
NM_000059.4(BRCA2):c.6842-587_7007+2347dup
|
|
|
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)
|
rs1566236904
|
|
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)
|
rs80358913
|
|
NM_000059.4(BRCA2):c.6937+90_7008-2768dup
|
|
|
NM_000059.4(BRCA2):c.6941dup (p.Ile2315fs)
|
rs1593913171
|
|
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.696_697delinsC (p.Ser234fs)
|
|
|
NM_000059.4(BRCA2):c.6975_6976del (p.Ser2326fs)
|
rs886040679
|
|
NM_000059.4(BRCA2):c.6981_7005del (p.Leu2327fs)
|
rs1555285350
|
|
NM_000059.4(BRCA2):c.6987_6989delinsTGTG (p.Ile2330fs)
|
rs1555285358
|
|
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs)
|
rs80359631
|
|
NM_000059.4(BRCA2):c.6990dup (p.Thr2331fs)
|
rs876658789
|
|
NM_000059.4(BRCA2):c.6997_6998del (p.Val2333fs)
|
rs1593913331
|
|
NM_000059.4(BRCA2):c.6997_6998dup (p.Pro2334fs)
|
rs1593913331
|
|
NM_000059.4(BRCA2):c.7002del (p.Arg2336fs)
|
rs869040376
|
|
NM_000059.4(BRCA2):c.7004_7007+2del
|
rs397507890
|
|
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.7008-2A>G
|
rs81002823
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
NM_000059.4(BRCA2):c.700del (p.Ser234fs)
|
rs80359630
|
|
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.7026del (p.Glu2343fs)
|
rs786203546
|
|
NM_000059.4(BRCA2):c.7030del (p.Ile2344fs)
|
|
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
rs886040685
|
|
NM_000059.4(BRCA2):c.7036_7039del (p.Asn2346fs)
|
|
|
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.7089T>G (p.Tyr2363Ter)
|
|
|
NM_000059.4(BRCA2):c.7090G>T (p.Glu2364Ter)
|
rs80358940
|
|
NM_000059.4(BRCA2):c.7093del (p.His2365fs)
|
|
|
NM_000059.4(BRCA2):c.7097del (p.Leu2366fs)
|
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7103del (p.Leu2368fs)
|
|
|
NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)
|
rs80358943
|
|
NM_000059.4(BRCA2):c.7117_7121del (p.Ser2373fs)
|
|
|
NM_000059.4(BRCA2):c.7126_7127del (p.Ala2376fs)
|
rs2137556120
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
NM_000059.4(BRCA2):c.7142del (p.Pro2381fs)
|
rs398122576
|
|
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs)
|
rs276174890
|
|
NM_000059.4(BRCA2):c.715del (p.Ser239fs)
|
rs431825350
|
|
NM_000059.4(BRCA2):c.716del (p.Ser239fs)
|
|
|
NM_000059.4(BRCA2):c.7177dup (p.Met2393fs)
|
rs397507899
|
|
NM_000059.4(BRCA2):c.7183del (p.His2395fs)
|
rs397507900
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer)
|
rs80359637
|
|
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)
|
rs397507903
|
|
NM_000059.4(BRCA2):c.71dup (p.Leu24fs)
|
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)
|
rs876659770
|
|
NM_000059.4(BRCA2):c.7210A>T (p.Lys2404Ter)
|
rs886040691
|
|
NM_000059.4(BRCA2):c.7211_7212del (p.Lys2404fs)
|
rs80359642
|
|
NM_000059.4(BRCA2):c.7211_7212delinsGGTT (p.Lys2404fs)
|
|
|
NM_000059.4(BRCA2):c.7218dup (p.Val2407fs)
|
rs876659345
|
|
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)
|
rs876659100
|
|
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)
|
rs1555286052
|
|
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)
|
rs80358951
|
|
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.7258G>T (p.Glu2420Ter)
|
rs397507385
|
|
NM_000059.4(BRCA2):c.7279_7283del (p.Asn2427fs)
|
rs1555286065
|
|
NM_000059.4(BRCA2):c.728_729del (p.Asn243fs)
|
rs1593890204
|
|
NM_000059.4(BRCA2):c.728del (p.Asn243fs)
|
rs886040697
|
|
NM_000059.4(BRCA2):c.728dup (p.Asn243fs)
|
rs886040697
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
NM_000059.4(BRCA2):c.729del (p.Asn243fs)
|
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
NM_000059.4(BRCA2):c.7309del (p.Ile2437fs)
|
rs886040699
|
|
NM_000059.4(BRCA2):c.732_733dup (p.Arg245fs)
|
|
|
NM_000059.4(BRCA2):c.733del (p.Arg245fs)
|
rs876658927
|
|
NM_000059.4(BRCA2):c.7341_7342del (p.Asn2447fs)
|
rs876660563
|
|
NM_000059.4(BRCA2):c.7342_7343del (p.Lys2448fs)
|
rs397507386
|
|
NM_000059.4(BRCA2):c.7356_7375delinsAACAGTTTAAC (p.Asn2452_Lys2459delinsLysThrValTer)
|
|
|
NM_000059.4(BRCA2):c.7360del (p.Ile2454fs)
|
rs80359646
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter)
|
rs397507913
|
|
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs)
|
rs80359647
|
|
NM_000059.4(BRCA2):c.7379_7382del (p.Asn2460fs)
|
rs80359648
|
|
NM_000059.4(BRCA2):c.7390C>T (p.Gln2464Ter)
|
rs572945276
|
|
NM_000059.4(BRCA2):c.7393del (p.Ala2465fs)
|
rs1593918565
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
NM_000059.4(BRCA2):c.7412_7421del (p.Thr2471fs)
|
rs80359649
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7417_7418insTC (p.Cys2473fs)
|
|
|
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)
|
rs1555286120
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)
|
rs1566241336
|
|
NM_000059.4(BRCA2):c.7443del (p.Thr2482fs)
|
rs80359652
|
|
NM_000059.4(BRCA2):c.7453C>T (p.Gln2485Ter)
|
rs1593919442
|
|
NM_000059.4(BRCA2):c.7459_7484del (p.Asn2486_Ala2487insTer)
|
rs1064795884
|
|
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
|
rs80358971
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)
|
rs80359654
|
|
NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter)
|
rs876660447
|
|
NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter)
|
rs886040711
|
|
NM_000059.4(BRCA2):c.7510_7513dup (p.Pro2505fs)
|
rs1566241990
|
|
NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter)
|
rs876658631
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7528_7531dup (p.Tyr2511fs)
|
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
NM_000059.4(BRCA2):c.7530_7531del (p.Tyr2511fs)
|
rs886040715
|
|
NM_000059.4(BRCA2):c.7538del (p.Ala2513fs)
|
rs397507919
|
|
NM_000059.4(BRCA2):c.7540_7549del (p.Lys2514fs)
|
rs1593919707
|
|
NM_000059.4(BRCA2):c.7543del (p.Thr2515fs)
|
rs80359657
|
|
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)
|
rs80359657
|
|
NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs)
|
rs80359660
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs)
|
rs80359664
|
|
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)
|
rs1566242125
|
|
NM_000059.4(BRCA2):c.756_757del (p.Asp252fs)
|
rs80359662
|
|
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)
|
rs1555286291
|
|
NM_000059.4(BRCA2):c.7575del (p.Ala2526fs)
|
rs869320797
|
|
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs)
|
rs1555286296
|
|
NM_000059.4(BRCA2):c.7595_7596insTT (p.Ala2534fs)
|
rs80359666
|
|
NM_000059.4(BRCA2):c.759del (p.Ser253fs)
|
|
|
NM_000059.4(BRCA2):c.7602del (p.Cys2535fs)
|
rs876658470
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7617+1G>C
|
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.7618-2_7643delinsGTGTTATTTTGTTTTATT
|
|
|
NM_000059.4(BRCA2):c.7626_7637delinsT (p.Thr2542_Tyr2543insTer)
|
rs1555286388
|
|
NM_000059.4(BRCA2):c.7629T>A (p.Tyr2543Ter)
|
rs1064794521
|
|
NM_000059.4(BRCA2):c.7631del (p.Gly2544fs)
|
rs886040722
|
|
NM_000059.4(BRCA2):c.7641del (p.Lys2547fs)
|
rs2137566280
|
|
NM_000059.4(BRCA2):c.7643_7644del (p.His2548fs)
|
rs886040724
|
|
NM_000059.4(BRCA2):c.7654dup (p.Ile2552fs)
|
rs879255463
|
|
NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs)
|
rs80359669
|
|
NM_000059.4(BRCA2):c.7658del (p.Asn2553fs)
|
rs2072708512
|
|
NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs)
|
rs878853303
|
|
NM_000059.4(BRCA2):c.7671del (p.Glu2558fs)
|
rs397507928
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
NM_000059.4(BRCA2):c.7673del (p.Glu2558fs)
|
rs878853605
|
|
NM_000059.4(BRCA2):c.7676_7677del (p.Ser2559fs)
|
rs1593920773
|
|
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs)
|
rs80359670
|
|
NM_000059.4(BRCA2):c.7680dup (p.Gln2561fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
rs80358994
|
|
NM_000059.4(BRCA2):c.7689del (p.His2563fs)
|
rs80359674
|
|
NM_000059.4(BRCA2):c.7701T>A (p.Tyr2567Ter)
|
rs1555286423
|
|
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter)
|
rs1555286423
|
|
NM_000059.4(BRCA2):c.7704dup (p.Gly2569fs)
|
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
NM_000059.4(BRCA2):c.7718T>G (p.Leu2573Ter)
|
rs786203680
|
|
NM_000059.4(BRCA2):c.7719dup (p.Trp2574fs)
|
rs80359676
|
|
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.7731del (p.Gly2578fs)
|
rs2072710066
|
|
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter)
|
rs1593920920
|
|
NM_000059.4(BRCA2):c.7734_7744del (p.Gly2578_Ile2579insTer)
|
|
|
NM_000059.4(BRCA2):c.7739dup (p.Leu2581fs)
|
rs1593920939
|
|
NM_000059.4(BRCA2):c.774_777del (p.Arg259fs)
|
rs1555281477
|
|
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)
|
rs80359004
|
|
NM_000059.4(BRCA2):c.775del (p.Arg259fs)
|
rs75096777
|
|
NM_000059.4(BRCA2):c.7762_7764delinsCC (p.Ile2588fs)
|
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)
|
rs80359679
|
|
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)
|
rs587782028
|
|
NM_000059.4(BRCA2):c.7787G>T (p.Gly2596Val)
|
rs1064795140
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)
|
rs1135401919
|
|
NM_000059.4(BRCA2):c.7795G>T (p.Glu2599Ter)
|
rs41293509
|
|
NM_000059.4(BRCA2):c.7805+1G>A
|
rs81002809
|
|
NM_000059.4(BRCA2):c.7806-1G>A
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-1G>T
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro)
|
rs431825357
|
|
NM_000059.4(BRCA2):c.7815_7816del (p.Cys2605_Asp2606delinsTer)
|
rs886040730
|
|
NM_000059.4(BRCA2):c.7816_7819dup (p.Thr2607fs)
|
rs80359684
|
|
NM_000059.4(BRCA2):c.7833_7843delinsG (p.Asp2611fs)
|
rs1555286828
|
|
NM_000059.4(BRCA2):c.7833_7847delinsGTTTA (p.Asp2611fs)
|
rs2072744986
|
|
NM_000059.4(BRCA2):c.7835_7838dup (p.Lys2613fs)
|
|
|
NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs)
|
rs886040867
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
NM_000059.4(BRCA2):c.7855T>G (p.Trp2619Gly)
|
|
|
NM_000059.4(BRCA2):c.7855dup (p.Trp2619fs)
|
rs587781665
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7865dup (p.Asn2622fs)
|
rs886040732
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7875dup (p.Trp2626fs)
|
rs1593924059
|
|
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)
|
rs1060502459
|
|
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)
|
rs587781506
|
|
NM_000059.4(BRCA2):c.7878G>T (p.Trp2626Cys)
|
|
|
NM_000059.4(BRCA2):c.7878del (p.Arg2625_Trp2626insTer)
|
rs1555286842
|
|
NM_000059.4(BRCA2):c.7887G>A (p.Trp2629Ter)
|
rs886040734
|
|
NM_000059.4(BRCA2):c.7900del (p.Met2634fs)
|
rs1566244864
|
|
NM_000059.4(BRCA2):c.7902_7903delinsTT (p.Met2634_Glu2635delinsIleTer)
|
rs1593924144
|
|
NM_000059.4(BRCA2):c.7907del (p.Cys2636fs)
|
|
|
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.7940T>C (p.Leu2647Pro)
|
rs80359021
|
|
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)
|
rs863224828
|
|
NM_000059.4(BRCA2):c.7954del (p.Val2652fs)
|
rs80359689
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7964_7965del (p.Gln2655fs)
|
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
NM_000059.4(BRCA2):c.7976+1G>A
|
rs81002873
|
|
NM_000059.4(BRCA2):c.7976+1G>T
|
rs81002873
|
|
NM_000059.4(BRCA2):c.7976+2C>G
|
rs886040943
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs)
|
rs1555286933
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.7999del (p.Ser2667fs)
|
rs1064795578
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
NM_000059.4(BRCA2):c.7dup (p.Ile3fs)
|
rs1555280093
|
|
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)
|
rs276174900
|
|
NM_000059.4(BRCA2):c.8009C>A (p.Ser2670Ter)
|
rs80359035
|
|
NM_000059.4(BRCA2):c.8009del (p.Ser2670fs)
|
rs876659606
|
|
NM_000059.4(BRCA2):c.8021del (p.Lys2674fs)
|
rs397507952
|
|
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)
|
rs397507952
|
|
NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)
|
rs80359691
|
|
NM_000059.4(BRCA2):c.8042_8043del (p.Thr2681fs)
|
rs276174901
|
|
NM_000059.4(BRCA2):c.8043del (p.Ala2682fs)
|
|
|
NM_000059.4(BRCA2):c.8047_8054dup (p.Leu2686fs)
|
rs397507957
|
|
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs)
|
rs397507958
|
|
NM_000059.4(BRCA2):c.8055_8056del (p.Leu2686fs)
|
rs1593924968
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
NM_000059.4(BRCA2):c.8058del (p.Val2687fs)
|
rs80359692
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
NM_000059.4(BRCA2):c.8068_8069del (p.Val2690fs)
|
rs80359694
|
|
NM_000059.4(BRCA2):c.8072_8073del (p.Val2690_Ser2691insTer)
|
rs397507963
|
|
NM_000059.4(BRCA2):c.8084C>G (p.Ser2695Ter)
|
rs80359048
|
|
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
|
rs80359050
|
|
NM_000059.4(BRCA2):c.809C>A (p.Ser270Ter)
|
|
|
NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter)
|
rs276174902
|
|
NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer)
|
rs1555287001
|
|
NM_000059.4(BRCA2):c.8111delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser2704Ter)
|
rs1593925106
|
|
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs)
|
rs80359696
|
|
NM_000059.4(BRCA2):c.8130dup (p.Ala2711fs)
|
|
|
NM_000059.4(BRCA2):c.813del (p.Asn272fs)
|
rs1555281599
|
|
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)
|
rs863224469
|
|
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)
|
rs1135401923
|
|
NM_000059.4(BRCA2):c.8157del (p.Ile2719fs)
|
|
|
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs)
|
rs2137581286
|
|
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)
|
rs730881581
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
rs397507965
|
|
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter)
|
rs80359068
|
|
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)
|
rs397507966
|
|
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)
|
rs397507967
|
|
NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer)
|
rs398122599
|
|
NM_000059.4(BRCA2):c.8205_8206del (p.Leu2737fs)
|
rs397507396
|
|
NM_000059.4(BRCA2):c.8225_8226del (p.Asn2742fs)
|
|
|
NM_000059.4(BRCA2):c.8230dup (p.Arg2744fs)
|
|
|
NM_000059.4(BRCA2):c.8234_8237del (p.Leu2745fs)
|
rs80359699
|
|
NM_000059.4(BRCA2):c.8234dup (p.Thr2746fs)
|
rs276174903
|
|
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.8265_8275del (p.Ala2756fs)
|
|
|
NM_000059.4(BRCA2):c.8268del (p.Glu2757fs)
|
rs1593925596
|
|
NM_000059.4(BRCA2):c.8276_8279del (p.Val2759fs)
|
rs886040753
|
|
NM_000059.4(BRCA2):c.8285del (p.Pro2762fs)
|
rs397507972
|
|
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs)
|
rs398122601
|
|
NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter)
|
rs397507975
|
|
NM_000059.4(BRCA2):c.831del (p.Asn277fs)
|
rs1555281604
|
|
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs)
|
rs80359706
|
|
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)
|
rs276174904
|
|
NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter)
|
rs886037818
|
|
NM_000059.4(BRCA2):c.8332-1G>T
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs)
|
|
|
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)
|
rs80359707
|
|
NM_000059.4(BRCA2):c.8342del (p.Asn2781fs)
|
|
|
NM_000059.4(BRCA2):c.834del (p.Cys279fs)
|
rs876658861
|
|
NM_000059.4(BRCA2):c.8350del (p.Arg2784fs)
|
rs1566248664
|
|
NM_000059.4(BRCA2):c.8356del (p.Ala2786fs)
|
rs876660043
|
|
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.8374_8384delinsAGG (p.Leu2792fs)
|
rs886040766
|
|
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8393_8396dup (p.Arg2799delinsSerTer)
|
rs886040768
|
|
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
|
rs276174907
|
|
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs)
|
rs483353077
|
|
NM_000059.4(BRCA2):c.8405del (p.Pro2802fs)
|
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
NM_000059.4(BRCA2):c.8419_8428del (p.Ser2807fs)
|
rs869312760
|
|
NM_000059.4(BRCA2):c.841_847del (p.Asp281fs)
|
rs1593891249
|
|
NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter)
|
rs55763607
|
|
NM_000059.4(BRCA2):c.8426del (p.Phe2809fs)
|
rs1555287643
|
|
NM_000059.4(BRCA2):c.8433_8632+531dup
|
|
|
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.846_847del (p.Ile283fs)
|
rs886040776
|
|
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)
|
rs886040778
|
|
NM_000059.4(BRCA2):c.8474_8487del (p.Ala2825fs)
|
rs1566248946
|
|
NM_000059.4(BRCA2):c.8474del (p.Ala2825fs)
|
rs80359711
|
|
NM_000059.4(BRCA2):c.8480del (p.Pro2827fs)
|
|
|
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+1G>T
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
NM_000059.4(BRCA2):c.8494G>T (p.Glu2832Ter)
|
rs876658951
|
|
NM_000059.4(BRCA2):c.8497A>T (p.Lys2833Ter)
|
rs1555287732
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)
|
rs80359102
|
|
NM_000059.4(BRCA2):c.8505del (p.Ser2836fs)
|
rs80359713
|
|
NM_000059.4(BRCA2):c.8517C>A (p.Tyr2839Ter)
|
rs863224315
|
|
NM_000059.4(BRCA2):c.8518del (p.Ile2840fs)
|
rs886040780
|
|
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.8546del (p.Lys2849fs)
|
rs397507991
|
|
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.8562T>A (p.Tyr2854Ter)
|
rs786201333
|
|
NM_000059.4(BRCA2):c.8566_8567delinsC (p.Glu2856fs)
|
rs869320798
|
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
rs80359115
|
|
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)
|
rs1131692035
|
|
NM_000059.4(BRCA2):c.857_860dup (p.Met287fs)
|
rs876660385
|
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
rs398122608
|
|
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs)
|
rs80359720
|
|
NM_000059.4(BRCA2):c.8587dup (p.Glu2863fs)
|
|
|
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)
|
rs80359721
|
|
NM_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter)
|
rs587782010
|
|
NM_000059.4(BRCA2):c.8614G>T (p.Glu2872Ter)
|
|
|
NM_000059.4(BRCA2):c.8622del (p.Glu2875fs)
|
|
|
NM_000059.4(BRCA2):c.8623del (p.Glu2875fs)
|
|
|
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter)
|
rs80359121
|
|
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs)
|
rs886038184
|
|
NM_000059.4(BRCA2):c.8639_8643del (p.Thr2880fs)
|
rs2137612282
|
|
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)
|
rs397508000
|
|
NM_000059.4(BRCA2):c.8646del (p.Lys2882fs)
|
rs886040785
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
NM_000059.4(BRCA2):c.8676del (p.Arg2892fs)
|
rs80359725
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs)
|
rs397507410
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
NM_000059.4(BRCA2):c.8697_8721del (p.Gln2899_Asp2900insTer)
|
|
|
NM_000059.4(BRCA2):c.8707G>T (p.Glu2903Ter)
|
rs1555288166
|
|
NM_000059.4(BRCA2):c.8715T>G (p.Tyr2905Ter)
|
|
|
NM_000059.4(BRCA2):c.8724del (p.Lys2909fs)
|
rs1555288172
|
|
NM_000059.4(BRCA2):c.8725_8731del (p.Lys2909fs)
|
|
|
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+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-1G>T
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-1_8776dup
|
rs1593936490
|
|
NM_000059.4(BRCA2):c.8755-2A>T
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer)
|
rs1593936493
|
|
NM_000059.4(BRCA2):c.8761_8767del (p.Phe2921fs)
|
rs1593936506
|
|
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.8777T>G (p.Leu2926Ter)
|
rs886040791
|
|
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)
|
rs2072898210
|
|
NM_000059.4(BRCA2):c.8805_8806dup (p.Leu2936fs)
|
rs1593936593
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.8818_8824del (p.Lys2940fs)
|
rs1555288379
|
|
NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)
|
rs397508012
|
|
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.8848delinsCT (p.Lys2950fs)
|
rs276174912
|
|
NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs)
|
rs886040796
|
|
NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter)
|
rs775261666
|
|
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)
|
rs276174913
|
|
NM_000059.4(BRCA2):c.8873del (p.Lys2958fs)
|
rs1593936782
|
|
NM_000059.4(BRCA2):c.8873dup (p.Glu2959fs)
|
rs1593936782
|
|
NM_000059.4(BRCA2):c.8875G>T (p.Glu2959Ter)
|
rs786202920
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.887del (p.Tyr296fs)
|
|
|
NM_000059.4(BRCA2):c.888T>A (p.Tyr296Ter)
|
rs876659359
|
|
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)
|
rs397508017
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
NM_000059.4(BRCA2):c.8900del (p.Thr2967fs)
|
rs1566252738
|
|
NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)
|
rs864622735
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.8915del (p.Leu2972fs)
|
rs397508019
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
NM_000059.4(BRCA2):c.8923_8950del (p.Val2975fs)
|
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.892del (p.Thr298fs)
|
|
|
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)
|
rs869320799
|
|
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)
|
rs886040801
|
|
NM_000059.4(BRCA2):c.8940dup (p.Glu2981fs)
|
rs80359732
|
|
NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)
|
rs139052578
|
|
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)
|
rs1593936980
|
|
NM_000059.4(BRCA2):c.8945_8946del (p.Lys2982fs)
|
rs80359733
|
|
NM_000059.4(BRCA2):c.8946dup (p.Asp2983fs)
|
rs80359733
|
|
NM_000059.4(BRCA2):c.8948_8953+5del
|
rs276174915
|
|
NM_000059.4(BRCA2):c.8950del (p.Ser2984fs)
|
rs397508022
|
|
NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)
|
rs80359146
|
|
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)
|
rs80359146
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8953+2T>G
|
rs886040947
|
|
NM_000059.4(BRCA2):c.8954-1_8955delinsAA
|
rs276174916
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)
|
rs80359148
|
|
NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter)
|
rs80359149
|
|
NM_000059.4(BRCA2):c.8970del (p.Trp2990fs)
|
|
|
NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter)
|
rs397508025
|
|
NM_000059.4(BRCA2):c.8978_8991del (p.Ser2993fs)
|
rs397508026
|
|
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs)
|
rs1555288449
|
|
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)
|
rs864622200
|
|
NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)
|
rs397508027
|
|
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter)
|
rs397508028
|
|
NM_000059.4(BRCA2):c.8996dup (p.Leu3000fs)
|
rs786202353
|
|
NM_000059.4(BRCA2):c.8999T>G (p.Leu3000Ter)
|
rs80359151
|
|
NM_000059.4(BRCA2):c.899dup (p.Asp301fs)
|
|
|
NM_000059.4(BRCA2):c.9014_9015del (p.Arg3005fs)
|
rs876661023
|
|
NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs)
|
rs80359739
|
|
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.9025del (p.Tyr3009fs)
|
rs786203575
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
NM_000059.4(BRCA2):c.9054_9055del (p.Ser3018fs)
|
rs80359743
|
|
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=)
|
rs1799956
|
|
NM_000059.4(BRCA2):c.9057del (p.Lys3019fs)
|
rs80359744
|
|
NM_000059.4(BRCA2):c.9061G>T (p.Glu3021Ter)
|
|
|
NM_000059.4(BRCA2):c.9064del (p.Arg3022fs)
|
|
|
NM_000059.4(BRCA2):c.9069_9076del (p.Asn3024fs)
|
rs80359746
|
|
NM_000059.4(BRCA2):c.906del (p.Ser303fs)
|
rs397508033
|
|
NM_000059.4(BRCA2):c.906dup (p.Ser303fs)
|
|
|
NM_000059.4(BRCA2):c.9074_9077del (p.Ile3025fs)
|
rs2137623320
|
|
NM_000059.4(BRCA2):c.9075dup (p.Gln3026fs)
|
rs2072910192
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
NM_000059.4(BRCA2):c.9092_9111del (p.Lys3031fs)
|
|
|
NM_000059.4(BRCA2):c.9093_9094delinsG (p.Thr3033fs)
|
rs876660532
|
|
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.9100C>T (p.Gln3034Ter)
|
rs80359163
|
|
NM_000059.4(BRCA2):c.9103dup (p.Tyr3035fs)
|
rs1555288507
|
|
NM_000059.4(BRCA2):c.9105_9106delinsCAAAAAA (p.Gln3036fs)
|
|
|
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)
|
rs397508037
|
|
NM_000059.4(BRCA2):c.910G>T (p.Glu304Ter)
|
rs1593891461
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)
|
rs398122610
|
|
NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs)
|
rs2072912874
|
|
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.9157del (p.Glu3053fs)
|
rs80359750
|
|
NM_000059.4(BRCA2):c.917_920del (p.Asp306fs)
|
rs1555281630
|
|
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)
|
rs80359175
|
|
NM_000059.4(BRCA2):c.9183dup (p.Asp3062fs)
|
rs1555288544
|
|
NM_000059.4(BRCA2):c.9194_9195del (p.Phe3065fs)
|
rs587782378
|
|
NM_000059.4(BRCA2):c.9194_9195insA (p.Phe3065fs)
|
rs1555288549
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
NM_000059.4(BRCA2):c.9219_9228del (p.Ile3075fs)
|
rs1555288559
|
|
NM_000059.4(BRCA2):c.9225dup (p.Gly3076fs)
|
rs1555288564
|
|
NM_000059.4(BRCA2):c.9226G>T (p.Gly3076Ter)
|
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs)
|
rs397508040
|
|
NM_000059.4(BRCA2):c.9233del (p.Val3078fs)
|
rs876660599
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter)
|
rs80359190
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)
|
rs1555288587
|
|
NM_000059.4(BRCA2):c.9256+1G>A
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-2_9261dup
|
rs886040953
|
|
NM_000059.4(BRCA2):c.9257-5_9278del
|
rs587781648
|
|
NM_000059.4(BRCA2):c.9262del (p.Ala3088fs)
|
rs786203843
|
|
NM_000059.4(BRCA2):c.926dup (p.Leu310fs)
|
rs1555281638
|
|
NM_000059.4(BRCA2):c.9270_9288del (p.Tyr3092fs)
|
|
|
NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs)
|
rs397507424
|
|
NM_000059.4(BRCA2):c.9275_9276del (p.Tyr3092fs)
|
rs397508043
|
|
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)
|
rs80359197
|
|
NM_000059.4(BRCA2):c.9278del (p.Leu3093fs)
|
rs876658643
|
|
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly)
|
rs1060502443
|
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
rs80359198
|
|
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)
|
rs80359199
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)
|
rs80359200
|
|
NM_000059.4(BRCA2):c.929T>A (p.Leu310Ter)
|
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.930_931del (p.Cys311fs)
|
rs80359755
|
|
NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter)
|
rs1555289521
|
|
NM_000059.4(BRCA2):c.9310_9311del (p.Lys3104fs)
|
rs80359756
|
|
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)
|
rs80359205
|
|
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter)
|
rs771203198
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
NM_000059.4(BRCA2):c.9330dup (p.Glu3111Ter)
|
rs1555289529
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
NM_000059.4(BRCA2):c.9335dup (p.Asp3112fs)
|
|
|
NM_000059.4(BRCA2):c.9350del (p.His3117fs)
|
rs886040832
|
|
NM_000059.4(BRCA2):c.9351dup (p.Met3118fs)
|
rs886040833
|
|
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs)
|
rs786203318
|
|
NM_000059.4(BRCA2):c.9356T>A (p.Leu3119Ter)
|
rs80359207
|
|
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)
|
rs80359207
|
|
NM_000059.4(BRCA2):c.9357_9360del (p.Ile3120fs)
|
rs886040836
|
|
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.9395_9405delinsCTTTATTTG (p.Lys3132fs)
|
|
|
NM_000059.4(BRCA2):c.93del (p.Trp31fs)
|
|
|
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)
|
rs80359759
|
|
NM_000059.4(BRCA2):c.9409_9412del (p.Thr3137fs)
|
rs876659211
|
|
NM_000059.4(BRCA2):c.940A>T (p.Lys314Ter)
|
rs1593891539
|
|
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)
|
rs876659435
|
|
NM_000059.4(BRCA2):c.9423dup (p.Asp3142fs)
|
rs1555289589
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9444del (p.Ser3149fs)
|
rs1593199940
|
|
NM_000059.4(BRCA2):c.9455_9456del (p.Glu3152fs)
|
rs80359764
|
|
NM_000059.4(BRCA2):c.9458del (p.Gly3153fs)
|
rs397508052
|
|
NM_000059.4(BRCA2):c.9463_9464insGAT (p.Phe3155Ter)
|
|
|
NM_000059.4(BRCA2):c.9473_9474dup (p.Phe3159fs)
|
|
|
NM_000059.4(BRCA2):c.9493dup (p.Thr3165fs)
|
|
|
NM_000059.4(BRCA2):c.949del (p.Thr317fs)
|
rs886040843
|
|
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)
|
rs80359769
|
|
NM_000059.4(BRCA2):c.9522_9523delinsAT (p.Asn3174_Glu3175delinsLysTer)
|
rs786202945
|
|
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)
|
rs397507430
|
|
NM_000059.4(BRCA2):c.9534del (p.Asn3178fs)
|
rs2073040366
|
|
NM_000059.4(BRCA2):c.9556_9567delinsAAGTGGTCCACCCCAACTA (p.Ala3186fs)
|
rs1555289777
|
|
NM_000059.4(BRCA2):c.955_958dup (p.Leu320fs)
|
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter)
|
rs398122617
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)
|
rs2073041280
|
|
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.959dup (p.Gln321fs)
|
|
|
NM_000059.4(BRCA2):c.9603del (p.Pro3202fs)
|
|
|
NM_000059.4(BRCA2):c.9610_9611del (p.Thr3204fs)
|
rs1555289791
|
|
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.966dup (p.Val323fs)
|
|
|
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)
|
rs80359774
|
|
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter)
|
rs2073049381
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)
|
rs755175776
|
|
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)
|
rs1593201677
|
|
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)
|
rs746413844
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.96del (p.Phe32fs)
|
|
|
NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs)
|
rs876660287
|
|
NM_000059.4(BRCA2):c.9728del (p.Pro3243fs)
|
rs730881618
|
|
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)
|
rs886040849
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
NM_000059.4(BRCA2):c.9749dup (p.Ser3252fs)
|
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)
|
rs587781772
|
|
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)
|
rs1593201815
|
|
NM_000059.4(BRCA2):c.9779_9780del (p.Asp3260fs)
|
rs1593201819
|
|
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)
|
rs886040851
|
|
NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs)
|
rs1566261027
|
|
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)
|
rs398122622
|
|
NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)
|
rs1555289966
|
|
NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)
|
rs886040854
|
|
NM_000059.4(BRCA2):c.987delinsCA (p.Arg329fs)
|
|
|
NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter)
|
rs1555290003
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000059.4(BRCA2):c.994_995del (p.Ile332fs)
|
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000059.4(BRCA2):c.994dup (p.Ile332fs)
|
rs80359777
|
|
NM_000059.4(BRCA2):c.998del (p.Phe333fs)
|
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
NM_000075.4(CDK4):c.71G>A (p.Arg24His)
|
rs104894340
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)
|
rs398123152
|
|
NM_000077.5(CDKN2A):c.122_123delinsT (p.Pro41fs)
|
|
|
NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter)
|
rs730881673
|
|
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter)
|
rs730881673
|
|
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.135dup (p.Arg46fs)
|
|
|
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr)
|
rs786204195
|
|
NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter)
|
rs864622636
|
|
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.151-1G>C
|
rs730881677
|
|
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)
|
rs104894109
|
|
NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter)
|
rs121913387
|
|
NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)
|
rs876658511
|
|
NM_000077.5(CDKN2A):c.185_196delinsA (p.Leu62fs)
|
|
|
NM_000077.5(CDKN2A):c.188T>C (p.Leu63Pro)
|
rs2131096164
|
|
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro)
|
rs1587332314
|
|
NM_000077.5(CDKN2A):c.19_22dup (p.Ser8fs)
|
|
|
NM_000077.5(CDKN2A):c.212del (p.Asn71fs)
|
rs876658220
|
|
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)
|
rs730881674
|
|
NM_000077.5(CDKN2A):c.228del (p.Thr77fs)
|
|
|
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.242C>G (p.Pro81Arg)
|
rs11552823
|
|
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln)
|
rs34968276
|
|
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)
|
rs34968276
|
|
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr)
|
rs11552822
|
|
NM_000077.5(CDKN2A):c.286del (p.Val96fs)
|
|
|
NM_000077.5(CDKN2A):c.299_303dup (p.Ala102fs)
|
|
|
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.340_343dup (p.Val115fs)
|
rs1554653976
|
|
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)
|
rs121913386
|
|
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.38_68del (p.Ala13fs)
|
|
|
NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)
|
rs876658556
|
|
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.47_50del (p.Leu16fs)
|
rs587782206
|
|
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter)
|
rs1554656411
|
|
NM_000077.5(CDKN2A):c.95_112del (p.Leu32_Leu37del)
|
rs1819949737
|
|
NM_000077.5(CDKN2A):c.97dup (p.Glu33fs)
|
|
|
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
|
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1173dup (p.Glu392Ter)
|
|
|
NM_000136.3(FANCC):c.1233dup (p.Leu412fs)
|
|
|
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
|
rs2134548133
|
|
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs)
|
rs1588353886
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)
|
rs730881710
|
|
NM_000136.3(FANCC):c.212T>A (p.Leu71Ter)
|
|
|
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)
|
rs1189888124
|
|
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
|
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)
|
rs1064793405
|
|
NM_000136.3(FANCC):c.341_342del (p.Ile114fs)
|
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
NM_000136.3(FANCC):c.381del (p.Phe127fs)
|
rs2135588524
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.3G>T (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
NM_000136.3(FANCC):c.517dup (p.Arg173fs)
|
|
|
NM_000136.3(FANCC):c.595del (p.Leu199fs)
|
rs1057519366
|
|
NM_000136.3(FANCC):c.595dup (p.Leu199fs)
|
rs1057519366
|
|
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
|
|
|
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)
|
rs374176091
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)
|
rs2136101386
|
|
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)
|
rs1588134571
|
|
NM_000136.3(FANCC):c.760del (p.Met254fs)
|
|
|
NM_000136.3(FANCC):c.836C>A (p.Ser279Ter)
|
rs1588134180
|
|
NM_000136.3(FANCC):c.843+1G>T
|
rs587779909
|
|
NM_000136.3(FANCC):c.863del (p.Pro288fs)
|
rs2134968283
|
|
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)
|
rs776529713
|
|
NM_000136.3(FANCC):c.954del (p.Phe318fs)
|
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
NM_000143.3(FH):c.556_557delAG
|
rs1131691235
|
|
NM_000143.4(FH):c.1000dup (p.Ser334fs)
|
rs1659853029
|
|
NM_000143.4(FH):c.1023T>G (p.Asp341Glu)
|
rs863223973
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1052C>A (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1052C>G (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1056dup (p.Leu353fs)
|
rs863224016
|
|
NM_000143.4(FH):c.1068del (p.Ile357fs)
|
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)
|
rs1659848371
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.1236+1G>C
|
rs1131691249
|
|
NM_000143.4(FH):c.1236+2T>G
|
|
|
NM_000143.4(FH):c.1237-2A>G
|
rs2147913407
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
NM_000143.4(FH):c.1247del (p.Val416fs)
|
rs2147913368
|
|
NM_000143.4(FH):c.1287del (p.Phe430fs)
|
rs1659746788
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1298dup (p.Asn433fs)
|
rs1573878071
|
|
NM_000143.4(FH):c.129_132+5delinsGAGC
|
|
|
NM_000143.4(FH):c.132G>A (p.Met44Ile)
|
rs863223982
|
|
NM_000143.4(FH):c.1339A>T (p.Lys447Ter)
|
rs863223977
|
|
NM_000143.4(FH):c.1347del (p.Met449fs)
|
rs1060500903
|
|
NM_000143.4(FH):c.1349_1352dup (p.Glu451_Ser452insTer)
|
rs863223990
|
|
NM_000143.4(FH):c.134del (p.Ala45fs)
|
rs1131691237
|
|
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)
|
rs863223992
|
|
NM_000143.4(FH):c.1391-1G>T
|
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1391-2A>G
|
rs863224008
|
|
NM_000143.4(FH):c.1391-2A>T
|
rs863224008
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.1413dup (p.Ala472fs)
|
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)
|
rs1131691245
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)
|
rs886041201
|
|
NM_000143.4(FH):c.1482del (p.Glu495fs)
|
|
|
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)
|
rs886039368
|
|
NM_000143.4(FH):c.1506dup (p.Pro503fs)
|
rs886041202
|
|
NM_000143.4(FH):c.157G>T (p.Glu53Ter)
|
rs863224013
|
|
NM_000143.4(FH):c.174_177dup (p.Leu60Ter)
|
rs1131691246
|
|
NM_000143.4(FH):c.175G>T (p.Glu59Ter)
|
rs1573888513
|
|
NM_000143.4(FH):c.201T>A (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)
|
rs1060500883
|
|
NM_000143.4(FH):c.204T>G (p.Tyr68Ter)
|
|
|
NM_000143.4(FH):c.211C>T (p.Gln71Ter)
|
|
|
NM_000143.4(FH):c.220A>T (p.Arg74Ter)
|
|
|
NM_000143.4(FH):c.237dup (p.Lys80Ter)
|
rs1553341945
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.243del (p.Ile81fs)
|
rs1573888356
|
|
NM_000143.4(FH):c.267+1G>A
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.273dup (p.Val92fs)
|
|
|
NM_000143.4(FH):c.295_301del (p.Leu99fs)
|
rs863224017
|
|
NM_000143.4(FH):c.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)
|
rs876658569
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.353del (p.Asn118fs)
|
rs1558401064
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.379-1G>A
|
rs1553341623
|
|
NM_000143.4(FH):c.379-2A>G
|
rs1131691240
|
|
NM_000143.4(FH):c.382dup (p.Ala128fs)
|
|
|
NM_000143.4(FH):c.385G>T (p.Glu129Ter)
|
|
|
NM_000143.4(FH):c.423del (p.Trp141fs)
|
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.431G>C (p.Gly144Ala)
|
|
|
NM_000143.4(FH):c.434C>G (p.Ser145Ter)
|
rs1573885482
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.551del (p.Ser184fs)
|
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.555+1_555+9del
|
|
|
NM_000143.4(FH):c.563del (p.Asn188fs)
|
rs1131691248
|
|
NM_000143.4(FH):c.566dup (p.Asp189fs)
|
|
|
NM_000143.4(FH):c.568_569del (p.Thr190fs)
|
rs1553341367
|
|
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)
|
rs1060499635
|
|
NM_000143.4(FH):c.624del (p.Leu208fs)
|
rs2147919608
|
|
NM_000143.4(FH):c.663dup (p.Ser222fs)
|
rs1573883195
|
|
NM_000143.4(FH):c.683TCA[1] (p.Ile229del)
|
|
|
NM_000143.4(FH):c.689A>G (p.Lys230Arg)
|
rs752232718
|
|
NM_000143.4(FH):c.697C>G (p.Arg233Gly)
|
rs587781682
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.704A>G (p.His235Arg)
|
rs1659990191
|
|
NM_000143.4(FH):c.722_738+3del
|
rs1064792900
|
|
NM_000143.4(FH):c.738G>A (p.Gln246=)
|
|
|
NM_000143.4(FH):c.739G>T (p.Glu247Ter)
|
rs1131691243
|
|
NM_000143.4(FH):c.757C>T (p.Gln253Ter)
|
rs1131691239
|
|
NM_000143.4(FH):c.763_767del (p.Val255fs)
|
|
|
NM_000143.4(FH):c.780_781del (p.Arg261fs)
|
rs1659924638
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.805del (p.Ile269fs)
|
rs1131691234
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.842C>T (p.Thr281Ile)
|
rs1573881633
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.937G>T (p.Glu313Ter)
|
rs863224001
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000143.4(FH):c.999C>A (p.Cys333Ter)
|
rs1553341031
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.3(MSH6):c.-1_46del (p.Met1fs)
|
|
|
NM_000179.3(MSH6):c.-1_6delinsACCT (p.Met1_Ser2delinsPro)
|
|
|
NM_000179.3(MSH6):c.1010_1011dup (p.Arg338Ter)
|
rs1572721251
|
|
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)
|
rs1114167804
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
|
rs1669287624
|
|
NM_000179.3(MSH6):c.103_113del (p.Ala35fs)
|
rs1572698011
|
|
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1045dup (p.Gln349fs)
|
|
|
NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs)
|
rs786202336
|
|
NM_000179.3(MSH6):c.1059dup (p.Gly354fs)
|
rs876658728
|
|
NM_000179.3(MSH6):c.1061del (p.Gly354fs)
|
|
|
NM_000179.3(MSH6):c.1071_1072insCA (p.Asp358fs)
|
|
|
NM_000179.3(MSH6):c.1081_1085del (p.Arg361fs)
|
|
|
NM_000179.3(MSH6):c.1093_1099dup (p.His367fs)
|
rs1572721655
|
|
NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)
|
rs1272484865
|
|
NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)
|
|
|
NM_000179.3(MSH6):c.1106del (p.Thr369fs)
|
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1109T>G (p.Leu370Ter)
|
|
|
NM_000179.3(MSH6):c.1113dup (p.Trp372fs)
|
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)
|
|
|
NM_000179.3(MSH6):c.1133_1134del (p.Arg378fs)
|
rs2104321566
|
|
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)
|
rs876660549
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1136del (p.Arg379fs)
|
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
NM_000179.3(MSH6):c.114del (p.Ala40fs)
|
rs1558644995
|
|
NM_000179.3(MSH6):c.114dup (p.Gly39fs)
|
|
|
NM_000179.3(MSH6):c.1159del (p.Asp387fs)
|
rs1669301838
|
|
NM_000179.3(MSH6):c.1162dup (p.His388fs)
|
|
|
NM_000179.3(MSH6):c.1167_1189dup (p.Tyr397fs)
|
|
|
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.1184_1190dup (p.Val398fs)
|
rs1572722017
|
|
NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs)
|
rs1572722039
|
|
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
|
|
|
NM_000179.3(MSH6):c.1188_1189insGA (p.Tyr397fs)
|
rs1572722080
|
|
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)
|
rs1553412609
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1190_1191dup (p.Val398fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)
|
|
|
NM_000179.3(MSH6):c.119delinsTT (p.Ala40fs)
|
|
|
NM_000179.3(MSH6):c.1200_1201insC (p.Asp401fs)
|
|
|
NM_000179.3(MSH6):c.1233del (p.Lys412fs)
|
|
|
NM_000179.3(MSH6):c.1233dup (p.Lys412fs)
|
rs2104329942
|
|
NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)
|
|
|
NM_000179.3(MSH6):c.1235del (p.Lys412fs)
|
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1239G>A (p.Trp413Ter)
|
|
|
NM_000179.3(MSH6):c.123_124del (p.Pro42fs)
|
|
|
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)
|
rs587779914
|
|
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
|
rs1007311950
|
|
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)
|
rs1114167756
|
|
NM_000179.3(MSH6):c.1248del (p.Lys417fs)
|
|
|
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter)
|
rs778555956
|
|
NM_000179.3(MSH6):c.1249_1252dup (p.Ser418Ter)
|
|
|
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)
|
rs1553412696
|
|
NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)
|
rs762814792
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
NM_000179.3(MSH6):c.1257_1258del (p.Asn420fs)
|
|
|
NM_000179.3(MSH6):c.1259del (p.Asn420fs)
|
|
|
NM_000179.3(MSH6):c.1263dup (p.Asp422Ter)
|
|
|
NM_000179.3(MSH6):c.1264del (p.Asp422fs)
|
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
NM_000179.3(MSH6):c.1270dup (p.Val424fs)
|
|
|
NM_000179.3(MSH6):c.1275_1276del (p.Ile425fs)
|
rs1114167774
|
|
NM_000179.3(MSH6):c.1276dup (p.Cys426fs)
|
|
|
NM_000179.3(MSH6):c.1279_1282del (p.Tyr427fs)
|
|
|
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu)
|
rs761822293
|
|
NM_000179.3(MSH6):c.1286del (p.Val429fs)
|
|
|
NM_000179.3(MSH6):c.1290del (p.Lys431fs)
|
rs587782809
|
|
NM_000179.3(MSH6):c.1291A>T (p.Lys431Ter)
|
|
|
NM_000179.3(MSH6):c.1298_1299del (p.Phe432_Tyr433insTer)
|
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299del (p.Phe432_Tyr433insTer)
|
rs1553412735
|
|
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
|
rs63751405
|
|
NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)
|
rs761037236
|
|
NM_000179.3(MSH6):c.1309dup (p.His437fs)
|
rs1558661308
|
|
NM_000179.3(MSH6):c.1315del (p.Asp439fs)
|
|
|
NM_000179.3(MSH6):c.1323_1324insCAAT (p.Ile442fs)
|
|
|
NM_000179.3(MSH6):c.1323dup (p.Ile442fs)
|
|
|
NM_000179.3(MSH6):c.1326del (p.Ile442fs)
|
rs1558661380
|
|
NM_000179.3(MSH6):c.1333_1334del (p.Val444_Ser445insTer)
|
rs1060502940
|
|
NM_000179.3(MSH6):c.1336G>T (p.Glu446Ter)
|
rs1669321230
|
|
NM_000179.3(MSH6):c.1339dup (p.Leu447fs)
|
rs2104337509
|
|
NM_000179.3(MSH6):c.1345del (p.Leu449fs)
|
|
|
NM_000179.3(MSH6):c.1345dup (p.Leu449fs)
|
rs2104337976
|
|
NM_000179.3(MSH6):c.1347_1372dup (p.His458delinsArgTyrSerTer)
|
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1365_1366del (p.Asn455fs)
|
|
|
NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)
|
rs587780538
|
|
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)
|
rs1572722737
|
|
NM_000179.3(MSH6):c.1369del (p.Ala457fs)
|
rs1572722732
|
|
NM_000179.3(MSH6):c.1372dup (p.His458fs)
|
|
|
NM_000179.3(MSH6):c.1377dup (p.Gly460fs)
|
|
|
NM_000179.3(MSH6):c.1383dup (p.Pro462fs)
|
rs1553412804
|
|
NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)
|
rs864622435
|
|
NM_000179.3(MSH6):c.1390del (p.Ile464fs)
|
|
|
NM_000179.3(MSH6):c.139del (p.Asp47fs)
|
|
|
NM_000179.3(MSH6):c.1406dup (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1407T>A (p.Tyr469Ter)
|
rs587781408
|
|
NM_000179.3(MSH6):c.1414_1456dup (p.Thr486delinsIleProGlyAlaGluGlyLeuTer)
|
|
|
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.1427_1433del (p.Lys476fs)
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
NM_000179.3(MSH6):c.1437_1446del (p.Val480fs)
|
rs2104343962
|
|
NM_000179.3(MSH6):c.1438_1443delinsCG (p.Val480fs)
|
rs1553412851
|
|
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)
|
rs1114167715
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1450del (p.Glu484fs)
|
|
|
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)
|
rs1114167750
|
|
NM_000179.3(MSH6):c.1468G>T (p.Glu490Ter)
|
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1492_1517dup (p.Asp506fs)
|
|
|
NM_000179.3(MSH6):c.1493del (p.Lys498fs)
|
|
|
NM_000179.3(MSH6):c.1498del (p.Ala500fs)
|
|
|
NM_000179.3(MSH6):c.150G>A (p.Trp50Ter)
|
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.151_167del (p.Ser51fs)
|
|
|
NM_000179.3(MSH6):c.151_167dup (p.Pro57fs)
|
rs1553408267
|
|
NM_000179.3(MSH6):c.1526del (p.Val509fs)
|
|
|
NM_000179.3(MSH6):c.1528_1529dup (p.Arg511fs)
|
|
|
NM_000179.3(MSH6):c.1533_1534insT (p.Glu512Ter)
|
|
|
NM_000179.3(MSH6):c.1542dup (p.Arg515Ter)
|
|
|
NM_000179.3(MSH6):c.1548_1549insT (p.Ile517fs)
|
|
|
NM_000179.3(MSH6):c.1549del (p.Ile517fs)
|
|
|
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)
|
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
NM_000179.3(MSH6):c.1572del (p.Thr523_Tyr524insTer)
|
|
|
NM_000179.3(MSH6):c.1577_1578dup (p.Leu527fs)
|
|
|
NM_000179.3(MSH6):c.1582G>T (p.Glu528Ter)
|
|
|
NM_000179.3(MSH6):c.1582del (p.Glu528fs)
|
|
|
NM_000179.3(MSH6):c.1588dup (p.Asp530fs)
|
|
|
NM_000179.3(MSH6):c.1590del (p.Ser532fs)
|
rs587779216
|
|
NM_000179.3(MSH6):c.1593del (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs)
|
rs1064794388
|
|
NM_000179.3(MSH6):c.159_171del (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)
|
|
|
NM_000179.3(MSH6):c.1607del (p.Ser536fs)
|
|
|
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter)
|
rs1572723640
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1612del (p.Tyr538fs)
|
|
|
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
|
rs1669352196
|
|
NM_000179.3(MSH6):c.1614T>G (p.Tyr538Ter)
|
rs63750870
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.1619_1620del (p.Leu540fs)
|
rs1553413006
|
|
NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs)
|
rs587779219
|
|
NM_000179.3(MSH6):c.1630G>T (p.Glu544Ter)
|
|
|
NM_000179.3(MSH6):c.1630_1633del (p.Glu544fs)
|
rs1572723723
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
NM_000179.3(MSH6):c.1635del (p.Glu546fs)
|
|
|
NM_000179.3(MSH6):c.1636G>T (p.Glu546Ter)
|
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
NM_000179.3(MSH6):c.1638_1639delinsA (p.Glu547fs)
|
|
|
NM_000179.3(MSH6):c.1639del (p.Glu547fs)
|
rs1572723786
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.1649_1671dup (p.Val558fs)
|
|
|
NM_000179.3(MSH6):c.1649del (p.Ser550fs)
|
|
|
NM_000179.3(MSH6):c.165_174del (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.165_178delinsC (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.1669_1670del (p.Gly557fs)
|
rs1114167800
|
|
NM_000179.3(MSH6):c.166_178del (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.1687dup (p.Thr563fs)
|
rs1572724019
|
|
NM_000179.3(MSH6):c.168_169del (p.Pro57fs)
|
|
|
NM_000179.3(MSH6):c.1690del (p.Ser564fs)
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)
|
rs63749973
|
|
NM_000179.3(MSH6):c.1697del (p.Gly566fs)
|
|
|
NM_000179.3(MSH6):c.1699A>T (p.Lys567Ter)
|
|
|
NM_000179.3(MSH6):c.1699_1703delinsTAC (p.Lys567fs)
|
|
|
NM_000179.3(MSH6):c.1700del (p.Lys567fs)
|
|
|
NM_000179.3(MSH6):c.1700dup (p.Phe568fs)
|
rs1553413074
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.1706dup (p.Ile570fs)
|
|
|
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
|
rs1669364351
|
|
NM_000179.3(MSH6):c.170_182del (p.Pro57fs)
|
rs876658296
|
|
NM_000179.3(MSH6):c.1712del (p.Gly571fs)
|
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter)
|
rs1669365820
|
|
NM_000179.3(MSH6):c.1729del (p.Arg577fs)
|
rs2104363773
|
|
NM_000179.3(MSH6):c.1754_1755delinsCT (p.Leu585Pro)
|
|
|
NM_000179.3(MSH6):c.1757_2229dup (p.Glu744delinsTrpHisThrIleProGlnTyrLysPheTyrLeuLysLysGluIleSerGlnArgLysLeuLysGlnPheTer)
|
|
|
NM_000179.3(MSH6):c.1759del (p.Ala587fs)
|
|
|
NM_000179.3(MSH6):c.1766_1767del (p.Tyr589fs)
|
|
|
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)
|
rs1558662873
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)
|
|
|
NM_000179.3(MSH6):c.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.1788dup (p.Glu597Ter)
|
|
|
NM_000179.3(MSH6):c.1794dup (p.Gly599fs)
|
rs587780670
|
|
NM_000179.3(MSH6):c.179T>A (p.Leu60Ter)
|
|
|
NM_000179.3(MSH6):c.1802del (p.Leu601fs)
|
|
|
NM_000179.3(MSH6):c.1804_1805del (p.Ser602fs)
|
rs1114167766
|
|
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.1809_1813del (p.Lys603fs)
|
|
|
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
|
|
|
NM_000179.3(MSH6):c.1812_1814delinsTAAAGAAT (p.Glu604fs)
|
|
|
NM_000179.3(MSH6):c.1813del (p.Thr605fs)
|
|
|
NM_000179.3(MSH6):c.1813dup (p.Thr605fs)
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1815dup (p.Lys606Ter)
|
|
|
NM_000179.3(MSH6):c.1819_1822del (p.Thr607fs)
|
rs1114167770
|
|
NM_000179.3(MSH6):c.1819del (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1819dup (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1820del (p.Thr607fs)
|
|
|
NM_000179.3(MSH6):c.1821_1899del (p.Thr607_Ile608insTer)
|
|
|
NM_000179.3(MSH6):c.1828A>T (p.Lys610Ter)
|
|
|
NM_000179.3(MSH6):c.1828_1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1845T>A (p.Cys615Ter)
|
|
|
NM_000179.3(MSH6):c.1849_1850dup (p.Gln618fs)
|
|
|
NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)
|
|
|
NM_000179.3(MSH6):c.185_186del (p.Arg62fs)
|
|
|
NM_000179.3(MSH6):c.1862dup (p.Ile622fs)
|
rs1572724689
|
|
NM_000179.3(MSH6):c.1866_1869dup (p.Gly624fs)
|
rs2104372607
|
|
NM_000179.3(MSH6):c.1869del (p.Gly624fs)
|
rs71539659
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)
|
rs1553413253
|
|
NM_000179.3(MSH6):c.1882dup (p.Trp628fs)
|
|
|
NM_000179.3(MSH6):c.1897del (p.Thr633fs)
|
|
|
NM_000179.3(MSH6):c.1898del (p.Thr633fs)
|
rs876658604
|
|
NM_000179.3(MSH6):c.1900_1901del (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)
|
rs63751097
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1901del (p.Thr633_Leu634insTer)
|
|
|
NM_000179.3(MSH6):c.1901dup (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1907_1923dup (p.Tyr642fs)
|
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1914del (p.Glu639fs)
|
|
|
NM_000179.3(MSH6):c.1918G>T (p.Glu640Ter)
|
rs1669393906
|
|
NM_000179.3(MSH6):c.1920del (p.Glu641fs)
|
|
|
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)
|
rs1553413305
|
|
NM_000179.3(MSH6):c.1923del (p.Glu641fs)
|
rs869040863
|
|
NM_000179.3(MSH6):c.1926T>A (p.Tyr642Ter)
|
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
|
rs1669395325
|
|
NM_000179.3(MSH6):c.1937del (p.Lys646fs)
|
rs1114167747
|
|
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
|
rs2104377567
|
|
NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.1957dup (p.Val653fs)
|
|
|
NM_000179.3(MSH6):c.1960_1961del (p.Met654fs)
|
|
|
NM_000179.3(MSH6):c.1962_1963dup (p.Leu655fs)
|
|
|
NM_000179.3(MSH6):c.1964T>A (p.Leu655Ter)
|
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
NM_000179.3(MSH6):c.1977dup (p.Lys660Ter)
|
|
|
NM_000179.3(MSH6):c.1979_1980delinsG (p.Lys660fs)
|
|
|
NM_000179.3(MSH6):c.1979_1982del (p.Lys660fs)
|
|
|
NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer)
|
rs1553413348
|
|
NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter)
|
rs1553413355
|
|
NM_000179.3(MSH6):c.1991C>G (p.Ser664Ter)
|
rs1553413355
|
|
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)
|
rs1333555322
|
|
NM_000179.3(MSH6):c.1994_1995del (p.Glu665fs)
|
rs1114167694
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
NM_000179.3(MSH6):c.1A>G (p.Met1Val)
|
rs2103930478
|
|
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer)
|
rs1060502918
|
|
NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs)
|
rs1558663954
|
|
NM_000179.3(MSH6):c.2023G>T (p.Glu675Ter)
|
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
NM_000179.3(MSH6):c.2028_2034del (p.Lys676fs)
|
|
|
NM_000179.3(MSH6):c.202A>T (p.Lys68Ter)
|
|
|
NM_000179.3(MSH6):c.2036_2042delinsGG (p.Leu679fs)
|
rs876658864
|
|
NM_000179.3(MSH6):c.2041del (p.Leu681fs)
|
rs1572725436
|
|
NM_000179.3(MSH6):c.2042del (p.Leu681fs)
|
rs1572725461
|
|
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)
|
rs267608057
|
|
NM_000179.3(MSH6):c.2045_2046dup (p.Ala683fs)
|
|
|
NM_000179.3(MSH6):c.2045del (p.Ser682fs)
|
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
NM_000179.3(MSH6):c.2059dup (p.Cys687fs)
|
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2070C>A (p.Tyr690Ter)
|
rs559125434
|
|
NM_000179.3(MSH6):c.2072_2073delinsATTA (p.Leu691fs)
|
rs876660386
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2081del (p.Cys694fs)
|
|
|
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs)
|
rs1114167733
|
|
NM_000179.3(MSH6):c.2089del (p.Asp697fs)
|
rs863224475
|
|
NM_000179.3(MSH6):c.2092del (p.Gln698fs)
|
rs1669419578
|
|
NM_000179.3(MSH6):c.2092dup (p.Gln698fs)
|
rs1114167740
|
|
NM_000179.3(MSH6):c.2102dup (p.Leu701fs)
|
rs2104388702
|
|
NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter)
|
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2119G>T (p.Glu707Ter)
|
|
|
NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)
|
rs1064795960
|
|
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)
|
rs1558664335
|
|
NM_000179.3(MSH6):c.2125dup (p.Tyr709fs)
|
rs587781650
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
NM_000179.3(MSH6):c.2131_2135del (p.Pro711fs)
|
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2165_2169del (p.Ser722fs)
|
rs1114167786
|
|
NM_000179.3(MSH6):c.2165dup (p.Gly723fs)
|
|
|
NM_000179.3(MSH6):c.2175_2188del (p.Phe726fs)
|
|
|
NM_000179.3(MSH6):c.2175dup (p.Phe726fs)
|
|
|
NM_000179.3(MSH6):c.2187del (p.Tyr730fs)
|
|
|
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2194del (p.Arg732fs)
|
|
|
NM_000179.3(MSH6):c.2197del (p.Met733fs)
|
|
|
NM_000179.3(MSH6):c.2204_2210del (p.Leu735fs)
|
rs1572726178
|
|
NM_000179.3(MSH6):c.2212_2222del (p.Val738fs)
|
rs876658848
|
|
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)
|
rs745483465
|
|
NM_000179.3(MSH6):c.2222_2252del (p.Asn741fs)
|
|
|
NM_000179.3(MSH6):c.2228_2229insAT (p.Glu744fs)
|
|
|
NM_000179.3(MSH6):c.2228dup (p.Leu743fs)
|
rs1114167761
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2238dup (p.Leu747fs)
|
rs1553413599
|
|
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)
|
rs1572726309
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2275del (p.Leu758_Leu759insTer)
|
|
|
NM_000179.3(MSH6):c.2278_2296del (p.Glu760fs)
|
|
|
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)
|
rs1114167721
|
|
NM_000179.3(MSH6):c.2290_2291insAGTA (p.Thr764fs)
|
|
|
NM_000179.3(MSH6):c.2290dup (p.Thr764fs)
|
rs1553413663
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2296dup (p.His766fs)
|
rs1114167712
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2302_2304del (p.Pro768del)
|
rs63750647
|
|
NM_000179.3(MSH6):c.2304_2326del (p.Phe769fs)
|
|
|
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)
|
rs864622585
|
|
NM_000179.3(MSH6):c.2313_2319del (p.Lys771fs)
|
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2324dup (p.Gln776fs)
|
|
|
NM_000179.3(MSH6):c.2327_2336del (p.Gln776fs)
|
|
|
NM_000179.3(MSH6):c.2328del (p.Gln776fs)
|
|
|
NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)
|
rs876660037
|
|
NM_000179.3(MSH6):c.2335dup (p.Cys779fs)
|
rs2104401401
|
|
NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)
|
rs1553413707
|
|
NM_000179.3(MSH6):c.2342dup (p.Leu782fs)
|
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs)
|
rs1553413717
|
|
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)
|
rs876661193
|
|
NM_000179.3(MSH6):c.2358T>A (p.Tyr786Ter)
|
|
|
NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)
|
|
|
NM_000179.3(MSH6):c.236_239del (p.Arg78_Ser79insTer)
|
|
|
NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)
|
rs1558665297
|
|
NM_000179.3(MSH6):c.2418del (p.Glu807fs)
|
|
|
NM_000179.3(MSH6):c.2419dup (p.Glu807fs)
|
rs1553413784
|
|
NM_000179.3(MSH6):c.2425_2449del (p.Val809fs)
|
|
|
NM_000179.3(MSH6):c.2429del (p.Glu810fs)
|
rs1572727176
|
|
NM_000179.3(MSH6):c.2430_2440del (p.Leu811fs)
|
rs1572727163
|
|
NM_000179.3(MSH6):c.2437A>T (p.Lys813Ter)
|
|
|
NM_000179.3(MSH6):c.2463dup (p.Leu822fs)
|
|
|
NM_000179.3(MSH6):c.2473del (p.Ile825fs)
|
rs1669467747
|
|
NM_000179.3(MSH6):c.2473dup (p.Ile825fs)
|
|
|
NM_000179.3(MSH6):c.2475_2478del (p.His826fs)
|
|
|
NM_000179.3(MSH6):c.2481del (p.Asn827fs)
|
|
|
NM_000179.3(MSH6):c.2494del (p.Pro831_Leu832insTer)
|
rs1553413844
|
|
NM_000179.3(MSH6):c.2502_2524dup (p.Ala842fs)
|
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2510_2511del (p.His837fs)
|
|
|
NM_000179.3(MSH6):c.2521del (p.Arg841fs)
|
rs1114167771
|
|
NM_000179.3(MSH6):c.2527dup (p.Ile843fs)
|
|
|
NM_000179.3(MSH6):c.2528_2529del (p.Ile843fs)
|
|
|
NM_000179.3(MSH6):c.2530_2534del (p.Ile843_Met844insTer)
|
|
|
NM_000179.3(MSH6):c.2535T>A (p.Tyr845Ter)
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2539G>T (p.Glu847Ter)
|
|
|
NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2550_2551del (p.Tyr850_Ser851delinsTer)
|
rs1553413897
|
|
NM_000179.3(MSH6):c.255dup (p.Thr86fs)
|
rs1064793183
|
|
NM_000179.3(MSH6):c.2565_2568del (p.Ile855fs)
|
|
|
NM_000179.3(MSH6):c.2565del (p.Ile856fs)
|
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2569del (p.Asp857fs)
|
|
|
NM_000179.3(MSH6):c.2574dup (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2587del (p.Glu863fs)
|
|
|
NM_000179.3(MSH6):c.2590G>T (p.Gly864Ter)
|
|
|
NM_000179.3(MSH6):c.2598_2602del (p.Lys866fs)
|
|
|
NM_000179.3(MSH6):c.2600del (p.Val867fs)
|
|
|
NM_000179.3(MSH6):c.2602dup (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2603_2609del (p.Met868fs)
|
|
|
NM_000179.3(MSH6):c.2603del (p.Met868fs)
|
rs1669486855
|
|
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)
|
rs63750357
|
|
NM_000179.3(MSH6):c.2613del (p.Ile871_Ile872insTer)
|
|
|
NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs)
|
rs1114167749
|
|
NM_000179.3(MSH6):c.2619del (p.Ile874fs)
|
|
|
NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)
|
|
|
NM_000179.3(MSH6):c.262_271del (p.Cys88fs)
|
|
|
NM_000179.3(MSH6):c.263dup (p.Cys88fs)
|
|
|
NM_000179.3(MSH6):c.2642del (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)
|
rs876660630
|
|
NM_000179.3(MSH6):c.2646del (p.Phe882fs)
|
|
|
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2656_2668delinsTCTAAA (p.Ile886fs)
|
rs1114167703
|
|
NM_000179.3(MSH6):c.2656del (p.Ile886fs)
|
|
|
NM_000179.3(MSH6):c.2662A>T (p.Lys888Ter)
|
rs1572728039
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2675_2678del (p.Ser892fs)
|
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)
|
rs878853718
|
|
NM_000179.3(MSH6):c.2690del (p.Asn897fs)
|
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2706del (p.Pro903fs)
|
|
|
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)
|
rs63750904
|
|
NM_000179.3(MSH6):c.2722G>T (p.Glu908Ter)
|
rs886056144
|
|
NM_000179.3(MSH6):c.2731del (p.Arg911fs)
|
|
|
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)
|
rs1060502876
|
|
NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2738del (p.Asp913fs)
|
|
|
NM_000179.3(MSH6):c.2739_2742dup (p.Ala915fs)
|
|
|
NM_000179.3(MSH6):c.2739dup (p.Thr914fs)
|
|
|
NM_000179.3(MSH6):c.2745del (p.Phe916fs)
|
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2768del (p.Lys923fs)
|
|
|
NM_000179.3(MSH6):c.2768dup (p.Thr924fs)
|
rs267608063
|
|
NM_000179.3(MSH6):c.276del (p.Gly93fs)
|
|
|
NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs)
|
rs1553414131
|
|
NM_000179.3(MSH6):c.2779del (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2780_2793del (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2781_2782dup (p.Thr928fs)
|
|
|
NM_000179.3(MSH6):c.2790dup (p.Ala931fs)
|
|
|
NM_000179.3(MSH6):c.2800dup (p.Asp934fs)
|
|
|
NM_000179.3(MSH6):c.2804_2805del (p.Asp934_Ser935insTer)
|
rs878853721
|
|
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)
|
rs863225403
|
|
NM_000179.3(MSH6):c.2805_2806insTT (p.Asp936fs)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2805_2807delinsCC (p.Asp936fs)
|
|
|
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2806_2809del (p.Asp936fs)
|
|
|
NM_000179.3(MSH6):c.2811T>G (p.Tyr937Ter)
|
rs1572728785
|
|
NM_000179.3(MSH6):c.2812_2814delinsTAA (p.Asp938Ter)
|
|
|
NM_000179.3(MSH6):c.2812del (p.Asp938fs)
|
rs1114167757
|
|
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)
|
rs63750140
|
|
NM_000179.3(MSH6):c.2831_2832del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2831_2835del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2831del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2831dup (p.Arg945fs)
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.2836G>T (p.Glu946Ter)
|
rs1558666905
|
|
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs)
|
|
|
NM_000179.3(MSH6):c.2836del (p.Glu946fs)
|
|
|
NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter)
|
rs1572728898
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2845_2846del (p.Gln949fs)
|
rs1572728922
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
NM_000179.3(MSH6):c.2857del (p.Glu953fs)
|
|
|
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)
|
rs1114167714
|
|
NM_000179.3(MSH6):c.2873_2874del (p.Gln958fs)
|
rs1553414239
|
|
NM_000179.3(MSH6):c.2877dup (p.Asn960fs)
|
|
|
NM_000179.3(MSH6):c.2879del (p.Asn960fs)
|
|
|
NM_000179.3(MSH6):c.2879dup (p.Asn960fs)
|
|
|
NM_000179.3(MSH6):c.2892dup (p.Arg965Ter)
|
|
|
NM_000179.3(MSH6):c.2902dup (p.Val968fs)
|
rs1572729161
|
|
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)
|
|
|
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)
|
rs765411990
|
|
NM_000179.3(MSH6):c.2913del (p.Ile972fs)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2916dup (p.Gly973fs)
|
|
|
NM_000179.3(MSH6):c.291G>A (p.Trp97Ter)
|
|
|
NM_000179.3(MSH6):c.2930_2936del (p.Tyr977fs)
|
|
|
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.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.2933del (p.Gln978fs)
|
|
|
NM_000179.3(MSH6):c.2940_2941dup (p.Ile981fs)
|
|
|
NM_000179.3(MSH6):c.2943del (p.Pro982fs)
|
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.2964dup (p.Asn989fs)
|
rs587781659
|
|
NM_000179.3(MSH6):c.2965_2966insG (p.Asn989fs)
|
|
|
NM_000179.3(MSH6):c.2969T>A (p.Leu990Ter)
|
rs1669533825
|
|
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)
|
rs774755404
|
|
NM_000179.3(MSH6):c.2977G>T (p.Glu993Ter)
|
|
|
NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)
|
rs367758473
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.2991del (p.Lys997fs)
|
rs1060502890
|
|
NM_000179.3(MSH6):c.2999del (p.Lys1000fs)
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)
|
rs587779253
|
|
NM_000179.3(MSH6):c.3021del (p.Tyr1006_Trp1007insTer)
|
rs587782862
|
|
NM_000179.3(MSH6):c.3028del (p.Thr1010fs)
|
rs1114167773
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)
|
|
|
NM_000179.3(MSH6):c.3044del (p.Leu1015fs)
|
|
|
NM_000179.3(MSH6):c.3050del (p.Asn1017fs)
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3056_3057del (p.Ile1019fs)
|
|
|
NM_000179.3(MSH6):c.3059dup (p.Asn1020fs)
|
|
|
NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)
|
rs1114167724
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3078dup (p.Val1027fs)
|
rs1572730002
|
|
NM_000179.3(MSH6):c.3079dup (p.Val1027fs)
|
|
|
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs)
|
rs1572730021
|
|
NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3089_3092del (p.Lys1030fs)
|
rs1553414488
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3114T>G (p.Tyr1038Ter)
|
|
|
NM_000179.3(MSH6):c.3114_3115del (p.Tyr1038_Asn1039delinsTer)
|
|
|
NM_000179.3(MSH6):c.3114_3115dup (p.Asn1039fs)
|
|
|
NM_000179.3(MSH6):c.3114del (p.Phe1037_Tyr1038insTer)
|
rs1114167751
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3119_3133delinsAT (p.Phe1040fs)
|
rs1114167781
|
|
NM_000179.3(MSH6):c.3124A>T (p.Lys1042Ter)
|
rs1572730270
|
|
NM_000179.3(MSH6):c.3128del (p.Asn1043fs)
|
|
|
NM_000179.3(MSH6):c.3128delinsCC (p.Asn1043fs)
|
|
|
NM_000179.3(MSH6):c.3129_3130insA (p.Tyr1044fs)
|
|
|
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3134del (p.Lys1045fs)
|
|
|
NM_000179.3(MSH6):c.3139del (p.Trp1047fs)
|
rs1114167782
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
NM_000179.3(MSH6):c.3140G>A (p.Trp1047Ter)
|
rs1064794302
|
|
NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)
|
rs1553414554
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs)
|
rs2104443138
|
|
NM_000179.3(MSH6):c.3159_3160insCT (p.Ile1054fs)
|
|
|
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)
|
rs1553414578
|
|
NM_000179.3(MSH6):c.315G>A (p.Trp105Ter)
|
rs1060502902
|
|
NM_000179.3(MSH6):c.315del (p.Trp105fs)
|
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3168_3172+2del
|
|
|
NM_000179.3(MSH6):c.3172+1G>A
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+2del
|
|
|
NM_000179.3(MSH6):c.3173-14_3173-3del
|
rs1553331228
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1G>T
|
|
|
NM_000179.3(MSH6):c.3173-2A>G
|
|
|
NM_000179.3(MSH6):c.3177_3184del (p.Leu1060fs)
|
|
|
NM_000179.3(MSH6):c.3179del (p.Leu1060fs)
|
|
|
NM_000179.3(MSH6):c.318G>A (p.Trp106Ter)
|
rs1572708652
|
|
NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs)
|
rs2104472237
|
|
NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)
|
|
|
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3198_3229dup (p.Pro1077fs)
|
|
|
NM_000179.3(MSH6):c.3208_3209dup (p.Asp1071fs)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3209del (p.Gly1070fs)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3209dup (p.Gly1070_Asp1071insTer)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
NM_000179.3(MSH6):c.3217_3241del (p.Pro1073fs)
|
|
|
NM_000179.3(MSH6):c.3218del (p.Pro1073fs)
|
|
|
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)
|
rs1553331290
|
|
NM_000179.3(MSH6):c.3224_3225del (p.Cys1075fs)
|
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3242del (p.Leu1081fs)
|
rs1572735157
|
|
NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)
|
rs763844573
|
|
NM_000179.3(MSH6):c.3247_3248del (p.Glu1083fs)
|
|
|
NM_000179.3(MSH6):c.3252dup (p.Thr1085fs)
|
rs1553331366
|
|
NM_000179.3(MSH6):c.3253_3254insT (p.Thr1085fs)
|
rs1572735220
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3253delinsTC (p.Thr1085fs)
|
rs1114167705
|
|
NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)
|
rs1114167705
|
|
NM_000179.3(MSH6):c.3254_3255delinsA (p.Thr1085fs)
|
rs1553331378
|
|
NM_000179.3(MSH6):c.3260_3261del (p.Pro1087fs)
|
|
|
NM_000179.3(MSH6):c.3260_3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3260_3261insT (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3261_3305delinsTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACT (p.Phe1088_Thr1102delinsSerTer)
|
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3263del (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3264del (p.Phe1088_Leu1089insTer)
|
|
|
NM_000179.3(MSH6):c.3265_3306delinsCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGAC (p.Glu1090_Thr1102delinsLeuArgAlaTer)
|
|
|
NM_000179.3(MSH6):c.3267_3268insC (p.Glu1090fs)
|
rs786203712
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3274_3277dup (p.Gly1093fs)
|
|
|
NM_000179.3(MSH6):c.3276_3281delinsGAAGCTCTAAGA (p.Gly1093_Ser1094delinsLysLeuTer)
|
|
|
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)
|
|
|
NM_000179.3(MSH6):c.3278del (p.Gly1093fs)
|
|
|
NM_000179.3(MSH6):c.3281C>A (p.Ser1094Ter)
|
|
|
NM_000179.3(MSH6):c.3282_3285dup (p.His1096fs)
|
|
|
NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)
|
|
|
NM_000179.3(MSH6):c.3297dup (p.Thr1100fs)
|
|
|
NM_000179.3(MSH6):c.3299_3300del (p.Thr1100fs)
|
|
|
NM_000179.3(MSH6):c.3302_3353dup (p.Glu1118_Glu1119insAspPhePheTrpArgTer)
|
|
|
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.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)
|
rs786202772
|
|
NM_000179.3(MSH6):c.333_334dup (p.Asn112fs)
|
|
|
NM_000179.3(MSH6):c.3352G>T (p.Glu1118Ter)
|
|
|
NM_000179.3(MSH6):c.3355del (p.Glu1119fs)
|
|
|
NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)
|
rs1114167793
|
|
NM_000179.3(MSH6):c.3361G>T (p.Glu1121Ter)
|
rs587781609
|
|
NM_000179.3(MSH6):c.3364C>T (p.Gln1122Ter)
|
|
|
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
|
|
|
NM_000179.3(MSH6):c.336_337dup (p.His113fs)
|
|
|
NM_000179.3(MSH6):c.3377_3378del (p.Lys1126fs)
|
rs1553331665
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3384T>G (p.Tyr1128Ter)
|
|
|
NM_000179.3(MSH6):c.3389_3390del (p.Val1130fs)
|
|
|
NM_000179.3(MSH6):c.3404_3410del (p.Pro1135fs)
|
|
|
NM_000179.3(MSH6):c.3410del (p.Met1137fs)
|
|
|
NM_000179.3(MSH6):c.3415_3416delinsT (p.Gly1139fs)
|
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
NM_000179.3(MSH6):c.3417del (p.Lys1140fs)
|
rs1572736122
|
|
NM_000179.3(MSH6):c.3419dup (p.Ser1141fs)
|
rs1572736128
|
|
NM_000179.3(MSH6):c.342del (p.Phe115fs)
|
|
|
NM_000179.3(MSH6):c.3435del (p.Arg1145fs)
|
rs863224476
|
|
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)
|
rs63750356
|
|
NM_000179.3(MSH6):c.3437A>C (p.Gln1146Pro)
|
rs587779262
|
|
NM_000179.3(MSH6):c.3438+1G>A
|
rs267608096
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2A>T
|
rs267608098
|
|
NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)
|
|
|
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.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
NM_000179.3(MSH6):c.3472_3479del (p.Cys1158fs)
|
|
|
NM_000179.3(MSH6):c.3473_3476delinsCT (p.Cys1158fs)
|
|
|
NM_000179.3(MSH6):c.3475del (p.Tyr1159fs)
|
rs1572738533
|
|
NM_000179.3(MSH6):c.3475dup (p.Tyr1159fs)
|
|
|
NM_000179.3(MSH6):c.3476del (p.Tyr1159fs)
|
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3486dup (p.Glu1163Ter)
|
|
|
NM_000179.3(MSH6):c.3487_3488insT (p.Glu1163fs)
|
|
|
NM_000179.3(MSH6):c.3487del (p.Glu1163fs)
|
|
|
NM_000179.3(MSH6):c.3489del (p.Val1164fs)
|
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3495del (p.Val1164_Cys1165insTer)
|
|
|
NM_000179.3(MSH6):c.3496_3497dup (p.Leu1167fs)
|
|
|
NM_000179.3(MSH6):c.3499_3503dup (p.Pro1169fs)
|
|
|
NM_000179.3(MSH6):c.349G>T (p.Gly117Ter)
|
|
|
NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)
|
rs1473648816
|
|
NM_000179.3(MSH6):c.3510_3513del (p.Asp1171fs)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3514dup (p.Arg1172fs)
|
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3514_3540inv (p.Arg1172_Ser1180delinsTer)
|
|
|
NM_000179.3(MSH6):c.3515_3516insTGTTTACTAGACAG (p.Arg1172delinsSerValTyrTer)
|
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)
|
rs267608099
|
|
NM_000179.3(MSH6):c.3519_3520del (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3522_3524delinsAT (p.Phe1174fs)
|
rs1572738865
|
|
NM_000179.3(MSH6):c.3525del (p.Arg1176fs)
|
|
|
NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)
|
rs786203968
|
|
NM_000179.3(MSH6):c.3526_3538del (p.Arg1176fs)
|
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3528_3535del (p.Arg1176fs)
|
|
|
NM_000179.3(MSH6):c.3531_3538del (p.Gly1178fs)
|
rs2104509127
|
|
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)
|
rs766905993
|
|
NM_000179.3(MSH6):c.3540dup (p.Asp1181fs)
|
|
|
NM_000179.3(MSH6):c.3544A>T (p.Arg1182Ter)
|
|
|
NM_000179.3(MSH6):c.3545_3546del (p.Arg1182fs)
|
|
|
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)
|
rs1572739043
|
|
NM_000179.3(MSH6):c.3556+1G>A
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
NM_000179.3(MSH6):c.3556+2T>G
|
|
|
NM_000179.3(MSH6):c.3557-1G>C
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-6_3567delinsAAGGTGAAAGTACAT
|
|
|
NM_000179.3(MSH6):c.3559del (p.Glu1187fs)
|
|
|
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs)
|
rs891318615
|
|
NM_000179.3(MSH6):c.3562_3565dup (p.Thr1189fs)
|
rs786203331
|
|
NM_000179.3(MSH6):c.3562del (p.Ser1188fs)
|
rs1553332622
|
|
NM_000179.3(MSH6):c.3562dup (p.Ser1188fs)
|
|
|
NM_000179.3(MSH6):c.3567dup (p.Phe1190fs)
|
|
|
NM_000179.3(MSH6):c.356dup (p.Ile120fs)
|
rs1114167776
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)
|
rs1060502881
|
|
NM_000179.3(MSH6):c.3577del (p.Glu1193fs)
|
rs1114167755
|
|
NM_000179.3(MSH6):c.3581T>A (p.Leu1194Ter)
|
|
|
NM_000179.3(MSH6):c.3581T>G (p.Leu1194Ter)
|
|
|
NM_000179.3(MSH6):c.3589del (p.Thr1197fs)
|
|
|
NM_000179.3(MSH6):c.3600_3601del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3611del (p.Ala1204fs)
|
rs2104524766
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
NM_000179.3(MSH6):c.3622del (p.Ser1208fs)
|
|
|
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)
|
rs1553332733
|
|
NM_000179.3(MSH6):c.3625_3626del (p.Leu1209fs)
|
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)
|
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3637del (p.Asp1213fs)
|
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_000179.3(MSH6):c.3642del (p.Glu1214fs)
|
|
|
NM_000179.3(MSH6):c.3646+1_3646+30delinsTCTC
|
|
|
NM_000179.3(MSH6):c.3646+2_3646+3insCT
|
rs1269788253
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-6_3647-1del
|
rs267608112
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3674_3690del (p.Thr1225fs)
|
|
|
NM_000179.3(MSH6):c.3683dup (p.Asn1229fs)
|
|
|
NM_000179.3(MSH6):c.3693_3694insTAA (p.Val1232Ter)
|
|
|
NM_000179.3(MSH6):c.3694_3695dup (p.Lys1233fs)
|
|
|
NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter)
|
rs1553333017
|
|
NM_000179.3(MSH6):c.3697A>T (p.Lys1233Ter)
|
|
|
NM_000179.3(MSH6):c.3697_3698insGA (p.Lys1233fs)
|
|
|
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3705dup (p.Ala1236fs)
|
rs1553333031
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.3699dup (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.3700G>T (p.Glu1234Ter)
|
rs35717727
|
|
NM_000179.3(MSH6):c.3701_3704dup (p.Ala1236fs)
|
|
|
NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)
|
|
|
NM_000179.3(MSH6):c.3709G>T (p.Glu1237Ter)
|
|
|
NM_000179.3(MSH6):c.3709_3710insC (p.Glu1237fs)
|
|
|
NM_000179.3(MSH6):c.3711_3712del (p.Glu1237fs)
|
rs2104540758
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3716dup (p.Cys1241fs)
|
rs1114167706
|
|
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)
|
rs878853736
|
|
NM_000179.3(MSH6):c.3717_3733del (p.Lys1240fs)
|
|
|
NM_000179.3(MSH6):c.3718A>T (p.Lys1240Ter)
|
|
|
NM_000179.3(MSH6):c.3719_3720insT (p.Lys1240fs)
|
|
|
NM_000179.3(MSH6):c.3720del (p.Lys1240fs)
|
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
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.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.372del (p.Lys125fs)
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3737C>A (p.Ser1246Ter)
|
|
|
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs)
|
rs1558392265
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3745_3748del (p.Tyr1249fs)
|
|
|
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs)
|
rs587779936
|
|
NM_000179.3(MSH6):c.3747C>G (p.Tyr1249Ter)
|
|
|
NM_000179.3(MSH6):c.3752_3755del (p.His1250_Ser1251insTer)
|
|
|
NM_000179.3(MSH6):c.3752_3758delinsTG (p.Ser1251fs)
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3759_3777del (p.Glu1254fs)
|
|
|
NM_000179.3(MSH6):c.3760_3761del (p.Glu1254fs)
|
|
|
NM_000179.3(MSH6):c.3761_3764dup (p.Asp1255fs)
|
rs1572745084
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)
|
rs1572745157
|
|
NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3788dup (p.Leu1264fs)
|
|
|
NM_000179.3(MSH6):c.3789_3790insTAGC (p.Leu1264Ter)
|
rs1114167717
|
|
NM_000179.3(MSH6):c.3792del (p.Gly1265fs)
|
rs1553333164
|
|
NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)
|
rs754469538
|
|
NM_000179.3(MSH6):c.3794dup (p.His1266fs)
|
rs1572745322
|
|
NM_000179.3(MSH6):c.3797del (p.His1266fs)
|
rs1572745360
|
|
NM_000179.3(MSH6):c.3798_3801+9del
|
rs1553333168
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.3801+1_3801+5del
|
rs1553333175
|
|
NM_000179.3(MSH6):c.3802-1G>C
|
rs1572746025
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3806_3818del (p.Cys1269fs)
|
rs1670089838
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3816_3819dup (p.Glu1274delinsLysTer)
|
|
|
NM_000179.3(MSH6):c.3816_3840dup (p.Glu1281delinsLysTer)
|
rs1572746192
|
|
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)
|
rs587779294
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000179.3(MSH6):c.3824_3831del (p.Cys1275fs)
|
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000179.3(MSH6):c.3834del (p.Ser1279fs)
|
|
|
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)
|
rs63750139
|
|
NM_000179.3(MSH6):c.3839dup (p.Glu1281fs)
|
rs1572746488
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs)
|
rs1114167783
|
|
NM_000179.3(MSH6):c.3846dup (p.Ile1283fs)
|
rs866771359
|
|
NM_000179.3(MSH6):c.3847_3848del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3847_3848dup (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3849_3851delinsAA (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3849_3851delinsAGGAACGTAA (p.Thr1284delinsGlyThrTer)
|
|
|
NM_000179.3(MSH6):c.3849del (p.Thr1284fs)
|
rs1064793781
|
|
NM_000179.3(MSH6):c.3850_3853dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850_3857dup (p.Tyr1287fs)
|
rs1553333432
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3851_3872dup (p.Lys1291delinsAsnValProLeuTer)
|
rs1553333435
|
|
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)
|
rs1060504739
|
|
NM_000179.3(MSH6):c.3861_3862del (p.Tyr1287_Lys1288delinsTer)
|
|
|
NM_000179.3(MSH6):c.3862_3864delinsTACG (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3866_3870dup (p.Lys1291fs)
|
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3881del (p.Cys1294fs)
|
|
|
NM_000179.3(MSH6):c.3881dup (p.Cys1294fs)
|
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
NM_000179.3(MSH6):c.3891_3928dup (p.Glu1310fs)
|
rs1572746998
|
|
NM_000179.3(MSH6):c.3893dup (p.Tyr1298Ter)
|
rs1553333530
|
|
NM_000179.3(MSH6):c.3896_3917dup (p.Ala1306_Asn1307insLeuTer)
|
rs1553333540
|
|
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)
|
rs1064793895
|
|
NM_000179.3(MSH6):c.3900_3945dup (p.Gly1316Ter)
|
rs1558393814
|
|
NM_000179.3(MSH6):c.3902dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3903_3909dup (p.Arg1304fs)
|
|
|
NM_000179.3(MSH6):c.3916_3973dup (p.Lys1325delinsSerTer)
|
rs2104560664
|
|
NM_000179.3(MSH6):c.3920del (p.Asn1307fs)
|
rs1114167760
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)
|
|
|
NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)
|
rs1553333615
|
|
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)
|
rs878853742
|
|
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)
|
|
|
NM_000179.3(MSH6):c.3931del (p.Glu1311fs)
|
rs1558394093
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)
|
rs1553333644
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3946_3958dup (p.Ala1320delinsGlyThrTer)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)
|
rs1114167790
|
|
NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)
|
rs1553333682
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3955_3980del (p.Lys1319fs)
|
rs876660118
|
|
NM_000179.3(MSH6):c.3957del (p.Ala1320fs)
|
rs587779297
|
|
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.3962_3965dup (p.Phe1323fs)
|
rs1670140478
|
|
NM_000179.3(MSH6):c.3962_3966dup (p.Phe1323fs)
|
|
|
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3966_3987dup (p.Leu1330delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)
|
rs886044911
|
|
NM_000179.3(MSH6):c.3968_3969del (p.Glu1322_Phe1323insTer)
|
|
|
NM_000179.3(MSH6):c.3969_3982dup (p.Gln1328delinsLeuArgArgTer)
|
|
|
NM_000179.3(MSH6):c.397_410del (p.Phe133fs)
|
rs786202193
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)
|
rs587782326
|
|
NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)
|
rs2104567084
|
|
NM_000179.3(MSH6):c.3983dup (p.Ser1329fs)
|
|
|
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.3999dup (p.Arg1334fs)
|
rs863225418
|
|
NM_000179.3(MSH6):c.3G>C (p.Met1Ile)
|
rs876660095
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
NM_000179.3(MSH6):c.3del (p.Met1fs)
|
rs1553408068
|
|
NM_000179.3(MSH6):c.4001+1G>A
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.402del (p.Phe134fs)
|
|
|
NM_000179.3(MSH6):c.402dup (p.Asp135Ter)
|
rs1057524912
|
|
NM_000179.3(MSH6):c.404_405del (p.Asp135fs)
|
|
|
NM_000179.3(MSH6):c.422del (p.Gly141fs)
|
rs1553410342
|
|
NM_000179.3(MSH6):c.423del (p.Trp142fs)
|
rs1114167728
|
|
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)
|
rs63750342
|
|
NM_000179.3(MSH6):c.427dup (p.Val143fs)
|
rs2104110751
|
|
NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)
|
|
|
NM_000179.3(MSH6):c.440_444delinsC (p.Leu147fs)
|
|
|
NM_000179.3(MSH6):c.442_443del (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.443dup (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.458-1G>A
|
rs267608035
|
|
NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)
|
|
|
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.472del (p.Glu158fs)
|
|
|
NM_000179.3(MSH6):c.472dup (p.Glu158fs)
|
|
|
NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)
|
rs1114167692
|
|
NM_000179.3(MSH6):c.484G>T (p.Gly162Ter)
|
|
|
NM_000179.3(MSH6):c.485del (p.Gly162fs)
|
rs2104229850
|
|
NM_000179.3(MSH6):c.486_487del (p.Gly163fs)
|
|
|
NM_000179.3(MSH6):c.496del (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.496dup (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.510dup (p.Glu171Ter)
|
|
|
NM_000179.3(MSH6):c.518del (p.Leu173fs)
|
|
|
NM_000179.3(MSH6):c.524del (p.Ala175fs)
|
rs1669058948
|
|
NM_000179.3(MSH6):c.538del (p.Asp180fs)
|
|
|
NM_000179.3(MSH6):c.541G>T (p.Glu181Ter)
|
|
|
NM_000179.3(MSH6):c.551_566del (p.Asn184fs)
|
|
|
NM_000179.3(MSH6):c.551del (p.Asn184fs)
|
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.565A>T (p.Lys189Ter)
|
rs786203597
|
|
NM_000179.3(MSH6):c.578_591del (p.Glu192_Leu193insTer)
|
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
NM_000179.3(MSH6):c.586del (p.Cys196fs)
|
rs2104238107
|
|
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.599_600del (p.Pro199_Ser200insTer)
|
|
|
NM_000179.3(MSH6):c.601G>T (p.Glu201Ter)
|
|
|
NM_000179.3(MSH6):c.616G>T (p.Glu206Ter)
|
|
|
NM_000179.3(MSH6):c.626_627+15del
|
rs587782172
|
|
NM_000179.3(MSH6):c.631_634del (p.Gly211fs)
|
rs1553412041
|
|
NM_000179.3(MSH6):c.637del (p.Thr213fs)
|
|
|
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)
|
rs2104288054
|
|
NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer)
|
rs1553412064
|
|
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
|
rs1669240720
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.657del (p.Ser219fs)
|
|
|
NM_000179.3(MSH6):c.661G>T (p.Glu221Ter)
|
|
|
NM_000179.3(MSH6):c.664_671dup (p.Glu226fs)
|
|
|
NM_000179.3(MSH6):c.670G>T (p.Glu224Ter)
|
|
|
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs)
|
rs2104290462
|
|
NM_000179.3(MSH6):c.688del (p.Glu230fs)
|
rs1669245178
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)
|
rs1553412120
|
|
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)
|
rs63750996
|
|
NM_000179.3(MSH6):c.706_707del (p.Gln236fs)
|
rs1553412129
|
|
NM_000179.3(MSH6):c.709G>T (p.Gly237Ter)
|
|
|
NM_000179.3(MSH6):c.710del (p.Gly237fs)
|
rs587779319
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.719_726del (p.Arg240fs)
|
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.742dup (p.Arg248fs)
|
rs1572720192
|
|
NM_000179.3(MSH6):c.744_747del (p.Arg249fs)
|
|
|
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
|
rs1669252923
|
|
NM_000179.3(MSH6):c.762dup (p.Glu255Ter)
|
rs1572720288
|
|
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)
|
rs1114167704
|
|
NM_000179.3(MSH6):c.770dup (p.Asp257fs)
|
rs2104296608
|
|
NM_000179.3(MSH6):c.774del (p.Ile258fs)
|
|
|
NM_000179.3(MSH6):c.776dup (p.Gly260fs)
|
rs1558659265
|
|
NM_000179.3(MSH6):c.807dup (p.Lys270Ter)
|
|
|
NM_000179.3(MSH6):c.809del (p.Lys270fs)
|
rs1114167696
|
|
NM_000179.3(MSH6):c.811_814del (p.Glu271fs)
|
|
|
NM_000179.3(MSH6):c.816_817insTTCC (p.Gly273fs)
|
|
|
NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)
|
|
|
NM_000179.3(MSH6):c.829del (p.Glu277fs)
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
NM_000179.3(MSH6):c.843_847dup (p.Gly283fs)
|
rs1114167708
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
NM_000179.3(MSH6):c.847_850dup (p.Asp284fs)
|
|
|
NM_000179.3(MSH6):c.847_862del (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.859_860del (p.Glu286_Ser287insTer)
|
|
|
NM_000179.3(MSH6):c.860delinsTTCAC (p.Ser287fs)
|
|
|
NM_000179.3(MSH6):c.869dup (p.Asn291fs)
|
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000179.3(MSH6):c.885dup (p.Val296fs)
|
rs1572720704
|
|
NM_000179.3(MSH6):c.88_100del (p.Glu30fs)
|
|
|
NM_000179.3(MSH6):c.88_98del (p.Glu30fs)
|
|
|
NM_000179.3(MSH6):c.8_15del (p.Arg3fs)
|
rs1572697714
|
|
NM_000179.3(MSH6):c.900_913del (p.Lys301fs)
|
|
|
NM_000179.3(MSH6):c.900del (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)
|
rs1572720794
|
|
NM_000179.3(MSH6):c.904A>T (p.Arg302Ter)
|
|
|
NM_000179.3(MSH6):c.904del (p.Arg302fs)
|
|
|
NM_000179.3(MSH6):c.904dup (p.Arg302fs)
|
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000179.3(MSH6):c.90_105del (p.Gly31fs)
|
|
|
NM_000179.3(MSH6):c.91_101delinsA (p.Gly31fs)
|
|
|
NM_000179.3(MSH6):c.91_105delinsA (p.Gly31fs)
|
|
|
NM_000179.3(MSH6):c.928_929del (p.Ser309_Leu310insTer)
|
rs2104306720
|
|
NM_000179.3(MSH6):c.928_931delinsT (p.Leu310_Lys311delinsTer)
|
|
|
NM_000179.3(MSH6):c.929_930del (p.Leu310fs)
|
|
|
NM_000179.3(MSH6):c.92_101del (p.Gly31fs)
|
|
|
NM_000179.3(MSH6):c.940del (p.Ser314fs)
|
rs2104307566
|
|
NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.955dup (p.Thr319fs)
|
|
|
NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)
|
rs1472853525
|
|
NM_000179.3(MSH6):c.96_102del (p.Arg33fs)
|
|
|
NM_000179.3(MSH6):c.973C>T (p.Gln325Ter)
|
rs1553412397
|
|
NM_000179.3(MSH6):c.981dup (p.Ser328Ter)
|
|
|
NM_000179.3(MSH6):c.988dup (p.Ser330fs)
|
rs1553412409
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg)
|
rs121913235
|
|
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)
|
rs121913513
|
|
NM_000222.3(KIT):c.1735_1737del (p.Asp579del)
|
rs1060502543
|
|
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)
|
rs121913668
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000249.3(MLH1):c.2148_2168del21ins5
|
|
|
NM_000249.3:c.(1896+1_1897-1)_(2103+1_2104-1)dup
|
|
|
NM_000249.3:c.1667+678insALU
|
|
|
NM_000249.4(MLH1):c.-27C>A
|
rs587779001
|
|
NM_000249.4(MLH1):c.-7_1del (p.Met1fs)
|
rs2125693198
|
|
NM_000249.4(MLH1):c.1003del (p.Leu335fs)
|
rs2082990862
|
|
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
|
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1017del (p.Ser340fs)
|
rs63750339
|
|
NM_000249.4(MLH1):c.1023del (p.Met342fs)
|
rs63749837
|
|
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.1036del (p.Gln346fs)
|
rs876659073
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1038G>C (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1038G>T (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-1G>T
|
|
|
NM_000249.4(MLH1):c.1042_1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1046dup (p.Pro350fs)
|
rs267607822
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.1050del (p.Gly351fs)
|
rs587778883
|
|
NM_000249.4(MLH1):c.1051G>T (p.Gly351Ter)
|
rs1437454428
|
|
NM_000249.4(MLH1):c.1065_1086del (p.Ser356fs)
|
|
|
NM_000249.4(MLH1):c.1065del (p.Ser356fs)
|
|
|
NM_000249.4(MLH1):c.1068_1072del (p.Gly357fs)
|
|
|
NM_000249.4(MLH1):c.1072G>T (p.Glu358Ter)
|
|
|
NM_000249.4(MLH1):c.1072dup (p.Glu358fs)
|
|
|
NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs)
|
|
|
NM_000249.4(MLH1):c.1090del (p.Thr364fs)
|
rs876659226
|
|
NM_000249.4(MLH1):c.1091_1092del (p.Thr364fs)
|
|
|
NM_000249.4(MLH1):c.1101del (p.Ser368fs)
|
rs63750715
|
|
NM_000249.4(MLH1):c.1103C>A (p.Ser368Ter)
|
|
|
NM_000249.4(MLH1):c.1105dup (p.Ser369fs)
|
rs1060500699
|
|
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)
|
rs876658410
|
|
NM_000249.4(MLH1):c.1114del (p.Ser372fs)
|
|
|
NM_000249.4(MLH1):c.1117G>T (p.Gly373Ter)
|
|
|
NM_000249.4(MLH1):c.1118del (p.Gly373fs)
|
|
|
NM_000249.4(MLH1):c.1120_1127del (p.Gly373_Ser374insTer)
|
|
|
NM_000249.4(MLH1):c.1122del (p.Ser374fs)
|
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1130_1136del (p.Lys377fs)
|
|
|
NM_000249.4(MLH1):c.1130dup (p.Val378fs)
|
rs1553650741
|
|
NM_000249.4(MLH1):c.1141del (p.His381fs)
|
|
|
NM_000249.4(MLH1):c.1144C>T (p.Gln382Ter)
|
|
|
NM_000249.4(MLH1):c.114del (p.Cys39fs)
|
|
|
NM_000249.4(MLH1):c.116+2T>C
|
|
|
NM_000249.4(MLH1):c.116+2T>G
|
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1168dup (p.Glu390fs)
|
rs2083411159
|
|
NM_000249.4(MLH1):c.117-1G>A
|
rs587779950
|
|
NM_000249.4(MLH1):c.117-1G>T
|
rs587779950
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs)
|
rs2083412120
|
|
NM_000249.4(MLH1):c.1173del (p.Lys392fs)
|
|
|
NM_000249.4(MLH1):c.1181dup (p.Asp394fs)
|
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)
|
rs63750483
|
|
NM_000249.4(MLH1):c.1199dup (p.Ser401fs)
|
|
|
NM_000249.4(MLH1):c.119T>G (p.Leu40Ter)
|
|
|
NM_000249.4(MLH1):c.11_12del (p.Val4fs)
|
|
|
NM_000249.4(MLH1):c.1204_1207dup (p.Pro403fs)
|
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1212_1213del (p.Ser405fs)
|
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.121del (p.Asp41fs)
|
|
|
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)
|
rs63751153
|
|
NM_000249.4(MLH1):c.1226dup (p.Ala410fs)
|
|
|
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)
|
rs63751094
|
|
NM_000249.4(MLH1):c.122A>T (p.Asp41Val)
|
rs63751094
|
|
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs)
|
rs1575536219
|
|
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer)
|
rs1575536254
|
|
NM_000249.4(MLH1):c.1239dup (p.Glu414fs)
|
rs2125883954
|
|
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)
|
rs267607823
|
|
NM_000249.4(MLH1):c.1251dup (p.Asp418fs)
|
|
|
NM_000249.4(MLH1):c.1253_1262dup (p.Ser421delinsArgTyrPheTer)
|
|
|
NM_000249.4(MLH1):c.1257_1273del (p.Ile419fs)
|
rs786203893
|
|
NM_000249.4(MLH1):c.1259_1260del (p.Ile419_Ser420insTer)
|
|
|
NM_000249.4(MLH1):c.125dup (p.Ser44fs)
|
|
|
NM_000249.4(MLH1):c.1261_1262delinsC (p.Ser421fs)
|
rs1575536698
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)
|
rs1559553501
|
|
NM_000249.4(MLH1):c.127A>T (p.Lys43Ter)
|
rs2081161426
|
|
NM_000249.4(MLH1):c.1281_1300del (p.Gln427fs)
|
|
|
NM_000249.4(MLH1):c.1282del (p.Asp428fs)
|
|
|
NM_000249.4(MLH1):c.1285G>T (p.Glu429Ter)
|
|
|
NM_000249.4(MLH1):c.1288G>T (p.Glu430Ter)
|
|
|
NM_000249.4(MLH1):c.128_137del (p.Lys43fs)
|
|
|
NM_000249.4(MLH1):c.1292dup (p.Met431fs)
|
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.129_133del (p.Lys43fs)
|
|
|
NM_000249.4(MLH1):c.129del (p.Lys43fs)
|
|
|
NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs)
|
rs1553651299
|
|
NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter)
|
rs1302248679
|
|
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
|
rs63751109
|
|
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
NM_000249.4(MLH1):c.132del (p.Thr45fs)
|
rs2081162085
|
|
NM_000249.4(MLH1):c.1331del (p.Asn444fs)
|
|
|
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)
|
rs1575537843
|
|
NM_000249.4(MLH1):c.133del (p.Thr45fs)
|
|
|
NM_000249.4(MLH1):c.1340T>A (p.Leu447Ter)
|
|
|
NM_000249.4(MLH1):c.1342G>T (p.Glu448Ter)
|
rs1575537933
|
|
NM_000249.4(MLH1):c.1343dup (p.Asp450fs)
|
|
|
NM_000249.4(MLH1):c.1345_1357del (p.Gly449fs)
|
|
|
NM_000249.4(MLH1):c.1347_1348del (p.Asp450fs)
|
|
|
NM_000249.4(MLH1):c.1348del (p.Asp450fs)
|
rs587778906
|
|
NM_000249.4(MLH1):c.1348dup (p.Asp450fs)
|
rs587778906
|
|
NM_000249.4(MLH1):c.1349del (p.Asp450fs)
|
rs2083448445
|
|
NM_000249.4(MLH1):c.1358del (p.Lys453fs)
|
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1363_1373del (p.Thr455fs)
|
|
|
NM_000249.4(MLH1):c.1363del (p.Thr455fs)
|
|
|
NM_000249.4(MLH1):c.1364del (p.Thr455fs)
|
|
|
NM_000249.4(MLH1):c.1367C>A (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367C>G (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1374_1378dup (p.Glu460fs)
|
|
|
NM_000249.4(MLH1):c.1376C>A (p.Ser459Ter)
|
rs2083454135
|
|
NM_000249.4(MLH1):c.1376C>G (p.Ser459Ter)
|
rs2083454135
|
|
NM_000249.4(MLH1):c.1377dup (p.Glu460fs)
|
rs63750020
|
|
NM_000249.4(MLH1):c.1378_1381del (p.Glu460fs)
|
|
|
NM_000249.4(MLH1):c.1380_1381del (p.Lys461fs)
|
rs587778909
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1398del (p.Ser467fs)
|
rs63750713
|
|
NM_000249.4(MLH1):c.1400del (p.Ser467fs)
|
rs1064795515
|
|
NM_000249.4(MLH1):c.1401del (p.Ser467fs)
|
rs587781892
|
|
NM_000249.4(MLH1):c.1403_1404delinsG (p.Asn468fs)
|
|
|
NM_000249.4(MLH1):c.1407del (p.Arg470fs)
|
|
|
NM_000249.4(MLH1):c.1408A>T (p.Arg470Ter)
|
rs2125887070
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>C
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)
|
rs63751592
|
|
NM_000249.4(MLH1):c.1413_1416del (p.Lys471fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1414A>T (p.Arg472Ter)
|
|
|
NM_000249.4(MLH1):c.1416dup (p.His473fs)
|
rs1553652883
|
|
NM_000249.4(MLH1):c.1423del (p.Glu475fs)
|
rs1575552157
|
|
NM_000249.4(MLH1):c.1429del (p.Ser477fs)
|
|
|
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1433del (p.Asp478fs)
|
|
|
NM_000249.4(MLH1):c.1441del (p.Met481fs)
|
rs878853777
|
|
NM_000249.4(MLH1):c.1441dup (p.Met481fs)
|
|
|
NM_000249.4(MLH1):c.1444del (p.Val482fs)
|
|
|
NM_000249.4(MLH1):c.1449dup (p.Asp484fs)
|
|
|
NM_000249.4(MLH1):c.144del (p.Gln48_Val49insTer)
|
|
|
NM_000249.4(MLH1):c.1456dup (p.Ser486fs)
|
rs878853778
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1459del (p.Arg487fs)
|
|
|
NM_000249.4(MLH1):c.1468del (p.Glu489_Met490insTer)
|
|
|
NM_000249.4(MLH1):c.1473del (p.Ala492fs)
|
|
|
NM_000249.4(MLH1):c.147_177dup (p.Gln60delinsAspCysTer)
|
|
|
NM_000249.4(MLH1):c.1489_1490insCG (p.Arg497fs)
|
rs1553653037
|
|
NM_000249.4(MLH1):c.1489del (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1499del (p.Ile500fs)
|
rs2125902731
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
NM_000249.4(MLH1):c.1507del (p.Leu503fs)
|
rs2125902896
|
|
NM_000249.4(MLH1):c.1513del (p.Ser505fs)
|
|
|
NM_000249.4(MLH1):c.1520T>A (p.Leu507Ter)
|
|
|
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs)
|
rs876658821
|
|
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)
|
rs63749923
|
|
NM_000249.4(MLH1):c.152_164del (p.Val51fs)
|
|
|
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)
|
rs63751472
|
|
NM_000249.4(MLH1):c.1537del (p.Ile513fs)
|
|
|
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)
|
rs63751705
|
|
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
|
|
|
NM_000249.4(MLH1):c.1550dup (p.His518fs)
|
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1556_1558+1del
|
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+1dup
|
rs1553653237
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>T
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-59_1604del
|
|
|
NM_000249.4(MLH1):c.155_158del (p.Lys52fs)
|
rs587778923
|
|
NM_000249.4(MLH1):c.1560_1570delinsG (p.Leu521fs)
|
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.156dup (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1570_1571insAA (p.Met524fs)
|
|
|
NM_000249.4(MLH1):c.1571_1585delinsCTCC (p.Met524fs)
|
|
|
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)
|
rs587778929
|
|
NM_000249.4(MLH1):c.1578_1579dup (p.Asn527fs)
|
rs1553657971
|
|
NM_000249.4(MLH1):c.1578dup (p.Asn527Ter)
|
|
|
NM_000249.4(MLH1):c.1591del (p.Val531fs)
|
rs1553658009
|
|
NM_000249.4(MLH1):c.1595del (p.Gly532fs)
|
rs1575594377
|
|
NM_000249.4(MLH1):c.15del (p.Val7fs)
|
|
|
NM_000249.4(MLH1):c.1601del (p.Val534fs)
|
rs1559575143
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
NM_000249.4(MLH1):c.1609del (p.Gln537fs)
|
|
|
NM_000249.4(MLH1):c.160_161insT (p.Gly54fs)
|
|
|
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)
|
rs587778933
|
|
NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)
|
rs267607842
|
|
NM_000249.4(MLH1):c.1619del (p.Leu540fs)
|
|
|
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)
|
rs63750192
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1641_1642insC (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1641dup (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1644C>A (p.Tyr548Ter)
|
|
|
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)
|
rs63751087
|
|
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)
|
rs63750193
|
|
NM_000249.4(MLH1):c.1656del (p.Thr553fs)
|
rs876660589
|
|
NM_000249.4(MLH1):c.1657_1658insAA (p.Thr553fs)
|
|
|
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
NM_000249.4(MLH1):c.1667+1G>T
|
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-1G>C
|
|
|
NM_000249.4(MLH1):c.1668-2A>C
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668-2A>G
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)
|
rs63751244
|
|
NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)
|
rs63751081
|
|
NM_000249.4(MLH1):c.1673_1676dup (p.Phe560fs)
|
|
|
NM_000249.4(MLH1):c.1680del (p.Tyr561fs)
|
rs1553659334
|
|
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
NM_000249.4(MLH1):c.1686_1701dup (p.Phe568delinsAspThrHisLeuTer)
|
|
|
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)
|
rs863225376
|
|
NM_000249.4(MLH1):c.1688_1689insGGAT (p.Ile563fs)
|
|
|
NM_000249.4(MLH1):c.1689dup (p.Leu564fs)
|
rs63750464
|
|
NM_000249.4(MLH1):c.1693dup (p.Ile565fs)
|
|
|
NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs)
|
rs2125957613
|
|
NM_000249.4(MLH1):c.1696dup (p.Tyr566fs)
|
|
|
NM_000249.4(MLH1):c.169A>T (p.Lys57Ter)
|
|
|
NM_000249.4(MLH1):c.1704del (p.Phe568fs)
|
|
|
NM_000249.4(MLH1):c.1707del (p.Asn570fs)
|
rs2125957824
|
|
NM_000249.4(MLH1):c.170del (p.Lys57fs)
|
|
|
NM_000249.4(MLH1):c.1713del (p.Phe571fs)
|
rs2125957913
|
|
NM_000249.4(MLH1):c.1715del (p.Gly572fs)
|
|
|
NM_000249.4(MLH1):c.1718_1719del (p.Val573fs)
|
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1721_1722del (p.Leu574fs)
|
|
|
NM_000249.4(MLH1):c.1727T>A (p.Leu576Ter)
|
|
|
NM_000249.4(MLH1):c.1727T>G (p.Leu576Ter)
|
rs2125958240
|
|
NM_000249.4(MLH1):c.1728_1731+40del
|
|
|
NM_000249.4(MLH1):c.1730C>A (p.Ser577Ter)
|
rs56185292
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1del
|
|
|
NM_000249.4(MLH1):c.1731+4A>G
|
rs1553659500
|
|
NM_000249.4(MLH1):c.1731+5G>A
|
rs267607850
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1732-1G>T
|
|
|
NM_000249.4(MLH1):c.1732-2A>C
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-2A>G
|
rs267607852
|
|
NM_000249.4(MLH1):c.1736del (p.Pro579fs)
|
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
NM_000249.4(MLH1):c.1745T>A (p.Leu582His)
|
|
|
NM_000249.4(MLH1):c.1746del (p.Phe583fs)
|
rs876659068
|
|
NM_000249.4(MLH1):c.1747_1750dup (p.Asp584delinsValTer)
|
|
|
NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer)
|
rs63750309
|
|
NM_000249.4(MLH1):c.1749del (p.Phe583fs)
|
rs63750309
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
NM_000249.4(MLH1):c.1755_1757delinsG (p.Ala586fs)
|
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1765del (p.Ala589fs)
|
|
|
NM_000249.4(MLH1):c.1769T>A (p.Leu590Ter)
|
|
|
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)
|
rs1553662753
|
|
NM_000249.4(MLH1):c.1771del (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.177del (p.Gln60fs)
|
|
|
NM_000249.4(MLH1):c.1781dup (p.Ser595fs)
|
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
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.1791G>A (p.Trp597Ter)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1801dup (p.Asp601fs)
|
|
|
NM_000249.4(MLH1):c.1813G>T (p.Glu605Ter)
|
|
|
NM_000249.4(MLH1):c.1819del (p.Ala608fs)
|
|
|
NM_000249.4(MLH1):c.1821dup (p.Ala608fs)
|
rs587778947
|
|
NM_000249.4(MLH1):c.1827del (p.Glu609fs)
|
|
|
NM_000249.4(MLH1):c.1830C>A (p.Tyr610Ter)
|
|
|
NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter)
|
rs2125985283
|
|
NM_000249.4(MLH1):c.1832_1838dup (p.Glu613delinsAspCysTer)
|
|
|
NM_000249.4(MLH1):c.1837G>T (p.Glu613Ter)
|
|
|
NM_000249.4(MLH1):c.1837del (p.Glu613fs)
|
|
|
NM_000249.4(MLH1):c.1840_1870dup (p.Asp624delinsValSerGluGluGluGlyTer)
|
rs2085310643
|
|
NM_000249.4(MLH1):c.1843del (p.Phe614_Leu615insTer)
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1853del (p.Lys618fs)
|
rs1060500687
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1856_1862dup (p.Met621delinsIleTer)
|
|
|
NM_000249.4(MLH1):c.1858_1865dup (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1866del (p.Ala623fs)
|
rs587778950
|
|
NM_000249.4(MLH1):c.1867dup (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1868del (p.Ala623fs)
|
rs1575622163
|
|
NM_000249.4(MLH1):c.1874_1877del (p.Tyr625fs)
|
|
|
NM_000249.4(MLH1):c.1875T>A (p.Tyr625Ter)
|
|
|
NM_000249.4(MLH1):c.1877del (p.Phe626fs)
|
rs63750152
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
NM_000249.4(MLH1):c.1880_1881del (p.Ser627fs)
|
|
|
NM_000249.4(MLH1):c.1882_1883del (p.Leu628fs)
|
|
|
NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter)
|
rs1553663159
|
|
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)
|
rs63751639
|
|
NM_000249.4(MLH1):c.1885del (p.Glu629fs)
|
|
|
NM_000249.4(MLH1):c.1888del (p.Ile630fs)
|
rs2125986083
|
|
NM_000249.4(MLH1):c.188A>T (p.Asp63Val)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)
|
rs786201990
|
|
NM_000249.4(MLH1):c.1894G>T (p.Glu632Ter)
|
|
|
NM_000249.4(MLH1):c.1896+1G>A
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT
|
|
|
NM_000249.4(MLH1):c.1897G>T (p.Glu633Ter)
|
rs1057520627
|
|
NM_000249.4(MLH1):c.190_191del (p.Asn64fs)
|
rs63750469
|
|
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)
|
rs587778958
|
|
NM_000249.4(MLH1):c.1916del (p.Leu639fs)
|
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1921del (p.Leu641fs)
|
|
|
NM_000249.4(MLH1):c.1921dup (p.Leu641fs)
|
rs2125990255
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.1924_1925del (p.Leu642fs)
|
|
|
NM_000249.4(MLH1):c.1924del (p.Leu641_Leu642insTer)
|
|
|
NM_000249.4(MLH1):c.1929del (p.Ile643fs)
|
rs2085415927
|
|
NM_000249.4(MLH1):c.1934dup (p.Asn645fs)
|
|
|
NM_000249.4(MLH1):c.1937_1947del (p.Tyr646fs)
|
|
|
NM_000249.4(MLH1):c.1937delinsTTGGAGGGACTGCCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTTTGTGCCCCTT (p.Tyr646fs)
|
|
|
NM_000249.4(MLH1):c.1938T>G (p.Tyr646Ter)
|
|
|
NM_000249.4(MLH1):c.1939_1940insGCAAG (p.Val647fs)
|
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000249.4(MLH1):c.1946_1953delinsA (p.Pro649fs)
|
|
|
NM_000249.4(MLH1):c.1946del (p.Pro649fs)
|
rs281864938
|
|
NM_000249.4(MLH1):c.1946dup (p.Leu650fs)
|
|
|
NM_000249.4(MLH1):c.1954G>T (p.Gly652Ter)
|
|
|
NM_000249.4(MLH1):c.1955_1962del (p.Gly652fs)
|
|
|
NM_000249.4(MLH1):c.1955del (p.Gly652fs)
|
|
|
NM_000249.4(MLH1):c.1956dup (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.1957del (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)
|
rs63751202
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
NM_000249.4(MLH1):c.1963dup (p.Ile655fs)
|
|
|
NM_000249.4(MLH1):c.1969del (p.Ile657fs)
|
|
|
NM_000249.4(MLH1):c.1969dup (p.Ile657fs)
|
rs2085425585
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1975del (p.Arg659fs)
|
|
|
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)
|
rs63749900
|
|
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)
|
rs63749900
|
|
NM_000249.4(MLH1):c.197_207+20del
|
|
|
NM_000249.4(MLH1):c.1987G>T (p.Glu663Ter)
|
|
|
NM_000249.4(MLH1):c.1988A>G (p.Glu663Gly)
|
rs63751682
|
|
NM_000249.4(MLH1):c.1989+1G>A
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+5G>A
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989+5G>C
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989+5G>T
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1990-1G>A
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>C
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990_1994del (p.Val664fs)
|
|
|
NM_000249.4(MLH1):c.1994_1995insGT (p.Asn665fs)
|
|
|
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter)
|
rs886039424
|
|
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)
|
rs63750639
|
|
NM_000249.4(MLH1):c.1999del (p.Asp667fs)
|
rs2125992965
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.1A>G (p.Met1Val)
|
rs587778967
|
|
NM_000249.4(MLH1):c.1A>T (p.Met1Leu)
|
rs587778967
|
|
NM_000249.4(MLH1):c.2002G>T (p.Glu668Ter)
|
|
|
NM_000249.4(MLH1):c.2002del (p.Glu668fs)
|
|
|
NM_000249.4(MLH1):c.2005G>T (p.Glu669Ter)
|
|
|
NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs)
|
rs63750061
|
|
NM_000249.4(MLH1):c.2009del (p.Lys670fs)
|
rs63750740
|
|
NM_000249.4(MLH1):c.2009dup (p.Glu671fs)
|
rs63750740
|
|
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)
|
rs63750663
|
|
NM_000249.4(MLH1):c.2011del (p.Glu671fs)
|
|
|
NM_000249.4(MLH1):c.2019dup (p.Glu674Ter)
|
|
|
NM_000249.4(MLH1):c.201del (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.201dup (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.2029del (p.Ser677fs)
|
|
|
NM_000249.4(MLH1):c.2031_2041del (p.Lys678fs)
|
|
|
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)
|
rs1553664436
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2041_2042del (p.Ala681fs)
|
|
|
NM_000249.4(MLH1):c.2043dup (p.Met682fs)
|
rs2125993690
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2052T>G (p.Tyr684Ter)
|
|
|
NM_000249.4(MLH1):c.2062A>T (p.Lys688Ter)
|
|
|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)
|
rs41542214
|
|
NM_000249.4(MLH1):c.207+1G>C
|
|
|
NM_000249.4(MLH1):c.207+1G>T
|
rs267607718
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000249.4(MLH1):c.207+2T>G
|
rs267607722
|
|
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000249.4(MLH1):c.2071_2072insG (p.Ile691fs)
|
rs1575632112
|
|
NM_000249.4(MLH1):c.2072_2073insTT (p.Ser692fs)
|
|
|
NM_000249.4(MLH1):c.2072dup (p.Ser692fs)
|
|
|
NM_000249.4(MLH1):c.2073_2074del (p.Ile691_Ser692insTer)
|
|
|
NM_000249.4(MLH1):c.2077G>T (p.Glu693Ter)
|
|
|
NM_000249.4(MLH1):c.2077del (p.Glu693fs)
|
rs1575632215
|
|
NM_000249.4(MLH1):c.208-1G>A
|
rs267607717
|
|
NM_000249.4(MLH1):c.208-2A>C
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-2A>G
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-3C>A
|
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.208-5_262del
|
rs1575413885
|
|
NM_000249.4(MLH1):c.2080dup (p.Glu694fs)
|
rs1553664617
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2089del (p.Leu697fs)
|
rs1064793177
|
|
NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs)
|
rs63750859
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)
|
rs1553664702
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>T
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+3A>G
|
rs587778976
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2103_2103+3del
|
|
|
NM_000249.4(MLH1):c.2104-2A>T
|
rs267607889
|
|
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs)
|
|
|
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)
|
rs63751642
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.210del (p.Glu71fs)
|
|
|
NM_000249.4(MLH1):c.210dup (p.Glu71fs)
|
|
|
NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)
|
rs63749829
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)
|
rs63750499
|
|
NM_000249.4(MLH1):c.2138_2151del (p.Lys713fs)
|
rs2148522723
|
|
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.2144_2154del (p.Thr715fs)
|
|
|
NM_000249.4(MLH1):c.2148_2149del (p.Glu717fs)
|
rs1575639851
|
|
NM_000249.4(MLH1):c.2149del (p.Glu717fs)
|
|
|
NM_000249.4(MLH1):c.2154_2155del (p.Ile719fs)
|
rs63750971
|
|
NM_000249.4(MLH1):c.2164A>T (p.Lys722Ter)
|
|
|
NM_000249.4(MLH1):c.2173del (p.Arg725fs)
|
|
|
NM_000249.4(MLH1):c.2174_2181del (p.Arg725fs)
|
|
|
NM_000249.4(MLH1):c.2177C>A (p.Ser726Ter)
|
|
|
NM_000249.4(MLH1):c.2177C>G (p.Ser726Ter)
|
rs864622457
|
|
NM_000249.4(MLH1):c.2179_2182del (p.His727fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2187_2190del (p.Pro730fs)
|
|
|
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
|
|
|
NM_000249.4(MLH1):c.2192dup (p.Pro731_Lys732insTer)
|
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2194_2205delinsG (p.Lys732fs)
|
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2197_2198del (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter)
|
rs876659608
|
|
NM_000249.4(MLH1):c.2218dup (p.Ile740fs)
|
rs587778989
|
|
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)
|
rs587778992
|
|
NM_000249.4(MLH1):c.2236dup (p.Leu746fs)
|
rs1553665977
|
|
NM_000249.4(MLH1):c.223_229del (p.Ile75fs)
|
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2249dup (p.Tyr750Ter)
|
rs878853787
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2259del (p.Phe753fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)
|
rs267607892
|
|
NM_000249.4(MLH1):c.227del (p.Val76fs)
|
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.232del (p.Glu78fs)
|
rs587778997
|
|
NM_000249.4(MLH1):c.235del (p.Arg79fs)
|
|
|
NM_000249.4(MLH1):c.235dup (p.Arg79fs)
|
|
|
NM_000249.4(MLH1):c.237_238delinsTGTTATA (p.Arg79fs)
|
|
|
NM_000249.4(MLH1):c.237del (p.Arg79fs)
|
rs1575414387
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
NM_000249.4(MLH1):c.250A>T (p.Lys84Ter)
|
|
|
NM_000249.4(MLH1):c.252del (p.Lys84fs)
|
rs876660822
|
|
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)
|
rs63751421
|
|
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)
|
rs869312767
|
|
NM_000249.4(MLH1):c.264_265insC (p.Glu89fs)
|
|
|
NM_000249.4(MLH1):c.268del (p.Asp90fs)
|
rs1060500688
|
|
NM_000249.4(MLH1):c.272T>G (p.Leu91Ter)
|
rs63751137
|
|
NM_000249.4(MLH1):c.277_278dup (p.Ser93fs)
|
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.286delinsGC (p.Thr96fs)
|
|
|
NM_000249.4(MLH1):c.287_290del (p.Thr96fs)
|
|
|
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter)
|
rs1575414904
|
|
NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe)
|
rs1553640314
|
|
NM_000249.4(MLH1):c.2T>A (p.Met1Lys)
|
rs111052004
|
|
NM_000249.4(MLH1):c.2T>C (p.Met1Thr)
|
rs111052004
|
|
NM_000249.4(MLH1):c.2T>G (p.Met1Arg)
|
rs111052004
|
|
NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)
|
|
|
NM_000249.4(MLH1):c.306+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+2T>A
|
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.307-2A>G
|
rs267607732
|
|
NM_000249.4(MLH1):c.313dup (p.Ala105fs)
|
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)
|
rs63750507
|
|
NM_000249.4(MLH1):c.322dup (p.Ser108fs)
|
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
NM_000249.4(MLH1):c.332_353del (p.Ala111fs)
|
|
|
NM_000249.4(MLH1):c.339del (p.Thr114fs)
|
rs1553641295
|
|
NM_000249.4(MLH1):c.340dup (p.Thr114fs)
|
|
|
NM_000249.4(MLH1):c.342_363del (p.Ile115fs)
|
|
|
NM_000249.4(MLH1):c.345del (p.Thr116fs)
|
|
|
NM_000249.4(MLH1):c.34_36delinsTAA (p.Asp12Ter)
|
|
|
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)
|
rs2080891193
|
|
NM_000249.4(MLH1):c.34dup (p.Asp12fs)
|
rs1553637196
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.356_357insT (p.Ala120fs)
|
rs1575428643
|
|
NM_000249.4(MLH1):c.362dup (p.Asp121fs)
|
|
|
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
|
|
|
NM_000249.4(MLH1):c.36_38del (p.Asp12del)
|
|
|
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu)
|
rs1553641362
|
|
NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)
|
rs63751606
|
|
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37del (p.Glu13fs)
|
rs63750081
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1G>T
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+2T>A
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)
|
rs63751595
|
|
NM_000249.4(MLH1):c.381-1G>A
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
NM_000249.4(MLH1):c.386del (p.Ser129fs)
|
|
|
NM_000249.4(MLH1):c.388del (p.Tyr130fs)
|
rs587779009
|
|
NM_000249.4(MLH1):c.389del (p.Tyr130fs)
|
rs587779012
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.38del (p.Glu13fs)
|
|
|
NM_000249.4(MLH1):c.38dup (p.Thr14fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.390C>A (p.Tyr130Ter)
|
|
|
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter)
|
rs1060500689
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.393_396del (p.Asp132fs)
|
rs1559521039
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)
|
rs63751124
|
|
NM_000249.4(MLH1):c.39_40del (p.Glu13fs)
|
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.402_409del (p.Lys134fs)
|
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
NM_000249.4(MLH1):c.406_408delinsT (p.Lys136fs)
|
|
|
NM_000249.4(MLH1):c.408del (p.Ala137fs)
|
|
|
NM_000249.4(MLH1):c.413del (p.Pro138fs)
|
|
|
NM_000249.4(MLH1):c.418_443del (p.Lys140fs)
|
|
|
NM_000249.4(MLH1):c.41_42insG (p.Val15fs)
|
|
|
NM_000249.4(MLH1):c.420del (p.Lys140fs)
|
rs587779015
|
|
NM_000249.4(MLH1):c.423_430delinsTAAACCTAAACCTAAACCTAAA (p.Cys142fs)
|
|
|
NM_000249.4(MLH1):c.426_431delinsGGACC (p.Cys142fs)
|
|
|
NM_000249.4(MLH1):c.426del (p.Cys142fs)
|
|
|
NM_000249.4(MLH1):c.428_434delinsGG (p.Ala143fs)
|
|
|
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)
|
rs63749820
|
|
NM_000249.4(MLH1):c.436_438delinsG (p.Gln146fs)
|
|
|
NM_000249.4(MLH1):c.438del (p.Thr148fs)
|
|
|
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)
|
rs63751302
|
|
NM_000249.4(MLH1):c.453+1_453+2del
|
|
|
NM_000249.4(MLH1):c.453+2_453+7delinsGATC
|
rs1575441094
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-1G>T
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-2A>G
|
rs267607753
|
|
NM_000249.4(MLH1):c.457G>T (p.Glu153Ter)
|
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.461del (p.Asp154fs)
|
|
|
NM_000249.4(MLH1):c.462_466del (p.Phe156fs)
|
|
|
NM_000249.4(MLH1):c.463del (p.Leu155fs)
|
rs2082049708
|
|
NM_000249.4(MLH1):c.469del (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.471C>A (p.Tyr157Ter)
|
rs74396541
|
|
NM_000249.4(MLH1):c.473del (p.Asn158fs)
|
rs2082051355
|
|
NM_000249.4(MLH1):c.476del (p.Ile159fs)
|
|
|
NM_000249.4(MLH1):c.478del (p.Ala160fs)
|
|
|
NM_000249.4(MLH1):c.47_53del (p.Val16fs)
|
rs876658923
|
|
NM_000249.4(MLH1):c.487A>T (p.Arg163Ter)
|
|
|
NM_000249.4(MLH1):c.493del (p.Ala165fs)
|
rs1553642707
|
|
NM_000249.4(MLH1):c.503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.504del (p.Pro169fs)
|
|
|
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)
|
rs1559524405
|
|
NM_000249.4(MLH1):c.518dup (p.Tyr173Ter)
|
|
|
NM_000249.4(MLH1):c.526_527insC (p.Ile176fs)
|
|
|
NM_000249.4(MLH1):c.526del (p.Ile176fs)
|
rs1575449093
|
|
NM_000249.4(MLH1):c.52del (p.Arg18fs)
|
rs63749804
|
|
NM_000249.4(MLH1):c.530del (p.Leu177fs)
|
|
|
NM_000249.4(MLH1):c.53_56del (p.Arg18fs)
|
|
|
NM_000249.4(MLH1):c.542del (p.Gly181fs)
|
rs1553642777
|
|
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)
|
rs63750211
|
|
NM_000249.4(MLH1):c.545+1G>A
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+1G>T
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+2T>A
|
|
|
NM_000249.4(MLH1):c.545+2T>C
|
rs1575449402
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.546-2A>G
|
rs267607759
|
|
NM_000249.4(MLH1):c.549T>G (p.Tyr183Ter)
|
|
|
NM_000249.4(MLH1):c.54del (p.Ile19fs)
|
rs1575376414
|
|
NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)
|
rs1064796057
|
|
NM_000249.4(MLH1):c.55_79del (p.Ile19fs)
|
|
|
NM_000249.4(MLH1):c.561del (p.Asn187fs)
|
|
|
NM_000249.4(MLH1):c.566del (p.Gly189fs)
|
|
|
NM_000249.4(MLH1):c.567_568del (p.Gly189_Ile190insTer)
|
|
|
NM_000249.4(MLH1):c.569_584del (p.Ile190fs)
|
|
|
NM_000249.4(MLH1):c.576del (p.Ser193fs)
|
|
|
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)
|
rs63751480
|
|
NM_000249.4(MLH1):c.579del (p.Val194fs)
|
|
|
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+2T>A
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+2T>G
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.588dup (p.Gln197fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-1G>C
|
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)
|
rs1553644123
|
|
NM_000249.4(MLH1):c.589del (p.Gln197fs)
|
|
|
NM_000249.4(MLH1):c.592G>T (p.Gly198Ter)
|
rs2125808143
|
|
NM_000249.4(MLH1):c.606_607insTT (p.Asp203fs)
|
|
|
NM_000249.4(MLH1):c.615del (p.Thr206fs)
|
|
|
NM_000249.4(MLH1):c.632C>A (p.Ser211Ter)
|
|
|
NM_000249.4(MLH1):c.632C>G (p.Ser211Ter)
|
|
|
NM_000249.4(MLH1):c.648del (p.Arg217fs)
|
|
|
NM_000249.4(MLH1):c.64_65insC (p.Gly22fs)
|
|
|
NM_000249.4(MLH1):c.651delinsTTA (p.Ser218fs)
|
|
|
NM_000249.4(MLH1):c.654_655delinsG (p.Ile219fs)
|
|
|
NM_000249.4(MLH1):c.655dup (p.Ile219fs)
|
|
|
NM_000249.4(MLH1):c.659_677+25del
|
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.673_676del (p.Ser225fs)
|
rs267607774
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1G>C
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+5G>A
|
rs587779034
|
|
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.678-1G>A
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-1G>C
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-2A>G
|
rs587779035
|
|
NM_000249.4(MLH1):c.678-2del
|
|
|
NM_000249.4(MLH1):c.678-3T>A
|
rs267607785
|
|
NM_000249.4(MLH1):c.679G>T (p.Glu227Ter)
|
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.67dup (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.687del (p.Ile229fs)
|
rs2082522248
|
|
NM_000249.4(MLH1):c.688G>T (p.Glu230Ter)
|
rs1466223609
|
|
NM_000249.4(MLH1):c.691del (p.Ile231fs)
|
rs876658339
|
|
NM_000249.4(MLH1):c.691dup (p.Ile231fs)
|
|
|
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg)
|
rs1553645131
|
|
NM_000249.4(MLH1):c.698_699delinsAG (p.Cys233Ter)
|
|
|
NM_000249.4(MLH1):c.69del (p.Val24fs)
|
|
|
NM_000249.4(MLH1):c.700G>T (p.Glu234Ter)
|
|
|
NM_000249.4(MLH1):c.706A>T (p.Lys236Ter)
|
|
|
NM_000249.4(MLH1):c.724del (p.Lys241_Met242insTer)
|
|
|
NM_000249.4(MLH1):c.727_730del (p.Asn243fs)
|
rs267607787
|
|
NM_000249.4(MLH1):c.728dup (p.Asn243fs)
|
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.735C>A (p.Tyr245Ter)
|
rs1553645226
|
|
NM_000249.4(MLH1):c.742_743del (p.Asn248fs)
|
|
|
NM_000249.4(MLH1):c.749_754delinsC (p.Asn250fs)
|
|
|
NM_000249.4(MLH1):c.749del (p.Asn250fs)
|
|
|
NM_000249.4(MLH1):c.751del (p.Tyr251fs)
|
|
|
NM_000249.4(MLH1):c.753C>A (p.Tyr251Ter)
|
|
|
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)
|
rs63750310
|
|
NM_000249.4(MLH1):c.755C>A (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755del (p.Tyr251_Ser252insTer)
|
rs1064793172
|
|
NM_000249.4(MLH1):c.763A>T (p.Lys255Ter)
|
|
|
NM_000249.4(MLH1):c.764_765insT (p.Lys255fs)
|
|
|
NM_000249.4(MLH1):c.766dup (p.Cys256fs)
|
|
|
NM_000249.4(MLH1):c.768C>A (p.Cys256Ter)
|
rs1575481212
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000249.4(MLH1):c.771del (p.Phe258fs)
|
rs1553645301
|
|
NM_000249.4(MLH1):c.776T>A (p.Leu259Ter)
|
|
|
NM_000249.4(MLH1):c.779_786del (p.Leu260fs)
|
|
|
NM_000249.4(MLH1):c.77del (p.Gln26fs)
|
rs1575376830
|
|
NM_000249.4(MLH1):c.780_781del (p.Phe261fs)
|
|
|
NM_000249.4(MLH1):c.782del (p.Phe261fs)
|
|
|
NM_000249.4(MLH1):c.783dup (p.Ile262fs)
|
rs1553645331
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>T
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1del
|
rs267607798
|
|
NM_000249.4(MLH1):c.790+2T>A
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2T>G
|
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.790dup (p.His264fs)
|
|
|
NM_000249.4(MLH1):c.791-2A>C
|
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-2A>T
|
rs267607794
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.794_800del (p.Arg265fs)
|
rs876660458
|
|
NM_000249.4(MLH1):c.799_803del (p.Val267fs)
|
|
|
NM_000249.4(MLH1):c.802G>T (p.Glu268Ter)
|
|
|
NM_000249.4(MLH1):c.802del (p.Glu268fs)
|
|
|
NM_000249.4(MLH1):c.804del (p.Glu268fs)
|
|
|
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)
|
rs63750691
|
|
NM_000249.4(MLH1):c.813del (p.Ser271_Leu272insTer)
|
rs2125837018
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000249.4(MLH1):c.817A>T (p.Arg273Ter)
|
|
|
NM_000249.4(MLH1):c.822del (p.Ala275fs)
|
|
|
NM_000249.4(MLH1):c.829G>T (p.Glu277Ter)
|
|
|
NM_000249.4(MLH1):c.829del (p.Glu277fs)
|
|
|
NM_000249.4(MLH1):c.833_834del (p.Thr278fs)
|
|
|
NM_000249.4(MLH1):c.835_839dup (p.Tyr280Ter)
|
|
|
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)
|
rs63750792
|
|
NM_000249.4(MLH1):c.843del (p.Ala282fs)
|
|
|
NM_000249.4(MLH1):c.847dup (p.Tyr283fs)
|
|
|
NM_000249.4(MLH1):c.849T>G (p.Tyr283Ter)
|
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860dup (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.865del (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.866_867del (p.His289fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.869del (p.Pro290fs)
|
|
|
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)
|
rs63750216
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+1G>A
|
rs1553646764
|
|
NM_000249.4(MLH1):c.884+1_884+2del
|
|
|
NM_000249.4(MLH1):c.884+1_884+2insATGGG
|
|
|
NM_000249.4(MLH1):c.884+1del
|
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
NM_000249.4(MLH1):c.884+4A>G
|
rs267607777
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
|
|
|
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)
|
rs63750736
|
|
NM_000249.4(MLH1):c.892_905del (p.Ile298fs)
|
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000249.4(MLH1):c.917_918del (p.Asn306fs)
|
|
|
NM_000249.4(MLH1):c.918del (p.Asn306fs)
|
rs876660214
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.932del (p.Lys311fs)
|
|
|
NM_000249.4(MLH1):c.940del (p.Val314fs)
|
rs1553648023
|
|
NM_000249.4(MLH1):c.949del (p.Leu317fs)
|
rs1553648029
|
|
NM_000249.4(MLH1):c.94del (p.Ile32fs)
|
rs1064793607
|
|
NM_000249.4(MLH1):c.954del (p.His318fs)
|
rs63749926
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
NM_000249.4(MLH1):c.958G>T (p.Glu320Ter)
|
rs1553648040
|
|
NM_000249.4(MLH1):c.958del (p.Glu320fs)
|
|
|
NM_000249.4(MLH1):c.95dup (p.Lys33fs)
|
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
NM_000249.4(MLH1):c.961_962dup (p.Ser321fs)
|
rs878853794
|
|
NM_000249.4(MLH1):c.964del (p.Ile322fs)
|
|
|
NM_000249.4(MLH1):c.967dup (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000249.4(MLH1):c.970del (p.Glu324fs)
|
rs876658247
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
NM_000249.4(MLH1):c.979C>T (p.Gln327Ter)
|
rs587782087
|
|
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)
|
rs587779058
|
|
NM_000249.4(MLH1):c.984_997del (p.His329fs)
|
rs587782265
|
|
NM_000249.4(MLH1):c.986A>C (p.His329Pro)
|
rs63750710
|
|
NM_000249.4(MLH1):c.98_99dup (p.Glu34fs)
|
|
|
NM_000249.4(MLH1):c.991G>T (p.Glu331Ter)
|
|
|
NM_000249.4(MLH1):c.993del (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)
|
rs1553648149
|
|
NM_000249.4(MLH1):c.9del (p.Phe3fs)
|
rs63750745
|
|
NM_000251.1(MSH2):c.2006-1delG
|
|
|
NM_000251.3(MSH2):c.-15_211+105del
|
|
|
NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)
|
rs587779063
|
|
NM_000251.3(MSH2):c.1003del (p.Thr335fs)
|
rs1673074932
|
|
NM_000251.3(MSH2):c.1007del (p.Pro336fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.100del (p.Val34fs)
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)
|
|
|
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1014dup (p.Gln339fs)
|
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
NM_000251.3(MSH2):c.1018del (p.Arg340fs)
|
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.1024del (p.Val342fs)
|
|
|
NM_000251.3(MSH2):c.1026_1033del (p.Asn343fs)
|
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1030del (p.Gln344fs)
|
|
|
NM_000251.3(MSH2):c.1031del (p.Gln344fs)
|
|
|
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)
|
rs63751027
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)
|
rs979212552
|
|
NM_000251.3(MSH2):c.1042_1069dup (p.Glu357delinsAlaAlaSerHisGlyTer)
|
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
NM_000251.3(MSH2):c.1043_1044del (p.Gln348fs)
|
|
|
NM_000251.3(MSH2):c.1043del (p.Gln348fs)
|
rs1114167809
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1049del (p.Leu350fs)
|
|
|
NM_000251.3(MSH2):c.104_105dup (p.Leu36fs)
|
|
|
NM_000251.3(MSH2):c.1057A>T (p.Lys353Ter)
|
|
|
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1068del (p.Ile356fs)
|
rs1114167867
|
|
NM_000251.3(MSH2):c.1069G>T (p.Glu357Ter)
|
|
|
NM_000251.3(MSH2):c.106del (p.Leu36fs)
|
|
|
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
|
|
|
NM_000251.3(MSH2):c.1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1073dup (p.Arg359fs)
|
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1076_1077dup (p.Leu360fs)
|
rs1114167858
|
|
NM_000251.3(MSH2):c.1077-1G>A
|
|
|
NM_000251.3(MSH2):c.1077-1G>C
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-1G>T
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-2A>C
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>G
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>T
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)
|
rs63751617
|
|
NM_000251.3(MSH2):c.1077_1087delinsTTA (p.Arg359fs)
|
|
|
NM_000251.3(MSH2):c.1082_1083insG (p.Asn361fs)
|
|
|
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1090del (p.Glu364fs)
|
rs863225385
|
|
NM_000251.3(MSH2):c.1093del (p.Ala365fs)
|
|
|
NM_000251.3(MSH2):c.1099del (p.Phe366_Val367insTer)
|
rs587779073
|
|
NM_000251.3(MSH2):c.1102G>T (p.Glu368Ter)
|
rs1673931379
|
|
NM_000251.3(MSH2):c.1102_1162dup (p.Asn388delinsArgArgCysArgIleGluAlaAspPheThrArgArgPheThrSerSerIleProArgSerTer)
|
|
|
NM_000251.3(MSH2):c.1108dup (p.Ala370fs)
|
|
|
NM_000251.3(MSH2):c.110del (p.Phe37fs)
|
rs63751056
|
|
NM_000251.3(MSH2):c.1111G>T (p.Glu371Ter)
|
rs1060501994
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)
|
rs786203350
|
|
NM_000251.3(MSH2):c.1127T>A (p.Leu376Ter)
|
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1130_1136del (p.Gln377fs)
|
|
|
NM_000251.3(MSH2):c.1132_1133del (p.Glu378fs)
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1139del (p.Leu380fs)
|
rs63750039
|
|
NM_000251.3(MSH2):c.1142_1152del (p.Leu381fs)
|
|
|
NM_000251.3(MSH2):c.1144_1148del (p.Arg382fs)
|
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1147dup (p.Arg383fs)
|
|
|
NM_000251.3(MSH2):c.1151del (p.Phe384fs)
|
|
|
NM_000251.3(MSH2):c.1162_1163del (p.Asn388fs)
|
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1170del (p.Ala391fs)
|
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1178dup (p.Phe394fs)
|
|
|
NM_000251.3(MSH2):c.117_121del (p.Gly40fs)
|
|
|
NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)
|
rs63750302
|
|
NM_000251.3(MSH2):c.1183del (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.1189del (p.Gln397fs)
|
|
|
NM_000251.3(MSH2):c.1191_1195del (p.Gln397fs)
|
|
|
NM_000251.3(MSH2):c.1196del (p.Ala399fs)
|
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
NM_000251.3(MSH2):c.11dup (p.Pro5fs)
|
rs730881775
|
|
NM_000251.3(MSH2):c.1200_1213del (p.Asn400fs)
|
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1202T>G (p.Leu401Ter)
|
|
|
NM_000251.3(MSH2):c.1202_1255del (p.Leu401_Gln419delinsTer)
|
|
|
NM_000251.3(MSH2):c.1203dup (p.Gln402fs)
|
rs63750586
|
|
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1204_1231del (p.Leu401_Gln402insTer)
|
|
|
NM_000251.3(MSH2):c.1204del (p.Gln402fs)
|
rs63751413
|
|
NM_000251.3(MSH2):c.1208del (p.Asp403fs)
|
rs1553356678
|
|
NM_000251.3(MSH2):c.120dup (p.Asp41fs)
|
|
|
NM_000251.3(MSH2):c.1210del (p.Cys404fs)
|
rs587782777
|
|
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1216del (p.Arg406fs)
|
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1223dup (p.Tyr408Ter)
|
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
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.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)
|
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1239del (p.Gln413fs)
|
|
|
NM_000251.3(MSH2):c.1244_1245del (p.Pro415fs)
|
|
|
NM_000251.3(MSH2):c.1245_1246dup (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1245del (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs)
|
rs1553356720
|
|
NM_000251.3(MSH2):c.1247del (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)
|
rs587782561
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1252dup (p.Ile418fs)
|
rs1114167830
|
|
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)
|
rs63750006
|
|
NM_000251.3(MSH2):c.1260_1264del (p.Leu421fs)
|
|
|
NM_000251.3(MSH2):c.1261_1271delinsG (p.Leu421fs)
|
|
|
NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1269del (p.Lys423fs)
|
|
|
NM_000251.3(MSH2):c.1269dup (p.His424fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter)
|
rs1064795063
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1276+2T>G
|
|
|
NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)
|
|
|
NM_000251.3(MSH2):c.1277-1G>A
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-2A>C
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2A>G
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2A>T
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-4_1277-2delinsCTG
|
|
|
NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1282dup (p.His428fs)
|
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.1285del (p.Gln429fs)
|
rs1114167833
|
|
NM_000251.3(MSH2):c.1290del (p.Lys430fs)
|
|
|
NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)
|
rs63751315
|
|
NM_000251.3(MSH2):c.1298del (p.Leu433fs)
|
|
|
NM_000251.3(MSH2):c.1300del (p.Ala434fs)
|
|
|
NM_000251.3(MSH2):c.1300dup (p.Ala434fs)
|
|
|
NM_000251.3(MSH2):c.1308del (p.Phe436fs)
|
|
|
NM_000251.3(MSH2):c.1309del (p.Phe436_Val437insTer)
|
|
|
NM_000251.3(MSH2):c.1310del (p.Val437fs)
|
|
|
NM_000251.3(MSH2):c.1312del (p.Thr438fs)
|
|
|
NM_000251.3(MSH2):c.1316del (p.Pro439fs)
|
rs1573519371
|
|
NM_000251.3(MSH2):c.1318_1319del (p.Leu440fs)
|
rs587779083
|
|
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1320_1333del (p.Leu440_Thr441insTer)
|
|
|
NM_000251.3(MSH2):c.1321del (p.Thr441fs)
|
rs1675069387
|
|
NM_000251.3(MSH2):c.1321dup (p.Thr441fs)
|
rs63750807
|
|
NM_000251.3(MSH2):c.1324_1328dup (p.Arg444fs)
|
|
|
NM_000251.3(MSH2):c.132_136dup (p.His46fs)
|
|
|
NM_000251.3(MSH2):c.1337del (p.Asp446fs)
|
|
|
NM_000251.3(MSH2):c.1340dup (p.Ser448fs)
|
|
|
NM_000251.3(MSH2):c.1341_1343delinsTCAGGAAATGATAGAAA (p.Ser448fs)
|
|
|
NM_000251.3(MSH2):c.1344del (p.Lys449fs)
|
rs876658918
|
|
NM_000251.3(MSH2):c.1344dup (p.Lys449fs)
|
|
|
NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)
|
rs63749920
|
|
NM_000251.3(MSH2):c.1346dup (p.Phe450fs)
|
|
|
NM_000251.3(MSH2):c.1350del (p.Gln451fs)
|
rs1553361261
|
|
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)
|
rs786201066
|
|
NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)
|
rs63750957
|
|
NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1354_1355insT (p.Glu452fs)
|
rs1114167850
|
|
NM_000251.3(MSH2):c.1356_1360del (p.Glu452fs)
|
|
|
NM_000251.3(MSH2):c.1357del (p.Glu452_Met453insTer)
|
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
NM_000251.3(MSH2):c.1361_1364del (p.Ile454fs)
|
|
|
NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)
|
|
|
NM_000251.3(MSH2):c.1368_1369del (p.Thr457fs)
|
|
|
NM_000251.3(MSH2):c.1370_1373del (p.Thr457fs)
|
|
|
NM_000251.3(MSH2):c.1370del (p.Thr457fs)
|
|
|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
|
rs63750521
|
|
NM_000251.3(MSH2):c.1373del (p.Thr457_Leu458insTer)
|
rs1553361289
|
|
NM_000251.3(MSH2):c.1381del (p.Asp461fs)
|
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1384dup (p.Gln462fs)
|
rs2103760063
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+2T>C
|
rs1675076969
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1394del (p.Asn465fs)
|
rs863225390
|
|
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)
|
rs587779089
|
|
NM_000251.3(MSH2):c.1400_1410delinsT (p.Glu467fs)
|
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1401dup (p.Phe468fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1402_1429del (p.Phe468fs)
|
|
|
NM_000251.3(MSH2):c.1403dup (p.Leu469fs)
|
|
|
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)
|
rs63750384
|
|
NM_000251.3(MSH2):c.1409_1410delinsG (p.Val470fs)
|
|
|
NM_000251.3(MSH2):c.1413del (p.Lys471fs)
|
rs1553365719
|
|
NM_000251.3(MSH2):c.1413dup (p.Pro472fs)
|
|
|
NM_000251.3(MSH2):c.1415dup (p.Ser473fs)
|
rs1573547745
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.141_154del (p.Glu48fs)
|
rs863224481
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1431_1433delinsC (p.Leu478fs)
|
|
|
NM_000251.3(MSH2):c.1435_1436del (p.Leu478_Ser479insTer)
|
|
|
NM_000251.3(MSH2):c.1440del (p.Glu480fs)
|
|
|
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
|
rs1666728055
|
|
NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
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.1457_1460dup (p.Asp487delinsGluTer)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1458del (p.Asn486fs)
|
|
|
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs)
|
rs876658834
|
|
NM_000251.3(MSH2):c.1463T>A (p.Leu488Ter)
|
|
|
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1468_1469dup (p.Lys491fs)
|
|
|
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.1478del (p.Gln493fs)
|
rs1553365799
|
|
NM_000251.3(MSH2):c.1481C>A (p.Ser494Ter)
|
|
|
NM_000251.3(MSH2):c.1483del (p.Thr495fs)
|
|
|
NM_000251.3(MSH2):c.1485_1507del (p.Leu496fs)
|
|
|
NM_000251.3(MSH2):c.1486_1487dup (p.Leu496fs)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1486_1492del (p.Leu496fs)
|
|
|
NM_000251.3(MSH2):c.1487T>G (p.Leu496Ter)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1487_1490del (p.Thr495_Leu496insTer)
|
|
|
NM_000251.3(MSH2):c.1487del (p.Thr495_Leu496insTer)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1490dup (p.Ser498fs)
|
|
|
NM_000251.3(MSH2):c.1495del (p.Ala499fs)
|
|
|
NM_000251.3(MSH2):c.1498_1504dup (p.Asp502fs)
|
|
|
NM_000251.3(MSH2):c.1499_1502del (p.Ala500fs)
|
|
|
NM_000251.3(MSH2):c.1510+1G>T
|
|
|
NM_000251.3(MSH2):c.1510+2T>A
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511del (p.Gly504Alafs)
|
rs2104170912
|
|
NM_000251.3(MSH2):c.1520del (p.Pro507fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
NM_000251.3(MSH2):c.1532_1538del (p.Ile511fs)
|
|
|
NM_000251.3(MSH2):c.1533del (p.Lys512fs)
|
rs1114167853
|
|
NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)
|
rs1573553178
|
|
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs)
|
rs863225391
|
|
NM_000251.3(MSH2):c.1543del (p.Ser515fs)
|
|
|
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.1557del (p.Phe519fs)
|
rs1553366554
|
|
NM_000251.3(MSH2):c.1560del (p.Tyr521fs)
|
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
NM_000251.3(MSH2):c.1564del (p.Tyr522fs)
|
|
|
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)
|
rs1064793561
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1569del (p.Arg524fs)
|
|
|
NM_000251.3(MSH2):c.1569dup (p.Arg524fs)
|
|
|
NM_000251.3(MSH2):c.1570del (p.Arg524fs)
|
rs1064795653
|
|
NM_000251.3(MSH2):c.1572del (p.Arg524_Val525insTer)
|
|
|
NM_000251.3(MSH2):c.1576del (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1576dup (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1578del (p.Cys527fs)
|
rs63750738
|
|
NM_000251.3(MSH2):c.1579dup (p.Cys527fs)
|
rs1553366583
|
|
NM_000251.3(MSH2):c.1585G>T (p.Glu529Ter)
|
|
|
NM_000251.3(MSH2):c.1587_1597delinsT (p.Glu529fs)
|
rs1114167820
|
|
NM_000251.3(MSH2):c.1588G>T (p.Glu530Ter)
|
|
|
NM_000251.3(MSH2):c.1592_1593del (p.Lys531fs)
|
|
|
NM_000251.3(MSH2):c.1593del (p.Val532fs)
|
rs1558511051
|
|
NM_000251.3(MSH2):c.1593dup (p.Val532fs)
|
|
|
NM_000251.3(MSH2):c.1597dup (p.Leu533fs)
|
|
|
NM_000251.3(MSH2):c.1600del (p.Arg534fs)
|
|
|
NM_000251.3(MSH2):c.1601del (p.Arg534fs)
|
|
|
NM_000251.3(MSH2):c.1602dup (p.Asn535Ter)
|
|
|
NM_000251.3(MSH2):c.1604del (p.Asn535fs)
|
|
|
NM_000251.3(MSH2):c.1605del (p.Asn535fs)
|
|
|
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)
|
rs980244810
|
|
NM_000251.3(MSH2):c.160del (p.Ala54fs)
|
rs876660480
|
|
NM_000251.3(MSH2):c.1613del (p.Asn538fs)
|
rs1558511092
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
NM_000251.3(MSH2):c.1618del (p.Ser540fs)
|
rs1573553636
|
|
NM_000251.3(MSH2):c.1627del (p.Asp543fs)
|
rs63750675
|
|
NM_000251.3(MSH2):c.162_163del (p.Arg55fs)
|
|
|
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)
|
rs1666904987
|
|
NM_000251.3(MSH2):c.1637_1641del (p.Lys546fs)
|
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)
|
rs1114167835
|
|
NM_000251.3(MSH2):c.1650del (p.Lys550fs)
|
|
|
NM_000251.3(MSH2):c.1651_1654del (p.Phe551fs)
|
|
|
NM_000251.3(MSH2):c.1656del (p.Asn553fs)
|
rs1114167817
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>C
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1662-2A>T
|
rs267607971
|
|
NM_000251.3(MSH2):c.1665del (p.Lys555fs)
|
rs63751120
|
|
NM_000251.3(MSH2):c.1666_1672del (p.Leu556_Thr557insTer)
|
rs1064794071
|
|
NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)
|
rs587779101
|
|
NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)
|
rs587779102
|
|
NM_000251.3(MSH2):c.1673_1684del (p.Ser558_Glu562delinsTer)
|
|
|
NM_000251.3(MSH2):c.1673del (p.Ser558fs)
|
rs1573560283
|
|
NM_000251.3(MSH2):c.1676_1681del (p.Leu559_Glu561delinsTer)
|
|
|
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)
|
rs63750633
|
|
NM_000251.3(MSH2):c.1679del (p.Asn560fs)
|
rs63750054
|
|
NM_000251.3(MSH2):c.167_185del (p.Glu56fs)
|
|
|
NM_000251.3(MSH2):c.167del (p.Glu56fs)
|
|
|
NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)
|
rs63750328
|
|
NM_000251.3(MSH2):c.1681del (p.Glu561fs)
|
|
|
NM_000251.3(MSH2):c.1683dup (p.Glu562fs)
|
|
|
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)
|
rs1114167816
|
|
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)
|
rs587779103
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1697dup (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)
|
rs63750474
|
|
NM_000251.3(MSH2):c.1702dup (p.Thr568fs)
|
rs587779105
|
|
NM_000251.3(MSH2):c.1705G>T (p.Glu569Ter)
|
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1706_1719delinsCATAA (p.Glu569_Ala573delinsAlaTer)
|
|
|
NM_000251.3(MSH2):c.1707del (p.Glu569fs)
|
|
|
NM_000251.3(MSH2):c.1710T>A (p.Tyr570Ter)
|
|
|
NM_000251.3(MSH2):c.1710T>G (p.Tyr570Ter)
|
|
|
NM_000251.3(MSH2):c.1711G>T (p.Glu571Ter)
|
|
|
NM_000251.3(MSH2):c.171_172del (p.Phe58fs)
|
|
|
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)
|
rs63751298
|
|
NM_000251.3(MSH2):c.1721del (p.Gln574fs)
|
|
|
NM_000251.3(MSH2):c.1724del (p.Asp575fs)
|
|
|
NM_000251.3(MSH2):c.1728_1746dup (p.Asn583delinsHisCysTer)
|
|
|
NM_000251.3(MSH2):c.1728del (p.Ile577fs)
|
|
|
NM_000251.3(MSH2):c.1728dup (p.Ile577fs)
|
rs1573560572
|
|
NM_000251.3(MSH2):c.1737del (p.Glu580fs)
|
|
|
NM_000251.3(MSH2):c.1737dup (p.Glu580fs)
|
|
|
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)
|
rs63751411
|
|
NM_000251.3(MSH2):c.1738_1741del (p.Glu580fs)
|
rs1057524910
|
|
NM_000251.3(MSH2):c.173_211+2147del
|
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.174dup (p.Lys59fs)
|
rs1672250622
|
|
NM_000251.3(MSH2):c.1753del (p.Ser585fs)
|
rs63751433
|
|
NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)
|
rs1114167854
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+2T>A
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1759G>T (p.Gly587Cys)
|
rs63751140
|
|
NM_000251.3(MSH2):c.175A>T (p.Lys59Ter)
|
rs771255106
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1760-2_1783del
|
rs1064795329
|
|
NM_000251.3(MSH2):c.1761_1765dup (p.Val589fs)
|
|
|
NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter)
|
rs63750844
|
|
NM_000251.3(MSH2):c.1770del (p.Glu590fs)
|
rs1573566217
|
|
NM_000251.3(MSH2):c.1771_1772insA (p.Pro591fs)
|
rs267607977
|
|
NM_000251.3(MSH2):c.1774dup (p.Met592fs)
|
|
|
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)
|
rs63750200
|
|
NM_000251.3(MSH2):c.1777_1789del (p.Gln593fs)
|
|
|
NM_000251.3(MSH2):c.1782dup (p.Leu595fs)
|
rs876658940
|
|
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)
|
rs786201590
|
|
NM_000251.3(MSH2):c.1784dup (p.Asn596fs)
|
rs1553368518
|
|
NM_000251.3(MSH2):c.1785_1787del (p.Asn596del)
|
|
|
NM_000251.3(MSH2):c.1785_1788delinsATGCAGGCTATGTAGACAATGCA (p.Asn596fs)
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1787dup (p.Asn596fs)
|
rs587779111
|
|
NM_000251.3(MSH2):c.1792_1796del (p.Val598fs)
|
rs1573566411
|
|
NM_000251.3(MSH2):c.1793del (p.Val598fs)
|
rs786202790
|
|
NM_000251.3(MSH2):c.1794_1803del (p.Val598_Leu599insTer)
|
rs1553368540
|
|
NM_000251.3(MSH2):c.1796T>A (p.Leu599Ter)
|
|
|
NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)
|
|
|
NM_000251.3(MSH2):c.1798_1886del (p.Ala600fs)
|
|
|
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1803dup (p.Leu602fs)
|
rs786203704
|
|
NM_000251.3(MSH2):c.1804_1807dup (p.Asp603fs)
|
|
|
NM_000251.3(MSH2):c.1807G>C (p.Asp603His)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1808del (p.Asp603fs)
|
|
|
NM_000251.3(MSH2):c.1809dup (p.Ala604fs)
|
rs1114167876
|
|
NM_000251.3(MSH2):c.180_189delinsACCCCC (p.Gln61fs)
|
|
|
NM_000251.3(MSH2):c.1810_1811delinsACTGTTGTCAGCT (p.Ala604fs)
|
|
|
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del)
|
rs1553368576
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1821del (p.Phe608fs)
|
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.1829_1867delinsGA (p.His610fs)
|
|
|
NM_000251.3(MSH2):c.1831_1838del (p.Val611fs)
|
|
|
NM_000251.3(MSH2):c.1832del (p.Val611fs)
|
|
|
NM_000251.3(MSH2):c.1832dup (p.Ser612fs)
|
|
|
NM_000251.3(MSH2):c.1834del (p.Ser612fs)
|
rs1114167879
|
|
NM_000251.3(MSH2):c.1835C>A (p.Ser612Ter)
|
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
NM_000251.3(MSH2):c.1839_1845dup (p.Pro616fs)
|
|
|
NM_000251.3(MSH2):c.1839_1846dup (p.Pro616fs)
|
|
|
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)
|
rs1380847972
|
|
NM_000251.3(MSH2):c.1840_1841delinsA (p.Gly614fs)
|
|
|
NM_000251.3(MSH2):c.1843_1844del (p.Ala615fs)
|
rs1114167856
|
|
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)
|
rs1573566787
|
|
NM_000251.3(MSH2):c.1853del (p.Pro618fs)
|
rs267607984
|
|
NM_000251.3(MSH2):c.1854_1857del (p.Val620fs)
|
rs1573566819
|
|
NM_000251.3(MSH2):c.1856_1857insG (p.Tyr619Ter)
|
|
|
NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)
|
rs63750312
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865del (p.Pro622fs)
|
|
|
NM_000251.3(MSH2):c.1869del (p.Ile624fs)
|
|
|
NM_000251.3(MSH2):c.186_187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1874del (p.Leu625fs)
|
|
|
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)
|
rs1667240403
|
|
NM_000251.3(MSH2):c.1876dup (p.Glu626fs)
|
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1881del (p.Gly628fs)
|
|
|
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1883del (p.Gly628fs)
|
rs1064795127
|
|
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)
|
rs63750203
|
|
NM_000251.3(MSH2):c.1888G>T (p.Gly630Ter)
|
rs1114167866
|
|
NM_000251.3(MSH2):c.1889del (p.Gly630fs)
|
|
|
NM_000251.3(MSH2):c.1892_1902del (p.Arg631fs)
|
|
|
NM_000251.3(MSH2):c.1893_1899dup (p.Leu634fs)
|
|
|
NM_000251.3(MSH2):c.1894_1916del (p.Ile632fs)
|
|
|
NM_000251.3(MSH2):c.1897_1906del (p.Ile633fs)
|
|
|
NM_000251.3(MSH2):c.1899_1900del (p.Leu634fs)
|
rs1573567022
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1905del (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.1916_1919dup (p.Val642fs)
|
|
|
NM_000251.3(MSH2):c.1916_1927delinsT (p.His639fs)
|
|
|
NM_000251.3(MSH2):c.1921del (p.Cys641fs)
|
rs1573567132
|
|
NM_000251.3(MSH2):c.1923_1927del (p.Cys641_Glu643delinsTer)
|
|
|
NM_000251.3(MSH2):c.1924_1928delinsTTTC (p.Val642fs)
|
rs1114167882
|
|
NM_000251.3(MSH2):c.1927G>T (p.Glu643Ter)
|
|
|
NM_000251.3(MSH2):c.1928_1929del (p.Glu643fs)
|
|
|
NM_000251.3(MSH2):c.192del (p.Lys65fs)
|
|
|
NM_000251.3(MSH2):c.192dup (p.Lys65fs)
|
rs1553348896
|
|
NM_000251.3(MSH2):c.1930del (p.Val644fs)
|
rs1114167823
|
|
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)
|
rs267607982
|
|
NM_000251.3(MSH2):c.1934_1944del (p.Gln645fs)
|
|
|
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
|
|
|
NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs)
|
rs1553368675
|
|
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)
|
rs1114167844
|
|
NM_000251.3(MSH2):c.1953del (p.Pro652fs)
|
|
|
NM_000251.3(MSH2):c.1958del (p.Asn653fs)
|
|
|
NM_000251.3(MSH2):c.1960dup (p.Asp654fs)
|
|
|
NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968_1969delinsAC (p.Tyr656_Phe657delinsTer)
|
rs1573567451
|
|
NM_000251.3(MSH2):c.1968del (p.Phe657fs)
|
rs1114167805
|
|
NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)
|
|
|
NM_000251.3(MSH2):c.1972_1982del (p.Glu658fs)
|
|
|
NM_000251.3(MSH2):c.1977del (p.Asp660fs)
|
|
|
NM_000251.3(MSH2):c.1977dup (p.Asp660fs)
|
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)
|
rs1553368707
|
|
NM_000251.3(MSH2):c.1983dup (p.Gln662fs)
|
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1985dup (p.Met663fs)
|
rs1573567537
|
|
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs)
|
rs587779122
|
|
NM_000251.3(MSH2):c.1986del (p.Met663fs)
|
rs63749929
|
|
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.1997_2005+4del
|
|
|
NM_000251.3(MSH2):c.1997del (p.Ile666fs)
|
|
|
NM_000251.3(MSH2):c.1998_1999dup (p.Ile667fs)
|
|
|
NM_000251.3(MSH2):c.19del (p.Glu7fs)
|
|
|
NM_000251.3(MSH2):c.2003del (p.Thr668fs)
|
rs1573567630
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>C
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2005+2T>G
|
rs267607987
|
|
NM_000251.3(MSH2):c.2006-1G>A
|
|
|
NM_000251.3(MSH2):c.2006-1G>C
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-2A>C
|
|
|
NM_000251.3(MSH2):c.2006-2A>T
|
rs267607991
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2013del (p.Asn671fs)
|
rs1553368988
|
|
NM_000251.3(MSH2):c.2017G>T (p.Gly673Ter)
|
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
NM_000251.3(MSH2):c.2023A>T (p.Lys675Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
NM_000251.3(MSH2):c.2034T>A (p.Tyr678Ter)
|
rs1558519611
|
|
NM_000251.3(MSH2):c.2035_2036del (p.Ile679fs)
|
rs587779129
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)
|
rs1203462814
|
|
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2046_2047del (p.Val684fs)
|
rs587779131
|
|
NM_000251.3(MSH2):c.2049_2050del (p.Val684fs)
|
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.2050del (p.Gly683_Val684insTer)
|
|
|
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg)
|
rs1667303602
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2068C>T (p.Gln690Ter)
|
|
|
NM_000251.3(MSH2):c.206del (p.Pro69fs)
|
rs1553348904
|
|
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2076dup (p.Cys693fs)
|
|
|
NM_000251.3(MSH2):c.2078del (p.Cys693fs)
|
|
|
NM_000251.3(MSH2):c.2079T>A (p.Cys693Ter)
|
rs1553369089
|
|
NM_000251.3(MSH2):c.2080_2081delinsG (p.Phe694fs)
|
|
|
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)
|
rs1114167857
|
|
NM_000251.3(MSH2):c.2082del (p.Phe694fs)
|
rs63750689
|
|
NM_000251.3(MSH2):c.2084_2085del (p.Val695fs)
|
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2091_2092del (p.Cys697_Glu698delinsTer)
|
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.210_211insAGGGGCCGGCA (p.Gly71fs)
|
|
|
NM_000251.3(MSH2):c.211+1G>T
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+2T>G
|
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.2116del (p.Asp706fs)
|
rs1553369131
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.211G>T (p.Gly71Ter)
|
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-1G>T
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-1_221delinsCAC
|
rs876660533
|
|
NM_000251.3(MSH2):c.212-478T>G
|
rs587779138
|
|
NM_000251.3(MSH2):c.2121_2125del (p.Ile708fs)
|
|
|
NM_000251.3(MSH2):c.2126T>G (p.Leu709Ter)
|
|
|
NM_000251.3(MSH2):c.2128del (p.Ala710fs)
|
rs1114167864
|
|
NM_000251.3(MSH2):c.2141del (p.Ala714fs)
|
|
|
NM_000251.3(MSH2):c.2148_2149del (p.Asp716fs)
|
|
|
NM_000251.3(MSH2):c.2148_2149dup (p.Ser717fs)
|
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)
|
rs1060502032
|
|
NM_000251.3(MSH2):c.2167_2168del (p.Ser723fs)
|
|
|
NM_000251.3(MSH2):c.2169_2188dup (p.Leu730fs)
|
|
|
NM_000251.3(MSH2):c.2175_2185delinsG (p.Phe725fs)
|
|
|
NM_000251.3(MSH2):c.2175del (p.Phe725fs)
|
|
|
NM_000251.3(MSH2):c.217_227del (p.Lys73fs)
|
rs1114167863
|
|
NM_000251.3(MSH2):c.2185del (p.Met729fs)
|
|
|
NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)
|
rs63749802
|
|
NM_000251.3(MSH2):c.21_22insGT (p.Thr8fs)
|
|
|
NM_000251.3(MSH2):c.2203_2207dup (p.Arg737fs)
|
|
|
NM_000251.3(MSH2):c.2210+1G>A
|
rs267608002
|
|
NM_000251.3(MSH2):c.2211-1G>T
|
rs267607979
|
|
NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs)
|
rs1573573619
|
|
NM_000251.3(MSH2):c.2222_2223del (p.Lys741fs)
|
rs1667386244
|
|
NM_000251.3(MSH2):c.2224_2236del (p.Asp742fs)
|
|
|
NM_000251.3(MSH2):c.2227dup (p.Ser743fs)
|
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)
|
rs63750403
|
|
NM_000251.3(MSH2):c.2231_2252del (p.Ser743_Leu744insTer)
|
|
|
NM_000251.3(MSH2):c.2236dup (p.Ile746fs)
|
rs863225392
|
|
NM_000251.3(MSH2):c.2237dup (p.Ile747fs)
|
|
|
NM_000251.3(MSH2):c.2238del (p.Ile746_Ile747insTer)
|
rs1667387473
|
|
NM_000251.3(MSH2):c.223_224del (p.Leu75fs)
|
rs63750712
|
|
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2246_2250del (p.Glu749fs)
|
rs1553369665
|
|
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2251G>T (p.Gly751Ter)
|
|
|
NM_000251.3(MSH2):c.2252del (p.Gly751fs)
|
|
|
NM_000251.3(MSH2):c.2253_2283del (p.Gly751_Arg752insTer)
|
|
|
NM_000251.3(MSH2):c.2258del (p.Gly753fs)
|
|
|
NM_000251.3(MSH2):c.2264_2265del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.2264del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.2265_2271del (p.Thr756fs)
|
|
|
NM_000251.3(MSH2):c.2267_2268insGTAG (p.Thr756_Tyr757insTer)
|
rs1558521605
|
|
NM_000251.3(MSH2):c.2268del (p.Tyr757fs)
|
|
|
NM_000251.3(MSH2):c.2269dup (p.Tyr757fs)
|
rs1114167824
|
|
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)
|
rs63750042
|
|
NM_000251.3(MSH2):c.2270dup (p.Tyr757Ter)
|
|
|
NM_000251.3(MSH2):c.2272_2274delinsAG (p.Asp758fs)
|
|
|
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)
|
rs63749854
|
|
NM_000251.3(MSH2):c.2280del (p.Phe760fs)
|
rs2104401876
|
|
NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)
|
|
|
NM_000251.3(MSH2):c.2285T>G (p.Leu762Ter)
|
|
|
NM_000251.3(MSH2):c.2288del (p.Ala763fs)
|
|
|
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)
|
rs587779143
|
|
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)
|
rs863225393
|
|
NM_000251.3(MSH2):c.2297del (p.Ile766fs)
|
rs863225394
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2306dup (p.Tyr769Ter)
|
|
|
NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)
|
|
|
NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)
|
rs1573574086
|
|
NM_000251.3(MSH2):c.2311del (p.Ala771fs)
|
|
|
NM_000251.3(MSH2):c.2314del (p.Thr772fs)
|
rs1114167862
|
|
NM_000251.3(MSH2):c.2317_2333del (p.Lys773fs)
|
|
|
NM_000251.3(MSH2):c.2318_2340del (p.Lys773fs)
|
|
|
NM_000251.3(MSH2):c.2325dup (p.Ala776fs)
|
|
|
NM_000251.3(MSH2):c.2332del (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2332dup (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2333_2334delinsT (p.Cys778fs)
|
rs1114167872
|
|
NM_000251.3(MSH2):c.2333dup (p.Cys778fs)
|
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2339_2340dup (p.Ala781fs)
|
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
|
|
NM_000251.3(MSH2):c.2346_2353del (p.Thr782_His783insTer)
|
|
|
NM_000251.3(MSH2):c.2352del (p.His785fs)
|
rs1667395869
|
|
NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)
|
rs2104405386
|
|
NM_000251.3(MSH2):c.2358del (p.Glu786fs)
|
|
|
NM_000251.3(MSH2):c.2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)
|
rs63750463
|
|
NM_000251.3(MSH2):c.2367del (p.Leu790fs)
|
rs1667397201
|
|
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)
|
rs730881769
|
|
NM_000251.3(MSH2):c.237del (p.Ser81fs)
|
|
|
NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs)
|
rs1114167832
|
|
NM_000251.3(MSH2):c.2381dup (p.Pro795fs)
|
|
|
NM_000251.3(MSH2):c.2388del (p.Val797fs)
|
rs63749983
|
|
NM_000251.3(MSH2):c.2392_2396delinsG (p.Asn798fs)
|
|
|
NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)
|
rs1114167826
|
|
NM_000251.3(MSH2):c.2393del (p.Asn798fs)
|
|
|
NM_000251.3(MSH2):c.2396_2397del (p.Asn799fs)
|
|
|
NM_000251.3(MSH2):c.2396dup (p.Asn799fs)
|
|
|
NM_000251.3(MSH2):c.2399del (p.Leu800fs)
|
|
|
NM_000251.3(MSH2):c.2402del (p.His801fs)
|
|
|
NM_000251.3(MSH2):c.2407dup (p.Thr803fs)
|
|
|
NM_000251.3(MSH2):c.2413dup (p.Leu805fs)
|
rs1114167837
|
|
NM_000251.3(MSH2):c.2416dup (p.Thr806fs)
|
|
|
NM_000251.3(MSH2):c.2420del (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.2421_2422delinsCT (p.Glu808Ter)
|
rs1553369812
|
|
NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)
|
rs34986638
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2427_2428del (p.Glu809fs)
|
|
|
NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer)
|
|
|
NM_000251.3(MSH2):c.2434del (p.Thr812fs)
|
|
|
NM_000251.3(MSH2):c.2437_2438dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2443_2445delinsAA (p.Tyr815fs)
|
|
|
NM_000251.3(MSH2):c.2443del (p.Tyr815fs)
|
|
|
NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)
|
rs1667403360
|
|
NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)
|
rs63749917
|
|
NM_000251.3(MSH2):c.2455A>T (p.Lys819Ter)
|
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
NM_000251.3(MSH2):c.2458+1G>T
|
rs267608010
|
|
NM_000251.3(MSH2):c.2459-1G>A
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-2A>C
|
|
|
NM_000251.3(MSH2):c.2459-2A>G
|
rs267608011
|
|
NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)
|
|
|
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)
|
rs1114167828
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.246_247delinsC (p.Lys82fs)
|
|
|
NM_000251.3(MSH2):c.246_247delinsT (p.Lys82fs)
|
|
|
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2474del (p.Ser825fs)
|
rs1573578423
|
|
NM_000251.3(MSH2):c.2478del (p.Phe826fs)
|
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2488del (p.Val830fs)
|
|
|
NM_000251.3(MSH2):c.2490del (p.Ala831fs)
|
|
|
NM_000251.3(MSH2):c.2491del (p.Ala831fs)
|
|
|
NM_000251.3(MSH2):c.2492_2493dup (p.Glu832fs)
|
|
|
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)
|
rs863225396
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2504_2505del (p.Asn835fs)
|
|
|
NM_000251.3(MSH2):c.2507del (p.Phe836fs)
|
rs63750008
|
|
NM_000251.3(MSH2):c.251del (p.Asn84fs)
|
rs786202037
|
|
NM_000251.3(MSH2):c.2520_2521del (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer)
|
rs587779147
|
|
NM_000251.3(MSH2):c.2522_2523del (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2523_2527dup (p.Cys843Ter)
|
|
|
NM_000251.3(MSH2):c.2523dup (p.Glu842fs)
|
rs1553370366
|
|
NM_000251.3(MSH2):c.2524G>T (p.Glu842Ter)
|
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2529_2530del (p.Cys843_Ala844insTer)
|
rs63749975
|
|
NM_000251.3(MSH2):c.2533A>T (p.Lys845Ter)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2534_2537del (p.Lys845fs)
|
|
|
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)
|
rs63750857
|
|
NM_000251.3(MSH2):c.2539_2542del (p.Lys847fs)
|
rs1667496297
|
|
NM_000251.3(MSH2):c.2540_2541del (p.Lys847fs)
|
|
|
NM_000251.3(MSH2):c.2544_2551del (p.Ala848_Leu849insTer)
|
|
|
NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)
|
|
|
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs)
|
rs1553370381
|
|
NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000251.3(MSH2):c.2557G>T (p.Glu853Ter)
|
rs1553370397
|
|
NM_000251.3(MSH2):c.2557dup (p.Glu853fs)
|
|
|
NM_000251.3(MSH2):c.255del (p.Phe85fs)
|
rs63751158
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.2563del (p.Gln855fs)
|
|
|
NM_000251.3(MSH2):c.256G>T (p.Glu86Ter)
|
|
|
NM_000251.3(MSH2):c.256del (p.Glu86fs)
|
|
|
NM_000251.3(MSH2):c.2573del (p.Gly858fs)
|
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2584G>T (p.Gly862Ter)
|
rs876660297
|
|
NM_000251.3(MSH2):c.2585dup (p.Tyr863fs)
|
rs1553370431
|
|
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)
|
rs1553370435
|
|
NM_000251.3(MSH2):c.2589T>A (p.Tyr863Ter)
|
|
|
NM_000251.3(MSH2):c.2593_2594del (p.Ile865fs)
|
|
|
NM_000251.3(MSH2):c.2593dup (p.Ile865fs)
|
rs1553370443
|
|
NM_000251.3(MSH2):c.2597dup (p.Met866fs)
|
|
|
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)
|
|
|
NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)
|
rs1573579206
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+2T>C
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634+2T>G
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-1G>A
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-1G>C
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)
|
rs63751469
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.2664del (p.Ser889fs)
|
|
|
NM_000251.3(MSH2):c.2668A>T (p.Lys890Ter)
|
rs1114167880
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.26_39del (p.Leu9fs)
|
|
|
NM_000251.3(MSH2):c.270del (p.Asp91fs)
|
|
|
NM_000251.3(MSH2):c.274del (p.Leu92fs)
|
|
|
NM_000251.3(MSH2):c.276_277insA (p.Leu93fs)
|
|
|
NM_000251.3(MSH2):c.280del (p.Leu94fs)
|
|
|
NM_000251.3(MSH2):c.285_300del (p.Arg96fs)
|
|
|
NM_000251.3(MSH2):c.285dup (p.Arg96fs)
|
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.289del (p.Gln97fs)
|
rs1114167808
|
|
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
|
|
|
NM_000251.3(MSH2):c.294_295del (p.Tyr98_Arg99delinsTer)
|
rs1553350167
|
|
NM_000251.3(MSH2):c.296_308del (p.Arg99fs)
|
|
|
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)
|
rs63750318
|
|
NM_000251.3(MSH2):c.301del (p.Glu101fs)
|
|
|
NM_000251.3(MSH2):c.307del (p.Tyr103fs)
|
|
|
NM_000251.3(MSH2):c.308del (p.Tyr103fs)
|
|
|
NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)
|
|
|
NM_000251.3(MSH2):c.309del (p.Val102_Tyr103insTer)
|
rs1114167874
|
|
NM_000251.3(MSH2):c.319delinsAATAAGGCATC (p.Ala107fs)
|
|
|
NM_000251.3(MSH2):c.321del (p.Gly108fs)
|
rs1573436948
|
|
NM_000251.3(MSH2):c.322G>T (p.Gly108Ter)
|
|
|
NM_000251.3(MSH2):c.329_338del (p.Lys110fs)
|
|
|
NM_000251.3(MSH2):c.331dup (p.Ala111fs)
|
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)
|
rs1558457486
|
|
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)
|
rs879254025
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.362del (p.Tyr121fs)
|
rs1114167831
|
|
NM_000251.3(MSH2):c.363T>A (p.Tyr121Ter)
|
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.363_364del (p.Tyr121_Lys122delinsTer)
|
|
|
NM_000251.3(MSH2):c.363_364dup (p.Lys122fs)
|
|
|
NM_000251.3(MSH2):c.365delinsCGG (p.Lys122fs)
|
rs1114167829
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.370del (p.Ser124fs)
|
|
|
NM_000251.3(MSH2):c.374del (p.Pro125fs)
|
|
|
NM_000251.3(MSH2):c.376_385delinsCA (p.Gly126fs)
|
|
|
NM_000251.3(MSH2):c.377del (p.Gly126fs)
|
rs2104017390
|
|
NM_000251.3(MSH2):c.379_380del (p.Asn127fs)
|
|
|
NM_000251.3(MSH2):c.380del (p.Asn127fs)
|
|
|
NM_000251.3(MSH2):c.380dup (p.Asn127fs)
|
rs1558458884
|
|
NM_000251.3(MSH2):c.385_388del (p.Gln130fs)
|
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
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.393_435dup (p.Gly146Ter)
|
|
|
NM_000251.3(MSH2):c.394G>T (p.Glu132Ter)
|
|
|
NM_000251.3(MSH2):c.394_395insTT (p.Glu132fs)
|
|
|
NM_000251.3(MSH2):c.400_401del (p.Ile134fs)
|
|
|
NM_000251.3(MSH2):c.408del (p.Phe136fs)
|
rs63750408
|
|
NM_000251.3(MSH2):c.416del (p.Asn139fs)
|
rs63750401
|
|
NM_000251.3(MSH2):c.420_421insTT (p.Met141fs)
|
|
|
NM_000251.3(MSH2):c.420dup (p.Met141fs)
|
rs1114167810
|
|
NM_000251.3(MSH2):c.421_422del (p.Met141fs)
|
rs1553350680
|
|
NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.425dup (p.Ala143fs)
|
|
|
NM_000251.3(MSH2):c.440_444dup (p.Gly149fs)
|
|
|
NM_000251.3(MSH2):c.441del (p.Val148fs)
|
|
|
NM_000251.3(MSH2):c.443del (p.Val148fs)
|
rs1553350721
|
|
NM_000251.3(MSH2):c.454dup (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.465_466delinsA (p.Asp156fs)
|
rs1114167884
|
|
NM_000251.3(MSH2):c.465dup (p.Asp156Ter)
|
|
|
NM_000251.3(MSH2):c.466del (p.Asp156fs)
|
rs1573440880
|
|
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)
|
rs63751226
|
|
NM_000251.3(MSH2):c.474del (p.Arg159fs)
|
|
|
NM_000251.3(MSH2):c.475_481del (p.Arg159fs)
|
|
|
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)
|
rs63751426
|
|
NM_000251.3(MSH2):c.47_60del (p.Glu16fs)
|
|
|
NM_000251.3(MSH2):c.482T>A (p.Val161Asp)
|
rs63750126
|
|
NM_000251.3(MSH2):c.483del (p.Gly162fs)
|
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.484G>T (p.Gly162Ter)
|
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
NM_000251.3(MSH2):c.490G>C (p.Gly164Arg)
|
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)
|
rs786204082
|
|
NM_000251.3(MSH2):c.491delinsAT (p.Gly164fs)
|
|
|
NM_000251.3(MSH2):c.492del (p.Tyr165fs)
|
|
|
NM_000251.3(MSH2):c.494del (p.Tyr165fs)
|
|
|
NM_000251.3(MSH2):c.495T>A (p.Tyr165Ter)
|
|
|
NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)
|
rs63749949
|
|
NM_000251.3(MSH2):c.497dup (p.Asp167fs)
|
|
|
NM_000251.3(MSH2):c.501_502del (p.Ser168fs)
|
|
|
NM_000251.3(MSH2):c.502del (p.Ser168fs)
|
|
|
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)
|
rs63750843
|
|
NM_000251.3(MSH2):c.511_583dup (p.Gly195delinsGluGluThrArgThrValTer)
|
rs1553350789
|
|
NM_000251.3(MSH2):c.512_513insAT (p.Arg171_Lys172insTer)
|
|
|
NM_000251.3(MSH2):c.516del (p.Lys172fs)
|
|
|
NM_000251.3(MSH2):c.51_61del (p.Gly18fs)
|
|
|
NM_000251.3(MSH2):c.520G>T (p.Gly174Ter)
|
|
|
NM_000251.3(MSH2):c.525_532del (p.Cys176fs)
|
rs1114167877
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)
|
rs63750382
|
|
NM_000251.3(MSH2):c.530_533delinsTTC (p.Glu177fs)
|
|
|
NM_000251.3(MSH2):c.534_547del (p.Phe178fs)
|
|
|
NM_000251.3(MSH2):c.535_536del (p.Phe178_Pro179insTer)
|
rs1114167812
|
|
NM_000251.3(MSH2):c.536del (p.Pro179fs)
|
rs1114167812
|
|
NM_000251.3(MSH2):c.540_541del (p.Asp180fs)
|
|
|
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)
|
rs63750037
|
|
NM_000251.3(MSH2):c.547del (p.Gln183fs)
|
|
|
NM_000251.3(MSH2):c.549_550del (p.Gln183fs)
|
|
|
NM_000251.3(MSH2):c.54_55insG (p.Phe19fs)
|
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)
|
rs63751444
|
|
NM_000251.3(MSH2):c.562G>T (p.Glu188Ter)
|
|
|
NM_000251.3(MSH2):c.563del (p.Glu188fs)
|
rs1114167885
|
|
NM_000251.3(MSH2):c.565_566dup (p.Leu191fs)
|
rs1114167855
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)
|
rs63751326
|
|
NM_000251.3(MSH2):c.582dup (p.Gly195fs)
|
|
|
NM_000251.3(MSH2):c.583G>T (p.Gly195Ter)
|
|
|
NM_000251.3(MSH2):c.587del (p.Pro196fs)
|
rs63750682
|
|
NM_000251.3(MSH2):c.590del (p.Lys197fs)
|
rs2104035729
|
|
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)
|
rs587779166
|
|
NM_000251.3(MSH2):c.592dup (p.Glu198fs)
|
rs63750786
|
|
NM_000251.3(MSH2):c.598_599del (p.Val200fs)
|
|
|
NM_000251.3(MSH2):c.598_599dup (p.Leu201fs)
|
|
|
NM_000251.3(MSH2):c.599_600insAT (p.Leu201fs)
|
|
|
NM_000251.3(MSH2):c.602T>A (p.Leu201Ter)
|
rs1114167839
|
|
NM_000251.3(MSH2):c.608_619GAG[2]AGACTGGGTGAGGAGAGACTG[1] (p.Ala207delinsGlyTer)
|
|
|
NM_000251.3(MSH2):c.608_620delinsAGGAA (p.Gly203fs)
|
|
|
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)
|
rs63750574
|
|
NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)
|
rs63749984
|
|
NM_000251.3(MSH2):c.613del (p.Glu205fs)
|
|
|
NM_000251.3(MSH2):c.622G>T (p.Gly208Ter)
|
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.629del (p.Met210fs)
|
|
|
NM_000251.3(MSH2):c.633del (p.Lys212fs)
|
rs1114167821
|
|
NM_000251.3(MSH2):c.634A>T (p.Lys212Ter)
|
|
|
NM_000251.3(MSH2):c.636dup (p.Leu213fs)
|
rs1573442039
|
|
NM_000251.3(MSH2):c.638_639del (p.Leu213fs)
|
rs63751622
|
|
NM_000251.3(MSH2):c.638del (p.Leu213fs)
|
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.643_644del (p.Gln215fs)
|
rs1573442100
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+1G>C
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+2T>G
|
rs876658996
|
|
NM_000251.3(MSH2):c.646-1G>A
|
|
|
NM_000251.3(MSH2):c.646-1G>C
|
rs1114167888
|
|
NM_000251.3(MSH2):c.646-2A>G
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-3T>G
|
rs267607930
|
|
NM_000251.3(MSH2):c.646-4_655del
|
rs1114167851
|
|
NM_000251.3(MSH2):c.647_648insTG (p.Ile217fs)
|
|
|
NM_000251.3(MSH2):c.647del (p.Ile216fs)
|
|
|
NM_000251.3(MSH2):c.648_649dup (p.Ile217fs)
|
|
|
NM_000251.3(MSH2):c.650_654del (p.Ile217fs)
|
rs63751602
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.655A>T (p.Arg219Ter)
|
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.657_658del (p.Gly220fs)
|
|
|
NM_000251.3(MSH2):c.657del (p.Gly220fs)
|
|
|
NM_000251.3(MSH2):c.658G>T (p.Gly220Ter)
|
|
|
NM_000251.3(MSH2):c.676G>T (p.Glu226Ter)
|
|
|
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.680del (p.Arg227fs)
|
|
|
NM_000251.3(MSH2):c.681_682delinsC (p.Arg227fs)
|
|
|
NM_000251.3(MSH2):c.681_689delinsGAAAAAGG (p.Ala230fs)
|
|
|
NM_000251.3(MSH2):c.684_687del (p.Lys229fs)
|
|
|
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)
|
rs63750364
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.689del (p.Ala230fs)
|
|
|
NM_000251.3(MSH2):c.68_69del (p.Phe23fs)
|
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.699del (p.Thr234fs)
|
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.705del (p.Asp236fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.709del (p.Ile237fs)
|
|
|
NM_000251.3(MSH2):c.710_715delinsAAAGGTTCCACAAA (p.Ile237fs)
|
|
|
NM_000251.3(MSH2):c.710_716del (p.Ile237fs)
|
rs1114167807
|
|
NM_000251.3(MSH2):c.712del (p.Tyr238fs)
|
|
|
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)
|
rs369670665
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.71_80dup (p.Glu28fs)
|
|
|
NM_000251.3(MSH2):c.721del (p.Leu241fs)
|
rs1573446832
|
|
NM_000251.3(MSH2):c.723del (p.Asn242fs)
|
|
|
NM_000251.3(MSH2):c.727del (p.Arg243fs)
|
|
|
NM_000251.3(MSH2):c.729dup (p.Leu244fs)
|
rs1553351651
|
|
NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)
|
|
|
NM_000251.3(MSH2):c.731del (p.Leu244fs)
|
rs876660655
|
|
NM_000251.3(MSH2):c.742A>T (p.Lys248Ter)
|
|
|
NM_000251.3(MSH2):c.746del (p.Lys249fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.746dup (p.Glu251fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.749del (p.Gly250fs)
|
|
|
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)
|
rs63750347
|
|
NM_000251.3(MSH2):c.759del (p.Met253fs)
|
rs63751160
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
NM_000251.3(MSH2):c.761dup (p.Asn254fs)
|
|
|
NM_000251.3(MSH2):c.763del (p.Ser255fs)
|
|
|
NM_000251.3(MSH2):c.764_776del (p.Ser255fs)
|
|
|
NM_000251.3(MSH2):c.765dup (p.Ala256fs)
|
|
|
NM_000251.3(MSH2):c.770_786del (p.Val257fs)
|
|
|
NM_000251.3(MSH2):c.778_780delinsTT (p.Glu260fs)
|
|
|
NM_000251.3(MSH2):c.784G>T (p.Glu262Ter)
|
|
|
NM_000251.3(MSH2):c.789del (p.Gln264fs)
|
|
|
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)
|
rs878853824
|
|
NM_000251.3(MSH2):c.790dup (p.Gln264fs)
|
rs1114167814
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1_792+2inv
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
NM_000251.3(MSH2):c.792+2T>G
|
rs587782408
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.793-2A>T
|
|
|
NM_000251.3(MSH2):c.796_797del (p.Ala266fs)
|
|
|
NM_000251.3(MSH2):c.7del (p.Val3fs)
|
|
|
NM_000251.3(MSH2):c.802_839del (p.Ser268fs)
|
|
|
NM_000251.3(MSH2):c.802del (p.Ser268fs)
|
|
|
NM_000251.3(MSH2):c.802dup (p.Ser268fs)
|
|
|
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)
|
rs563410947
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.806C>G (p.Ser269Ter)
|
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
NM_000251.3(MSH2):c.810_811del (p.Ser271fs)
|
rs63751133
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.812_813del (p.Ser271fs)
|
rs1573451108
|
|
NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)
|
rs63751246
|
|
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830del (p.Phe276_Leu277insTer)
|
rs2104168299
|
|
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)
|
rs1558464008
|
|
NM_000251.3(MSH2):c.839T>A (p.Leu280Ter)
|
|
|
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
|
|
|
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.842_942+89del
|
|
|
NM_000251.3(MSH2):c.843_844insT (p.Asp282Ter)
|
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
NM_000251.3(MSH2):c.850dup (p.Ser284fs)
|
rs1114167860
|
|
NM_000251.3(MSH2):c.857_858del (p.Phe286fs)
|
|
|
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)
|
rs63750276
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.867dup (p.Glu290Ter)
|
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000251.3(MSH2):c.868_869del (p.Glu290fs)
|
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)
|
rs587779191
|
|
NM_000251.3(MSH2):c.873del (p.Thr292fs)
|
|
|
NM_000251.3(MSH2):c.874_875del (p.Thr292fs)
|
rs1573451595
|
|
NM_000251.3(MSH2):c.876dup (p.Thr293fs)
|
rs1553352505
|
|
NM_000251.3(MSH2):c.879delinsGTA (p.Phe294fs)
|
|
|
NM_000251.3(MSH2):c.882del (p.Phe294fs)
|
rs63751115
|
|
NM_000251.3(MSH2):c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe296_Ser297delinsTyrPhePheSerIleTer)
|
rs1573451662
|
|
NM_000251.3(MSH2):c.887del (p.Phe296fs)
|
|
|
NM_000251.3(MSH2):c.888del (p.Phe296fs)
|
rs587779192
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)
|
|
|
NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)
|
rs879254104
|
|
NM_000251.3(MSH2):c.898_899dup (p.Met300fs)
|
rs63750885
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.908del (p.Asp303fs)
|
|
|
NM_000251.3(MSH2):c.913dup (p.Ala305fs)
|
rs786203604
|
|
NM_000251.3(MSH2):c.917_918del (p.Ala306fs)
|
|
|
NM_000251.3(MSH2):c.924_925del (p.Arg308fs)
|
|
|
NM_000251.3(MSH2):c.924_925dup (p.Ala309fs)
|
|
|
NM_000251.3(MSH2):c.928_934del (p.Leu310fs)
|
|
|
NM_000251.3(MSH2):c.928del (p.Asn311fs)
|
rs1064793179
|
|
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)
|
rs63750640
|
|
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)
|
rs63750640
|
|
NM_000251.3(MSH2):c.929_930insA (p.Leu310_Asn311insTer)
|
|
|
NM_000251.3(MSH2):c.92_93insTGGT (p.Thr32fs)
|
|
|
NM_000251.3(MSH2):c.930del (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.932_933insGA (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
NM_000251.3(MSH2):c.933_934insAA (p.Leu312fs)
|
|
|
NM_000251.3(MSH2):c.939del (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.939dup (p.Gln314fs)
|
|
|
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)
|
rs1114167845
|
|
NM_000251.3(MSH2):c.942+1G>A
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+1G>C
|
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+2T>C
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2T>G
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2_942+11del
|
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
NM_000251.3(MSH2):c.943-1G>A
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.944del (p.Gly315Valfs)
|
rs1673064965
|
|
NM_000251.3(MSH2):c.946_961del (p.Ser316fs)
|
|
|
NM_000251.3(MSH2):c.946del (p.Ser316fs)
|
|
|
NM_000251.3(MSH2):c.948dup (p.Val317fs)
|
|
|
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
|
|
|
NM_000251.3(MSH2):c.955_958del (p.Asp319fs)
|
|
|
NM_000251.3(MSH2):c.957_958del (p.Thr320fs)
|
|
|
NM_000251.3(MSH2):c.958_959del (p.Thr320fs)
|
rs1673067879
|
|
NM_000251.3(MSH2):c.959_962del (p.Thr320fs)
|
rs1114167825
|
|
NM_000251.3(MSH2):c.960del (p.Thr321fs)
|
|
|
NM_000251.3(MSH2):c.963del (p.Gly322fs)
|
|
|
NM_000251.3(MSH2):c.965del (p.Gly322fs)
|
rs2104243932
|
|
NM_000251.3(MSH2):c.965dup (p.Ser323fs)
|
|
|
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)
|
rs63750502
|
|
NM_000251.3(MSH2):c.970_971del (p.Gln324fs)
|
rs63751044
|
|
NM_000251.3(MSH2):c.970_977del (p.Gln324fs)
|
|
|
NM_000251.3(MSH2):c.971dup (p.Ser325fs)
|
|
|
NM_000251.3(MSH2):c.979_982del (p.Ala327fs)
|
|
|
NM_000251.3(MSH2):c.986T>A (p.Leu329Ter)
|
|
|
NM_000251.3(MSH2):c.989dup (p.Asn331fs)
|
rs1114167813
|
|
NM_000251.3(MSH2):c.98del (p.Thr33fs)
|
rs1573423412
|
|
NM_000251.3(MSH2):c.992del (p.Asn331fs)
|
|
|
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)
|
rs63750468
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000251.3(MSH2):c.998_999del (p.Lys332_Cys333insTer)
|
rs2104247018
|
|
NM_000251.3(MSH2):c.998del (p.Cys333fs)
|
|
|
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)
|
rs1553353167
|
|
NM_000264.3(PTCH1):c.3450delG
|
rs1131691001
|
|
NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs)
|
rs1554699612
|
|
NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter)
|
rs1131690970
|
|
NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer)
|
rs1131691002
|
|
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)
|
rs1432645175
|
|
NM_000264.5(PTCH1):c.1334del (p.Gly445fs)
|
rs1131690978
|
|
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs)
|
rs1588602354
|
|
NM_000264.5(PTCH1):c.1350del (p.Ala451fs)
|
rs1588601051
|
|
NM_000264.5(PTCH1):c.1355del (p.Tyr452fs)
|
|
|
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)
|
rs1131690974
|
|
NM_000264.5(PTCH1):c.1504-2A>C
|
rs1131690984
|
|
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)
|
rs1060502268
|
|
NM_000264.5(PTCH1):c.1603-2A>C
|
rs1064793921
|
|
NM_000264.5(PTCH1):c.1694_1697del (p.Ile565fs)
|
|
|
NM_000264.5(PTCH1):c.1755dup (p.Ala586fs)
|
|
|
NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter)
|
rs863224650
|
|
NM_000264.5(PTCH1):c.1842del (p.Phe614fs)
|
rs1131690991
|
|
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.202-2A>C
|
rs878853849
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
NM_000264.5(PTCH1):c.2028C>A (p.Tyr676Ter)
|
|
|
NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter)
|
rs1554695039
|
|
NM_000264.5(PTCH1):c.2140C>T (p.Gln714Ter)
|
|
|
NM_000264.5(PTCH1):c.2144dup (p.Ser716fs)
|
|
|
NM_000264.5(PTCH1):c.2178dup (p.Cys727fs)
|
rs2118030407
|
|
NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter)
|
rs1131690992
|
|
NM_000264.5(PTCH1):c.2197_2198del (p.Ser733fs)
|
rs1060502292
|
|
NM_000264.5(PTCH1):c.2251-2A>G
|
rs2117976305
|
|
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)
|
rs766313615
|
|
NM_000264.5(PTCH1):c.2435_2438del (p.Asp811_Tyr812insTer)
|
rs2117958655
|
|
NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs)
|
rs863225467
|
|
NM_000264.5(PTCH1):c.2560+1G>T
|
|
|
NM_000264.5(PTCH1):c.2585dup (p.Asp862fs)
|
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
NM_000264.5(PTCH1):c.2598del (p.Ile868fs)
|
rs1131690975
|
|
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs)
|
rs2118879343
|
|
NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs)
|
rs1131690972
|
|
NM_000264.5(PTCH1):c.2794del (p.Val932fs)
|
rs1131690997
|
|
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)
|
rs1554708753
|
|
NM_000264.5(PTCH1):c.2822del (p.Ile941fs)
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)
|
rs1587693508
|
|
NM_000264.5(PTCH1):c.2872del (p.Glu958fs)
|
|
|
NM_000264.5(PTCH1):c.2929del (p.Tyr977fs)
|
|
|
NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter)
|
rs1131690968
|
|
NM_000264.5(PTCH1):c.297C>T (p.Gly99=)
|
rs772407797
|
|
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)
|
rs747234651
|
|
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer)
|
rs1131690980
|
|
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs)
|
rs1588539623
|
|
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)
|
rs1060502301
|
|
NM_000264.5(PTCH1):c.3250dup (p.Val1084fs)
|
rs1588535611
|
|
NM_000264.5(PTCH1):c.3298_3306+3del
|
|
|
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)
|
rs1060502273
|
|
NM_000264.5(PTCH1):c.3459del (p.Phe1153fs)
|
rs1131690976
|
|
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
|
|
|
NM_000264.5(PTCH1):c.371_387del (p.Asn124fs)
|
rs1554708626
|
|
NM_000264.5(PTCH1):c.394+1G>A
|
rs1131690995
|
|
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
|
rs1131690986
|
|
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)
|
rs1344258746
|
|
NM_000264.5(PTCH1):c.456del (p.Met152fs)
|
|
|
NM_000264.5(PTCH1):c.482_491del (p.Thr161fs)
|
rs1131690981
|
|
NM_000264.5(PTCH1):c.497del (p.Gly166fs)
|
|
|
NM_000264.5(PTCH1):c.585-15_586del
|
|
|
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
|
|
|
NM_000264.5(PTCH1):c.613A>T (p.Lys205Ter)
|
|
|
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter)
|
rs1554700647
|
|
NM_000264.5(PTCH1):c.665_666del (p.Tyr222fs)
|
rs1131690993
|
|
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter)
|
rs1588614178
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000264.5(PTCH1):c.715dup (p.Ala239fs)
|
rs1131690971
|
|
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)
|
rs1060502281
|
|
NM_000264.5(PTCH1):c.746+1G>C
|
rs1131690994
|
|
NM_000264.5(PTCH1):c.805_806dup (p.Lys270fs)
|
|
|
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)
|
rs1131690969
|
|
NM_000264.5(PTCH1):c.877_887del (p.Asp293fs)
|
rs1131690973
|
|
NM_000264.5(PTCH1):c.886del (p.Cys296fs)
|
rs1131690987
|
|
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
|
|
|
NM_000264.5(PTCH1):c.945+1G>A
|
rs863224444
|
|
NM_000264.5(PTCH1):c.945+2T>C
|
rs1131690979
|
|
NM_000264.5(PTCH1):c.954dup (p.Met319fs)
|
|
|
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
|
|
|
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter)
|
rs74315499
|
|
NM_000268.4(NF2):c.1029_1050del (p.Lys343fs)
|
|
|
NM_000268.4(NF2):c.1282C>T (p.Gln428Ter)
|
|
|
NM_000268.4(NF2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter)
|
rs74315504
|
|
NM_000268.4(NF2):c.1463del (p.Pro488fs)
|
|
|
NM_000268.4(NF2):c.1507del (p.Asp503fs)
|
|
|
NM_000268.4(NF2):c.1575-1G>C
|
|
|
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter)
|
rs2147122581
|
|
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter)
|
rs2147122623
|
|
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter)
|
rs878853925
|
|
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)
|
rs121434259
|
|
NM_000268.4(NF2):c.1737+1G>T
|
rs1556003799
|
|
NM_000268.4(NF2):c.465dup (p.Ser156fs)
|
|
|
NM_000268.4(NF2):c.493del (p.Gln165fs)
|
|
|
NM_000268.4(NF2):c.531T>G (p.Tyr177Ter)
|
|
|
NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)
|
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
NM_000268.4(NF2):c.599+1G>A
|
rs1555993352
|
|
NM_000268.4(NF2):c.610G>T (p.Glu204Ter)
|
|
|
NM_000268.4(NF2):c.663C>G (p.Tyr221Ter)
|
rs2146990737
|
|
NM_000268.4(NF2):c.745A>T (p.Arg249Ter)
|
|
|
NM_000268.4(NF2):c.970C>T (p.Gln324Ter)
|
|
|
NM_000268.4(NF2):c.979G>T (p.Glu327Ter)
|
|
|
NM_000314.4:c.419_420insALU
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
|
|
|
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter)
|
rs786201816
|
|
NM_000314.8(PTEN):c.1026+1G>A
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+1G>C
|
rs786201041
|
|
NM_000314.8(PTEN):c.1026+2T>G
|
rs1114167624
|
|
NM_000314.8(PTEN):c.1027-1G>A
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-1G>C
|
rs1057517809
|
|
NM_000314.8(PTEN):c.1027-2A>G
|
rs1085308041
|
|
NM_000314.8(PTEN):c.1030A>T (p.Lys344Ter)
|
|
|
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg)
|
rs786202517
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.110_111del (p.Phe37fs)
|
rs1114167636
|
|
NM_000314.8(PTEN):c.1116_1119del (p.Glu373fs)
|
rs1554826049
|
|
NM_000314.8(PTEN):c.1212A>C (p.Ter404Cys)
|
rs876660879
|
|
NM_000314.8(PTEN):c.127G>T (p.Glu43Ter)
|
rs1554893808
|
|
NM_000314.8(PTEN):c.127dup (p.Glu43fs)
|
rs1554893810
|
|
NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs)
|
rs786202894
|
|
NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter)
|
rs1114167672
|
|
NM_000314.8(PTEN):c.138C>G (p.Tyr46Ter)
|
|
|
NM_000314.8(PTEN):c.139A>G (p.Arg47Gly)
|
rs786204855
|
|
NM_000314.8(PTEN):c.141del (p.Asn48fs)
|
rs1114167670
|
|
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)
|
rs762518389
|
|
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys)
|
rs762518389
|
|
NM_000314.8(PTEN):c.161dup (p.Arg55fs)
|
|
|
NM_000314.8(PTEN):c.164+1G>A
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>C
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>T
|
rs1554893835
|
|
NM_000314.8(PTEN):c.165-1G>A
|
rs786203847
|
|
NM_000314.8(PTEN):c.165-2A>G
|
rs1085308043
|
|
NM_000314.8(PTEN):c.165-2A>T
|
|
|
NM_000314.8(PTEN):c.165-3_165del
|
rs1554897249
|
|
NM_000314.8(PTEN):c.166_167delinsA (p.Phe56fs)
|
rs1114167681
|
|
NM_000314.8(PTEN):c.170del (p.Leu57fs)
|
|
|
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)
|
rs1554897262
|
|
NM_000314.8(PTEN):c.179del (p.Lys60fs)
|
rs1114167671
|
|
NM_000314.8(PTEN):c.17_18del (p.Lys6fs)
|
rs121913290
|
|
NM_000314.8(PTEN):c.18dup (p.Glu7fs)
|
rs121913290
|
|
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter)
|
rs878853936
|
|
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)
|
rs878853936
|
|
NM_000314.8(PTEN):c.195del (p.His64_Tyr65insTer)
|
rs1589640495
|
|
NM_000314.8(PTEN):c.199del (p.Ile67fs)
|
rs1114167669
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.206del (p.Asn69fs)
|
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+1G>C
|
|
|
NM_000314.8(PTEN):c.209+1G>T
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+4_209+7del
|
rs398123318
|
|
NM_000314.8(PTEN):c.209+5G>A
|
rs1114167650
|
|
NM_000314.8(PTEN):c.210-1G>A
|
rs1114167621
|
|
NM_000314.8(PTEN):c.219_220dup (p.Arg74fs)
|
rs1114167677
|
|
NM_000314.8(PTEN):c.219_253+46del
|
|
|
NM_000314.8(PTEN):c.21_22del (p.Glu7fs)
|
rs786204881
|
|
NM_000314.8(PTEN):c.220A>T (p.Arg74Ter)
|
rs1554897861
|
|
NM_000314.8(PTEN):c.226del (p.Tyr76fs)
|
rs1564828960
|
|
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
|
|
|
NM_000314.8(PTEN):c.247del (p.Cys83fs)
|
|
|
NM_000314.8(PTEN):c.253+1G>A
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1G>C
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1G>T
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1dup
|
rs876660082
|
|
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)
|
rs1554898053
|
|
NM_000314.8(PTEN):c.261del (p.Gln87fs)
|
rs1114167637
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.270dup (p.Glu91Ter)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.271del (p.Glu91fs)
|
rs1114167668
|
|
NM_000314.8(PTEN):c.277del (p.His93fs)
|
|
|
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu)
|
rs786204856
|
|
NM_000314.8(PTEN):c.285_286insAA (p.Pro96fs)
|
rs1554898073
|
|
NM_000314.8(PTEN):c.296_297del (p.Glu99fs)
|
|
|
NM_000314.8(PTEN):c.301_311del (p.Ile101fs)
|
rs1589646106
|
|
NM_000314.8(PTEN):c.301dup (p.Ile101fs)
|
rs1554898084
|
|
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)
|
rs1339631701
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.315del (p.Cys105fs)
|
rs1114167626
|
|
NM_000314.8(PTEN):c.31del (p.Arg11fs)
|
|
|
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)
|
rs1114167629
|
|
NM_000314.8(PTEN):c.330_331insG (p.Trp111fs)
|
|
|
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)
|
rs398123321
|
|
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
|
|
|
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter)
|
rs1554898097
|
|
NM_000314.8(PTEN):c.364dup (p.Ile122fs)
|
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370del (p.Cys124fs)
|
rs1554898123
|
|
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
|
|
|
NM_000314.8(PTEN):c.376_377del (p.Ala126fs)
|
rs1114167659
|
|
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)
|
rs121909218
|
|
NM_000314.8(PTEN):c.386G>T (p.Gly129Val)
|
rs121909218
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)
|
rs1085308046
|
|
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)
|
rs587782360
|
|
NM_000314.8(PTEN):c.405dup (p.Cys136fs)
|
rs398123323
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr)
|
rs786204859
|
|
NM_000314.8(PTEN):c.407G>T (p.Cys136Phe)
|
|
|
NM_000314.8(PTEN):c.40del (p.Arg14fs)
|
|
|
NM_000314.8(PTEN):c.415_416del (p.Leu139fs)
|
|
|
NM_000314.8(PTEN):c.416del (p.Leu139fs)
|
rs1554898163
|
|
NM_000314.8(PTEN):c.420dup (p.His141fs)
|
rs1085308050
|
|
NM_000314.8(PTEN):c.424del (p.Arg142fs)
|
rs869312779
|
|
NM_000314.8(PTEN):c.42del (p.Arg15fs)
|
rs786202786
|
|
NM_000314.8(PTEN):c.432del (p.Lys144fs)
|
rs1114167657
|
|
NM_000314.8(PTEN):c.437T>A (p.Leu146Ter)
|
rs786204933
|
|
NM_000314.8(PTEN):c.437del (p.Phe145_Leu146insTer)
|
rs1114167627
|
|
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs)
|
rs1114167641
|
|
NM_000314.8(PTEN):c.442dup (p.Ala148fs)
|
|
|
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter)
|
rs1060500122
|
|
NM_000314.8(PTEN):c.447dup (p.Glu150fs)
|
|
|
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)
|
rs786204934
|
|
NM_000314.8(PTEN):c.44_45del (p.Arg15fs)
|
rs1057524874
|
|
NM_000314.8(PTEN):c.44_56del (p.Arg15fs)
|
|
|
NM_000314.8(PTEN):c.451del (p.Ala151fs)
|
|
|
NM_000314.8(PTEN):c.458_461del (p.Asp153fs)
|
rs876658304
|
|
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)
|
rs1064794096
|
|
NM_000314.8(PTEN):c.461del (p.Phe154fs)
|
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter)
|
rs1554898206
|
|
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)
|
rs121909220
|
|
NM_000314.8(PTEN):c.469del (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.46dup (p.Tyr16fs)
|
rs786204883
|
|
NM_000314.8(PTEN):c.486del (p.Asp162fs)
|
|
|
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)
|
rs587782187
|
|
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)
|
rs587782187
|
|
NM_000314.8(PTEN):c.48_49delinsAT (p.Tyr16_Gln17delinsTer)
|
|
|
NM_000314.8(PTEN):c.491del (p.Lys164fs)
|
rs786204900
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
NM_000314.8(PTEN):c.493-1G>A
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-1G>C
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-1G>T
|
rs786204862
|
|
NM_000314.8(PTEN):c.493-20_497del
|
|
|
NM_000314.8(PTEN):c.493-2A>G
|
rs587781784
|
|
NM_000314.8(PTEN):c.493-6_511del
|
|
|
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)
|
rs587782603
|
|
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)
|
rs786204910
|
|
NM_000314.8(PTEN):c.502_503del (p.Ile168fs)
|
rs2132268956
|
|
NM_000314.8(PTEN):c.502del (p.Ile168fs)
|
rs1114167631
|
|
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg)
|
rs1554900534
|
|
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile)
|
rs876660507
|
|
NM_000314.8(PTEN):c.50_51del (p.Gln17fs)
|
rs587781912
|
|
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg)
|
rs121909221
|
|
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)
|
rs786204864
|
|
NM_000314.8(PTEN):c.512_515del (p.Gln171fs)
|
rs1114167635
|
|
NM_000314.8(PTEN):c.512dup (p.Arg172fs)
|
rs1114167632
|
|
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn)
|
rs587782316
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.522T>A (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter)
|
rs878853012
|
|
NM_000314.8(PTEN):c.53del (p.Glu18fs)
|
rs878853940
|
|
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)
|
rs786202733
|
|
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)
|
rs1589659492
|
|
NM_000314.8(PTEN):c.545T>A (p.Leu182Ter)
|
rs794729664
|
|
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter)
|
rs794729664
|
|
NM_000314.8(PTEN):c.548del (p.Lys183fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.548dup (p.Asn184fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.549_550dup (p.Asn184fs)
|
rs1554900599
|
|
NM_000314.8(PTEN):c.553dup (p.His185fs)
|
|
|
NM_000314.8(PTEN):c.556_557del (p.Leu186fs)
|
rs1114167652
|
|
NM_000314.8(PTEN):c.564T>G (p.Tyr188Ter)
|
rs606231170
|
|
NM_000314.8(PTEN):c.569_572dup (p.Ala192fs)
|
|
|
NM_000314.8(PTEN):c.569del (p.Pro190fs)
|
|
|
NM_000314.8(PTEN):c.585dup (p.His196fs)
|
rs786204901
|
|
NM_000314.8(PTEN):c.586dup (p.His196fs)
|
|
|
NM_000314.8(PTEN):c.591_614delinsTA (p.Lys197fs)
|
|
|
NM_000314.8(PTEN):c.617del (p.Phe206fs)
|
|
|
NM_000314.8(PTEN):c.632dup (p.Cys211fs)
|
rs1114167663
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000314.8(PTEN):c.634+1G>A
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+1G>C
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+1G>T
|
rs1114167622
|
|
NM_000314.8(PTEN):c.634+2T>C
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+2T>G
|
rs727504114
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000314.8(PTEN):c.634_634+1del
|
|
|
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)
|
rs121909227
|
|
NM_000314.8(PTEN):c.641dup (p.Phe215fs)
|
rs2132276426
|
|
NM_000314.8(PTEN):c.646del (p.Val216fs)
|
rs1554825160
|
|
NM_000314.8(PTEN):c.651del (p.Cys218fs)
|
|
|
NM_000314.8(PTEN):c.672_675del (p.Tyr225fs)
|
|
|
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)
|
|
|
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter)
|
rs1214965807
|
|
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)
|
rs1589596407
|
|
NM_000314.8(PTEN):c.693del (p.Thr232fs)
|
rs1554825189
|
|
NM_000314.8(PTEN):c.696dup (p.Arg233fs)
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.706dup (p.Asp236fs)
|
rs786202529
|
|
NM_000314.8(PTEN):c.70G>C (p.Asp24His)
|
rs786201995
|
|
NM_000314.8(PTEN):c.710dup (p.Phe238fs)
|
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.720del (p.Phe241fs)
|
rs1589663374
|
|
NM_000314.8(PTEN):c.723dup (p.Glu242Ter)
|
rs1060500115
|
|
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)
|
rs786202918
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.738_739dup (p.Leu247fs)
|
rs1589663442
|
|
NM_000314.8(PTEN):c.740T>A (p.Leu247Ter)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)
|
rs1057519368
|
|
NM_000314.8(PTEN):c.740del (p.Leu247fs)
|
rs1114167662
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.74dup (p.Leu25fs)
|
rs1114167653
|
|
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter)
|
rs767623493
|
|
NM_000314.8(PTEN):c.750_751del (p.Cys250fs)
|
rs780264945
|
|
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)
|
rs121909239
|
|
NM_000314.8(PTEN):c.757dup (p.Ile253fs)
|
rs1114167661
|
|
NM_000314.8(PTEN):c.758_765del (p.Ile253fs)
|
|
|
NM_000314.8(PTEN):c.760A>T (p.Lys254Ter)
|
|
|
NM_000314.8(PTEN):c.772_773del (p.Phe258fs)
|
rs587781354
|
|
NM_000314.8(PTEN):c.780del (p.Lys260fs)
|
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
NM_000314.8(PTEN):c.783_784del (p.Asn262fs)
|
rs1554825249
|
|
NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)
|
|
|
NM_000314.8(PTEN):c.790dup (p.Met264fs)
|
|
|
NM_000314.8(PTEN):c.791_792dup (p.Leu265fs)
|
rs1114167646
|
|
NM_000314.8(PTEN):c.795_801+1del
|
rs1589663644
|
|
NM_000314.8(PTEN):c.796A>T (p.Lys266Ter)
|
rs1554825260
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.800del (p.Lys267fs)
|
rs121913289
|
|
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
|
|
|
NM_000314.8(PTEN):c.801+1G>T
|
rs786204873
|
|
NM_000314.8(PTEN):c.801+2T>A
|
rs1114167665
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.802-1G>T
|
rs1257124719
|
|
NM_000314.8(PTEN):c.802-2A>G
|
rs587782455
|
|
NM_000314.8(PTEN):c.813del (p.His272fs)
|
rs1114167634
|
|
NM_000314.8(PTEN):c.81_82insCT (p.Ile28fs)
|
rs786203477
|
|
NM_000314.8(PTEN):c.821G>A (p.Trp274Ter)
|
rs786204875
|
|
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)
|
rs587782607
|
|
NM_000314.8(PTEN):c.827del (p.Asn276fs)
|
rs886044679
|
|
NM_000314.8(PTEN):c.829dup (p.Thr277fs)
|
rs1589665640
|
|
NM_000314.8(PTEN):c.837dup (p.Ile280fs)
|
|
|
NM_000314.8(PTEN):c.839del (p.Ile280fs)
|
rs1589665663
|
|
NM_000314.8(PTEN):c.849del (p.Glu284fs)
|
rs1114167655
|
|
NM_000314.8(PTEN):c.850G>T (p.Glu284Ter)
|
rs786202840
|
|
NM_000314.8(PTEN):c.860C>A (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter)
|
rs562015640
|
|
NM_000314.8(PTEN):c.870del (p.Glu291fs)
|
rs886041332
|
|
NM_000314.8(PTEN):c.875dup (p.Asn292fs)
|
rs786204905
|
|
NM_000314.8(PTEN):c.878del (p.Gly293fs)
|
|
|
NM_000314.8(PTEN):c.883_886dup (p.Cys296fs)
|
|
|
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs)
|
rs1114167680
|
|
NM_000314.8(PTEN):c.884dup (p.Cys296fs)
|
rs587780006
|
|
NM_000314.8(PTEN):c.885_888del (p.Cys296fs)
|
rs1114167675
|
|
NM_000314.8(PTEN):c.886del (p.Cys296fs)
|
rs1114167643
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter)
|
rs371387815
|
|
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)
|
rs1114167674
|
|
NM_000314.8(PTEN):c.899_903del (p.Ile300fs)
|
rs1064796067
|
|
NM_000314.8(PTEN):c.900del (p.Ile300fs)
|
rs797045904
|
|
NM_000314.8(PTEN):c.914del (p.Ser305fs)
|
rs1114167644
|
|
NM_000314.8(PTEN):c.917dup (p.Glu307fs)
|
rs1554825560
|
|
NM_000314.8(PTEN):c.920_921insTA (p.Glu307fs)
|
|
|
NM_000314.8(PTEN):c.925dup (p.Ala309fs)
|
|
|
NM_000314.8(PTEN):c.92del (p.Asn31fs)
|
rs1564814427
|
|
NM_000314.8(PTEN):c.930del (p.Asp310fs)
|
rs1589665993
|
|
NM_000314.8(PTEN):c.938_939del (p.Lys313fs)
|
|
|
NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer)
|
rs1114167628
|
|
NM_000314.8(PTEN):c.949del (p.Val317fs)
|
rs876658837
|
|
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)
|
rs146650273
|
|
NM_000314.8(PTEN):c.956_959del (p.Thr319fs)
|
rs398123330
|
|
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer)
|
rs1114167682
|
|
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)
|
rs786202004
|
|
NM_000314.8(PTEN):c.968del (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.973del (p.Asp326fs)
|
rs1554825602
|
|
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer)
|
rs1114167640
|
|
NM_000314.8(PTEN):c.975dup (p.Asp326Ter)
|
rs1589666183
|
|
NM_000314.8(PTEN):c.97_98del (p.Ile33fs)
|
rs876658171
|
|
NM_000314.8(PTEN):c.987_990del (p.Asn329fs)
|
rs587782304
|
|
NM_000314.8(PTEN):c.993_994dup (p.Lys332fs)
|
rs1114167638
|
|
NM_000314.8(PTEN):c.994A>T (p.Lys332Ter)
|
|
|
NM_000321.2(RB1):c.-198G>A
|
rs387906521
|
|
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs)
|
rs1131690845
|
|
NM_000321.2(RB1):c.382_383dupGT
|
|
|
NM_000321.3(RB1):c.1024del (p.Thr342fs)
|
rs587778844
|
|
NM_000321.3(RB1):c.1027del (p.Leu343fs)
|
rs1131690873
|
|
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
|
|
|
NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA
|
|
|
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)
|
rs587778829
|
|
NM_000321.3(RB1):c.1064_1065del (p.Arg355fs)
|
rs1131690861
|
|
NM_000321.3(RB1):c.106del (p.Asp36fs)
|
rs1131690913
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs)
|
rs1131690872
|
|
NM_000321.3(RB1):c.1105del (p.Ile369fs)
|
|
|
NM_000321.3(RB1):c.1128-2A>G
|
rs1131690892
|
|
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter)
|
rs1131690846
|
|
NM_000321.3(RB1):c.1158del (p.Met386fs)
|
|
|
NM_000321.3(RB1):c.118del (p.Glu40fs)
|
rs1593412261
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1215+1G>C
|
|
|
NM_000321.3(RB1):c.1215+2T>G
|
rs1060503074
|
|
NM_000321.3(RB1):c.1229del (p.Asn410fs)
|
rs1131690897
|
|
NM_000321.3(RB1):c.1251_1252del (p.Arg418fs)
|
rs1131690889
|
|
NM_000321.3(RB1):c.128dup (p.Leu44fs)
|
|
|
NM_000321.3(RB1):c.1321dup (p.Ile441fs)
|
rs1131690875
|
|
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)
|
rs1060503079
|
|
NM_000321.3(RB1):c.1333-1G>A
|
rs2138140730
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)
|
rs1593455621
|
|
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)
|
rs1131690851
|
|
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
|
|
|
NM_000321.3(RB1):c.137+1G>T
|
rs1131690855
|
|
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)
|
rs1131690884
|
|
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
|
|
|
NM_000321.3(RB1):c.1389+1G>A
|
|
|
NM_000321.3(RB1):c.1389+5G>A
|
rs1131690859
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
|
|
|
NM_000321.3(RB1):c.1421+1del
|
rs1555286576
|
|
NM_000321.3(RB1):c.1422-1G>T
|
|
|
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)
|
rs587776788
|
|
NM_000321.3(RB1):c.1447del (p.His483fs)
|
rs1131690910
|
|
NM_000321.3(RB1):c.1450_1451del (p.Met484fs)
|
rs1948522792
|
|
NM_000321.3(RB1):c.1450_1459del (p.Met484fs)
|
|
|
NM_000321.3(RB1):c.1498+2T>C
|
|
|
NM_000321.3(RB1):c.1502_1514del (p.Ser501fs)
|
rs1131690856
|
|
NM_000321.3(RB1):c.1531del (p.Asp511fs)
|
|
|
NM_000321.3(RB1):c.1575del (p.Phe526fs)
|
rs1131690876
|
|
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
|
|
|
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)
|
rs1593457065
|
|
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)
|
rs1948534542
|
|
NM_000321.3(RB1):c.164del (p.Pro55fs)
|
|
|
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)
|
rs121913303
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1695+3A>C
|
rs1131690870
|
|
NM_000321.3(RB1):c.1706del (p.Leu569fs)
|
rs1131690842
|
|
NM_000321.3(RB1):c.1726_1729del (p.Ser576fs)
|
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1811del (p.Asp604fs)
|
rs1131690893
|
|
NM_000321.3(RB1):c.1814+1G>A
|
|
|
NM_000321.3(RB1):c.1814+2T>G
|
rs1131690899
|
|
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)
|
rs137853297
|
|
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
|
|
|
NM_000321.3(RB1):c.1822del (p.Ser608fs)
|
|
|
NM_000321.3(RB1):c.1853C>G (p.Ser618Ter)
|
|
|
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
|
|
|
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
|
|
|
NM_000321.3(RB1):c.1946del (p.Leu649fs)
|
|
|
NM_000321.3(RB1):c.1960+5G>C
|
rs587778871
|
|
NM_000321.3(RB1):c.1960G>C (p.Val654Leu)
|
rs483352690
|
|
NM_000321.3(RB1):c.1993del (p.Leu665fs)
|
|
|
NM_000321.3(RB1):c.19dup (p.Arg7fs)
|
rs1131690852
|
|
NM_000321.3(RB1):c.2011_2014del (p.Glu672fs)
|
rs1131690885
|
|
NM_000321.3(RB1):c.2014G>T (p.Glu672Ter)
|
rs1131690903
|
|
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
|
|
|
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter)
|
rs878853949
|
|
NM_000321.3(RB1):c.2055del (p.Gln685fs)
|
rs1131690844
|
|
NM_000321.3(RB1):c.2074_2087del (p.Tyr692fs)
|
|
|
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
|
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
NM_000321.3(RB1):c.2104C>T (p.Gln702Ter)
|
rs1131690865
|
|
NM_000321.3(RB1):c.2105A>G (p.Gln702Arg)
|
rs1131690857
|
|
NM_000321.3(RB1):c.2124del (p.Met708fs)
|
|
|
NM_000321.3(RB1):c.2128_2132del (p.Gly710fs)
|
rs1131690896
|
|
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)
|
rs587778849
|
|
NM_000321.3(RB1):c.219_220del (p.Arg73fs)
|
rs587778862
|
|
NM_000321.3(RB1):c.2210dup (p.Thr738fs)
|
|
|
NM_000321.3(RB1):c.2211G>A (p.Glu737=)
|
rs587776787
|
|
NM_000321.3(RB1):c.2266del (p.Tyr756fs)
|
|
|
NM_000321.3(RB1):c.2287A>T (p.Arg763Ter)
|
|
|
NM_000321.3(RB1):c.2299_2302del (p.Asn767fs)
|
rs1131690894
|
|
NM_000321.3(RB1):c.2325+1G>A
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+5G>A
|
rs886042249
|
|
NM_000321.3(RB1):c.2346dup (p.Pro783fs)
|
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)
|
rs1593539386
|
|
NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs)
|
rs1131690868
|
|
NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter)
|
rs774744607
|
|
NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter)
|
rs774744607
|
|
NM_000321.3(RB1):c.2465del (p.Pro822fs)
|
rs1131690866
|
|
NM_000321.3(RB1):c.2480dup (p.Arg828fs)
|
|
|
NM_000321.3(RB1):c.2489+1G>A
|
rs764754259
|
|
NM_000321.3(RB1):c.2489+1G>C
|
rs764754259
|
|
NM_000321.3(RB1):c.2496_2505del (p.Ser834fs)
|
|
|
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)
|
rs1131690906
|
|
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter)
|
rs1131690908
|
|
NM_000321.3(RB1):c.2520+1G>T
|
rs587778850
|
|
NM_000321.3(RB1):c.2520+1del
|
rs587776779
|
|
NM_000321.3(RB1):c.2520+3_2520+6del
|
rs1131690858
|
|
NM_000321.3(RB1):c.2520+5G>C
|
rs1131690881
|
|
NM_000321.3(RB1):c.25del (p.Thr9fs)
|
|
|
NM_000321.3(RB1):c.264+1G>A
|
rs1131690907
|
|
NM_000321.3(RB1):c.277C>T (p.Gln93Ter)
|
rs1131690915
|
|
NM_000321.3(RB1):c.281dup (p.Lys95fs)
|
rs1131690862
|
|
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)
|
rs794727481
|
|
NM_000321.3(RB1):c.334G>T (p.Glu112Ter)
|
|
|
NM_000321.3(RB1):c.371_372del (p.Ile124fs)
|
rs1566186125
|
|
NM_000321.3(RB1):c.373G>T (p.Glu125Ter)
|
rs1952457111
|
|
NM_000321.3(RB1):c.377del (p.Ile126fs)
|
rs2138084130
|
|
NM_000321.3(RB1):c.380+1G>A
|
rs1131690902
|
|
NM_000321.3(RB1):c.434del (p.Asp145fs)
|
rs1131690912
|
|
NM_000321.3(RB1):c.443del (p.Met148fs)
|
rs1131690867
|
|
NM_000321.3(RB1):c.446C>G (p.Ser149Ter)
|
rs587778870
|
|
NM_000321.3(RB1):c.453_454del (p.Leu152fs)
|
|
|
NM_000321.3(RB1):c.496G>T (p.Glu166Ter)
|
rs1131690874
|
|
NM_000321.3(RB1):c.500+1G>T
|
rs1131690880
|
|
NM_000321.3(RB1):c.506del (p.Cys169fs)
|
|
|
NM_000321.3(RB1):c.524del (p.Thr175fs)
|
|
|
NM_000321.3(RB1):c.526_527del (p.Gln176fs)
|
|
|
NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer)
|
rs1131690871
|
|
NM_000321.3(RB1):c.549del (p.Glu184fs)
|
rs1131690887
|
|
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)
|
rs1555279210
|
|
NM_000321.3(RB1):c.54_79del (p.Glu19fs)
|
rs727504120
|
|
NM_000321.3(RB1):c.54_79dup (p.Pro27fs)
|
|
|
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
|
|
|
NM_000321.3(RB1):c.56_75dup (p.Pro26fs)
|
|
|
NM_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>C
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.62del (p.Pro21fs)
|
|
|
NM_000321.3(RB1):c.635del (p.Leu212fs)
|
|
|
NM_000321.3(RB1):c.644C>A (p.Ser215Ter)
|
rs768305224
|
|
NM_000321.3(RB1):c.667del (p.Asp224fs)
|
|
|
NM_000321.3(RB1):c.681del (p.Lys228fs)
|
rs1131690905
|
|
NM_000321.3(RB1):c.702del (p.Leu234fs)
|
rs1131690878
|
|
NM_000321.3(RB1):c.709G>T (p.Glu237Ter)
|
rs1131690904
|
|
NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs)
|
rs1131690890
|
|
NM_000321.3(RB1):c.735del (p.Ile246fs)
|
rs1131690847
|
|
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)
|
rs1131690863
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.772_776del (p.Asn258fs)
|
rs1566192530
|
|
NM_000321.3(RB1):c.814del (p.Arg272fs)
|
|
|
NM_000321.3(RB1):c.846del (p.Glu282fs)
|
rs1131690849
|
|
NM_000321.3(RB1):c.862-2A>C
|
rs1131690914
|
|
NM_000321.3(RB1):c.863_864del (p.Val288fs)
|
|
|
NM_000321.3(RB1):c.869del (p.Asn290fs)
|
rs1131690901
|
|
NM_000321.3(RB1):c.940-1G>A
|
rs1131690860
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)
|
rs1952715820
|
|
NM_000321.3(RB1):c.964G>T (p.Glu322Ter)
|
rs776534331
|
|
NM_000321.3(RB1):c.987del (p.Asp330fs)
|
|
|
NM_000321.3(RB1):c.995del (p.Asp332fs)
|
|
|
NM_000321.3(RB1):c.9_42dup (p.Ala15fs)
|
rs1555279195
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.1195_1196delinsTG (p.Pro399Ter)
|
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1467del (p.Thr490fs)
|
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.1724del (p.Ser575fs)
|
rs1554815889
|
|
NM_000368.5(TSC1):c.1816del (p.His606fs)
|
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.2041+2T>C
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)
|
rs118203624
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2080_2095del (p.Gln694fs)
|
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2276_2303del (p.Ala759fs)
|
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2374C>T (p.Gln792Ter)
|
|
|
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)
|
rs118203706
|
|
NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter)
|
rs1114167619
|
|
NM_000368.5(TSC1):c.2546_2552del (p.Asn849fs)
|
|
|
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter)
|
rs1588297391
|
|
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)
|
rs886039662
|
|
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter)
|
rs2131685383
|
|
NM_000368.5(TSC1):c.263_277delinsTA (p.Ser88fs)
|
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
|
rs118203727
|
|
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
|
|
|
NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs)
|
rs1554819932
|
|
NM_000368.5(TSC1):c.401del (p.Leu134fs)
|
|
|
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter)
|
rs1846671628
|
|
NM_000368.5(TSC1):c.526dup (p.Tyr176fs)
|
rs2132161155
|
|
NM_000368.5(TSC1):c.637dup (p.Leu213fs)
|
rs1114167620
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.749_751delinsAA (p.Leu250_Glu251delinsTer)
|
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.988_989del (p.Leu330fs)
|
rs118203477
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000455.5(STK11):c.1004_1019dup (p.Leu341fs)
|
|
|
NM_000455.5(STK11):c.106del (p.Tyr36fs)
|
rs1131690924
|
|
NM_000455.5(STK11):c.107dup (p.Tyr36Ter)
|
|
|
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter)
|
rs137853079
|
|
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
|
|
|
NM_000455.5(STK11):c.109C>T (p.Gln37Ter)
|
rs121913324
|
|
NM_000455.5(STK11):c.156_157del (p.Asp53fs)
|
rs1131690917
|
|
NM_000455.5(STK11):c.156_157dup (p.Asp53fs)
|
|
|
NM_000455.5(STK11):c.157del (p.Asp53fs)
|
|
|
NM_000455.5(STK11):c.157dup (p.Asp53fs)
|
rs1131690917
|
|
NM_000455.5(STK11):c.169dup (p.Glu57fs)
|
rs121913319
|
|
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter)
|
rs778376925
|
|
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter)
|
rs778376925
|
|
NM_000455.5(STK11):c.195_198del (p.Glu65fs)
|
rs1131690936
|
|
NM_000455.5(STK11):c.209dup (p.Thr71fs)
|
rs1131690929
|
|
NM_000455.5(STK11):c.242del (p.Lys81fs)
|
rs1599915235
|
|
NM_000455.5(STK11):c.246del (p.Lys83fs)
|
|
|
NM_000455.5(STK11):c.250A>T (p.Lys84Ter)
|
rs137853076
|
|
NM_000455.5(STK11):c.256del (p.Arg86fs)
|
|
|
NM_000455.5(STK11):c.267del (p.Asn90fs)
|
|
|
NM_000455.5(STK11):c.288_289dup (p.Lys97fs)
|
rs2080673579
|
|
NM_000455.5(STK11):c.290+1G>T
|
rs1131690950
|
|
NM_000455.5(STK11):c.291-1G>A
|
rs112675807
|
|
NM_000455.5(STK11):c.291-2A>G
|
rs876658584
|
|
NM_000455.5(STK11):c.357del (p.Asn119fs)
|
rs1555737444
|
|
NM_000455.5(STK11):c.358G>T (p.Glu120Ter)
|
rs775595174
|
|
NM_000455.5(STK11):c.363_367dup (p.Gln123fs)
|
rs1131690933
|
|
NM_000455.5(STK11):c.367C>T (p.Gln123Ter)
|
rs1131690925
|
|
NM_000455.5(STK11):c.373dup (p.Met125fs)
|
rs1131690952
|
|
NM_000455.5(STK11):c.374+1A>G
|
rs1131690951
|
|
NM_000455.5(STK11):c.388G>T (p.Glu130Ter)
|
rs1599925303
|
|
NM_000455.5(STK11):c.396C>A (p.Cys132Ter)
|
rs730881969
|
|
NM_000455.5(STK11):c.409C>T (p.Gln137Ter)
|
rs730881970
|
|
NM_000455.5(STK11):c.418del (p.Leu140fs)
|
rs397518440
|
|
NM_000455.5(STK11):c.446del (p.Pro149fs)
|
rs1131690926
|
|
NM_000455.5(STK11):c.462dup (p.Gly155fs)
|
|
|
NM_000455.5(STK11):c.464+1G>T
|
rs730881971
|
|
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)
|
|
|
NM_000455.5(STK11):c.479_489del (p.Leu160fs)
|
|
|
NM_000455.5(STK11):c.487_490del (p.Gly163fs)
|
|
|
NM_000455.5(STK11):c.488G>A (p.Gly163Asp)
|
rs137853078
|
|
NM_000455.5(STK11):c.497_500dup (p.His168fs)
|
rs1131690922
|
|
NM_000455.5(STK11):c.526G>A (p.Asp176Asn)
|
rs730881979
|
|
NM_000455.5(STK11):c.526del (p.Asp176fs)
|
rs1599926521
|
|
NM_000455.5(STK11):c.540del (p.Asn181fs)
|
rs1131690939
|
|
NM_000455.5(STK11):c.540dup (p.Asn181fs)
|
rs1131690939
|
|
NM_000455.5(STK11):c.541_542dup (p.Asn181fs)
|
|
|
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
|
NM_000455.5(STK11):c.543C>G (p.Asn181Lys)
|
rs730881973
|
|
NM_000455.5(STK11):c.574del (p.Ile192fs)
|
rs587781856
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)
|
rs121913315
|
|
NM_000455.5(STK11):c.597+1G>A
|
|
|
NM_000455.5(STK11):c.598-1G>A
|
rs1555738319
|
|
NM_000455.5(STK11):c.598-2A>G
|
rs1131690934
|
|
NM_000455.5(STK11):c.608dup (p.Phe204fs)
|
rs1131690946
|
|
NM_000455.5(STK11):c.630C>A (p.Cys210Ter)
|
rs786201213
|
|
NM_000455.5(STK11):c.640C>T (p.Gln214Ter)
|
rs1131690923
|
|
NM_000455.5(STK11):c.645del (p.Ser216fs)
|
|
|
NM_000455.5(STK11):c.658C>T (p.Gln220Ter)
|
rs1131690940
|
|
NM_000455.5(STK11):c.663_675del (p.Pro222fs)
|
|
|
NM_000455.5(STK11):c.677del (p.Asn226fs)
|
|
|
NM_000455.5(STK11):c.67del (p.Asp23fs)
|
rs1555734904
|
|
NM_000455.5(STK11):c.719C>A (p.Ser240Ter)
|
rs730881976
|
|
NM_000455.5(STK11):c.734+1G>A
|
rs587782018
|
|
NM_000455.5(STK11):c.734+1G>C
|
rs587782018
|
|
NM_000455.5(STK11):c.734+1G>T
|
rs587782018
|
|
NM_000455.5(STK11):c.735-1G>A
|
rs1057517830
|
|
NM_000455.5(STK11):c.752del (p.Gly251fs)
|
rs1131690948
|
|
NM_000455.5(STK11):c.790_793del (p.Phe264fs)
|
rs121913320
|
|
NM_000455.5(STK11):c.792del (p.Phe264fs)
|
rs1599927622
|
|
NM_000455.5(STK11):c.806del (p.Lys269fs)
|
rs1599927645
|
|
NM_000455.5(STK11):c.816C>A (p.Tyr272Ter)
|
|
|
NM_000455.5(STK11):c.816C>G (p.Tyr272Ter)
|
rs9282859
|
|
NM_000455.5(STK11):c.824del (p.Pro275fs)
|
|
|
NM_000455.5(STK11):c.827del (p.Gly276fs)
|
|
|
NM_000455.5(STK11):c.830_836dup (p.Pro280fs)
|
rs1599927689
|
|
NM_000455.5(STK11):c.842del (p.Pro281fs)
|
rs121913321
|
|
NM_000455.5(STK11):c.842dup (p.Leu282fs)
|
rs121913321
|
|
NM_000455.5(STK11):c.843dup (p.Leu282fs)
|
rs1131690949
|
|
NM_000455.5(STK11):c.862+1G>T
|
rs1131690921
|
|
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
|
rs1057524439
|
|
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter)
|
rs148928808
|
|
NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer)
|
rs1131690947
|
|
NM_000455.5(STK11):c.885del (p.Lys296fs)
|
|
|
NM_000455.5(STK11):c.899del (p.Ile300fs)
|
rs786203624
|
|
NM_000455.5(STK11):c.901del (p.Arg301fs)
|
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000455.5(STK11):c.910del (p.Arg304fs)
|
rs1064793427
|
|
NM_000455.5(STK11):c.911G>C (p.Arg304Pro)
|
rs376280361
|
|
NM_000455.5(STK11):c.913C>T (p.Gln305Ter)
|
rs1131690945
|
|
NM_000455.5(STK11):c.920+1G>A
|
rs1131690920
|
|
NM_000455.5(STK11):c.921-1G>C
|
rs398123406
|
|
NM_000455.5(STK11):c.922_931delinsCC (p.Trp308fs)
|
rs1599929258
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
NM_000455.5(STK11):c.93dup (p.Thr32fs)
|
rs1131690930
|
|
NM_000455.5(STK11):c.965del (p.Ile322fs)
|
|
|
NM_000465.2:c.(1903+1_1904-1)_(2001+1_2002-1)dup
|
|
|
NM_000465.4(BARD1):c.1004_1005del (p.Arg335fs)
|
|
|
NM_000465.4(BARD1):c.100dup (p.Trp34fs)
|
rs1553628410
|
|
NM_000465.4(BARD1):c.1014del (p.Ser339fs)
|
rs1064793682
|
|
NM_000465.4(BARD1):c.1023del (p.Ser342fs)
|
rs876660061
|
|
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter)
|
rs879254280
|
|
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)
|
rs2106109048
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.107del (p.His36fs)
|
|
|
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
|
|
|
NM_000465.4(BARD1):c.1133_1135delinsCC (p.Arg378fs)
|
|
|
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs)
|
rs1694949382
|
|
NM_000465.4(BARD1):c.1187_1197delinsTTG (p.Pro396fs)
|
rs1574816645
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
NM_000465.4(BARD1):c.1198del (p.Ser400fs)
|
rs786203891
|
|
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)
|
rs1553622178
|
|
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs)
|
rs1553622164
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs)
|
rs786203533
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
NM_000465.4(BARD1):c.1282G>T (p.Gly428Ter)
|
rs1553622106
|
|
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
|
|
|
NM_000465.4(BARD1):c.1325del (p.Pro442fs)
|
rs1060501287
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
NM_000465.4(BARD1):c.1335del (p.Glu445fs)
|
|
|
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)
|
rs761702998
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)
|
rs1553619713
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
NM_000465.4(BARD1):c.1371del (p.Asp458fs)
|
rs1553619704
|
|
NM_000465.4(BARD1):c.1375del (p.His459fs)
|
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
|
|
|
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
|
|
|
NM_000465.4(BARD1):c.1482_1485delinsGGGTA (p.Asn494fs)
|
|
|
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter)
|
rs1405646805
|
|
NM_000465.4(BARD1):c.1539_1542del (p.Leu513fs)
|
|
|
NM_000465.4(BARD1):c.1539dup (p.Leu514fs)
|
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
|
|
|
NM_000465.4(BARD1):c.1620del (p.Lys540fs)
|
rs1693504040
|
|
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.1656del (p.Ser553fs)
|
rs1574756047
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
|
|
NM_000465.4(BARD1):c.1659del (p.Ala554fs)
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
NM_000465.4(BARD1):c.1716dup (p.Ile573fs)
|
rs1574739562
|
|
NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs)
|
rs2106021114
|
|
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)
|
rs1553615135
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1771del (p.Ile591fs)
|
rs1574739114
|
|
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer)
|
rs1553615092
|
|
NM_000465.4(BARD1):c.1818del (p.His606fs)
|
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
NM_000465.4(BARD1):c.184del (p.Cys62fs)
|
rs1559441846
|
|
NM_000465.4(BARD1):c.1853T>A (p.Leu618Ter)
|
|
|
NM_000465.4(BARD1):c.1857_1860dup (p.Met621fs)
|
|
|
NM_000465.4(BARD1):c.1865_1903+274del
|
rs1693019491
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1875_1876del (p.Asn626fs)
|
|
|
NM_000465.4(BARD1):c.1886G>A (p.Trp629Ter)
|
rs747446711
|
|
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)
|
rs878854003
|
|
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
|
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
NM_000465.4(BARD1):c.2015_2016dup (p.Asp673fs)
|
rs1559372682
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.225_228del (p.Ser76fs)
|
rs1553624830
|
|
NM_000465.4(BARD1):c.226del (p.Ser76fs)
|
rs1559437264
|
|
NM_000465.4(BARD1):c.252_264del (p.Val85fs)
|
|
|
NM_000465.4(BARD1):c.257_258del (p.Cys86fs)
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer)
|
rs1553624801
|
|
NM_000465.4(BARD1):c.277C>T (p.Gln93Ter)
|
rs876658571
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
NM_000465.4(BARD1):c.328A>T (p.Lys110Ter)
|
rs1574839460
|
|
NM_000465.4(BARD1):c.395del (p.Leu132fs)
|
|
|
NM_000465.4(BARD1):c.395dup (p.Leu132fs)
|
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
NM_000465.4(BARD1):c.432_438del (p.Lys144fs)
|
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)
|
rs1553622669
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
NM_000465.4(BARD1):c.485C>A (p.Ser162Ter)
|
|
|
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
|
rs786202500
|
|
NM_000465.4(BARD1):c.4_23del (p.Pro2fs)
|
rs876660077
|
|
NM_000465.4(BARD1):c.513del (p.Asp172fs)
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
NM_000465.4(BARD1):c.517dup (p.Ala173fs)
|
rs1574821129
|
|
NM_000465.4(BARD1):c.518dup (p.Ser174fs)
|
rs1574821103
|
|
NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)
|
rs776851287
|
|
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.580_581del (p.Arg194fs)
|
|
|
NM_000465.4(BARD1):c.592del (p.Ala198fs)
|
rs876660761
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
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.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632del (p.Thr210_Leu211insTer)
|
|
|
NM_000465.4(BARD1):c.632dup (p.Leu211fs)
|
rs999444545
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.657_660del (p.Asn219fs)
|
rs587781671
|
|
NM_000465.4(BARD1):c.65_101del (p.Ser22fs)
|
rs1574869326
|
|
NM_000465.4(BARD1):c.66del (p.Ala23fs)
|
|
|
NM_000465.4(BARD1):c.695_696delinsT (p.Lys232fs)
|
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)
|
rs905491643
|
|
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)
|
rs587780035
|
|
NM_000465.4(BARD1):c.713del (p.Lys238fs)
|
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
NM_000465.4(BARD1):c.740del (p.Ser247fs)
|
rs2106110712
|
|
NM_000465.4(BARD1):c.746del (p.Ile249fs)
|
rs1574819607
|
|
NM_000465.4(BARD1):c.755del (p.Pro252fs)
|
rs1553622471
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)
|
rs1060501288
|
|
NM_000465.4(BARD1):c.824T>A (p.Leu275Ter)
|
rs765629130
|
|
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
|
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.858dup (p.Glu287fs)
|
rs1553622397
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000465.4(BARD1):c.891_895del (p.Val298fs)
|
rs1574818696
|
|
NM_000465.4(BARD1):c.899del (p.Pro300fs)
|
|
|
NM_000465.4(BARD1):c.920_921del (p.Tyr307fs)
|
rs1553622342
|
|
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter)
|
rs587781728
|
|
NM_000465.4(BARD1):c.947_949delinsAA (p.Leu316_Glu317delinsTer)
|
|
|
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
|
|
|
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
|
|
|
NM_000465.4(BARD1):c.975_976del (p.His325fs)
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
NM_000535.5:c.804-60_804-59insSVA
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.7(PMS2):c.1010del (p.Thr337fs)
|
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1021dup (p.Arg341fs)
|
|
|
NM_000535.7(PMS2):c.1024C>T (p.Gln342Ter)
|
|
|
NM_000535.7(PMS2):c.1024del (p.Gln342fs)
|
|
|
NM_000535.7(PMS2):c.1040del (p.Glu347fs)
|
|
|
NM_000535.7(PMS2):c.1046del (p.Lys349fs)
|
|
|
NM_000535.7(PMS2):c.1046dup (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
|
|
|
NM_000535.7(PMS2):c.1064T>A (p.Leu355Ter)
|
|
|
NM_000535.7(PMS2):c.1064del (p.Val354_Leu355insTer)
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1068del (p.Thr357fs)
|
rs1554298741
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1079del (p.Ile360fs)
|
|
|
NM_000535.7(PMS2):c.1082_1094del (p.Gly361fs)
|
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1144G>C (p.Gly382Arg)
|
rs779512948
|
|
NM_000535.7(PMS2):c.1148del (p.Asn383fs)
|
|
|
NM_000535.7(PMS2):c.1150_1151del (p.Leu384fs)
|
rs2128737358
|
|
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1156A>T (p.Lys386Ter)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1192G>T (p.Glu398Ter)
|
|
|
NM_000535.7(PMS2):c.1196del (p.Lys399fs)
|
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter)
|
rs876658862
|
|
NM_000535.7(PMS2):c.119_122dup (p.Leu42fs)
|
rs1554306391
|
|
NM_000535.7(PMS2):c.1201del (p.Asp401fs)
|
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1217dup (p.Leu406fs)
|
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
|
|
|
NM_000535.7(PMS2):c.1238_1239dup (p.Asp414fs)
|
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1245_1246del (p.Ser416fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.125T>G (p.Leu42Ter)
|
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1334_1344del (p.Ser445fs)
|
|
|
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)
|
rs876661256
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1356dup (p.Met453fs)
|
rs1583321194
|
|
NM_000535.7(PMS2):c.135_136del (p.Asn45fs)
|
rs1583418616
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.1376_1405del (p.Ser459_Arg469delinsTer)
|
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT (p.Pro470delinsValPheTer)
|
rs1554297781
|
|
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs)
|
rs1554297764
|
|
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)
|
rs876660459
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1515del (p.Phe506fs)
|
rs1583319050
|
|
NM_000535.7(PMS2):c.1534_1547del (p.Gly512fs)
|
|
|
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
|
|
|
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
|
rs1583318494
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1571del (p.Pro524fs)
|
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.1609G>T (p.Glu537Ter)
|
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.1640C>G (p.Ser547Ter)
|
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1658C>G (p.Ser553Ter)
|
|
|
NM_000535.7(PMS2):c.1663C>T (p.Gln555Ter)
|
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
NM_000535.7(PMS2):c.1675_1705delinsAG (p.Gly559fs)
|
|
|
NM_000535.7(PMS2):c.1678del (p.Cys560fs)
|
|
|
NM_000535.7(PMS2):c.1679_1707del (p.Gly559_Cys560insTer)
|
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs)
|
rs1064795345
|
|
NM_000535.7(PMS2):c.1694del (p.Leu565fs)
|
|
|
NM_000535.7(PMS2):c.16_17dup (p.Ser6fs)
|
|
|
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
|
|
|
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
|
rs1783004175
|
|
NM_000535.7(PMS2):c.1711del (p.Leu571fs)
|
|
|
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
|
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1743dup (p.Glu582fs)
|
|
|
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs)
|
rs1782992250
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1771del (p.Cys591fs)
|
|
|
NM_000535.7(PMS2):c.1777A>T (p.Lys593Ter)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1781T>A (p.Leu594Ter)
|
|
|
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter)
|
rs1782978316
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.1813del (p.Val605fs)
|
|
|
NM_000535.7(PMS2):c.1816del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.1831del (p.Ile611fs)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1833del (p.Asn612fs)
|
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1840_1843del (p.Lys614fs)
|
|
|
NM_000535.7(PMS2):c.1842del (p.Val615fs)
|
|
|
NM_000535.7(PMS2):c.1852del (p.Leu618fs)
|
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.1861del (p.Ser621fs)
|
rs2128722209
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1865_1887del (p.Met622fs)
|
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1896dup (p.His633fs)
|
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1909del (p.Gln637fs)
|
|
|
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter)
|
rs764342199
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1918G>T (p.Glu640Ter)
|
|
|
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
|
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1957del (p.Cys653fs)
|
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)
|
rs778531080
|
|
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)
|
rs1554297061
|
|
NM_000535.7(PMS2):c.1999G>T (p.Glu667Ter)
|
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2005dup (p.Ser669fs)
|
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2026_2027del (p.Met676fs)
|
|
|
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
|
|
|
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
|
rs1782465728
|
|
NM_000535.7(PMS2):c.2041del (p.Gln681fs)
|
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.2068A>T (p.Lys690Ter)
|
|
|
NM_000535.7(PMS2):c.208_209del (p.Asp70fs)
|
|
|
NM_000535.7(PMS2):c.2106del (p.Thr703fs)
|
|
|
NM_000535.7(PMS2):c.2113G>T (p.Glu705Ter)
|
rs267608161
|
|
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)
|
rs1562615196
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2119del (p.Tyr707fs)
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2121T>G (p.Tyr707Ter)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2128G>T (p.Glu710Ter)
|
|
|
NM_000535.7(PMS2):c.2135del (p.Leu712fs)
|
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2174+2T>G
|
|
|
NM_000535.7(PMS2):c.2177del (p.Pro726fs)
|
|
|
NM_000535.7(PMS2):c.2180dup (p.Thr728fs)
|
rs1583286301
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2197del (p.Ala733fs)
|
|
|
NM_000535.7(PMS2):c.2206G>T (p.Glu736Ter)
|
|
|
NM_000535.7(PMS2):c.2208del (p.Ala737fs)
|
rs2128683310
|
|
NM_000535.7(PMS2):c.2221G>T (p.Glu741Ter)
|
|
|
NM_000535.7(PMS2):c.2225dup (p.Asn742fs)
|
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2259del (p.Phe753fs)
|
|
|
NM_000535.7(PMS2):c.2259dup (p.Val754fs)
|
|
|
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter)
|
rs1583285344
|
|
NM_000535.7(PMS2):c.2273del (p.Asn758fs)
|
|
|
NM_000535.7(PMS2):c.2275+1G>A
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2281_2284del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter)
|
rs1554293991
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.232_235del (p.Glu78fs)
|
rs1583410315
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341dup (p.Gln781fs)
|
rs2128674468
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2353_2360del (p.Glu785fs)
|
|
|
NM_000535.7(PMS2):c.2357_2373del (p.Leu786fs)
|
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2385_2386dup (p.Val796fs)
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.24-1G>A
|
rs1785723689
|
|
NM_000535.7(PMS2):c.240del (p.Phe80fs)
|
rs1554304957
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2434_2437del (p.Cys812fs)
|
|
|
NM_000535.7(PMS2):c.2439del (p.Lys814fs)
|
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2446-1G>A
|
rs774583397
|
|
NM_000535.7(PMS2):c.2449_2452del (p.Met817fs)
|
|
|
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.2471del (p.Thr824fs)
|
rs1583270185
|
|
NM_000535.7(PMS2):c.2476G>T (p.Glu826Ter)
|
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.251-1G>A
|
|
|
NM_000535.7(PMS2):c.251-1G>T
|
rs764171734
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)
|
rs876661203
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.2534del (p.His845fs)
|
|
|
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)
|
rs1583269216
|
|
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
|
|
|
NM_000535.7(PMS2):c.28G>T (p.Glu10Ter)
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)
|
|
|
NM_000535.7(PMS2):c.319del (p.Arg107fs)
|
|
|
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
|
|
|
NM_000535.7(PMS2):c.324_325del (p.Glu109fs)
|
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.327del (p.Ala110fs)
|
|
|
NM_000535.7(PMS2):c.338C>G (p.Ser113Ter)
|
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.383del (p.Ser128fs)
|
|
|
NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
|
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3_13dup (p.Glu5fs)
|
|
|
NM_000535.7(PMS2):c.423del (p.Ile143fs)
|
|
|
NM_000535.7(PMS2):c.429del (p.Ile144fs)
|
|
|
NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)
|
|
|
NM_000535.7(PMS2):c.439del (p.Thr147fs)
|
|
|
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.447C>A (p.Tyr149Ter)
|
rs1224505288
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.451dup (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452_457delinsCCCCG (p.Arg151fs)
|
rs1583403114
|
|
NM_000535.7(PMS2):c.452delinsCA (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.457del (p.Arg153fs)
|
rs1785207289
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.510del (p.His170fs)
|
rs1064793365
|
|
NM_000535.7(PMS2):c.512del (p.Lys171fs)
|
|
|
NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.534del (p.Lys179fs)
|
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
|
|
|
NM_000535.7(PMS2):c.546del (p.Met184fs)
|
|
|
NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)
|
|
|
NM_000535.7(PMS2):c.556del (p.Gln186fs)
|
|
|
NM_000535.7(PMS2):c.566_567del (p.His189fs)
|
|
|
NM_000535.7(PMS2):c.576del (p.Tyr191_Cys192insTer)
|
|
|
NM_000535.7(PMS2):c.595dup (p.Arg199fs)
|
|
|
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
|
|
|
NM_000535.7(PMS2):c.625G>T (p.Gly209Ter)
|
|
|
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
|
|
|
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.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.679_689dup (p.Phe231fs)
|
|
|
NM_000535.7(PMS2):c.686_687del (p.Ser229fs)
|
rs746766787
|
|
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.700A>T (p.Lys234Ter)
|
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.705+1G>A
|
rs267608147
|
|
NM_000535.7(PMS2):c.707_709del (p.Leu236_Gln237delinsTer)
|
|
|
NM_000535.7(PMS2):c.710_714del (p.Gln237fs)
|
rs1784546407
|
|
NM_000535.7(PMS2):c.710_718delinsT (p.Gln237fs)
|
|
|
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.730del (p.Gln244fs)
|
rs1583375062
|
|
NM_000535.7(PMS2):c.736_741delinsGTGTGTGTGAA (p.Pro246fs)
|
|
|
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.740del (p.Pro247fs)
|
|
|
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
|
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.752_757delinsCGTGTGTT (p.Val251fs)
|
rs1583374436
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.756_757dup (p.Glu253fs)
|
|
|
NM_000535.7(PMS2):c.758_759del (p.Glu253fs)
|
rs1583374404
|
|
NM_000535.7(PMS2):c.760G>T (p.Glu254Ter)
|
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
|
|
|
NM_000535.7(PMS2):c.767del (p.Gly256fs)
|
|
|
NM_000535.7(PMS2):c.778_780delinsCG (p.Ser260fs)
|
|
|
NM_000535.7(PMS2):c.778_781del (p.Ser260fs)
|
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.799_800insAAAT (p.Phe267Ter)
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.801_802del (p.Phe267fs)
|
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+2T>A
|
|
|
NM_000535.7(PMS2):c.803+2T>G
|
|
|
NM_000535.7(PMS2):c.803_804insAAATA (p.Tyr268Ter)
|
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
NM_000535.7(PMS2):c.809C>A (p.Ser270Ter)
|
|
|
NM_000535.7(PMS2):c.813_826del (p.Phe272fs)
|
|
|
NM_000535.7(PMS2):c.81C>A (p.Cys27Ter)
|
|
|
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.830_831insA (p.His278fs)
|
|
|
NM_000535.7(PMS2):c.831del (p.His278fs)
|
|
|
NM_000535.7(PMS2):c.84del (p.Gln30fs)
|
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.852_855del (p.Arg287fs)
|
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.859A>T (p.Arg287Ter)
|
|
|
NM_000535.7(PMS2):c.859dup (p.Arg287fs)
|
rs1554300763
|
|
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.865_866insCTGT (p.Phe289fs)
|
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.892_893insT (p.Asp298fs)
|
|
|
NM_000535.7(PMS2):c.899dup (p.Val302fs)
|
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903G>A (p.Lys301=)
|
rs267608153
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.911_912del (p.Arg304fs)
|
|
|
NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs)
|
rs1554299430
|
|
NM_000535.7(PMS2):c.930C>A (p.Tyr310Ter)
|
|
|
NM_000535.7(PMS2):c.936_958del (p.Met312fs)
|
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.988+1G>C
|
rs757110564
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000546.5(TP53):c.766_770delACACTins16 (p.?)
|
|
|
NM_000546.6(TP53):c.1005_1010del (p.Glu336_Arg337del)
|
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1010_1011del (p.Arg337fs)
|
rs1131691040
|
|
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)
|
rs17882252
|
|
NM_000546.6(TP53):c.1018del (p.Met340fs)
|
rs1131691005
|
|
NM_000546.6(TP53):c.1019_1028del (p.Met340fs)
|
rs1597349257
|
|
NM_000546.6(TP53):c.101_102del (p.Pro34fs)
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1024del (p.Arg342fs)
|
rs1131691022
|
|
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)
|
rs375338359
|
|
NM_000546.6(TP53):c.1028del (p.Glu343fs)
|
rs2150994907
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.1049_1050del (p.Leu350fs)
|
rs1131691008
|
|
NM_000546.6(TP53):c.104del (p.Leu35fs)
|
|
|
NM_000546.6(TP53):c.105del (p.Leu35fs)
|
|
|
NM_000546.6(TP53):c.121_124dup (p.Asp42delinsGlyTer)
|
rs1555526784
|
|
NM_000546.6(TP53):c.121del (p.Asp41fs)
|
|
|
NM_000546.6(TP53):c.128del (p.Asp42_Leu43insTer)
|
rs2073485631
|
|
NM_000546.6(TP53):c.137delinsGT (p.Ser46fs)
|
rs587782650
|
|
NM_000546.6(TP53):c.140del (p.Pro47fs)
|
rs1567557016
|
|
NM_000546.6(TP53):c.140dup (p.Asp48fs)
|
|
|
NM_000546.6(TP53):c.155_157dup (p.Trp53Ter)
|
rs587782609
|
|
NM_000546.6(TP53):c.155_164del (p.Gln52fs)
|
|
|
NM_000546.6(TP53):c.156_158dup (p.Trp53Ter)
|
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.168del (p.Asp57fs)
|
|
|
NM_000546.6(TP53):c.200del (p.Pro67fs)
|
|
|
NM_000546.6(TP53):c.214_215insG (p.Pro72fs)
|
rs1131691014
|
|
NM_000546.6(TP53):c.216del (p.Val73fs)
|
rs730882018
|
|
NM_000546.6(TP53):c.216dup (p.Val73fs)
|
rs730882018
|
|
NM_000546.6(TP53):c.227_279del (p.Ala76fs)
|
rs1555526610
|
|
NM_000546.6(TP53):c.248_249del (p.Ala83fs)
|
rs1131691010
|
|
NM_000546.6(TP53):c.261_270del (p.Ala88fs)
|
|
|
NM_000546.6(TP53):c.273G>A (p.Trp91Ter)
|
rs876660548
|
|
NM_000546.6(TP53):c.277_278del (p.Leu93fs)
|
rs1597374098
|
|
NM_000546.6(TP53):c.279_280dup (p.Ser94fs)
|
|
|
NM_000546.6(TP53):c.281C>A (p.Ser94Ter)
|
|
|
NM_000546.6(TP53):c.294_297del (p.Ser99fs)
|
rs730882015
|
|
NM_000546.6(TP53):c.298C>T (p.Gln100Ter)
|
rs1567555994
|
|
NM_000546.6(TP53):c.304del (p.Thr102fs)
|
|
|
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter)
|
rs1597373901
|
|
NM_000546.6(TP53):c.310_329del (p.Gln104fs)
|
rs1555526565
|
|
NM_000546.6(TP53):c.323_329dup (p.Leu111fs)
|
rs1131691004
|
|
NM_000546.6(TP53):c.324_328delinsAAAA (p.Phe109fs)
|
rs1131691031
|
|
NM_000546.6(TP53):c.325_328del (p.Phe109fs)
|
rs1597373769
|
|
NM_000546.6(TP53):c.326delinsCCCAA (p.Phe109fs)
|
rs1131691038
|
|
NM_000546.6(TP53):c.328del (p.Arg110fs)
|
rs587780066
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.337T>G (p.Phe113Val)
|
rs587781642
|
|
NM_000546.6(TP53):c.340_346dup (p.Ser116fs)
|
rs1555526524
|
|
NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs)
|
|
|
NM_000546.6(TP53):c.354del (p.Ala119fs)
|
|
|
NM_000546.6(TP53):c.357del (p.Lys120fs)
|
rs1597373517
|
|
NM_000546.6(TP53):c.358A>G (p.Lys120Glu)
|
rs121912658
|
|
NM_000546.6(TP53):c.365_366del (p.Val122fs)
|
rs587780067
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.375+1dup
|
rs1555526470
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.375G>T (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.376-1G>T
|
rs868137297
|
|
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)
|
rs1555526335
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.379T>A (p.Ser127Thr)
|
rs1597371694
|
|
NM_000546.6(TP53):c.379T>C (p.Ser127Pro)
|
rs1597371694
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
NM_000546.6(TP53):c.389T>A (p.Leu130His)
|
rs1131691013
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del)
|
rs879254214
|
|
NM_000546.6(TP53):c.390_426del (p.Asn131fs)
|
rs1597371154
|
|
NM_000546.6(TP53):c.391A>T (p.Asn131Tyr)
|
rs587782160
|
|
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)
|
rs1131691037
|
|
NM_000546.6(TP53):c.394_409del (p.Lys132fs)
|
rs786203589
|
|
NM_000546.6(TP53):c.398T>C (p.Met133Thr)
|
rs28934873
|
|
NM_000546.6(TP53):c.398dup (p.Met133fs)
|
rs1597371512
|
|
NM_000546.6(TP53):c.400T>A (p.Phe134Ile)
|
rs267605077
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403_405delinsGG (p.Cys135fs)
|
rs1131691036
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.406C>G (p.Gln136Glu)
|
rs1555526268
|
|
NM_000546.6(TP53):c.412G>C (p.Ala138Pro)
|
rs28934875
|
|
NM_000546.6(TP53):c.416_420dup (p.Cys141fs)
|
rs1555526250
|
|
NM_000546.6(TP53):c.418_427del (p.Thr140fs)
|
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.427del (p.Val143fs)
|
|
|
NM_000546.6(TP53):c.430C>T (p.Gln144Ter)
|
rs757274881
|
|
NM_000546.6(TP53):c.430del (p.Gln144fs)
|
|
|
NM_000546.6(TP53):c.430dup (p.Gln144fs)
|
|
|
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)
|
rs786203071
|
|
NM_000546.6(TP53):c.434T>A (p.Leu145Gln)
|
rs587782197
|
|
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)
|
rs1206165503
|
|
NM_000546.6(TP53):c.438G>A (p.Trp146Ter)
|
rs1131691026
|
|
NM_000546.6(TP53):c.445del (p.Ser149fs)
|
rs1064793929
|
|
NM_000546.6(TP53):c.447_459del (p.Thr150fs)
|
rs137852790
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.454C>T (p.Pro152Ser)
|
rs767328513
|
|
NM_000546.6(TP53):c.454_466del (p.Pro152fs)
|
rs876659215
|
|
NM_000546.6(TP53):c.455_456insT (p.Pro153fs)
|
|
|
NM_000546.6(TP53):c.455dup (p.Pro153fs)
|
rs730882019
|
|
NM_000546.6(TP53):c.45del (p.Gln16fs)
|
rs1555526997
|
|
NM_000546.6(TP53):c.461G>T (p.Gly154Val)
|
rs762846821
|
|
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)
|
rs786202752
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.470T>A (p.Val157Asp)
|
rs1131691023
|
|
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)
|
rs587782144
|
|
NM_000546.6(TP53):c.473_477del (p.Arg158fs)
|
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.481_497dup (p.Gln167fs)
|
rs1597370230
|
|
NM_000546.6(TP53):c.484_487delinsGG (p.Ile162fs)
|
|
|
NM_000546.6(TP53):c.485_488dup (p.Lys164fs)
|
|
|
NM_000546.6(TP53):c.486_489delinsTGTAGACTGCTTGT (p.Tyr163fs)
|
rs1597370312
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
rs730882001
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.501del (p.Gln167fs)
|
rs1567553148
|
|
NM_000546.6(TP53):c.503A>G (p.His168Arg)
|
rs867114783
|
|
NM_000546.6(TP53):c.503A>T (p.His168Leu)
|
|
|
NM_000546.6(TP53):c.509_512del (p.Thr170fs)
|
rs1555526082
|
|
NM_000546.6(TP53):c.511_515dup (p.Val173fs)
|
rs786202514
|
|
NM_000546.6(TP53):c.512A>G (p.Glu171Gly)
|
|
|
NM_000546.6(TP53):c.514G>T (p.Val172Phe)
|
rs1131691043
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)
|
rs28934578
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
NM_000546.6(TP53):c.528C>A (p.Cys176Ter)
|
|
|
NM_000546.6(TP53):c.52del (p.Thr18fs)
|
rs876658627
|
|
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)
|
rs751477326
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.533del (p.His178fs)
|
|
|
NM_000546.6(TP53):c.537T>A (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)
|
rs879253911
|
|
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)
|
rs397514495
|
|
NM_000546.6(TP53):c.560-19_560-9del
|
rs2073351094
|
|
NM_000546.6(TP53):c.560-1G>C
|
rs1202793339
|
|
NM_000546.6(TP53):c.563del (p.Leu188fs)
|
rs1597368970
|
|
NM_000546.6(TP53):c.569del (p.Pro190fs)
|
rs1597368891
|
|
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)
|
rs866380588
|
|
NM_000546.6(TP53):c.575del (p.Gln192fs)
|
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
NM_000546.6(TP53):c.58del (p.Ser20fs)
|
rs1131691018
|
|
NM_000546.6(TP53):c.592del (p.Glu198fs)
|
rs1131691035
|
|
NM_000546.6(TP53):c.599del (p.Asn200fs)
|
rs1131691011
|
|
NM_000546.6(TP53):c.602dup (p.Leu201fs)
|
|
|
NM_000546.6(TP53):c.610G>T (p.Glu204Ter)
|
rs2073336758
|
|
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
|
rs1057520007
|
|
NM_000546.6(TP53):c.615T>A (p.Tyr205Ter)
|
rs786202222
|
|
NM_000546.6(TP53):c.623A>T (p.Asp208Val)
|
rs1464727668
|
|
NM_000546.6(TP53):c.626_627del (p.Arg209fs)
|
rs1057517840
|
|
NM_000546.6(TP53):c.631_632del (p.Thr211fs)
|
|
|
NM_000546.6(TP53):c.635_636del (p.Phe212fs)
|
rs864309495
|
|
NM_000546.6(TP53):c.636del (p.Arg213fs)
|
rs864309495
|
|
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
NM_000546.6(TP53):c.642_643del (p.His214fs)
|
rs1597368095
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.643_644dup (p.Ser215fs)
|
rs1555525759
|
|
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)
|
rs587782177
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
NM_000546.6(TP53):c.649del (p.Val217fs)
|
|
|
NM_000546.6(TP53):c.651_666del (p.Val218fs)
|
rs786202315
|
|
NM_000546.6(TP53):c.655_670del (p.Pro219fs)
|
rs1555525710
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
|
rs121912666
|
|
NM_000546.6(TP53):c.662del (p.Glu221fs)
|
rs878854071
|
|
NM_000546.6(TP53):c.672G>A (p.Glu224=)
|
rs267605076
|
|
NM_000546.6(TP53):c.673-1G>A
|
rs878854073
|
|
NM_000546.6(TP53):c.673-2A>G
|
rs1555525585
|
|
NM_000546.6(TP53):c.695T>G (p.Ile232Ser)
|
rs587781589
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.706T>C (p.Tyr236His)
|
rs587782289
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
NM_000546.6(TP53):c.708del (p.Asn235_Tyr236insTer)
|
|
|
NM_000546.6(TP53):c.710_718del (p.Met237_Asn239del)
|
|
|
NM_000546.6(TP53):c.711G>C (p.Met237Ile)
|
|
|
NM_000546.6(TP53):c.712T>A (p.Cys238Ser)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.713_714del (p.Met237_Cys238insTer)
|
rs1555525539
|
|
NM_000546.6(TP53):c.714del (p.Met237_Cys238insTer)
|
rs1555525537
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.715_722delinsT (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.718A>G (p.Ser240Gly)
|
rs1567549584
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.723del (p.Cys242fs)
|
rs2151021244
|
|
NM_000546.6(TP53):c.724T>C (p.Cys242Arg)
|
rs1057519982
|
|
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)
|
rs121912655
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del)
|
rs1555525486
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
|
rs985033810
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
rs28934575
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.736A>G (p.Met246Val)
|
rs483352695
|
|
NM_000546.6(TP53):c.737T>G (p.Met246Arg)
|
rs587780074
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000546.6(TP53):c.752T>C (p.Ile251Thr)
|
rs730882027
|
|
NM_000546.6(TP53):c.752del (p.Ile251fs)
|
|
|
NM_000546.6(TP53):c.754del (p.Leu252fs)
|
rs1555525470
|
|
NM_000546.6(TP53):c.757A>G (p.Thr253Ala)
|
rs1597364185
|
|
NM_000546.6(TP53):c.757dup (p.Thr253fs)
|
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
NM_000546.6(TP53):c.766A>C (p.Thr256Pro)
|
rs587781433
|
|
NM_000546.6(TP53):c.766_770delinsCAGGTCAGGACATCCA (p.Thr256fs)
|
rs876659098
|
|
NM_000546.6(TP53):c.770T>A (p.Leu257Gln)
|
rs28934577
|
|
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.776A>T (p.Asp259Val)
|
rs745425759
|
|
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs)
|
rs397516438
|
|
NM_000546.6(TP53):c.783-2A>C
|
rs1060501207
|
|
NM_000546.6(TP53):c.783-2A>G
|
rs1060501207
|
|
NM_000546.6(TP53):c.785del (p.Gly262fs)
|
rs879253905
|
|
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)
|
rs879253942
|
|
NM_000546.6(TP53):c.796G>A (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.797G>T (p.Gly266Val)
|
rs193920774
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.800G>C (p.Arg267Pro)
|
rs587780075
|
|
NM_000546.6(TP53):c.801dup (p.Asn268fs)
|
rs1597362206
|
|
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)
|
rs1057519988
|
|
NM_000546.6(TP53):c.808T>C (p.Phe270Leu)
|
rs1057519988
|
|
NM_000546.6(TP53):c.808T>G (p.Phe270Val)
|
rs1057519988
|
|
NM_000546.6(TP53):c.808_817del (p.Phe270fs)
|
rs587781987
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
NM_000546.6(TP53):c.80del (p.Pro27fs)
|
rs1192416464
|
|
NM_000546.6(TP53):c.810dup (p.Glu271Ter)
|
rs1567548114
|
|
NM_000546.6(TP53):c.811G>T (p.Glu271Ter)
|
rs1060501191
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
NM_000546.6(TP53):c.814G>C (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
NM_000546.6(TP53):c.821T>A (p.Val274Asp)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
NM_000546.6(TP53):c.823T>G (p.Cys275Gly)
|
rs1057519983
|
|
NM_000546.6(TP53):c.826G>C (p.Ala276Pro)
|
rs1131691029
|
|
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)
|
rs786202082
|
|
NM_000546.6(TP53):c.827C>G (p.Ala276Gly)
|
rs786202082
|
|
NM_000546.6(TP53):c.831T>A (p.Cys277Ter)
|
rs1057523347
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)
|
rs1064793881
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
NM_000546.6(TP53):c.842_843insG (p.Asp281fs)
|
rs1555525226
|
|
NM_000546.6(TP53):c.843_862del (p.Asp281fs)
|
|
|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)
|
rs28934574
|
|
NM_000546.6(TP53):c.844del (p.Arg282fs)
|
rs1131691027
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
NM_000546.6(TP53):c.861_862dup (p.Asn288fs)
|
rs1555525158
|
|
NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs)
|
rs1555525156
|
|
NM_000546.6(TP53):c.86_96+4del
|
rs1555526916
|
|
NM_000546.6(TP53):c.872_890dup (p.His297fs)
|
rs2151014403
|
|
NM_000546.6(TP53):c.880G>T (p.Glu294Ter)
|
rs1057520607
|
|
NM_000546.6(TP53):c.880del (p.Glu294fs)
|
|
|
NM_000546.6(TP53):c.890del (p.His297fs)
|
|
|
NM_000546.6(TP53):c.892G>T (p.Glu298Ter)
|
rs201744589
|
|
NM_000546.6(TP53):c.89del (p.Asn30fs)
|
|
|
NM_000546.6(TP53):c.902del (p.Pro301fs)
|
rs876660726
|
|
NM_000546.6(TP53):c.906del (p.Ser303fs)
|
rs786202055
|
|
NM_000546.6(TP53):c.909_916dup (p.Arg306fs)
|
rs1597360326
|
|
NM_000546.6(TP53):c.90del (p.Asn30fs)
|
|
|
NM_000546.6(TP53):c.913A>T (p.Lys305Ter)
|
rs1597360340
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_000546.6(TP53):c.919+1G>A
|
rs1131691039
|
|
NM_000546.6(TP53):c.919+2T>G
|
rs1131691016
|
|
NM_000546.6(TP53):c.920-1G>A
|
rs587781702
|
|
NM_000546.6(TP53):c.920-1G>T
|
rs587781702
|
|
NM_000546.6(TP53):c.932dup (p.Asn311fs)
|
|
|
NM_000546.6(TP53):c.93del (p.Leu32fs)
|
rs2151045484
|
|
NM_000546.6(TP53):c.945_946del (p.Gln317fs)
|
rs2151011929
|
|
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)
|
rs764735889
|
|
NM_000546.6(TP53):c.950del (p.Gln317fs)
|
rs1555524976
|
|
NM_000546.6(TP53):c.951_954del (p.Pro318fs)
|
rs1597359403
|
|
NM_000546.6(TP53):c.958A>T (p.Lys320Ter)
|
rs2151011624
|
|
NM_000546.6(TP53):c.95del (p.Leu32fs)
|
|
|
NM_000546.6(TP53):c.96+1G>C
|
rs1131691003
|
|
NM_000546.6(TP53):c.965del (p.Pro322fs)
|
|
|
NM_000546.6(TP53):c.97-1G>A
|
rs1597375294
|
|
NM_000546.6(TP53):c.97-4_104del
|
|
|
NM_000546.6(TP53):c.973G>T (p.Gly325Ter)
|
rs863224500
|
|
NM_000546.6(TP53):c.976G>T (p.Glu326Ter)
|
rs876659384
|
|
NM_000546.6(TP53):c.976_977dup (p.Tyr327fs)
|
rs1597359235
|
|
NM_000546.6(TP53):c.97dup (p.Ser33fs)
|
rs1131691041
|
|
NM_000546.6(TP53):c.988del (p.Leu330fs)
|
rs2073149039
|
|
NM_000546.6(TP53):c.991C>T (p.Gln331Ter)
|
rs1597359130
|
|
NM_000546.6(TP53):c.993+1del
|
rs1131691033
|
|
NM_000546.6(TP53):c.994-1G>A
|
rs587782272
|
|
NM_000546.6(TP53):c.994-1G>C
|
rs587782272
|
|
NM_000546.6(TP53):c.994-2A>G
|
rs867389695
|
|
NM_000546.6(TP53):c.997del (p.Arg333fs)
|
|
|
NM_000548.5(TSC2):c.1061_1068dup (p.Ala357fs)
|
|
|
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)
|
rs1229561585
|
|
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
|
rs1596298721
|
|
NM_000548.5(TSC2):c.1126_1135del (p.Asp376fs)
|
|
|
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
|
|
|
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter)
|
rs1114167462
|
|
NM_000548.5(TSC2):c.1358_1359delinsAA (p.Phe453Ter)
|
rs2151165414
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1437_1438delinsG (p.Phe479fs)
|
|
|
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+2T>C
|
rs45517183
|
|
NM_000548.5(TSC2):c.1600-2A>G
|
rs1114167466
|
|
NM_000548.5(TSC2):c.160_161delinsG (p.Leu54fs)
|
|
|
NM_000548.5(TSC2):c.1716+1G>A
|
rs45517190
|
|
NM_000548.5(TSC2):c.1717-12CT[2]
|
rs769094940
|
|
NM_000548.5(TSC2):c.1741_1839+182del
|
|
|
NM_000548.5(TSC2):c.1753_1754del (p.Arg585fs)
|
|
|
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)
|
rs137854371
|
|
NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter)
|
rs1596336374
|
|
NM_000548.5(TSC2):c.1764_1765del (p.Glu588fs)
|
rs1555505103
|
|
NM_000548.5(TSC2):c.1791del (p.Tyr598fs)
|
|
|
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1852del (p.Leu618fs)
|
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1910_1931dup (p.Val645fs)
|
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer)
|
rs1555506395
|
|
NM_000548.5(TSC2):c.2180dup (p.Cys728fs)
|
|
|
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs)
|
rs137854247
|
|
NM_000548.5(TSC2):c.220G>T (p.Glu74Ter)
|
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.226_228delinsTAA (p.His76Ter)
|
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs)
|
rs1114167463
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
NM_000548.5(TSC2):c.2633_2639+1del
|
|
|
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs)
|
rs137854232
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2702dup (p.Leu902fs)
|
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2732del (p.Phe911fs)
|
|
|
NM_000548.5(TSC2):c.2743-1G>A
|
rs45517263
|
|
NM_000548.5(TSC2):c.2838-122G>A
|
rs1567489890
|
|
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)
|
rs45438592
|
|
NM_000548.5(TSC2):c.3059_3060insCCAT (p.Glu1021fs)
|
|
|
NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs)
|
rs1114167461
|
|
NM_000548.5(TSC2):c.3104del (p.Phe1035fs)
|
|
|
NM_000548.5(TSC2):c.3132-2A>G
|
|
|
NM_000548.5(TSC2):c.3164_3171dup (p.Lys1058fs)
|
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)
|
rs1064796511
|
|
NM_000548.5(TSC2):c.3298del (p.Val1100fs)
|
rs137854162
|
|
NM_000548.5(TSC2):c.337-1G>T
|
rs45517105
|
|
NM_000548.5(TSC2):c.3398-1G>A
|
rs45517293
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.360_361del (p.Arg120fs)
|
rs876658878
|
|
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs)
|
rs137854393
|
|
NM_000548.5(TSC2):c.3777del (p.Ser1259fs)
|
rs1114167459
|
|
NM_000548.5(TSC2):c.4079del (p.Glu1360fs)
|
|
|
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4263dup (p.Thr1422fs)
|
|
|
NM_000548.5(TSC2):c.4275_4294del (p.Glu1426fs)
|
|
|
NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter)
|
rs45469392
|
|
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs)
|
rs137854307
|
|
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4537del (p.Glu1513fs)
|
rs137854028
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4566del (p.Asn1522fs)
|
|
|
NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter)
|
|
|
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.4663-2A>G
|
|
|
NM_000548.5(TSC2):c.4827_4835delinsG (p.Cys1609fs)
|
|
|
NM_000548.5(TSC2):c.4849+1G>A
|
rs45517375
|
|
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5043C>A (p.Asn1681Lys)
|
|
|
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5111_5112dup (p.Asp1705fs)
|
|
|
NM_000548.5(TSC2):c.5115_5116dup (p.Arg1706fs)
|
|
|
NM_000548.5(TSC2):c.5161-2A>G
|
rs1114167468
|
|
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.536_537del (p.Val179fs)
|
|
|
NM_000548.5(TSC2):c.706dup (p.Leu236fs)
|
|
|
NM_000548.5(TSC2):c.751G>T (p.Glu251Ter)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
NM_000548.5(TSC2):c.975+2T>C
|
rs2151110209
|
|
NM_000551.3(VHL):c.464_480del17
|
|
|
NM_000551.4(VHL):c.163del (p.Glu55fs)
|
rs869025615
|
|
NM_000551.4(VHL):c.180_193del (p.Pro61fs)
|
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.191dup (p.Ser65fs)
|
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
NM_000551.4(VHL):c.204dup (p.Arg69fs)
|
|
|
NM_000551.4(VHL):c.207_208dup (p.Glu70fs)
|
|
|
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)
|
rs5030802
|
|
NM_000551.4(VHL):c.212_213dup (p.Ser72fs)
|
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.226_227del (p.Phe76fs)
|
rs1060503552
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)
|
rs794726890
|
|
NM_000551.4(VHL):c.250G>C (p.Val84Leu)
|
rs5030827
|
|
NM_000551.4(VHL):c.250G>T (p.Val84Leu)
|
rs5030827
|
|
NM_000551.4(VHL):c.250del (p.Val84fs)
|
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)
|
rs730882034
|
|
NM_000551.4(VHL):c.261_262dup (p.Trp88fs)
|
|
|
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)
|
rs119103277
|
|
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)
|
rs869025622
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
rs5030808
|
|
NM_000551.4(VHL):c.278del (p.Gly93fs)
|
rs1131690964
|
|
NM_000551.4(VHL):c.286C>T (p.Gln96Ter)
|
rs1131690959
|
|
NM_000551.4(VHL):c.320G>A (p.Arg107His)
|
rs193922609
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)
|
rs765978945
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)
|
rs751232153
|
|
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)
|
rs5030810
|
|
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)
|
rs869025636
|
|
NM_000551.4(VHL):c.341-1G>A
|
rs1575927648
|
|
NM_000551.4(VHL):c.343C>T (p.His115Tyr)
|
|
|
NM_000551.4(VHL):c.344A>G (p.His115Arg)
|
rs5030812
|
|
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)
|
rs727504215
|
|
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)
|
rs5030830
|
|
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)
|
rs5030830
|
|
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)
|
rs1553619948
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
NM_000551.4(VHL):c.358del (p.Arg120fs)
|
rs1131690956
|
|
NM_000551.4(VHL):c.363dup (p.Ala122fs)
|
rs1575927767
|
|
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)
|
rs2125128327
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
NM_000551.4(VHL):c.388del (p.Val130fs)
|
rs1553619957
|
|
NM_000551.4(VHL):c.390del (p.Asn131fs)
|
|
|
NM_000551.4(VHL):c.414A>G (p.Pro138=)
|
rs869025648
|
|
NM_000551.4(VHL):c.418_419insA (p.Leu140fs)
|
rs1131690955
|
|
NM_000551.4(VHL):c.422dup (p.Asn141fs)
|
rs1553619976
|
|
NM_000551.4(VHL):c.426del (p.Asp143fs)
|
|
|
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)
|
rs587780077
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)
|
rs869025655
|
|
NM_000551.4(VHL):c.461C>T (p.Pro154Leu)
|
rs1399097617
|
|
NM_000551.4(VHL):c.463+1G>A
|
rs869025657
|
|
NM_000551.4(VHL):c.463+1G>T
|
rs869025657
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)
|
rs397516441
|
|
NM_000551.4(VHL):c.472C>G (p.Leu158Val)
|
rs1559429613
|
|
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)
|
rs121913346
|
|
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)
|
rs5030818
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
NM_000551.4(VHL):c.482G>C (p.Arg161Pro)
|
|
|
NM_000551.4(VHL):c.483del (p.Cys162fs)
|
rs1696355438
|
|
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)
|
rs5030622
|
|
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)
|
rs5030622
|
|
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)
|
rs5030819
|
|
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)
|
rs267607170
|
|
NM_000551.4(VHL):c.496G>T (p.Val166Phe)
|
rs104893825
|
|
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)
|
rs5030820
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)
|
rs5030821
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.517G>T (p.Glu173Ter)
|
rs1575932228
|
|
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)
|
rs193922613
|
|
NM_000551.4(VHL):c.524_527del (p.Asn174_Tyr175insTer)
|
|
|
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)
|
rs5030822
|
|
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)
|
rs5030822
|
|
NM_000551.4(VHL):c.533_534del (p.Leu178fs)
|
rs1559429736
|
|
NM_000551.4(VHL):c.543dup (p.Arg182fs)
|
rs1131690958
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)
|
rs864622109
|
|
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)
|
rs5030825
|
|
NM_000551.4(VHL):c.592_607del (p.Leu198fs)
|
|
|
NM_001042492.3(NF1):c.1218del (p.His407fs)
|
rs1131691106
|
|
NM_001042492.3(NF1):c.1255del (p.Thr419fs)
|
rs1555611105
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)
|
rs1131691085
|
|
NM_001042492.3(NF1):c.1299T>A (p.Tyr433Ter)
|
rs876660099
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.154del (p.Ser52fs)
|
rs1131691109
|
|
NM_001042492.3(NF1):c.1551_1564del (p.Glu517fs)
|
rs1131691068
|
|
NM_001042492.3(NF1):c.1584del (p.Leu529fs)
|
rs876658693
|
|
NM_001042492.3(NF1):c.1714del (p.Glu572fs)
|
rs876660135
|
|
NM_001042492.3(NF1):c.1721+1G>T
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1961del (p.Pro654fs)
|
rs1131691108
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter)
|
rs1131691099
|
|
NM_001042492.3(NF1):c.2178del (p.Ser727fs)
|
rs786202954
|
|
NM_001042492.3(NF1):c.2237del (p.Asn746fs)
|
rs1555613838
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2409+2T>G
|
rs876660826
|
|
NM_001042492.3(NF1):c.2483del (p.Leu828fs)
|
rs1131691069
|
|
NM_001042492.3(NF1):c.2589T>G (p.Tyr863Ter)
|
rs587782814
|
|
NM_001042492.3(NF1):c.2589_2592del (p.Ser864fs)
|
rs876658207
|
|
NM_001042492.3(NF1):c.2622_2623insA (p.Gly875fs)
|
rs587781933
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.2753del (p.Lys918fs)
|
rs1131691078
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2952del (p.Gln985fs)
|
rs1555614453
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter)
|
rs1131691104
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)
|
rs876658658
|
|
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter)
|
rs786202023
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3514del (p.Asp1172fs)
|
rs876660580
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs)
|
rs786203614
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3871-2A>G
|
rs1131691077
|
|
NM_001042492.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs)
|
rs786203500
|
|
NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter)
|
rs876658235
|
|
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter)
|
rs1131691087
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4266dup (p.Glu1423Ter)
|
rs876659964
|
|
NM_001042492.3(NF1):c.4627del (p.Ala1544fs)
|
rs1131691088
|
|
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.4765del (p.Thr1589fs)
|
rs1131691098
|
|
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)
|
rs876658492
|
|
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
|
|
|
NM_001042492.3(NF1):c.4904_4905insAAT (p.Tyr1635Ter)
|
rs587781780
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
NM_001042492.3(NF1):c.5023_5024del (p.Ser1675fs)
|
rs876660286
|
|
NM_001042492.3(NF1):c.5269-1G>A
|
rs876660141
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)
|
rs786203307
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.560del (p.Cys187fs)
|
rs1555607107
|
|
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)
|
rs876660212
|
|
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)
|
rs786203896
|
|
NM_001042492.3(NF1):c.5812+1G>A
|
rs876658854
|
|
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)
|
rs587782088
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)
|
rs863224835
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)
|
rs786203448
|
|
NM_001042492.3(NF1):c.629T>G (p.Leu210Ter)
|
rs876658570
|
|
NM_001042492.3(NF1):c.6306_6307insT (p.Leu2103fs)
|
rs876659471
|
|
NM_001042492.3(NF1):c.6358_6359insTTTAA (p.Ala2120delinsValTer)
|
rs1131691133
|
|
NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs)
|
rs786203806
|
|
NM_001042492.3(NF1):c.6525_6537del (p.Ile2176fs)
|
rs1131691071
|
|
NM_001042492.3(NF1):c.653dup (p.Ala219fs)
|
rs1131691094
|
|
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter)
|
rs1131691091
|
|
NM_001042492.3(NF1):c.6569_6570del (p.Gly2190fs)
|
rs1131691076
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)
|
rs1131691093
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.7028_7031del (p.His2343fs)
|
rs1131691083
|
|
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter)
|
rs769048538
|
|
NM_001042492.3(NF1):c.7102del (p.Glu2368fs)
|
rs1131691082
|
|
NM_001042492.3(NF1):c.7110_7111del (p.His2370fs)
|
rs1555535416
|
|
NM_001042492.3(NF1):c.7195del (p.Arg2399fs)
|
rs1131691102
|
|
NM_001042492.3(NF1):c.7234del (p.Ile2412fs)
|
rs876658245
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7392del (p.Asp2465fs)
|
rs786202180
|
|
NM_001042492.3(NF1):c.7422dup (p.Thr2475fs)
|
rs1131691107
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)
|
rs1131691090
|
|
NM_001042492.3(NF1):c.7869+1G>A
|
rs1329683225
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter)
|
rs1131691074
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter)
|
rs786203443
|
|
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter)
|
rs771764281
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.955dup (p.Ser319fs)
|
rs876660931
|
|
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.1041T>A (p.Cys347Ter)
|
rs1114167685
|
|
NM_001048174.2(MUTYH):c.1043_1055delinsGCCCT (p.Val348fs)
|
|
|
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter)
|
rs745910470
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1072C>T (p.Gln358Ter)
|
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
|
|
|
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)
|
rs863224501
|
|
NM_001048174.2(MUTYH):c.1142G>A (p.Trp381Ter)
|
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1178dup (p.Gln394fs)
|
|
|
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)
|
rs1060501321
|
|
NM_001048174.2(MUTYH):c.1183del (p.Glu395fs)
|
rs1570373385
|
|
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)
|
rs1553125677
|
|
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)
|
rs1060501325
|
|
NM_001048174.2(MUTYH):c.119_122dup (p.Arg42fs)
|
|
|
NM_001048174.2(MUTYH):c.1213del (p.Ala405fs)
|
rs1553125622
|
|
NM_001048174.2(MUTYH):c.1239+1G>A
|
|
|
NM_001048174.2(MUTYH):c.126del (p.Arg42fs)
|
|
|
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)
|
rs1553125243
|
|
NM_001048174.2(MUTYH):c.1284T>G (p.Tyr428Ter)
|
|
|
NM_001048174.2(MUTYH):c.1287del (p.Leu430fs)
|
rs1570366181
|
|
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs)
|
rs1553125075
|
|
NM_001048174.2(MUTYH):c.1329del (p.Gly444fs)
|
|
|
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.1359del (p.His454fs)
|
|
|
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.181_182del (p.Asp61fs)
|
|
|
NM_001048174.2(MUTYH):c.190G>T (p.Glu64Ter)
|
|
|
NM_001048174.2(MUTYH):c.192dup (p.Val65fs)
|
rs1570443585
|
|
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)
|
rs1553130185
|
|
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.255G>A (p.Trp85Ter)
|
|
|
NM_001048174.2(MUTYH):c.256_260delinsC (p.Arg86fs)
|
|
|
NM_001048174.2(MUTYH):c.274del (p.Glu92fs)
|
rs786203213
|
|
NM_001048174.2(MUTYH):c.292_293del (p.Arg98fs)
|
|
|
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter)
|
rs774798236
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)
|
rs730881832
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
NM_001048174.2(MUTYH):c.310del (p.Val104fs)
|
rs1553129676
|
|
NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter)
|
rs876659625
|
|
NM_001048174.2(MUTYH):c.360C>G (p.Tyr120Ter)
|
rs1570433022
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter)
|
rs1645261795
|
|
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)
|
rs876660787
|
|
NM_001048174.2(MUTYH):c.387_389delinsAA (p.Thr130fs)
|
rs1570428456
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001048174.2(MUTYH):c.420+2T>C
|
rs587782730
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.430C>T (p.Gln144Ter)
|
|
|
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter)
|
rs1570423722
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)
|
rs1553128813
|
|
NM_001048174.2(MUTYH):c.47del (p.Ala16fs)
|
|
|
NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter)
|
rs2149151527
|
|
NM_001048174.2(MUTYH):c.554del (p.Pro185fs)
|
|
|
NM_001048174.2(MUTYH):c.60del (p.Arg22fs)
|
rs1060501336
|
|
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)
|
rs1064793197
|
|
NM_001048174.2(MUTYH):c.663del (p.Ile221fs)
|
|
|
NM_001048174.2(MUTYH):c.66del (p.Arg22fs)
|
|
|
NM_001048174.2(MUTYH):c.725delinsAG (p.Val242fs)
|
rs1553127825
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.77del (p.Ala26fs)
|
|
|
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter)
|
rs1553127659
|
|
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp)
|
rs730881834
|
|
NM_001048174.2(MUTYH):c.879del (p.Ser294fs)
|
rs776362892
|
|
NM_001048174.2(MUTYH):c.887dup (p.Ser298fs)
|
|
|
NM_001048174.2(MUTYH):c.957_958del (p.Glu319fs)
|
|
|
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)
|
rs1060501324
|
|
NM_001127511.3(APC):c.-191T>C
|
rs879253783
|
|
NM_001127511.3(APC):c.-195A>C
|
rs879253782
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)
|
rs767402084
|
|
NM_001128849.1(SMARCA4):c.3874delG
|
|
|
NM_001258271.2(MLH1):c.1896+1221_1896+1223del
|
|
|
NM_001258271.2(MLH1):c.1896+834dup
|
|
|
NM_001330368.2(C11orf65):c.641-34150del
|
rs1555135341
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
NM_001354629.2(MLH1):c.208-3445_208-3439del
|
rs730881734
|
|
NM_001370259.2(MEN1):c.1001_1005dup (p.Glu336fs)
|
rs1114167483
|
|
NM_001370259.2(MEN1):c.1004delinsTT (p.Arg335fs)
|
rs1114167506
|
|
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)
|
rs2136118998
|
|
NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter)
|
rs1592643178
|
|
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)
|
rs1114167482
|
|
NM_001370259.2(MEN1):c.1049+1G>A
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+2T>G
|
|
|
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)
|
rs767078097
|
|
NM_001370259.2(MEN1):c.1059C>G (p.Tyr353Ter)
|
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
NM_001370259.2(MEN1):c.1099del (p.Glu366_Val367insTer)
|
|
|
NM_001370259.2(MEN1):c.1100_1131del (p.Val367fs)
|
rs1592640213
|
|
NM_001370259.2(MEN1):c.1110del (p.Asp370fs)
|
rs794728658
|
|
NM_001370259.2(MEN1):c.1132G>T (p.Glu378Ter)
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1154_1155dup (p.Gly386fs)
|
rs1592640081
|
|
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)
|
rs772588551
|
|
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.1180del (p.Ser394fs)
|
|
|
NM_001370259.2(MEN1):c.1202del (p.Gly401fs)
|
rs1941625647
|
|
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)
|
rs864622615
|
|
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs)
|
rs1114167513
|
|
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)
|
rs1114167524
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252G>T (p.Asp418Tyr)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1269G>A (p.Trp423Ter)
|
rs1114167533
|
|
NM_001370259.2(MEN1):c.1270G>T (p.Glu424Ter)
|
rs1114167477
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1330del (p.Ser443_Leu444insTer)
|
rs1114167520
|
|
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)
|
rs1114167491
|
|
NM_001370259.2(MEN1):c.1348C>T (p.Gln450Ter)
|
rs1114167509
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1_1350+11del
|
rs764570645
|
|
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)
|
rs2136092832
|
|
NM_001370259.2(MEN1):c.1380_1383del (p.Glu461fs)
|
|
|
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)
|
rs1114167531
|
|
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_001370259.2(MEN1):c.1390delinsCCT (p.Ala464fs)
|
rs1114167500
|
|
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)
|
rs1592633463
|
|
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)
|
rs1114167536
|
|
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
|
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1429del (p.Glu477fs)
|
|
|
NM_001370259.2(MEN1):c.1445del (p.Gly482fs)
|
|
|
NM_001370259.2(MEN1):c.1461dup (p.Lys488fs)
|
|
|
NM_001370259.2(MEN1):c.1464del (p.Lys488fs)
|
rs886039420
|
|
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
|
|
|
NM_001370259.2(MEN1):c.1504_1507dup (p.Gly503fs)
|
rs1114167476
|
|
NM_001370259.2(MEN1):c.1529_1530del (p.Ala510fs)
|
rs1114167522
|
|
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)
|
rs794728659
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)
|
rs794728630
|
|
NM_001370259.2(MEN1):c.1574del (p.Thr525fs)
|
rs1114167514
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs)
|
rs794728660
|
|
NM_001370259.2(MEN1):c.1609del (p.Val537fs)
|
rs2136083128
|
|
NM_001370259.2(MEN1):c.1614dup (p.Ala539fs)
|
|
|
NM_001370259.2(MEN1):c.1638_1639dup (p.Glu547fs)
|
rs1114167496
|
|
NM_001370259.2(MEN1):c.1643_1721delinsTG (p.Gly548fs)
|
rs1555163136
|
|
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)
|
rs794728631
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
NM_001370259.2(MEN1):c.1666G>T (p.Glu556Ter)
|
rs1114167501
|
|
NM_001370259.2(MEN1):c.1675A>T (p.Lys559Ter)
|
|
|
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)
|
rs1114167523
|
|
NM_001370259.2(MEN1):c.190_196delinsAAGCCCAGCCCC (p.Gln64fs)
|
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370259.2(MEN1):c.223del (p.Leu75fs)
|
rs1114167485
|
|
NM_001370259.2(MEN1):c.231C>A (p.Tyr77Ter)
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.234dup (p.Pro79fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.237del (p.Val80fs)
|
rs1114167486
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.265del (p.Leu89fs)
|
rs1114167490
|
|
NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter)
|
rs1114167527
|
|
NM_001370259.2(MEN1):c.273_276del (p.Arg92fs)
|
rs1114167516
|
|
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)
|
rs886039413
|
|
NM_001370259.2(MEN1):c.2T>C (p.Met1Thr)
|
|
|
NM_001370259.2(MEN1):c.2T>G (p.Met1Arg)
|
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)
|
rs794728647
|
|
NM_001370259.2(MEN1):c.32del (p.Phe11fs)
|
rs1592661082
|
|
NM_001370259.2(MEN1):c.336del (p.Ser113fs)
|
rs1114167478
|
|
NM_001370259.2(MEN1):c.340dup (p.Ser114fs)
|
rs886041213
|
|
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
|
|
|
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)
|
rs1060499992
|
|
NM_001370259.2(MEN1):c.350del (p.Leu117fs)
|
rs1555166387
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
NM_001370259.2(MEN1):c.378del (p.Ile125_Trp126insTer)
|
rs1114167492
|
|
NM_001370259.2(MEN1):c.386del (p.Leu129fs)
|
rs1565651223
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
NM_001370259.2(MEN1):c.417del (p.His139fs)
|
rs1114167540
|
|
NM_001370259.2(MEN1):c.41_42dup (p.Ser15fs)
|
rs1592660983
|
|
NM_001370259.2(MEN1):c.429_432delinsATT (p.Phe144fs)
|
rs1114167481
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.431_432delinsAA (p.Phe144Ter)
|
rs1114167511
|
|
NM_001370259.2(MEN1):c.435delinsTT (p.Ile147fs)
|
|
|
NM_001370259.2(MEN1):c.442del (p.Thr148fs)
|
rs1941975256
|
|
NM_001370259.2(MEN1):c.446-1G>A
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-2A>G
|
rs886042035
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)
|
rs794728648
|
|
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)
|
rs1565648656
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.526del (p.Ala176fs)
|
|
|
NM_001370259.2(MEN1):c.529_530del (p.Leu177fs)
|
rs1114167470
|
|
NM_001370259.2(MEN1):c.530del (p.Leu177fs)
|
rs1114167503
|
|
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)
|
rs794728650
|
|
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)
|
rs1555165756
|
|
NM_001370259.2(MEN1):c.577del (p.Thr193fs)
|
rs1592650986
|
|
NM_001370259.2(MEN1):c.625del (p.Gln209fs)
|
rs1114167538
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
NM_001370259.2(MEN1):c.654+1G>A
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+1G>T
|
rs794728622
|
|
NM_001370259.2(MEN1):c.655-1G>C
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.666C>A (p.Tyr222Ter)
|
rs1555165597
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)
|
rs1114167519
|
|
NM_001370259.2(MEN1):c.688dup (p.Cys230fs)
|
|
|
NM_001370259.2(MEN1):c.690T>A (p.Cys230Ter)
|
|
|
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)
|
rs1114167499
|
|
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys)
|
rs1114167488
|
|
NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs)
|
rs1114167534
|
|
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)
|
rs1592649069
|
|
NM_001370259.2(MEN1):c.727_734del (p.Ile243fs)
|
rs1114167532
|
|
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)
|
rs1057520733
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>C
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>T
|
rs794728652
|
|
NM_001370259.2(MEN1):c.784-2A>G
|
rs1114167472
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)
|
rs2136134076
|
|
NM_001370259.2(MEN1):c.824+1G>A
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)
|
rs1187634059
|
|
NM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTT
|
rs1592646831
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.89_90del (p.Glu30fs)
|
|
|
NM_001370259.2(MEN1):c.911del (p.Lys304fs)
|
rs1592646226
|
|
NM_001370259.2(MEN1):c.912+1G>A
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+1G>C
|
rs398124437
|
|
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter)
|
rs1565644366
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)
|
rs1555165128
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.961del (p.Tyr321fs)
|
|
|
NM_001370259.2(MEN1):c.967del (p.Tyr323fs)
|
rs1114167541
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp)
|
rs1259383083
|
|
NM_001407314.1(PALB2):c.49-1193del
|
rs1597091518
|
|
NM_002382.5(MAX):c.172-2A>G
|
|
|
NM_002382.5(MAX):c.173del (p.Ala58fs)
|
|
|
NM_002382.5(MAX):c.200C>A (p.Ala67Asp)
|
rs786202340
|
|
NM_002382.5(MAX):c.210T>G (p.Tyr70Ter)
|
|
|
NM_002382.5(MAX):c.228del (p.Asn78fs)
|
rs1555340550
|
|
NM_002382.5(MAX):c.22G>T (p.Glu8Ter)
|
rs752477890
|
|
NM_002382.5(MAX):c.233dup (p.Asn78fs)
|
rs587781931
|
|
NM_002382.5(MAX):c.244C>T (p.Gln82Ter)
|
|
|
NM_002382.5(MAX):c.271C>T (p.Gln91Ter)
|
|
|
NM_002382.5(MAX):c.295+1G>A
|
rs786203385
|
|
NM_002382.5(MAX):c.295+1G>T
|
rs786203385
|
|
NM_002382.5(MAX):c.320C>A (p.Ser107Ter)
|
rs876660073
|
|
NM_002382.5(MAX):c.64-2A>G
|
|
|
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)
|
rs387906651
|
|
NM_002382.5(MAX):c.98dup (p.Arg35fs)
|
rs1555343169
|
|
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer)
|
rs1580553607
|
|
NM_002439.5(MSH3):c.1040del (p.Leu347fs)
|
rs1580553624
|
|
NM_002439.5(MSH3):c.1060dup (p.Val354fs)
|
rs1580553669
|
|
NM_002439.5(MSH3):c.1087dup (p.Thr363fs)
|
rs1234762807
|
|
NM_002439.5(MSH3):c.1097_1100dup (p.Tyr367Ter)
|
|
|
NM_002439.5(MSH3):c.1116del (p.Glu373fs)
|
rs2112816043
|
|
NM_002439.5(MSH3):c.1126G>T (p.Glu376Ter)
|
|
|
NM_002439.5(MSH3):c.1130_1132delinsTT (p.Asn377fs)
|
|
|
NM_002439.5(MSH3):c.1131_1134del (p.Asn377fs)
|
|
|
NM_002439.5(MSH3):c.1148_1149del (p.Lys383fs)
|
|
|
NM_002439.5(MSH3):c.1148del (p.Lys383fs)
|
rs587776701
|
|
NM_002439.5(MSH3):c.1148dup (p.Asn385fs)
|
rs587776701
|
|
NM_002439.5(MSH3):c.1161del (p.Phe387fs)
|
|
|
NM_002439.5(MSH3):c.1180C>T (p.Gln394Ter)
|
|
|
NM_002439.5(MSH3):c.122del (p.Thr41fs)
|
|
|
NM_002439.5(MSH3):c.1235C>G (p.Ser412Ter)
|
|
|
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)
|
rs578113271
|
|
NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter)
|
rs1580556516
|
|
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs)
|
rs757194485
|
|
NM_002439.5(MSH3):c.1324del (p.Arg442fs)
|
|
|
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter)
|
rs963234468
|
|
NM_002439.5(MSH3):c.1376del (p.Asp459fs)
|
|
|
NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)
|
|
|
NM_002439.5(MSH3):c.139_178del (p.Val47fs)
|
|
|
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs)
|
rs778610412
|
|
NM_002439.5(MSH3):c.146del (p.Pro49fs)
|
rs1580538168
|
|
NM_002439.5(MSH3):c.147_154dup (p.Ala52fs)
|
|
|
NM_002439.5(MSH3):c.1484T>A (p.Leu495Ter)
|
|
|
NM_002439.5(MSH3):c.1489A>T (p.Lys497Ter)
|
|
|
NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs)
|
rs1743353294
|
|
NM_002439.5(MSH3):c.1524del (p.Lys508fs)
|
rs1580589397
|
|
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter)
|
rs1379605717
|
|
NM_002439.5(MSH3):c.1579C>T (p.Gln527Ter)
|
rs1204734473
|
|
NM_002439.5(MSH3):c.1625dup (p.Leu542fs)
|
rs775863622
|
|
NM_002439.5(MSH3):c.1644del (p.Gln549fs)
|
rs2112866857
|
|
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs)
|
rs1580597397
|
|
NM_002439.5(MSH3):c.1660_1661del (p.Met554fs)
|
|
|
NM_002439.5(MSH3):c.1679del (p.Leu560fs)
|
|
|
NM_002439.5(MSH3):c.1730dup (p.Lys578fs)
|
rs2112868948
|
|
NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter)
|
rs2112868963
|
|
NM_002439.5(MSH3):c.1738del (p.Trp579_Val580insTer)
|
|
|
NM_002439.5(MSH3):c.1749del (p.Leu584fs)
|
|
|
NM_002439.5(MSH3):c.1772del (p.Asn591fs)
|
rs1580027407
|
|
NM_002439.5(MSH3):c.1871del (p.Gly624fs)
|
|
|
NM_002439.5(MSH3):c.1900del (p.Ser634fs)
|
|
|
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs)
|
rs1580033751
|
|
NM_002439.5(MSH3):c.2018del (p.Ile672_Leu673insTer)
|
|
|
NM_002439.5(MSH3):c.2057T>G (p.Leu686Ter)
|
rs1744154635
|
|
NM_002439.5(MSH3):c.205_224del (p.Pro69fs)
|
|
|
NM_002439.5(MSH3):c.2061_2062del (p.Lys687fs)
|
|
|
NM_002439.5(MSH3):c.2082del (p.Val696fs)
|
|
|
NM_002439.5(MSH3):c.2103_2106del (p.Glu701fs)
|
|
|
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs)
|
rs1455445683
|
|
NM_002439.5(MSH3):c.211_218dup (p.Gln74fs)
|
|
|
NM_002439.5(MSH3):c.211_230dup (p.His78fs)
|
rs1749219575
|
|
NM_002439.5(MSH3):c.2141dup (p.Arg715fs)
|
rs751236312
|
|
NM_002439.5(MSH3):c.215del (p.Pro72fs)
|
|
|
NM_002439.5(MSH3):c.2207_2208del (p.Ile736fs)
|
rs2112885246
|
|
NM_002439.5(MSH3):c.220C>T (p.Gln74Ter)
|
|
|
NM_002439.5(MSH3):c.2216del (p.Asn739fs)
|
rs1580035033
|
|
NM_002439.5(MSH3):c.2227C>T (p.Gln743Ter)
|
rs1350652736
|
|
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs)
|
rs1416092389
|
|
NM_002439.5(MSH3):c.2282del (p.Val761fs)
|
|
|
NM_002439.5(MSH3):c.2319-1G>A
|
rs866260675
|
|
NM_002439.5(MSH3):c.2380C>T (p.Gln794Ter)
|
|
|
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter)
|
rs748016039
|
|
NM_002439.5(MSH3):c.242del (p.Thr81fs)
|
rs752795642
|
|
NM_002439.5(MSH3):c.2454T>A (p.Tyr818Ter)
|
rs1744531551
|
|
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter)
|
rs1749286503
|
|
NM_002439.5(MSH3):c.2582dup (p.Asn861fs)
|
|
|
NM_002439.5(MSH3):c.260_263del (p.Lys87fs)
|
rs756190979
|
|
NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer)
|
rs1561486632
|
|
NM_002439.5(MSH3):c.2670_2671del (p.Arg890fs)
|
rs1561486632
|
|
NM_002439.5(MSH3):c.2674dup (p.Met892fs)
|
rs2112054145
|
|
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)
|
rs777054839
|
|
NM_002439.5(MSH3):c.2749C>T (p.Gln917Ter)
|
rs1745048937
|
|
NM_002439.5(MSH3):c.2760del (p.Tyr921fs)
|
rs751326348
|
|
NM_002439.5(MSH3):c.2763T>A (p.Tyr921Ter)
|
|
|
NM_002439.5(MSH3):c.2791delinsTC (p.Ile931fs)
|
|
|
NM_002439.5(MSH3):c.2807del (p.Phe936fs)
|
rs1580066605
|
|
NM_002439.5(MSH3):c.2816_2828del (p.Met939fs)
|
|
|
NM_002439.5(MSH3):c.2838T>A (p.Tyr946Ter)
|
|
|
NM_002439.5(MSH3):c.2838_2839dup (p.Lys947fs)
|
|
|
NM_002439.5(MSH3):c.2871_2874del (p.Asp958fs)
|
rs1580091499
|
|
NM_002439.5(MSH3):c.2876_2877del (p.Thr959fs)
|
rs1580091512
|
|
NM_002439.5(MSH3):c.2877del (p.Ala960fs)
|
|
|
NM_002439.5(MSH3):c.2905C>T (p.Gln969Ter)
|
|
|
NM_002439.5(MSH3):c.2905_2906delinsT (p.Gln969fs)
|
|
|
NM_002439.5(MSH3):c.292A>T (p.Lys98Ter)
|
rs1749288232
|
|
NM_002439.5(MSH3):c.2967dup (p.Ala990fs)
|
rs2112106614
|
|
NM_002439.5(MSH3):c.296dup (p.Lys100fs)
|
rs1580540688
|
|
NM_002439.5(MSH3):c.2988T>G (p.Tyr996Ter)
|
|
|
NM_002439.5(MSH3):c.2990del (p.Phe997fs)
|
|
|
NM_002439.5(MSH3):c.302_306del (p.Val101fs)
|
rs1749288569
|
|
NM_002439.5(MSH3):c.3046G>T (p.Glu1016Ter)
|
|
|
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)
|
|
|
NM_002439.5(MSH3):c.307_310del (p.Lys103fs)
|
rs1259647122
|
|
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)
|
rs149350323
|
|
NM_002439.5(MSH3):c.322G>T (p.Glu108Ter)
|
|
|
NM_002439.5(MSH3):c.347_348del (p.Ser116fs)
|
|
|
NM_002439.5(MSH3):c.392C>G (p.Ser131Ter)
|
rs2112808726
|
|
NM_002439.5(MSH3):c.460_461del (p.Glu154fs)
|
rs1580546655
|
|
NM_002439.5(MSH3):c.513del (p.Asp171fs)
|
rs1749544783
|
|
NM_002439.5(MSH3):c.565C>T (p.Gln189Ter)
|
rs1580546793
|
|
NM_002439.5(MSH3):c.586del (p.Thr196fs)
|
rs771721952
|
|
NM_002439.5(MSH3):c.593_594del (p.Leu197_Phe198insTer)
|
|
|
NM_002439.5(MSH3):c.594del (p.Phe198fs)
|
rs2112812135
|
|
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
|
|
|
NM_002439.5(MSH3):c.640C>T (p.Gln214Ter)
|
rs952650934
|
|
NM_002439.5(MSH3):c.702dup (p.Gln235fs)
|
|
|
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter)
|
rs371356175
|
|
NM_002439.5(MSH3):c.739del (p.Val247fs)
|
|
|
NM_002439.5(MSH3):c.747T>A (p.Cys249Ter)
|
rs1272356369
|
|
NM_002439.5(MSH3):c.762T>A (p.Tyr254Ter)
|
rs1749675730
|
|
NM_002439.5(MSH3):c.781del (p.Glu261fs)
|
|
|
NM_002439.5(MSH3):c.790G>T (p.Glu264Ter)
|
rs766997264
|
|
NM_002439.5(MSH3):c.819T>G (p.Tyr273Ter)
|
|
|
NM_002439.5(MSH3):c.827del (p.His275_Leu276insTer)
|
rs2112813769
|
|
NM_002439.5(MSH3):c.873_876del (p.Val292fs)
|
rs763478027
|
|
NM_002439.5(MSH3):c.951del (p.Ile318fs)
|
|
|
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)
|
rs1810856747
|
|
NM_002485.5(NBN):c.1040C>G (p.Ser347Ter)
|
rs876660290
|
|
NM_002485.5(NBN):c.1048G>T (p.Glu350Ter)
|
rs1586065938
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1089del (p.Thr362_Tyr363insTer)
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1146del (p.Glu383fs)
|
rs1586059584
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1162A>T (p.Lys388Ter)
|
|
|
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)
|
rs2129721628
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
NM_002485.5(NBN):c.1225dup (p.Thr409fs)
|
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
NM_002485.5(NBN):c.1245_1248dup (p.Val417fs)
|
|
|
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)
|
rs1554559212
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1259del (p.Thr420fs)
|
rs1586058892
|
|
NM_002485.5(NBN):c.1273A>T (p.Arg425Ter)
|
|
|
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
|
|
|
NM_002485.5(NBN):c.1288C>T (p.Gln430Ter)
|
|
|
NM_002485.5(NBN):c.1332dup (p.Arg445Ter)
|
rs1586058444
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1387dup (p.Thr463fs)
|
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1424del (p.Met475fs)
|
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)
|
rs876658535
|
|
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
|
|
|
NM_002485.5(NBN):c.1546dup (p.Thr516fs)
|
|
|
NM_002485.5(NBN):c.1550dup (p.Asn517fs)
|
rs587782344
|
|
NM_002485.5(NBN):c.1554dup (p.Asp519fs)
|
rs1554558423
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1583del (p.Asp527_Leu528insTer)
|
rs1554558406
|
|
NM_002485.5(NBN):c.1612_1696del (p.Lys538fs)
|
rs1554558319
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640C>G (p.Ser547Ter)
|
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1651del (p.Arg551fs)
|
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.1689_1693del (p.Glu564fs)
|
|
|
NM_002485.5(NBN):c.1690del (p.Glu564fs)
|
|
|
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs)
|
rs1279184426
|
|
NM_002485.5(NBN):c.1718_1727dup (p.Asp577fs)
|
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1769del (p.Arg590fs)
|
rs1563525004
|
|
NM_002485.5(NBN):c.176_177insTA (p.Gln59fs)
|
|
|
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs)
|
rs1586052851
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)
|
rs1554558199
|
|
NM_002485.5(NBN):c.183del (p.Asp61fs)
|
rs587782147
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
NM_002485.5(NBN):c.1869dup (p.Arg624fs)
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)
|
rs1810267412
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)
|
rs2129659855
|
|
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.1940del (p.Ser647fs)
|
rs1554556587
|
|
NM_002485.5(NBN):c.1958_1959delinsC (p.Lys653fs)
|
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.1986_1999del (p.Val663fs)
|
rs587782653
|
|
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)
|
rs1554556485
|
|
NM_002485.5(NBN):c.2051del (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)
|
rs786203920
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.2126_2127insTA (p.Ala710fs)
|
|
|
NM_002485.5(NBN):c.2141del (p.Arg714fs)
|
|
|
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
|
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.228_231dup (p.Val78fs)
|
rs2129915522
|
|
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
|
|
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)
|
rs2129914287
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.320G>A (p.Arg107Lys)
|
rs1345924774
|
|
NM_002485.5(NBN):c.328del (p.Tyr110fs)
|
rs1554568029
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)
|
rs1060503463
|
|
NM_002485.5(NBN):c.393_400del (p.Ile132fs)
|
rs2129909528
|
|
NM_002485.5(NBN):c.409_430del (p.Gly137fs)
|
|
|
NM_002485.5(NBN):c.414del (p.Phe138fs)
|
|
|
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)
|
rs1812023357
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.468del (p.Val157fs)
|
rs1563578596
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.492dup (p.Leu165fs)
|
rs1586101609
|
|
NM_002485.5(NBN):c.523G>T (p.Glu175Ter)
|
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
NM_002485.5(NBN):c.552_568dup (p.Pro190fs)
|
rs1586101198
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
NM_002485.5(NBN):c.563dup (p.Gln189fs)
|
rs1586101226
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.672del (p.Thr226fs)
|
rs1586088503
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
|
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.827del (p.Thr276fs)
|
rs1586086621
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.844dup (p.Ile282fs)
|
rs1554563861
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.880_886del (p.Met294fs)
|
rs1586086338
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)
|
|
|
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs)
|
rs2150947238
|
|
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)
|
rs1290880136
|
|
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)
|
rs745671590
|
|
NM_002528.7(NTHL1):c.226del (p.Val76fs)
|
|
|
NM_002528.7(NTHL1):c.232del (p.Val78fs)
|
rs1314290585
|
|
NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter)
|
rs201671098
|
|
NM_002528.7(NTHL1):c.265dup (p.Val89fs)
|
rs2150945928
|
|
NM_002528.7(NTHL1):c.307dup (p.Asp103fs)
|
rs2150945390
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)
|
rs759955745
|
|
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)
|
rs371328106
|
|
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)
|
rs1596220478
|
|
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)
|
rs758667255
|
|
NM_002528.7(NTHL1):c.417_436dup (p.Leu146fs)
|
|
|
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
|
|
|
NM_002528.7(NTHL1):c.445_446del (p.Arg149fs)
|
|
|
NM_002528.7(NTHL1):c.445dup (p.Arg149fs)
|
rs1596220365
|
|
NM_002528.7(NTHL1):c.460del (p.Asp154fs)
|
rs1596220332
|
|
NM_002528.7(NTHL1):c.633dup (p.Lys212fs)
|
|
|
NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter)
|
rs1184801355
|
|
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)
|
rs587777627
|
|
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)
|
rs398122386
|
|
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)
|
rs281864790
|
|
NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs)
|
|
|
NM_002734.5(PRKAR1A):c.853C>T (p.Gln285Ter)
|
|
|
NM_002878.4(RAD51D):c.-82_82+91del
|
|
|
NM_002878.4(RAD51D):c.131_144+24del
|
rs1064795716
|
|
NM_002878.4(RAD51D):c.140_141insAA (p.Tyr47Ter)
|
rs587782736
|
|
NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter)
|
rs1555570285
|
|
NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter)
|
rs374357106
|
|
NM_002878.4(RAD51D):c.185_200del (p.Ser62fs)
|
rs786202179
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer)
|
rs1555570266
|
|
NM_002878.4(RAD51D):c.213_214del (p.Tyr72fs)
|
|
|
NM_002878.4(RAD51D):c.216C>A (p.Tyr72Ter)
|
rs148690585
|
|
NM_002878.4(RAD51D):c.223del (p.Glu74_Leu75insTer)
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.273del (p.Lys91fs)
|
|
|
NM_002878.4(RAD51D):c.277_280del (p.Leu93fs)
|
|
|
NM_002878.4(RAD51D):c.287dup (p.Leu97fs)
|
rs1597863362
|
|
NM_002878.4(RAD51D):c.293delinsCC (p.Tyr98fs)
|
|
|
NM_002878.4(RAD51D):c.2T>G (p.Met1Arg)
|
rs1064794619
|
|
NM_002878.4(RAD51D):c.2dup (p.Met1fs)
|
rs772306012
|
|
NM_002878.4(RAD51D):c.301G>T (p.Glu101Ter)
|
|
|
NM_002878.4(RAD51D):c.309del (p.Glu104fs)
|
|
|
NM_002878.4(RAD51D):c.315del (p.Ile105fs)
|
|
|
NM_002878.4(RAD51D):c.317_320del (p.Val106fs)
|
|
|
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.350_351del (p.Cys117fs)
|
rs2142434009
|
|
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.382del (p.Leu128fs)
|
|
|
NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter)
|
rs1597862732
|
|
NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)
|
|
|
NM_002878.4(RAD51D):c.433del (p.Arg145fs)
|
|
|
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)
|
rs1555568293
|
|
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)
|
rs1057521922
|
|
NM_002878.4(RAD51D):c.482dup (p.Glu162fs)
|
rs2142429748
|
|
NM_002878.4(RAD51D):c.483del (p.Glu162fs)
|
rs1597861892
|
|
NM_002878.4(RAD51D):c.506del (p.Val169fs)
|
rs2091604825
|
|
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)
|
|
|
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter)
|
rs587782695
|
|
NM_002878.4(RAD51D):c.564_568delinsA (p.Val189fs)
|
|
|
NM_002878.4(RAD51D):c.564del (p.Val189fs)
|
rs786202750
|
|
NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter)
|
rs2091602962
|
|
NM_002878.4(RAD51D):c.57dup (p.Leu20fs)
|
|
|
NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer)
|
rs587781527
|
|
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)
|
rs1567726305
|
|
NM_002878.4(RAD51D):c.693_694delinsTT (p.Arg232Ter)
|
|
|
NM_002878.4(RAD51D):c.693_726del (p.Arg232fs)
|
rs1597858243
|
|
NM_002878.4(RAD51D):c.694_715delinsTGAGAGCTGAAGACCCTGGCCT (p.Arg232_Arg239delinsTer)
|
|
|
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)
|
rs1555567197
|
|
NM_002878.4(RAD51D):c.748del (p.His250fs)
|
rs587780105
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs)
|
rs1064795045
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
NM_002878.4(RAD51D):c.85del (p.Val29fs)
|
rs1057517586
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)
|
rs1060503762
|
|
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)
|
rs1570958038
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.17_42dup (p.Ala15delinsProSerProTer)
|
rs1553179337
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
|
|
|
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)
|
rs1131691049
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
NM_003000.3(SDHB):c.21del (p.Ser8fs)
|
rs1553179359
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
|
rs786203800
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.330_333dup (p.Ala112fs)
|
rs794728948
|
|
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.379dup (p.Ile127fs)
|
rs1553177741
|
|
NM_003000.3(SDHB):c.384C>A (p.Tyr128Ter)
|
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.412del (p.Asp138fs)
|
rs2101522958
|
|
NM_003000.3(SDHB):c.424-1G>A
|
rs1131691060
|
|
NM_003000.3(SDHB):c.442del (p.Ala148fs)
|
rs876659491
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
NM_003000.3(SDHB):c.481del (p.Asp161fs)
|
rs794728949
|
|
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)
|
rs1553177677
|
|
NM_003000.3(SDHB):c.526G>T (p.Glu176Ter)
|
rs794728946
|
|
NM_003000.3(SDHB):c.541-1G>T
|
rs1570945961
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)
|
rs397516835
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.595_604delinsGG (p.Tyr199fs)
|
rs1131691059
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)
|
rs1131691050
|
|
NM_003000.3(SDHB):c.605dup (p.Asn202fs)
|
rs1131691053
|
|
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)
|
rs587782617
|
|
NM_003000.3(SDHB):c.639del (p.Met213fs)
|
rs1131691047
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.642_642+6del
|
rs876660368
|
|
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)
|
rs916516745
|
|
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
|
|
|
NM_003000.3(SDHB):c.680del (p.Thr227fs)
|
|
|
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)
|
rs762812025
|
|
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
|
|
|
NM_003000.3(SDHB):c.688dup (p.Arg230fs)
|
rs1570944890
|
|
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)
|
rs587782604
|
|
NM_003000.3(SDHB):c.68del (p.Leu23fs)
|
|
|
NM_003000.3(SDHB):c.713del (p.Phe238fs)
|
rs876660642
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003000.3(SDHB):c.717dup (p.Leu240fs)
|
rs1060503764
|
|
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)
|
rs794728950
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
NM_003000.3(SDHB):c.72+1G>A
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.727T>C (p.Cys243Arg)
|
|
|
NM_003000.3(SDHB):c.88del (p.Gln30fs)
|
rs747198089
|
|
NM_003001.5(SDHC):c.118del (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
|
|
|
NM_003001.5(SDHC):c.215G>T (p.Arg72Leu)
|
rs778582853
|
|
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
|
rs786205147
|
|
NM_003001.5(SDHC):c.233dup (p.Leu78fs)
|
rs1571869304
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
NM_003001.5(SDHC):c.250_253del (p.Phe85fs)
|
rs1571889991
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
NM_003001.5(SDHC):c.376dup (p.Tyr126fs)
|
rs876658301
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
NM_003001.5(SDHC):c.6del (p.Ala3fs)
|
rs786205146
|
|
NM_003001.5(SDHC):c.77+2dup
|
rs766486676
|
|
NM_003001.5(SDHC):c.97_98dup (p.Ala34fs)
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.124G>T (p.Glu42Ter)
|
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.135_160del (p.Val46fs)
|
rs1592778958
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)
|
rs587782210
|
|
NM_003002.4(SDHD):c.170-1G>T
|
rs1306475361
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)
|
rs387906358
|
|
NM_003002.4(SDHD):c.266_267dup (p.Ala90fs)
|
|
|
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro)
|
rs80338846
|
|
NM_003002.4(SDHD):c.286del (p.Ala96fs)
|
|
|
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)
|
rs786203067
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
NM_003002.4(SDHD):c.314+1G>A
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+1G>C
|
|
|
NM_003002.4(SDHD):c.314+1G>T
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+3A>C
|
rs1555187084
|
|
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)
|
rs1131691065
|
|
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)
|
rs1060503769
|
|
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
|
rs1060503770
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.340T>G (p.Tyr114Asp)
|
rs876659276
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
|
|
|
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)
|
rs1050032491
|
|
NM_003002.4(SDHD):c.352del (p.Asp118fs)
|
rs1131691064
|
|
NM_003002.4(SDHD):c.364A>T (p.Lys122Ter)
|
|
|
NM_003002.4(SDHD):c.388dup (p.Ala130fs)
|
rs1131691063
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.445_448dup (p.Cys150fs)
|
rs2135277783
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003002.4(SDHD):c.52+1G>A
|
rs1592777386
|
|
NM_003002.4(SDHD):c.52+1_52+2delinsAA
|
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003002.4(SDHD):c.57del (p.Leu20fs)
|
rs587776649
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003002.4(SDHD):c.69del (p.Pro24fs)
|
|
|
NM_003002.4(SDHD):c.90_96del (p.His30fs)
|
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter)
|
rs972341316
|
|
NM_003072.5(SMARCA4):c.1183del (p.Asp395fs)
|
|
|
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs)
|
rs2145938835
|
|
NM_003072.5(SMARCA4):c.1489dup (p.Ile497fs)
|
rs1600068013
|
|
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
|
|
|
NM_003072.5(SMARCA4):c.1645del (p.Arg549fs)
|
|
|
NM_003072.5(SMARCA4):c.1666C>T (p.Gln556Ter)
|
rs1555763642
|
|
NM_003072.5(SMARCA4):c.1717del (p.Ala573fs)
|
|
|
NM_003072.5(SMARCA4):c.1823del (p.Glu608fs)
|
|
|
NM_003072.5(SMARCA4):c.1892dup (p.Asp632fs)
|
|
|
NM_003072.5(SMARCA4):c.1911dup (p.Gln638fs)
|
|
|
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter)
|
rs1555771571
|
|
NM_003072.5(SMARCA4):c.2236_2239del (p.Ser746fs)
|
|
|
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs)
|
rs2146423140
|
|
NM_003072.5(SMARCA4):c.2854_2855delinsC (p.Glu952fs)
|
|
|
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter)
|
rs1064796254
|
|
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter)
|
rs769308802
|
|
NM_003072.5(SMARCA4):c.3000del (p.Met1000fs)
|
rs1600300837
|
|
NM_003072.5(SMARCA4):c.300del (p.Gly102fs)
|
rs1599941421
|
|
NM_003072.5(SMARCA4):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter)
|
rs2146473376
|
|
NM_003072.5(SMARCA4):c.3150C>A (p.Tyr1050Ter)
|
|
|
NM_003072.5(SMARCA4):c.3168+2T>C
|
rs1489795776
|
|
NM_003072.5(SMARCA4):c.3213del (p.Leu1073fs)
|
|
|
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter)
|
rs2146541571
|
|
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter)
|
rs1600335765
|
|
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)
|
rs797045982
|
|
NM_003072.5(SMARCA4):c.3496C>T (p.Gln1166Ter)
|
rs1600365455
|
|
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter)
|
rs1600389034
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
NM_003072.5(SMARCA4):c.4004del (p.Pro1335fs)
|
|
|
NM_003072.5(SMARCA4):c.4038G>A (p.Trp1346Ter)
|
|
|
NM_003072.5(SMARCA4):c.4126dup (p.Glu1376fs)
|
|
|
NM_003072.5(SMARCA4):c.4153del (p.Glu1385fs)
|
rs1600407324
|
|
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter)
|
rs758517117
|
|
NM_003072.5(SMARCA4):c.4477G>T (p.Glu1493Ter)
|
|
|
NM_003072.5(SMARCA4):c.4494C>G (p.Tyr1498Ter)
|
|
|
NM_003072.5(SMARCA4):c.4579A>T (p.Lys1527Ter)
|
|
|
NM_003072.5(SMARCA4):c.478del (p.Gln160fs)
|
|
|
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter)
|
rs2145775805
|
|
NM_003072.5(SMARCA4):c.747C>A (p.Tyr249Ter)
|
|
|
NM_003072.5(SMARCA4):c.788del (p.Pro263fs)
|
|
|
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
|
|
|
NM_003072.5(SMARCA4):c.826_827del (p.Pro276fs)
|
|
|
NM_003072.5(SMARCA4):c.885del (p.Thr296fs)
|
|
|
NM_003072.5(SMARCA4):c.947del (p.Pro316fs)
|
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter)
|
rs1928400256
|
|
NM_003073.5(SMARCB1):c.178_179del (p.Arg60fs)
|
rs1555875915
|
|
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)
|
rs74315513
|
|
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)
|
rs2145978723
|
|
NM_003079.5(SMARCE1):c.248_249del (p.Gln83fs)
|
|
|
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter)
|
rs2143997316
|
|
NM_003079.5(SMARCE1):c.411del (p.Ala138fs)
|
|
|
NM_003079.5(SMARCE1):c.417C>G (p.Tyr139Ter)
|
rs1555605752
|
|
NM_003079.5(SMARCE1):c.439del (p.Ser147fs)
|
|
|
NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
|
|
|
NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
|
|
|
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter)
|
rs397509405
|
|
NM_003079.5(SMARCE1):c.816+1G>T
|
|
|
NM_003924.4(PHOX2B):c.13G>T (p.Glu5Ter)
|
rs2153113084
|
|
NM_003924.4(PHOX2B):c.153dup (p.Gly52fs)
|
|
|
NM_003924.4(PHOX2B):c.234C>A (p.Tyr78Ter)
|
|
|
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
|
rs73810366
|
|
NM_003924.4(PHOX2B):c.242-1G>A
|
|
|
NM_003924.4(PHOX2B):c.249C>A (p.Tyr83Ter)
|
|
|
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)
|
rs1733947320
|
|
NM_003924.4(PHOX2B):c.391del (p.Leu131fs)
|
|
|
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
|
rs1733941453
|
|
NM_003924.4(PHOX2B):c.428A>G (p.Gln143Arg)
|
|
|
NM_003924.4(PHOX2B):c.428dup (p.Val144fs)
|
|
|
NM_003924.4(PHOX2B):c.466C>T (p.Gln156Ter)
|
|
|
NM_003924.4(PHOX2B):c.547G>T (p.Glu183Ter)
|
|
|
NM_003924.4(PHOX2B):c.577del (p.Asp193fs)
|
|
|
NM_003924.4(PHOX2B):c.652_683del (p.Pro218fs)
|
|
|
NM_003924.4(PHOX2B):c.676del (p.Ala226fs)
|
|
|
NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)
|
rs2153112779
|
|
NM_003924.4(PHOX2B):c.702_714dup (p.Gly239fs)
|
|
|
NM_003924.4(PHOX2B):c.722_759dup (p.Ala254fs)
|
|
|
NM_003924.4(PHOX2B):c.726_743dup (p.Ala255_Ala260dup)
|
rs1733881278
|
|
NM_003924.4(PHOX2B):c.726_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.729_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.732_746dup (p.Ala260_Gly261insAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.735_746dup (p.Ala260_Gly261insAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.735_767dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.738_767dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)
|
rs757020181
|
|
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.741_761dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.747_773dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)
|
rs779557320
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003924.4(PHOX2B):c.776_777insGGCGGCCGCGGCAGCGGCGGC (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs)
|
|
|
NM_003924.4(PHOX2B):c.931_935del (p.Ser311fs)
|
|
|
NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp)
|
rs1553897738
|
|
NM_003977.4(AIP):c.219G>A (p.Trp73Ter)
|
|
|
NM_003977.4(AIP):c.361_362del (p.Cys121fs)
|
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
NM_003977.4(AIP):c.606C>G (p.Tyr202Ter)
|
|
|
NM_003977.4(AIP):c.643A>T (p.Lys215Ter)
|
rs1591046113
|
|
NM_003977.4(AIP):c.783C>G (p.Tyr261Ter)
|
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
NM_004064.5(CDKN1B):c.128delinsCA (p.Arg43fs)
|
|
|
NM_004064.5(CDKN1B):c.169C>T (p.Gln57Ter)
|
|
|
NM_004064.5(CDKN1B):c.178dup (p.Trp60fs)
|
rs1592280877
|
|
NM_004064.5(CDKN1B):c.179G>A (p.Trp60Ter)
|
|
|
NM_004064.5(CDKN1B):c.180G>A (p.Trp60Ter)
|
|
|
NM_004064.5(CDKN1B):c.201_202del (p.His67fs)
|
|
|
NM_004064.5(CDKN1B):c.215dup (p.Lys73fs)
|
rs1555085549
|
|
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
|
|
|
NM_004064.5(CDKN1B):c.232del (p.Glu78fs)
|
|
|
NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs)
|
rs1946493725
|
|
NM_004064.5(CDKN1B):c.285dup (p.Lys96fs)
|
rs1555085575
|
|
NM_004064.5(CDKN1B):c.310C>T (p.Gln104Ter)
|
rs1592281087
|
|
NM_004064.5(CDKN1B):c.319C>T (p.Gln107Ter)
|
|
|
NM_004064.5(CDKN1B):c.320del (p.Gln107fs)
|
rs755301027
|
|
NM_004064.5(CDKN1B):c.326del (p.Val109fs)
|
|
|
NM_004064.5(CDKN1B):c.369dup (p.Asn124Ter)
|
|
|
NM_004064.5(CDKN1B):c.374_375del (p.Asn124_Ser125insTer)
|
rs786201011
|
|
NM_004064.5(CDKN1B):c.388_392del (p.Leu130fs)
|
rs2136356377
|
|
NM_004064.5(CDKN1B):c.389del (p.Leu130fs)
|
|
|
NM_004064.5(CDKN1B):c.410del (p.Pro137fs)
|
rs1328655695
|
|
NM_004064.5(CDKN1B):c.421C>T (p.Gln141Ter)
|
rs1946498768
|
|
NM_004064.5(CDKN1B):c.460C>T (p.Arg154Ter)
|
rs1292160956
|
|
NM_004064.5(CDKN1B):c.487C>T (p.Gln163Ter)
|
rs1202861028
|
|
NM_004064.5(CDKN1B):c.511G>T (p.Glu171Ter)
|
|
|
NM_004064.5(CDKN1B):c.58C>T (p.Gln20Ter)
|
rs1946487230
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1054del (p.Arg352fs)
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
NM_004168.4(SDHA):c.1222_1225dup (p.Asn409delinsIleTer)
|
|
|
NM_004168.4(SDHA):c.1257del (p.Gln420fs)
|
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1293del (p.Ile431fs)
|
|
|
NM_004168.4(SDHA):c.1344dup (p.Ala449fs)
|
|
|
NM_004168.4(SDHA):c.1357_1363del (p.Gly453fs)
|
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1589del (p.Ser530fs)
|
|
|
NM_004168.4(SDHA):c.1629T>A (p.Tyr543Ter)
|
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1694_1695insTC (p.Leu566fs)
|
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter)
|
|
|
NM_004168.4(SDHA):c.1785delinsCTTCTGGCGCGCATGCCAGG (p.Glu595fs)
|
|
|
NM_004168.4(SDHA):c.186del (p.Phe62fs)
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.424_443del (p.Met142fs)
|
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
NM_004168.4(SDHA):c.484A>T (p.Arg162Ter)
|
rs1579385526
|
|
NM_004168.4(SDHA):c.526C>T (p.Gln176Ter)
|
rs2126549741
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.558_567del (p.His187fs)
|
rs1553997826
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.66G>A (p.Trp22Ter)
|
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.691dup (p.Cys231fs)
|
rs1579391225
|
|
NM_004168.4(SDHA):c.712_713del (p.Cys238fs)
|
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter)
|
|
|
NM_004168.4(SDHA):c.868del (p.Asp289_Leu290insTer)
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter)
|
rs1554891075
|
|
NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs)
|
rs1131691184
|
|
NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)
|
rs1554891089
|
|
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs)
|
rs2133592586
|
|
NM_004329.3(BMPR1A):c.1095del (p.Ser365fs)
|
rs1589291774
|
|
NM_004329.3(BMPR1A):c.1101del (p.Asn367fs)
|
rs1554891102
|
|
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
|
|
|
NM_004329.3(BMPR1A):c.1131_1132delinsACCTGGAG (p.Cys377_Ile378delinsTer)
|
|
|
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)
|
rs1131691181
|
|
NM_004329.3(BMPR1A):c.1245_1246dup (p.Ser416fs)
|
rs1554891331
|
|
NM_004329.3(BMPR1A):c.1267C>T (p.Gln423Ter)
|
|
|
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs)
|
rs2133395056
|
|
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
|
|
|
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
|
|
|
NM_004329.3(BMPR1A):c.1346_1359delinsAGAATACCCT (p.Ile449fs)
|
|
|
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
|
|
|
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter)
|
rs1554891570
|
|
NM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter)
|
rs149787558
|
|
NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter)
|
rs1131691175
|
|
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)
|
rs786201040
|
|
NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter)
|
rs878854664
|
|
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter)
|
rs1392086533
|
|
NM_004329.3(BMPR1A):c.160del (p.Asp54fs)
|
rs1131691183
|
|
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)
|
rs1564714834
|
|
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)
|
rs786201038
|
|
NM_004329.3(BMPR1A):c.199_203dup (p.Asp69fs)
|
rs1554888134
|
|
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)
|
rs786203157
|
|
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)
|
rs786203157
|
|
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)
|
rs786201501
|
|
NM_004329.3(BMPR1A):c.246C>A (p.Cys82Ter)
|
rs759647230
|
|
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
|
|
|
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)
|
rs730881431
|
|
NM_004329.3(BMPR1A):c.271C>T (p.Gln91Ter)
|
rs878854667
|
|
NM_004329.3(BMPR1A):c.275dup (p.Glu93fs)
|
|
|
NM_004329.3(BMPR1A):c.300T>A (p.Cys100Ter)
|
|
|
NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter)
|
rs876658891
|
|
NM_004329.3(BMPR1A):c.325del (p.Gln109fs)
|
rs1554888329
|
|
NM_004329.3(BMPR1A):c.360del (p.Thr121fs)
|
rs1064794031
|
|
NM_004329.3(BMPR1A):c.364del (p.Thr121_Ile122insTer)
|
|
|
NM_004329.3(BMPR1A):c.367del (p.Glu123fs)
|
rs1131691173
|
|
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)
|
rs199476087
|
|
NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)
|
rs587782388
|
|
NM_004329.3(BMPR1A):c.373T>G (p.Cys125Gly)
|
rs1131691180
|
|
NM_004329.3(BMPR1A):c.388T>C (p.Cys130Arg)
|
rs1131691168
|
|
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter)
|
rs2133454296
|
|
NM_004329.3(BMPR1A):c.3G>A (p.Met1Ile)
|
rs869312758
|
|
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)
|
rs876660442
|
|
NM_004329.3(BMPR1A):c.419_420del (p.Pro140fs)
|
|
|
NM_004329.3(BMPR1A):c.420del (p.Val141fs)
|
rs786201715
|
|
NM_004329.3(BMPR1A):c.430+1G>A
|
rs1843283551
|
|
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs)
|
rs1131691179
|
|
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)
|
rs1554886816
|
|
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)
|
rs1131691178
|
|
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter)
|
rs1131691176
|
|
NM_004329.3(BMPR1A):c.481del (p.Ala161fs)
|
rs1131691172
|
|
NM_004329.3(BMPR1A):c.534_535insAAAT (p.Tyr179fs)
|
|
|
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter)
|
rs1131691185
|
|
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)
|
rs1564721929
|
|
NM_004329.3(BMPR1A):c.586_592del (p.Asp196fs)
|
|
|
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)
|
rs1554886821
|
|
NM_004329.3(BMPR1A):c.674del (p.Leu225fs)
|
rs1564722014
|
|
NM_004329.3(BMPR1A):c.676-1G>A
|
rs1554890734
|
|
NM_004329.3(BMPR1A):c.68-1G>A
|
rs1131691174
|
|
NM_004329.3(BMPR1A):c.68-1G>C
|
rs1131691174
|
|
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)
|
rs587782682
|
|
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)
|
rs1554890743
|
|
NM_004329.3(BMPR1A):c.699_700del (p.Gln233fs)
|
|
|
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)
|
rs759363072
|
|
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter)
|
rs1131691182
|
|
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
|
|
|
NM_004329.3(BMPR1A):c.793dup (p.Thr265fs)
|
|
|
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)
|
rs587782400
|
|
NM_004329.3(BMPR1A):c.824_825del (p.Thr275fs)
|
rs1589290779
|
|
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs)
|
rs587781928
|
|
NM_004329.3(BMPR1A):c.874dup (p.Ile292fs)
|
rs1554891016
|
|
NM_004329.3(BMPR1A):c.880del (p.Ala294fs)
|
|
|
NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer)
|
rs876659988
|
|
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
|
|
|
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter)
|
rs1589291548
|
|
NM_004329.3(BMPR1A):c.934del (p.His312fs)
|
rs1060503408
|
|
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs)
|
rs1060503409
|
|
NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer)
|
rs1554891044
|
|
NM_004329.3(BMPR1A):c.964A>T (p.Lys322Ter)
|
rs1131691167
|
|
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)
|
rs1554891056
|
|
NM_004329.3(BMPR1A):c.989_992dup (p.Leu332fs)
|
|
|
NM_004360.5(CDH1):c.1003dup (p.Arg335fs)
|
|
|
NM_004360.5(CDH1):c.1008+1G>A
|
rs1960844889
|
|
NM_004360.5(CDH1):c.1008G>A (p.Glu336=)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)
|
rs876661091
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1064dup (p.Leu355fs)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1085del (p.Val362fs)
|
rs1555515739
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
NM_004360.5(CDH1):c.1131del (p.Thr378fs)
|
rs1131690812
|
|
NM_004360.5(CDH1):c.1132_1133del (p.Thr378fs)
|
|
|
NM_004360.5(CDH1):c.1137+1del
|
rs876659446
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
|
rs1962423346
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1214_1221del (p.Asn405fs)
|
|
|
NM_004360.5(CDH1):c.1237_1238dup (p.Ile415fs)
|
rs1131690811
|
|
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)
|
rs876658865
|
|
NM_004360.5(CDH1):c.1261G>T (p.Gly421Ter)
|
|
|
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)
|
rs1555509636
|
|
NM_004360.5(CDH1):c.1309A>T (p.Lys437Ter)
|
|
|
NM_004360.5(CDH1):c.1341del (p.Lys447fs)
|
rs1555516089
|
|
NM_004360.5(CDH1):c.1373del (p.Asn458fs)
|
rs1960960044
|
|
NM_004360.5(CDH1):c.1386dup (p.Glu463Ter)
|
|
|
NM_004360.5(CDH1):c.1390del (p.Val464fs)
|
rs1555516111
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
NM_004360.5(CDH1):c.1401dup (p.Thr468fs)
|
|
|
NM_004360.5(CDH1):c.1408del (p.Thr470fs)
|
rs1131690821
|
|
NM_004360.5(CDH1):c.140_155delinsCGA (p.Glu47fs)
|
|
|
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
|
|
|
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs)
|
rs1567508939
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)
|
rs778871891
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.1500_1501delinsA (p.Val501fs)
|
|
|
NM_004360.5(CDH1):c.1505del (p.Gly502fs)
|
rs869312765
|
|
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)
|
rs1131690810
|
|
NM_004360.5(CDH1):c.1562del (p.Ile521fs)
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+2_1565+3insTT
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter)
|
rs1596960298
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)
|
rs1596960368
|
|
NM_004360.5(CDH1):c.1600G>T (p.Glu534Ter)
|
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
NM_004360.5(CDH1):c.163+1G>A
|
rs1962463097
|
|
NM_004360.5(CDH1):c.1636del (p.Ala546fs)
|
rs1555516556
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
|
rs1555516567
|
|
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
|
|
|
NM_004360.5(CDH1):c.1711+1G>A
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+2_1711+7del
|
rs786203089
|
|
NM_004360.5(CDH1):c.1711+5G>A
|
rs1131690818
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
NM_004360.5(CDH1):c.1746dup (p.Leu583fs)
|
rs1131690817
|
|
NM_004360.5(CDH1):c.1779dup (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.182_183delinsGTG (p.Thr61fs)
|
|
|
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
|
|
|
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)
|
rs587783047
|
|
NM_004360.5(CDH1):c.1893dup (p.His632fs)
|
rs1596963827
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.2029dup (p.Gln677fs)
|
rs1555517100
|
|
NM_004360.5(CDH1):c.202del (p.Tyr68fs)
|
rs786202151
|
|
NM_004360.5(CDH1):c.2056_2059del (p.Cys686fs)
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2071dup (p.Ala691fs)
|
|
|
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter)
|
rs149127230
|
|
NM_004360.5(CDH1):c.2155dup (p.Ala719fs)
|
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.217dup (p.Thr73fs)
|
rs1597884637
|
|
NM_004360.5(CDH1):c.2186_2196del (p.Leu729fs)
|
rs1596970676
|
|
NM_004360.5(CDH1):c.2188_2189delinsCTCCTCC (p.Phe730fs)
|
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.220del (p.Arg74fs)
|
|
|
NM_004360.5(CDH1):c.2262C>A (p.Tyr754Ter)
|
rs1596970988
|
|
NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter)
|
rs876658944
|
|
NM_004360.5(CDH1):c.2276del (p.Gly759fs)
|
rs1555517680
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
NM_004360.5(CDH1):c.2306T>A (p.Leu769Ter)
|
|
|
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
|
rs1131690813
|
|
NM_004360.5(CDH1):c.2324del (p.Gly775fs)
|
rs1060501248
|
|
NM_004360.5(CDH1):c.2329_2341del (p.Asp777fs)
|
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.2440-2A>G
|
rs1555518210
|
|
NM_004360.5(CDH1):c.261del (p.Arg87fs)
|
rs1555514429
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.303C>A (p.Tyr101Ter)
|
|
|
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)
|
rs1555514464
|
|
NM_004360.5(CDH1):c.315del (p.Thr106fs)
|
rs1064795703
|
|
NM_004360.5(CDH1):c.322del (p.Arg108fs)
|
|
|
NM_004360.5(CDH1):c.376_382dup (p.His128fs)
|
rs1567501500
|
|
NM_004360.5(CDH1):c.377del (p.Pro126fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.377dup (p.Pro127fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.456del (p.Lys153fs)
|
|
|
NM_004360.5(CDH1):c.463_464del (p.Asp155fs)
|
|
|
NM_004360.5(CDH1):c.468G>A (p.Trp156Ter)
|
rs876661107
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)
|
rs1555515217
|
|
NM_004360.5(CDH1):c.49-2A>C
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
NM_004360.5(CDH1):c.529C>T (p.Gln177Ter)
|
rs1555515232
|
|
NM_004360.5(CDH1):c.531+1G>A
|
rs1131690808
|
|
NM_004360.5(CDH1):c.552dup (p.Glu185fs)
|
rs1597890963
|
|
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter)
|
rs761753486
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
NM_004360.5(CDH1):c.594_595insT (p.Thr199fs)
|
rs1555515264
|
|
NM_004360.5(CDH1):c.602del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)
|
rs786203576
|
|
NM_004360.5(CDH1):c.617_623dup (p.Glu208delinsAspTyrTer)
|
|
|
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
|
|
|
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter)
|
rs1962456814
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1_687+2del
|
rs1555515296
|
|
NM_004360.5(CDH1):c.692del (p.Phe231fs)
|
|
|
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)
|
rs121964876
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.757_832+3del
|
|
|
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter)
|
rs786201058
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
NM_004360.5(CDH1):c.800_810del (p.Phe267fs)
|
rs1960785108
|
|
NM_004360.5(CDH1):c.807del (p.Ser270fs)
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
NM_004360.5(CDH1):c.833-1G>A
|
rs1597893910
|
|
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
|
|
|
NM_004360.5(CDH1):c.883dup (p.Thr295fs)
|
|
|
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
|
|
|
NM_004360.5(CDH1):c.906C>A (p.Tyr302Ter)
|
|
|
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
NM_004360.5(CDH1):c.972dup (p.Val325fs)
|
rs1597894239
|
|
NM_004655.4(AXIN2):c.1159del (p.Ser387fs)
|
|
|
NM_004655.4(AXIN2):c.1195del (p.Arg399fs)
|
rs2144475594
|
|
NM_004655.4(AXIN2):c.1274dup (p.Leu426fs)
|
|
|
NM_004655.4(AXIN2):c.1306C>T (p.Gln436Ter)
|
|
|
NM_004655.4(AXIN2):c.1466_1478del (p.Pro489fs)
|
|
|
NM_004655.4(AXIN2):c.1565dup (p.His522fs)
|
|
|
NM_004655.4(AXIN2):c.1637del (p.Gly546fs)
|
rs1555577625
|
|
NM_004655.4(AXIN2):c.1642G>T (p.Glu548Ter)
|
rs367624903
|
|
NM_004655.4(AXIN2):c.1705C>T (p.Gln569Ter)
|
rs2144455707
|
|
NM_004655.4(AXIN2):c.1722dup (p.Gly575fs)
|
|
|
NM_004655.4(AXIN2):c.1724dup (p.Ser576fs)
|
|
|
NM_004655.4(AXIN2):c.1822del (p.Leu608fs)
|
rs1567754914
|
|
NM_004655.4(AXIN2):c.1831G>T (p.Glu611Ter)
|
rs2043933208
|
|
NM_004655.4(AXIN2):c.1838_1848dup (p.Gln617fs)
|
|
|
NM_004655.4(AXIN2):c.1873G>T (p.Glu625Ter)
|
|
|
NM_004655.4(AXIN2):c.1879G>T (p.Glu627Ter)
|
|
|
NM_004655.4(AXIN2):c.1912C>T (p.Gln638Ter)
|
rs1598097196
|
|
NM_004655.4(AXIN2):c.1925del (p.Lys642fs)
|
|
|
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter)
|
rs121908568
|
|
NM_004655.4(AXIN2):c.1993_1994delinsT (p.Gly665fs)
|
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.1994dup (p.Asn666fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2018_2025dup (p.Ala676fs)
|
|
|
NM_004655.4(AXIN2):c.2023del (p.Arg675fs)
|
|
|
NM_004655.4(AXIN2):c.2023dup (p.Arg675fs)
|
rs1555577121
|
|
NM_004655.4(AXIN2):c.2052del (p.Met685fs)
|
rs2144440894
|
|
NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter)
|
rs2043913790
|
|
NM_004655.4(AXIN2):c.2202del (p.Thr735fs)
|
|
|
NM_004655.4(AXIN2):c.254del (p.Leu85fs)
|
|
|
NM_004655.4(AXIN2):c.323dup (p.Leu108fs)
|
|
|
NM_004655.4(AXIN2):c.332G>A (p.Trp111Ter)
|
|
|
NM_004655.4(AXIN2):c.355C>T (p.Gln119Ter)
|
rs1598119841
|
|
NM_004655.4(AXIN2):c.479del (p.Gly160fs)
|
|
|
NM_004655.4(AXIN2):c.490C>T (p.Gln164Ter)
|
|
|
NM_004655.4(AXIN2):c.611del (p.Gly204fs)
|
|
|
NM_004655.4(AXIN2):c.702G>A (p.Trp234Ter)
|
|
|
NM_004655.4(AXIN2):c.763_764del (p.Leu255fs)
|
rs1598118962
|
|
NM_004655.4(AXIN2):c.801dup (p.Asp268Ter)
|
rs2144581824
|
|
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter)
|
rs869312757
|
|
NM_004656.4(BAP1):c.1088del (p.Asn363fs)
|
|
|
NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter)
|
rs1553645164
|
|
NM_004656.4(BAP1):c.1169dup (p.Pro391fs)
|
rs1578222261
|
|
NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter)
|
rs1553645146
|
|
NM_004656.4(BAP1):c.1177C>T (p.Gln393Ter)
|
|
|
NM_004656.4(BAP1):c.1182C>G (p.Tyr394Ter)
|
rs1364087255
|
|
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer)
|
rs886058705
|
|
NM_004656.4(BAP1):c.1203dup (p.Glu402Ter)
|
rs1553645126
|
|
NM_004656.4(BAP1):c.122+1G>A
|
rs1578230334
|
|
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter)
|
rs1559587104
|
|
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs)
|
rs1351986946
|
|
NM_004656.4(BAP1):c.1474_1475del (p.Ser492fs)
|
rs1559586782
|
|
NM_004656.4(BAP1):c.1483dup (p.Thr495fs)
|
|
|
NM_004656.4(BAP1):c.14G>A (p.Trp5Ter)
|
|
|
NM_004656.4(BAP1):c.1513_1514del (p.Ser505fs)
|
rs1578220681
|
|
NM_004656.4(BAP1):c.1523del (p.Arg508fs)
|
|
|
NM_004656.4(BAP1):c.1526C>A (p.Ser509Ter)
|
|
|
NM_004656.4(BAP1):c.1587_1594delinsCACACCTCCCACA (p.Lys529fs)
|
rs1578220452
|
|
NM_004656.4(BAP1):c.1596del (p.Phe532fs)
|
|
|
NM_004656.4(BAP1):c.1695dup (p.Glu566Ter)
|
rs1553644815
|
|
NM_004656.4(BAP1):c.169del (p.Arg57fs)
|
|
|
NM_004656.4(BAP1):c.1709_1710insC (p.Ser571fs)
|
|
|
NM_004656.4(BAP1):c.1717del (p.Leu573fs)
|
rs869025212
|
|
NM_004656.4(BAP1):c.1729+1G>A
|
rs1578220161
|
|
NM_004656.4(BAP1):c.1766_1767insTCAAT (p.Gly591fs)
|
|
|
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter)
|
rs1064795638
|
|
NM_004656.4(BAP1):c.1786del (p.Ser596fs)
|
rs2153226489
|
|
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)
|
rs1253151209
|
|
NM_004656.4(BAP1):c.1801A>T (p.Lys601Ter)
|
|
|
NM_004656.4(BAP1):c.1835del (p.Lys612fs)
|
rs1060503743
|
|
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
|
|
|
NM_004656.4(BAP1):c.1916_1917del (p.Val639fs)
|
rs2153226324
|
|
NM_004656.4(BAP1):c.1918G>T (p.Glu640Ter)
|
|
|
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)
|
rs1578219056
|
|
NM_004656.4(BAP1):c.1993C>T (p.Gln665Ter)
|
rs1578218761
|
|
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)
|
rs387906848
|
|
NM_004656.4(BAP1):c.258_262del (p.Ile87fs)
|
|
|
NM_004656.4(BAP1):c.261dup (p.Pro88fs)
|
rs1578227605
|
|
NM_004656.4(BAP1):c.293del (p.Ser98fs)
|
|
|
NM_004656.4(BAP1):c.2T>C (p.Met1Thr)
|
rs1467015377
|
|
NM_004656.4(BAP1):c.320del (p.Asp107fs)
|
rs1578227520
|
|
NM_004656.4(BAP1):c.334_335del (p.Leu112fs)
|
|
|
NM_004656.4(BAP1):c.359dup (p.Ser123fs)
|
|
|
NM_004656.4(BAP1):c.406G>T (p.Glu136Ter)
|
|
|
NM_004656.4(BAP1):c.422del (p.His141fs)
|
|
|
NM_004656.4(BAP1):c.436dup (p.Arg146fs)
|
rs2153227933
|
|
NM_004656.4(BAP1):c.458_459del (p.Pro153fs)
|
rs1559590613
|
|
NM_004656.4(BAP1):c.458del (p.Pro153fs)
|
|
|
NM_004656.4(BAP1):c.50_53del (p.Leu17fs)
|
|
|
NM_004656.4(BAP1):c.510dup (p.Val171fs)
|
rs1553645809
|
|
NM_004656.4(BAP1):c.517dup (p.Tyr173fs)
|
rs1553645806
|
|
NM_004656.4(BAP1):c.519_520insA (p.Val174fs)
|
rs1578226444
|
|
NM_004656.4(BAP1):c.542_543del (p.Leu180_Phe181insTer)
|
|
|
NM_004656.4(BAP1):c.587G>A (p.Trp196Ter)
|
rs1553645725
|
|
NM_004656.4(BAP1):c.588G>A (p.Trp196Ter)
|
|
|
NM_004656.4(BAP1):c.58_59insTG (p.Glu20fs)
|
|
|
NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)
|
rs1553645720
|
|
NM_004656.4(BAP1):c.592dup (p.Glu198fs)
|
rs1205668341
|
|
NM_004656.4(BAP1):c.619del (p.Arg207fs)
|
rs1578225864
|
|
NM_004656.4(BAP1):c.625dup (p.Val209fs)
|
|
|
NM_004656.4(BAP1):c.639dup (p.Ile214fs)
|
rs1578225793
|
|
NM_004656.4(BAP1):c.644del (p.Gly215fs)
|
rs1060503727
|
|
NM_004656.4(BAP1):c.65del (p.Phe22fs)
|
rs1060503735
|
|
NM_004656.4(BAP1):c.754_758dup (p.Gln253fs)
|
|
|
NM_004656.4(BAP1):c.757C>T (p.Gln253Ter)
|
rs776240891
|
|
NM_004656.4(BAP1):c.771_772insTACTA (p.Ala258delinsTyrTer)
|
rs1553645586
|
|
NM_004656.4(BAP1):c.778C>T (p.Gln260Ter)
|
rs864622592
|
|
NM_004656.4(BAP1):c.799C>T (p.Gln267Ter)
|
rs387906849
|
|
NM_004656.4(BAP1):c.79del (p.Val27fs)
|
rs397509413
|
|
NM_004656.4(BAP1):c.79dup (p.Val27fs)
|
rs397509413
|
|
NM_004656.4(BAP1):c.831dup (p.Glu278fs)
|
rs1553645497
|
|
NM_004656.4(BAP1):c.837dup (p.Gln280fs)
|
rs1553645492
|
|
NM_004656.4(BAP1):c.88del (p.Glu30fs)
|
|
|
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.1242dup (p.Asp415fs)
|
rs786201200
|
|
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)
|
rs587780124
|
|
NM_005431.2(XRCC2):c.190del (p.Arg64fs)
|
|
|
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)
|
rs763401560
|
|
NM_005431.2(XRCC2):c.96_99del (p.Phe32fs)
|
rs1554411684
|
|
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)
|
rs371077728
|
|
NM_005591.4(MRE11):c.1112_1127del (p.Gly371fs)
|
rs1169667763
|
|
NM_005591.4(MRE11):c.1124del (p.Pro375fs)
|
|
|
NM_005591.4(MRE11):c.1135dup (p.Leu379fs)
|
rs786202764
|
|
NM_005591.4(MRE11):c.1143del (p.Phe381fs)
|
rs863224508
|
|
NM_005591.4(MRE11):c.1196del (p.Phe399fs)
|
|
|
NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter)
|
rs1180352898
|
|
NM_005591.4(MRE11):c.1222dup (p.Thr408fs)
|
rs774440500
|
|
NM_005591.4(MRE11):c.1252dup (p.Ile418fs)
|
rs1555009931
|
|
NM_005591.4(MRE11):c.1336del (p.Leu446fs)
|
rs786203682
|
|
NM_005591.4(MRE11):c.1378G>T (p.Glu460Ter)
|
|
|
NM_005591.4(MRE11):c.1441dup (p.Thr481fs)
|
|
|
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs)
|
rs1245161888
|
|
NM_005591.4(MRE11):c.1445_1446delinsTTAA (p.Gln482fs)
|
rs786203314
|
|
NM_005591.4(MRE11):c.1485del (p.Asp495fs)
|
rs1591672201
|
|
NM_005591.4(MRE11):c.1531_1532del (p.Asn511fs)
|
rs757691558
|
|
NM_005591.4(MRE11):c.1532del (p.Asn511fs)
|
|
|
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
|
|
|
NM_005591.4(MRE11):c.1552G>T (p.Glu518Ter)
|
|
|
NM_005591.4(MRE11):c.157del (p.Asp53fs)
|
|
|
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)
|
rs876660186
|
|
NM_005591.4(MRE11):c.1720del (p.Arg574fs)
|
rs767787348
|
|
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)
|
rs774277300
|
|
NM_005591.4(MRE11):c.1773_1774del (p.Gly593fs)
|
rs1555005270
|
|
NM_005591.4(MRE11):c.1806_1809del (p.Thr603fs)
|
rs1591652976
|
|
NM_005591.4(MRE11):c.1826dup (p.Thr610fs)
|
rs876660269
|
|
NM_005591.4(MRE11):c.1869del (p.Phe624fs)
|
rs1264516058
|
|
NM_005591.4(MRE11):c.1882A>T (p.Arg628Ter)
|
rs1411087205
|
|
NM_005591.4(MRE11):c.1885C>T (p.Gln629Ter)
|
rs1157436927
|
|
NM_005591.4(MRE11):c.1897del (p.Arg633fs)
|
rs1555002419
|
|
NM_005591.4(MRE11):c.1957G>T (p.Glu653Ter)
|
|
|
NM_005591.4(MRE11):c.1997G>A (p.Trp666Ter)
|
|
|
NM_005591.4(MRE11):c.211del (p.Thr71fs)
|
rs1555017238
|
|
NM_005591.4(MRE11):c.215_219dup (p.Thr74fs)
|
rs1591719208
|
|
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)
|
rs779269083
|
|
NM_005591.4(MRE11):c.295_298del (p.Val99fs)
|
rs1555017184
|
|
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)
|
rs786202253
|
|
NM_005591.4(MRE11):c.508C>T (p.Gln170Ter)
|
rs587782030
|
|
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)
|
rs1157413766
|
|
NM_005591.4(MRE11):c.592del (p.Lys197_Val198insTer)
|
rs1359551200
|
|
NM_005591.4(MRE11):c.628del (p.Trp210fs)
|
|
|
NM_005591.4(MRE11):c.652C>T (p.Gln218Ter)
|
rs1591703044
|
|
NM_005591.4(MRE11):c.739dup (p.His247fs)
|
rs786203931
|
|
NM_005591.4(MRE11):c.775C>T (p.Gln259Ter)
|
rs1060501788
|
|
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
|
|
|
NM_005591.4(MRE11):c.806C>G (p.Ser269Ter)
|
rs776912688
|
|
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)
|
rs1565228898
|
|
NM_005591.4(MRE11):c.821_823delinsA (p.Leu274fs)
|
rs786202032
|
|
NM_005591.4(MRE11):c.832G>T (p.Glu278Ter)
|
|
|
NM_005591.4(MRE11):c.842del (p.Lys281fs)
|
|
|
NM_005591.4(MRE11):c.895del (p.Ile299fs)
|
rs1591692886
|
|
NM_005591.4(MRE11):c.916C>T (p.Gln306Ter)
|
|
|
NM_005591.4(MRE11):c.923dup (p.Met309fs)
|
rs587781828
|
|
NM_005591.4(MRE11):c.939del (p.Val313_Leu314insTer)
|
|
|
NM_005591.4(MRE11):c.988C>T (p.Gln330Ter)
|
|
|
NM_005732.4(RAD50):c.1002_1005del (p.Lys334fs)
|
rs1554098203
|
|
NM_005732.4(RAD50):c.1017dup (p.Asn340fs)
|
rs753905518
|
|
NM_005732.4(RAD50):c.1048C>T (p.Gln350Ter)
|
rs2149840715
|
|
NM_005732.4(RAD50):c.1081C>T (p.Gln361Ter)
|
rs1580992695
|
|
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter)
|
rs104895046
|
|
NM_005732.4(RAD50):c.1158_1159del (p.Pro387fs)
|
|
|
NM_005732.4(RAD50):c.1168_1169del (p.Glu390fs)
|
rs876660160
|
|
NM_005732.4(RAD50):c.1174C>T (p.Gln392Ter)
|
rs1554098251
|
|
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
NM_005732.4(RAD50):c.1174del (p.Gln392fs)
|
rs876660039
|
|
NM_005732.4(RAD50):c.1194del (p.Lys398fs)
|
rs780230934
|
|
NM_005732.4(RAD50):c.1206_1209del (p.Glu402fs)
|
rs786203655
|
|
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs)
|
rs786203655
|
|
NM_005732.4(RAD50):c.1210C>T (p.Gln404Ter)
|
rs1580992906
|
|
NM_005732.4(RAD50):c.1213G>T (p.Glu405Ter)
|
rs1554098262
|
|
NM_005732.4(RAD50):c.1235del (p.Asn412fs)
|
rs2149841198
|
|
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs)
|
rs1060501954
|
|
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)
|
rs587781327
|
|
NM_005732.4(RAD50):c.1284_1285del (p.Gln428fs)
|
|
|
NM_005732.4(RAD50):c.1287_1290del (p.Ile429fs)
|
rs1580993390
|
|
NM_005732.4(RAD50):c.129+1del
|
rs1580974562
|
|
NM_005732.4(RAD50):c.1291_1295del (p.Glu431fs)
|
rs1580993404
|
|
NM_005732.4(RAD50):c.1300_1306del (p.Asp434fs)
|
rs587780147
|
|
NM_005732.4(RAD50):c.1300_1306dup (p.Lys436delinsArgTer)
|
rs587780147
|
|
NM_005732.4(RAD50):c.1311_1312del (p.Gly438fs)
|
rs1463759914
|
|
NM_005732.4(RAD50):c.1353_1356del (p.Ser451fs)
|
rs1272811865
|
|
NM_005732.4(RAD50):c.1366G>T (p.Glu456Ter)
|
rs876659132
|
|
NM_005732.4(RAD50):c.1376del (p.Asn459fs)
|
rs1554098326
|
|
NM_005732.4(RAD50):c.1381A>T (p.Lys461Ter)
|
rs1580993516
|
|
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter)
|
rs587780150
|
|
NM_005732.4(RAD50):c.139G>T (p.Glu47Ter)
|
rs1750077980
|
|
NM_005732.4(RAD50):c.1407dup (p.Ser470fs)
|
|
|
NM_005732.4(RAD50):c.1544_1547del (p.Asp515fs)
|
rs786203151
|
|
NM_005732.4(RAD50):c.154del (p.Ile52fs)
|
rs876659837
|
|
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)
|
rs764968413
|
|
NM_005732.4(RAD50):c.1633A>T (p.Lys545Ter)
|
rs1253904315
|
|
NM_005732.4(RAD50):c.1688T>G (p.Leu563Ter)
|
|
|
NM_005732.4(RAD50):c.1704del (p.Tyr569fs)
|
rs1580994859
|
|
NM_005732.4(RAD50):c.1722dup (p.Gln575fs)
|
rs587782543
|
|
NM_005732.4(RAD50):c.1736G>A (p.Trp579Ter)
|
rs1554098484
|
|
NM_005732.4(RAD50):c.1737G>A (p.Trp579Ter)
|
rs1580994917
|
|
NM_005732.4(RAD50):c.1774del (p.Asp592fs)
|
rs757261714
|
|
NM_005732.4(RAD50):c.1777A>T (p.Arg593Ter)
|
|
|
NM_005732.4(RAD50):c.1813G>T (p.Glu605Ter)
|
rs1580996388
|
|
NM_005732.4(RAD50):c.1826dup (p.Asn609fs)
|
rs1554098584
|
|
NM_005732.4(RAD50):c.1851_1854del (p.Glu619fs)
|
rs1554098588
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.1953del (p.Lys651fs)
|
rs1580996563
|
|
NM_005732.4(RAD50):c.1963C>T (p.Gln655Ter)
|
rs1750765838
|
|
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter)
|
rs749466673
|
|
NM_005732.4(RAD50):c.1970-1_1972dup
|
rs1554098661
|
|
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter)
|
rs773761143
|
|
NM_005732.4(RAD50):c.2032del (p.Gln678fs)
|
|
|
NM_005732.4(RAD50):c.2034_2037dup (p.Cys680fs)
|
rs1580996988
|
|
NM_005732.4(RAD50):c.2054dup (p.Arg686fs)
|
rs1554098683
|
|
NM_005732.4(RAD50):c.2058_2059del (p.Arg686fs)
|
rs1580997021
|
|
NM_005732.4(RAD50):c.2069_2072del (p.Thr690fs)
|
rs2149844090
|
|
NM_005732.4(RAD50):c.2086G>T (p.Glu696Ter)
|
rs1388500583
|
|
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer)
|
rs1750779319
|
|
NM_005732.4(RAD50):c.2105del (p.Gln702fs)
|
|
|
NM_005732.4(RAD50):c.210del (p.Lys71fs)
|
|
|
NM_005732.4(RAD50):c.2156dup (p.Glu723fs)
|
rs1554098706
|
|
NM_005732.4(RAD50):c.2165del (p.Lys722fs)
|
rs397507178
|
|
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)
|
rs397507178
|
|
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)
|
rs786201789
|
|
NM_005732.4(RAD50):c.2209C>T (p.Gln737Ter)
|
rs549559726
|
|
NM_005732.4(RAD50):c.2227A>T (p.Lys743Ter)
|
rs1554099081
|
|
NM_005732.4(RAD50):c.2284C>T (p.Gln762Ter)
|
rs876660797
|
|
NM_005732.4(RAD50):c.2314del (p.Glu772fs)
|
rs1554099106
|
|
NM_005732.4(RAD50):c.2361del (p.Cys788fs)
|
rs1554099112
|
|
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)
|
rs1060501936
|
|
NM_005732.4(RAD50):c.2516T>A (p.Leu839Ter)
|
rs776395588
|
|
NM_005732.4(RAD50):c.2534dup (p.Ile846fs)
|
rs1281337925
|
|
NM_005732.4(RAD50):c.2569C>T (p.Gln857Ter)
|
rs1060501973
|
|
NM_005732.4(RAD50):c.2605G>T (p.Glu869Ter)
|
rs764449224
|
|
NM_005732.4(RAD50):c.2613del (p.Lys871fs)
|
|
|
NM_005732.4(RAD50):c.2707del (p.Arg903fs)
|
rs863224509
|
|
NM_005732.4(RAD50):c.2744dup (p.Leu915fs)
|
rs876658976
|
|
NM_005732.4(RAD50):c.2784del (p.Glu928fs)
|
|
|
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)
|
rs587781930
|
|
NM_005732.4(RAD50):c.2792del (p.Asn931fs)
|
rs1581004275
|
|
NM_005732.4(RAD50):c.2801del (p.Asn934fs)
|
rs748536322
|
|
NM_005732.4(RAD50):c.2801dup (p.Asn934fs)
|
rs748536322
|
|
NM_005732.4(RAD50):c.282del (p.Ile94fs)
|
rs1561634357
|
|
NM_005732.4(RAD50):c.2838_2841dup (p.Lys948delinsTyrTer)
|
|
|
NM_005732.4(RAD50):c.2876_2877del (p.Lys959fs)
|
rs1581004664
|
|
NM_005732.4(RAD50):c.2899del (p.Asp967fs)
|
rs1554099372
|
|
NM_005732.4(RAD50):c.289C>T (p.Gln97Ter)
|
rs2149836428
|
|
NM_005732.4(RAD50):c.2928del (p.Glu977fs)
|
|
|
NM_005732.4(RAD50):c.2929_2932del (p.Glu977fs)
|
rs587780153
|
|
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer)
|
rs1060501942
|
|
NM_005732.4(RAD50):c.2940dup (p.Asn981Ter)
|
rs2149849841
|
|
NM_005732.4(RAD50):c.2952del (p.Ile984fs)
|
rs1581004875
|
|
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter)
|
rs876660364
|
|
NM_005732.4(RAD50):c.2981_2982del (p.Lys994fs)
|
rs1561647559
|
|
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs)
|
rs587780154
|
|
NM_005732.4(RAD50):c.2985_2989del (p.Glu995fs)
|
rs1060501949
|
|
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)
|
rs1060501941
|
|
NM_005732.4(RAD50):c.3040C>T (p.Gln1014Ter)
|
rs1581008368
|
|
NM_005732.4(RAD50):c.3055C>T (p.Gln1019Ter)
|
rs1233081327
|
|
NM_005732.4(RAD50):c.3067_3070del (p.Leu1022_Thr1023insTer)
|
rs1554099781
|
|
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer)
|
rs753950483
|
|
NM_005732.4(RAD50):c.3160A>T (p.Lys1054Ter)
|
|
|
NM_005732.4(RAD50):c.3175A>T (p.Lys1059Ter)
|
rs1581009347
|
|
NM_005732.4(RAD50):c.3179T>A (p.Leu1060Ter)
|
rs1554099864
|
|
NM_005732.4(RAD50):c.3209del (p.Asn1070fs)
|
rs786202187
|
|
NM_005732.4(RAD50):c.326_327del (p.Thr109fs)
|
|
|
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)
|
rs587780155
|
|
NM_005732.4(RAD50):c.3271_3272del (p.Glu1091fs)
|
rs1581009466
|
|
NM_005732.4(RAD50):c.3365del (p.Asp1122fs)
|
|
|
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter)
|
rs775069541
|
|
NM_005732.4(RAD50):c.3440_3441dup (p.Arg1148fs)
|
rs1554100863
|
|
NM_005732.4(RAD50):c.3476del (p.Asp1159fs)
|
rs1554100940
|
|
NM_005732.4(RAD50):c.3483del (p.Glu1161fs)
|
rs1554100942
|
|
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs)
|
rs878854799
|
|
NM_005732.4(RAD50):c.3521C>G (p.Ser1174Ter)
|
|
|
NM_005732.4(RAD50):c.3525_3538del (p.Ser1176fs)
|
rs1423570602
|
|
NM_005732.4(RAD50):c.354del (p.Thr119fs)
|
rs587781721
|
|
NM_005732.4(RAD50):c.3649dup (p.Leu1217fs)
|
rs2149865588
|
|
NM_005732.4(RAD50):c.3671del (p.Asn1224fs)
|
|
|
NM_005732.4(RAD50):c.3707dup (p.Asn1236fs)
|
rs1554101189
|
|
NM_005732.4(RAD50):c.3710_3714del (p.Leu1237fs)
|
|
|
NM_005732.4(RAD50):c.3779del (p.Arg1260fs)
|
rs786202259
|
|
NM_005732.4(RAD50):c.3780dup (p.Asn1261Ter)
|
rs1581024951
|
|
NM_005732.4(RAD50):c.3781_3784dup (p.Phe1262Ter)
|
rs1581024954
|
|
NM_005732.4(RAD50):c.3787C>T (p.Gln1263Ter)
|
rs876659654
|
|
NM_005732.4(RAD50):c.393_394insTT (p.Lys132fs)
|
rs1458900761
|
|
NM_005732.4(RAD50):c.393dup (p.Lys132Ter)
|
rs1458900761
|
|
NM_005732.4(RAD50):c.399_400del (p.Ala134fs)
|
rs587781355
|
|
NM_005732.4(RAD50):c.415G>T (p.Glu139Ter)
|
rs876660467
|
|
NM_005732.4(RAD50):c.423del (p.Ser142fs)
|
rs1580987185
|
|
NM_005732.4(RAD50):c.471T>A (p.Cys157Ter)
|
rs113018012
|
|
NM_005732.4(RAD50):c.474_483delinsAA (p.His158fs)
|
rs1064792948
|
|
NM_005732.4(RAD50):c.491G>A (p.Trp164Ter)
|
|
|
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs)
|
rs876659255
|
|
NM_005732.4(RAD50):c.541dup (p.Ser181fs)
|
rs786201531
|
|
NM_005732.4(RAD50):c.561dup (p.Ala188fs)
|
rs876659005
|
|
NM_005732.4(RAD50):c.576del (p.Arg193fs)
|
rs1580987596
|
|
NM_005732.4(RAD50):c.599del (p.Gly200fs)
|
|
|
NM_005732.4(RAD50):c.643C>T (p.Gln215Ter)
|
rs587781576
|
|
NM_005732.4(RAD50):c.648del (p.Gln215_Tyr216insTer)
|
rs1554097816
|
|
NM_005732.4(RAD50):c.689del (p.Lys230fs)
|
rs1750477011
|
|
NM_005732.4(RAD50):c.715del (p.Glu239fs)
|
rs1580987780
|
|
NM_005732.4(RAD50):c.72del (p.Ile25fs)
|
rs1554096644
|
|
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer)
|
rs1580987798
|
|
NM_005732.4(RAD50):c.788_789del (p.Leu262_Ser263insTer)
|
|
|
NM_005732.4(RAD50):c.815_819del (p.Ile272fs)
|
rs1444604511
|
|
NM_005732.4(RAD50):c.833del (p.Arg278fs)
|
|
|
NM_005732.4(RAD50):c.897del (p.Thr300fs)
|
rs1580992089
|
|
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter)
|
rs587782090
|
|
NM_005732.4(RAD50):c.965del (p.Leu322fs)
|
rs786203403
|
|
NM_005732.4(RAD50):c.999_1002del (p.Asn333fs)
|
rs1580992265
|
|
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)
|
rs483352909
|
|
NM_007194.4(CHEK2):c.1004_1005del (p.Val335fs)
|
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1046del (p.Lys349fs)
|
|
|
NM_007194.4(CHEK2):c.1059_1060insA (p.Leu354fs)
|
|
|
NM_007194.4(CHEK2):c.1066dup (p.Ser356fs)
|
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
NM_007194.4(CHEK2):c.1100dup (p.Thr367_Asp368insTer)
|
|
|
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1124del (p.Leu375fs)
|
|
|
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
|
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
NM_007194.4(CHEK2):c.1151T>A (p.Leu384Ter)
|
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
|
rs587780169
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1197del (p.Thr401fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1200del (p.Thr401fs)
|
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)
|
rs587781836
|
|
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)
|
rs786203031
|
|
NM_007194.4(CHEK2):c.1229del (p.Cys410fs)
|
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
NM_007194.4(CHEK2):c.1254dup (p.Ile419fs)
|
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
NM_007194.4(CHEK2):c.1260_1261del (p.Cys420_Leu421insTer)
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
|
|
|
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
|
|
|
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
NM_007194.4(CHEK2):c.1305dup (p.Leu436fs)
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1323del (p.Ser442fs)
|
rs1555913464
|
|
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter)
|
rs1214213337
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
NM_007194.4(CHEK2):c.1349_1350del (p.Glu450fs)
|
rs1601719250
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.1357del (p.Ala453fs)
|
|
|
NM_007194.4(CHEK2):c.1364del (p.Val455fs)
|
|
|
NM_007194.4(CHEK2):c.1368del (p.Glu457fs)
|
rs1555913410
|
|
NM_007194.4(CHEK2):c.1397T>A (p.Leu466Ter)
|
rs1601716482
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1425del (p.Phe475fs)
|
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
|
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.156_166del (p.Ser53fs)
|
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
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.225del (p.Glu76fs)
|
|
|
NM_007194.4(CHEK2):c.232del (p.Gln78fs)
|
rs1555932344
|
|
NM_007194.4(CHEK2):c.233_239del (p.Gln78fs)
|
|
|
NM_007194.4(CHEK2):c.234del (p.Glu79fs)
|
|
|
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
|
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.269del (p.Pro90fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.272_278del (p.Ala91fs)
|
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.280del (p.Ala94fs)
|
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)
|
rs2054312626
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
NM_007194.4(CHEK2):c.295del (p.Leu99fs)
|
rs1601851248
|
|
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)
|
rs876659833
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.319+3A>C
|
rs1569169765
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer)
|
rs2053967484
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
|
|
|
NM_007194.4(CHEK2):c.360del (p.Cys121fs)
|
rs1601825829
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.368_369dup (p.Cys124fs)
|
|
|
NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter)
|
rs1555927291
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
NM_007194.4(CHEK2):c.403A>T (p.Lys135Ter)
|
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter)
|
rs911826883
|
|
NM_007194.4(CHEK2):c.415_422del (p.Tyr139fs)
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs)
|
rs1601824130
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
NM_007194.4(CHEK2):c.482_486delinsTGG (p.Glu161fs)
|
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.514dup (p.Thr172fs)
|
rs1601823546
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
|
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
NM_007194.4(CHEK2):c.568_569insACCTTTGAATAACAATTCTGAAATTG (p.Ala190delinsAspLeuTer)
|
rs1601823036
|
|
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)
|
rs1555932877
|
|
NM_007194.4(CHEK2):c.570del (p.Leu191fs)
|
|
|
NM_007194.4(CHEK2):c.571_572del (p.Leu191fs)
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.592+1G>A
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)
|
rs1555926708
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
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.629C>A (p.Ser210Ter)
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.64del (p.His22fs)
|
rs2054335480
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.656_666del (p.Glu219fs)
|
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
NM_007194.4(CHEK2):c.670A>T (p.Lys224Ter)
|
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.684-1582_846+1965dup
|
|
|
NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs)
|
rs1555921327
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs)
|
rs2146157133
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.730A>T (p.Lys244Ter)
|
|
|
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter)
|
rs1601783375
|
|
NM_007194.4(CHEK2):c.746del (p.Lys249fs)
|
|
|
NM_007194.4(CHEK2):c.762dup (p.Lys255fs)
|
rs1131691044
|
|
NM_007194.4(CHEK2):c.76delinsCT (p.Thr26fs)
|
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
NM_007194.4(CHEK2):c.792del (p.Asp265fs)
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.856del (p.Ile286fs)
|
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.864del (p.Asn290fs)
|
|
|
NM_007194.4(CHEK2):c.866_869del (p.Lys289fs)
|
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.879del (p.Asp293fs)
|
rs1555916968
|
|
NM_007194.4(CHEK2):c.883G>T (p.Glu295Ter)
|
|
|
NM_007194.4(CHEK2):c.892del (p.Tyr298fs)
|
rs2145877300
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
NM_007194.4(CHEK2):c.953del (p.Arg318fs)
|
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
NM_007194.4(CHEK2):c.963del (p.Ala322fs)
|
rs2052762437
|
|
NM_007194.4(CHEK2):c.966_972dup (p.Lys325fs)
|
rs1601738571
|
|
NM_007194.4(CHEK2):c.974del (p.Lys325fs)
|
rs1555915409
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
NM_007294.3(BRCA1):c.238_239delAGins22 (p.?)
|
|
|
NM_007294.3:c.134+2460_4357+2437dup
|
|
|
NM_007294.3:c.134+2513_4357+2438dup
|
|
|
NM_007294.3:c.5074+925_5277+2098dup
|
|
|
NM_007294.4(BRCA1):c.1002del (p.Ser335fs)
|
rs876658404
|
|
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)
|
rs1555592671
|
|
NM_007294.4(BRCA1):c.1009dup (p.Glu337fs)
|
|
|
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.101del (p.Pro34fs)
|
rs80357750
|
|
NM_007294.4(BRCA1):c.1041del (p.Cys348fs)
|
rs1597878453
|
|
NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter)
|
rs80357338
|
|
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs)
|
rs886039925
|
|
NM_007294.4(BRCA1):c.1054del (p.Glu352fs)
|
rs886039926
|
|
NM_007294.4(BRCA1):c.105_134+1007delinsTCCTTGAT
|
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
NM_007294.4(BRCA1):c.1066delinsGATGGAATAAGG (p.Gln356fs)
|
|
|
NM_007294.4(BRCA1):c.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1072del (p.Leu358fs)
|
rs80357836
|
|
NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter)
|
rs397508833
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs)
|
rs80357897
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter)
|
rs398122627
|
|
NM_007294.4(BRCA1):c.1099del (p.Thr367fs)
|
rs2154476235
|
|
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)
|
rs80357139
|
|
NM_007294.4(BRCA1):c.1105_1106insTC (p.Asp369fs)
|
rs876659396
|
|
NM_007294.4(BRCA1):c.1105dup (p.Asp369fs)
|
rs1555592498
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
NM_007294.4(BRCA1):c.1120del (p.Thr374fs)
|
|
|
NM_007294.4(BRCA1):c.1121del (p.Thr374fs)
|
rs80357612
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.1129del (p.Ser377fs)
|
rs2053988613
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
NM_007294.4(BRCA1):c.1133del (p.Ser378fs)
|
rs1597877892
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs)
|
rs431825384
|
|
NM_007294.4(BRCA1):c.1148del (p.Asn383fs)
|
rs878854930
|
|
NM_007294.4(BRCA1):c.1154G>A (p.Trp385Ter)
|
rs1555592354
|
|
NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter)
|
rs876660558
|
|
NM_007294.4(BRCA1):c.1155del (p.Trp385fs)
|
rs2154473109
|
|
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.115_134+1567del
|
|
|
NM_007294.4(BRCA1):c.1162A>T (p.Arg388Ter)
|
rs111312760
|
|
NM_007294.4(BRCA1):c.1165del (p.Ser389fs)
|
rs80357985
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter)
|
rs562553169
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1179_1180dup (p.Gly394fs)
|
rs1555592304
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
|
rs80357972
|
|
NM_007294.4(BRCA1):c.1188del (p.Asp396fs)
|
rs397508845
|
|
NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)
|
rs273897655
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1205dup (p.Ser403fs)
|
rs1555592219
|
|
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.1232_1233del (p.Asp411fs)
|
rs397508848
|
|
NM_007294.4(BRCA1):c.1232_1235delinsCA (p.Asp411fs)
|
rs876659253
|
|
NM_007294.4(BRCA1):c.1240dup (p.Asp414fs)
|
rs786204260
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)
|
rs80357083
|
|
NM_007294.4(BRCA1):c.1252del (p.Glu418fs)
|
rs876660623
|
|
NM_007294.4(BRCA1):c.1252dup (p.Glu418fs)
|
rs886039936
|
|
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)
|
rs80357535
|
|
NM_007294.4(BRCA1):c.1256dup (p.Asp420fs)
|
rs786203103
|
|
NM_007294.4(BRCA1):c.1259del (p.Asp420fs)
|
|
|
NM_007294.4(BRCA1):c.1264dup (p.Tyr422fs)
|
|
|
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)
|
rs80357417
|
|
NM_007294.4(BRCA1):c.1271del (p.Gly424fs)
|
|
|
NM_007294.4(BRCA1):c.1276del (p.Ser426fs)
|
rs80357766
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
NM_007294.4(BRCA1):c.1303_1309del (p.Asp435fs)
|
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.1312G>T (p.Glu438Ter)
|
|
|
NM_007294.4(BRCA1):c.1312_1322del (p.Glu438fs)
|
|
|
NM_007294.4(BRCA1):c.1315dup (p.Ala439fs)
|
rs1555591956
|
|
NM_007294.4(BRCA1):c.1319T>G (p.Leu440Ter)
|
rs273897656
|
|
NM_007294.4(BRCA1):c.1319del (p.Ala439_Leu440insTer)
|
rs80357683
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs)
|
rs80357570
|
|
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)
|
rs80357543
|
|
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)
|
rs397508854
|
|
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter)
|
rs398122630
|
|
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)
|
rs397508857
|
|
NM_007294.4(BRCA1):c.134+1G>A
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+2T>A
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+2T>C
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+3A>C
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134+3A>T
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
|
|
NM_007294.4(BRCA1):c.134+5G>C
|
rs80358038
|
|
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)
|
rs80357597
|
|
NM_007294.4(BRCA1):c.135-1G>C
|
rs80358158
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1361del (p.Ser454fs)
|
rs398122632
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1369G>T (p.Glu457Ter)
|
rs2154451153
|
|
NM_007294.4(BRCA1):c.1374del (p.Asp458fs)
|
rs397508862
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)
|
rs273897659
|
|
NM_007294.4(BRCA1):c.1395T>G (p.Tyr465Ter)
|
rs2154448397
|
|
NM_007294.4(BRCA1):c.1395del (p.Arg466fs)
|
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)
|
rs80357490
|
|
NM_007294.4(BRCA1):c.1428_1437del (p.His476fs)
|
rs886039953
|
|
NM_007294.4(BRCA1):c.1432_1441dup (p.Leu481delinsHisTer)
|
|
|
NM_007294.4(BRCA1):c.1434del (p.Glu479fs)
|
rs431825386
|
|
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.1444_1447dup (p.Ile483fs)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1457_1461del (p.Phe486fs)
|
|
|
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs)
|
rs80357599
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1475_1476del (p.Ile492fs)
|
|
|
NM_007294.4(BRCA1):c.1477del (p.Ile493fs)
|
rs786203982
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter)
|
rs2053932763
|
|
NM_007294.4(BRCA1):c.1488del (p.Leu498fs)
|
rs587782251
|
|
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.1511dup (p.Arg504_Lys505insTer)
|
rs80357817
|
|
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)
|
rs398122636
|
|
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)
|
rs397508877
|
|
NM_007294.4(BRCA1):c.1518del (p.Arg507fs)
|
rs80357947
|
|
NM_007294.4(BRCA1):c.1523del (p.Pro508fs)
|
rs80357782
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1530del (p.Gly511fs)
|
rs80357735
|
|
NM_007294.4(BRCA1):c.1531_1555del (p.Gly511fs)
|
|
|
NM_007294.4(BRCA1):c.1532del (p.Gly511fs)
|
|
|
NM_007294.4(BRCA1):c.1534del (p.Leu512fs)
|
|
|
NM_007294.4(BRCA1):c.1542_1550delinsCG (p.Glu515fs)
|
rs876659591
|
|
NM_007294.4(BRCA1):c.1551dup (p.Ile518fs)
|
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1568del (p.Leu523fs)
|
rs1555591543
|
|
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)
|
rs80356984
|
|
NM_007294.4(BRCA1):c.1576_1580delinsAAG (p.Gln526fs)
|
|
|
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)
|
rs431825387
|
|
NM_007294.4(BRCA1):c.1586del (p.Pro529fs)
|
|
|
NM_007294.4(BRCA1):c.1598del (p.Asn533fs)
|
|
|
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.1604del (p.Gly535fs)
|
rs2154434302
|
|
NM_007294.4(BRCA1):c.1606del (p.Thr536fs)
|
|
|
NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter)
|
rs80356864
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs)
|
rs587776480
|
|
NM_007294.4(BRCA1):c.1618del (p.Glu540fs)
|
rs1555591470
|
|
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
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.1644_1689dup (p.Asn564delinsTyrTer)
|
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1674dup (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1676del (p.Gly559fs)
|
rs1555591383
|
|
NM_007294.4(BRCA1):c.1691del (p.Asn564fs)
|
rs2053899411
|
|
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)
|
rs273897664
|
|
NM_007294.4(BRCA1):c.1700_1701dup (p.Pro568fs)
|
|
|
NM_007294.4(BRCA1):c.1709del (p.Pro570fs)
|
rs2154428779
|
|
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)
|
rs80357640
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1716del (p.Glu572fs)
|
rs397508900
|
|
NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)
|
rs397508902
|
|
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.1745del (p.Thr582fs)
|
rs1597874447
|
|
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
|
rs80357723
|
|
NM_007294.4(BRCA1):c.1758_1760delinsAA (p.Ile587fs)
|
|
|
NM_007294.4(BRCA1):c.1759_1762del (p.Ile587fs)
|
rs879255479
|
|
NM_007294.4(BRCA1):c.1759del (p.Pro586_Ile587insTer)
|
rs398122642
|
|
NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs)
|
rs876659196
|
|
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)
|
rs55650082
|
|
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)
|
rs80357471
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
NM_007294.4(BRCA1):c.1791del (p.Glu597fs)
|
|
|
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter)
|
rs80357118
|
|
NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs)
|
rs886039968
|
|
NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)
|
rs397508909
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.1823del (p.Lys608fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.1823dup (p.Asn609fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
NM_007294.4(BRCA1):c.1831del (p.Arg610_Leu611insTer)
|
rs397508913
|
|
NM_007294.4(BRCA1):c.1836dup (p.Arg613fs)
|
rs876660523
|
|
NM_007294.4(BRCA1):c.1860del (p.His621fs)
|
rs730881459
|
|
NM_007294.4(BRCA1):c.1869_1902del (p.Glu624fs)
|
|
|
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)
|
rs80356950
|
|
NM_007294.4(BRCA1):c.1871_1874delinsTTC (p.Glu624fs)
|
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer)
|
rs398122646
|
|
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.1892dup (p.Ser632fs)
|
rs80357932
|
|
NM_007294.4(BRCA1):c.1898del (p.Pro633fs)
|
rs80357851
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
NM_007294.4(BRCA1):c.1915_1993del (p.Leu639fs)
|
|
|
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter)
|
rs80357267
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.192T>A (p.Cys64Ter)
|
rs587781632
|
|
NM_007294.4(BRCA1):c.1934del (p.Ser645fs)
|
|
|
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs)
|
rs397508920
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
|
rs80357753
|
|
NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1962del (p.Lys654fs)
|
|
|
NM_007294.4(BRCA1):c.1964del (p.Tyr655fs)
|
rs786203594
|
|
NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)
|
rs886039987
|
|
NM_007294.4(BRCA1):c.1965C>G (p.Tyr655Ter)
|
rs886039987
|
|
NM_007294.4(BRCA1):c.196_204delinsGACATAAGGTATAT (p.Asn66fs)
|
|
|
NM_007294.4(BRCA1):c.1974del (p.Met658fs)
|
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
NM_007294.4(BRCA1):c.1987del (p.Ser663fs)
|
|
|
NM_007294.4(BRCA1):c.1998_2022del (p.Met669fs)
|
|
|
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter)
|
rs80356889
|
|
NM_007294.4(BRCA1):c.19_47del (p.Arg7fs)
|
rs80359871
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)
|
rs80357521
|
|
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter)
|
rs397508929
|
|
NM_007294.4(BRCA1):c.2016dup (p.Glu673fs)
|
rs2154403814
|
|
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)
|
rs80357391
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.2029G>T (p.Gly677Ter)
|
rs1597872603
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)
|
rs397508932
|
|
NM_007294.4(BRCA1):c.203_204del (p.Ile68fs)
|
rs398122651
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2046del (p.Asn682fs)
|
|
|
NM_007294.4(BRCA1):c.2055dup (p.Glu686Ter)
|
|
|
NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter)
|
rs587782709
|
|
NM_007294.4(BRCA1):c.2056dup (p.Glu686fs)
|
|
|
NM_007294.4(BRCA1):c.2057_2060del (p.Glu686fs)
|
rs1597872456
|
|
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.2066_2069del (p.Ser689fs)
|
rs886037994
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2074del (p.His692fs)
|
rs80357554
|
|
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)
|
rs80357595
|
|
NM_007294.4(BRCA1):c.2077delinsATA (p.Asp693fs)
|
rs886039991
|
|
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)
|
rs886039996
|
|
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)
|
rs876660282
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
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.2125_2126insAG (p.Phe709Ter)
|
|
|
NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter)
|
rs1555590428
|
|
NM_007294.4(BRCA1):c.2126_2127del (p.Phe709fs)
|
rs397508939
|
|
NM_007294.4(BRCA1):c.2127del (p.Phe709fs)
|
rs397508939
|
|
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.213-1G>A
|
rs80358146
|
|
NM_007294.4(BRCA1):c.213-5T>A
|
rs886038196
|
|
NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs)
|
rs1060502332
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)
|
rs80357233
|
|
NM_007294.4(BRCA1):c.2143_2155delinsTCTTT (p.Thr715fs)
|
rs1567796807
|
|
NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs)
|
rs886040005
|
|
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)
|
rs80357715
|
|
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)
|
rs80356875
|
|
NM_007294.4(BRCA1):c.2158_2159del (p.Glu720fs)
|
rs1567796780
|
|
NM_007294.4(BRCA1):c.2164del (p.Val722fs)
|
rs1555590315
|
|
NM_007294.4(BRCA1):c.2174_2256dup (p.Ser753delinsAlaPheGlnGluLysLysLysLysArgAsnTer)
|
|
|
NM_007294.4(BRCA1):c.2176del (p.Leu726fs)
|
rs80357668
|
|
NM_007294.4(BRCA1):c.2187del (p.Glu730fs)
|
|
|
NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs)
|
rs397508946
|
|
NM_007294.4(BRCA1):c.2193_2196del (p.Glu732fs)
|
rs397508947
|
|
NM_007294.4(BRCA1):c.2193del (p.Glu732fs)
|
rs886040009
|
|
NM_007294.4(BRCA1):c.2193dup (p.Glu732fs)
|
|
|
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
|
rs397508949
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2209del (p.Thr737fs)
|
rs1060502333
|
|
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)
|
rs80357234
|
|
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)
|
rs80357654
|
|
NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs)
|
rs397508951
|
|
NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
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.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2244del (p.Asp749fs)
|
|
|
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs)
|
rs80357697
|
|
NM_007294.4(BRCA1):c.2260G>T (p.Gly754Ter)
|
rs2053792392
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2273dup (p.Leu758fs)
|
rs80357681
|
|
NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter)
|
rs80356999
|
|
NM_007294.4(BRCA1):c.2281G>T (p.Glu761Ter)
|
|
|
NM_007294.4(BRCA1):c.2289del (p.Ser763_Val764insTer)
|
rs876658791
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)
|
rs80357780
|
|
NM_007294.4(BRCA1):c.2297_2298del (p.Ser766fs)
|
rs1597870909
|
|
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
|
rs80357786
|
|
NM_007294.4(BRCA1):c.2302del (p.Ser768fs)
|
rs1555589953
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2314del (p.Val772fs)
|
rs80357957
|
|
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)
|
rs80357725
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2340_2394dup (p.Asn799delinsGlyLysTyrLeuValThrGlySerTer)
|
rs1597870272
|
|
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)
|
|
|
NM_007294.4(BRCA1):c.2342_2343insCT (p.Glu781fs)
|
|
|
NM_007294.4(BRCA1):c.2344dup (p.Ser782fs)
|
rs2053777729
|
|
NM_007294.4(BRCA1):c.2345del (p.Ser782fs)
|
rs1597870583
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2347_2348del (p.Ile783fs)
|
rs1597870555
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
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.2361del (p.Val788fs)
|
rs886040028
|
|
NM_007294.4(BRCA1):c.2362del (p.Val788fs)
|
rs876659136
|
|
NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer)
|
rs876660305
|
|
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.2392_2393delinsA (p.Pro798fs)
|
rs80357850
|
|
NM_007294.4(BRCA1):c.2393del (p.Pro798fs)
|
rs80357850
|
|
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs)
|
rs786202684
|
|
NM_007294.4(BRCA1):c.2402del (p.Cys801fs)
|
rs876659447
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
|
|
|
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs)
|
rs80357674
|
|
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.2415T>A (p.Cys805Ter)
|
rs1597870104
|
|
NM_007294.4(BRCA1):c.2415_2416del (p.Ala806fs)
|
|
|
NM_007294.4(BRCA1):c.2418del (p.Ala807fs)
|
rs879255281
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2424del (p.Phe808fs)
|
rs397507200
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2433dup (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)
|
rs80357186
|
|
NM_007294.4(BRCA1):c.2443del (p.Ile815fs)
|
rs80357598
|
|
NM_007294.4(BRCA1):c.2450dup (p.Cys818fs)
|
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)
|
rs80357830
|
|
NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs)
|
rs80357800
|
|
NM_007294.4(BRCA1):c.2477_2478insT (p.Glu827fs)
|
|
|
NM_007294.4(BRCA1):c.2481del (p.Gly828fs)
|
rs886040042
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter)
|
rs1555589569
|
|
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs)
|
rs483353078
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
NM_007294.4(BRCA1):c.2504dup (p.His835fs)
|
rs1555589513
|
|
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)
|
rs398122661
|
|
NM_007294.4(BRCA1):c.250_257dup (p.Leu87fs)
|
|
|
NM_007294.4(BRCA1):c.2515del (p.His839fs)
|
rs80357607
|
|
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs)
|
rs397508974
|
|
NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter)
|
rs876658552
|
|
NM_007294.4(BRCA1):c.2530del (p.Ser844fs)
|
|
|
NM_007294.4(BRCA1):c.2539del (p.Met847fs)
|
|
|
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)
|
rs80356951
|
|
NM_007294.4(BRCA1):c.2548del (p.Ser850fs)
|
rs1555589434
|
|
NM_007294.4(BRCA1):c.2550_2551del (p.Ser850fs)
|
rs1597869317
|
|
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.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2567del (p.Tyr856fs)
|
rs1597869157
|
|
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
NM_007294.4(BRCA1):c.2590del (p.Ser864fs)
|
|
|
NM_007294.4(BRCA1):c.2590dup (p.Ser864fs)
|
rs1597868983
|
|
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)
|
rs80357003
|
|
NM_007294.4(BRCA1):c.2593A>T (p.Lys865Ter)
|
rs587782628
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
NM_007294.4(BRCA1):c.2599_2626del (p.Gln867fs)
|
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2606_2654del (p.Phe869fs)
|
|
|
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)
|
rs80357948
|
|
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)
|
rs397508986
|
|
NM_007294.4(BRCA1):c.2621del (p.Asn874fs)
|
rs587781423
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
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.2643del (p.Glu881fs)
|
rs397508989
|
|
NM_007294.4(BRCA1):c.2649_2650del (p.Thr884fs)
|
rs886040058
|
|
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs)
|
rs886038003
|
|
NM_007294.4(BRCA1):c.2654del (p.Phe885fs)
|
rs398122663
|
|
NM_007294.4(BRCA1):c.2654dup (p.Ser886fs)
|
rs398122663
|
|
NM_007294.4(BRCA1):c.2657_2658del (p.Ser886fs)
|
rs397508990
|
|
NM_007294.4(BRCA1):c.2666dup (p.Gly890fs)
|
rs876660425
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2680A>T (p.Lys894Ter)
|
rs876659457
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter)
|
rs397508997
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2694del (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer)
|
rs80357899
|
|
NM_007294.4(BRCA1):c.2704del (p.Glu902fs)
|
rs886040064
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
NM_007294.4(BRCA1):c.2717del (p.Lys906fs)
|
rs876659072
|
|
NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter)
|
rs876658593
|
|
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)
|
rs80357731
|
|
NM_007294.4(BRCA1):c.2719del (p.Glu907fs)
|
rs879255481
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2726del (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2726dup (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
NM_007294.4(BRCA1):c.273_274del (p.Ala92fs)
|
rs587776485
|
|
NM_007294.4(BRCA1):c.273del (p.Cys91fs)
|
|
|
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)
|
rs80357419
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
NM_007294.4(BRCA1):c.2745_2751dup (p.Lys918Ter)
|
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2753_2755delinsCA (p.Lys918fs)
|
rs886040069
|
|
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.2767_2770del (p.Val923fs)
|
rs80357661
|
|
NM_007294.4(BRCA1):c.2770_2792del (p.Asn924fs)
|
|
|
NM_007294.4(BRCA1):c.2771_2772insC (p.Ile925fs)
|
|
|
NM_007294.4(BRCA1):c.2796del (p.Gly933fs)
|
rs1555588942
|
|
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.2809A>T (p.Lys937Ter)
|
rs1555588915
|
|
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)
|
rs886037972
|
|
NM_007294.4(BRCA1):c.2814del (p.Val939fs)
|
rs886040074
|
|
NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA (p.Asp940_Cys944delinsGluArgTer)
|
rs1555588883
|
|
NM_007294.4(BRCA1):c.2831_2835del (p.Cys944fs)
|
|
|
NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)
|
rs80357458
|
|
NM_007294.4(BRCA1):c.2833del (p.Ser945fs)
|
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
NM_007294.4(BRCA1):c.2837_2838delinsA (p.Ile946fs)
|
|
|
NM_007294.4(BRCA1):c.2839A>T (p.Lys947Ter)
|
rs1597867344
|
|
NM_007294.4(BRCA1):c.283_286del (p.Leu95fs)
|
rs1567811070
|
|
NM_007294.4(BRCA1):c.2845_2849del (p.Gly948_Gly949insTer)
|
|
|
NM_007294.4(BRCA1):c.2857del (p.Cys953fs)
|
rs397509019
|
|
NM_007294.4(BRCA1):c.2861del (p.Leu954fs)
|
rs1597867214
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
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.2869C>T (p.Gln957Ter)
|
rs80356973
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.287A>T (p.Asp96Val)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.2887del (p.Thr963fs)
|
rs80357559
|
|
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs)
|
rs80357890
|
|
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.2907_2938delinsCATGGAC (p.Lys970fs)
|
|
|
NM_007294.4(BRCA1):c.2907del (p.Asn969fs)
|
rs1597866816
|
|
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs)
|
rs80357738
|
|
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)
|
rs878854940
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter)
|
rs80356872
|
|
NM_007294.4(BRCA1):c.2921del (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter)
|
rs80357497
|
|
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
|
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2934del (p.Arg979fs)
|
rs80357741
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2947del (p.Leu983fs)
|
rs876659108
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2952dup (p.Pro985fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2955del (p.Ile986fs)
|
rs397509027
|
|
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)
|
rs1555588625
|
|
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)
|
rs886040088
|
|
NM_007294.4(BRCA1):c.2961del (p.Lys987fs)
|
|
|
NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter)
|
rs397507206
|
|
NM_007294.4(BRCA1):c.2963C>G (p.Ser988Ter)
|
|
|
NM_007294.4(BRCA1):c.2970del (p.Thr992fs)
|
rs886040089
|
|
NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)
|
rs397509030
|
|
NM_007294.4(BRCA1):c.297_300del (p.Leu99fs)
|
|
|
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)
|
rs397507207
|
|
NM_007294.4(BRCA1):c.2982T>A (p.Cys994Ter)
|
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)
|
rs273899692
|
|
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
|
rs80357991
|
|
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)
|
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.3009dup (p.Glu1004Ter)
|
|
|
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
|
rs2154347100
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)
|
rs80357168
|
|
NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)
|
rs273899696
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.3033_3034del (p.Glu1013fs)
|
rs1567793163
|
|
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs)
|
rs397507208
|
|
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs)
|
rs80357746
|
|
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.3062del (p.Ser1021fs)
|
rs1135401857
|
|
NM_007294.4(BRCA1):c.3064dup (p.Thr1022fs)
|
rs1135401858
|
|
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)
|
rs786202906
|
|
NM_007294.4(BRCA1):c.3083del (p.Arg1028fs)
|
rs1484076591
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3091dup (p.Ile1031fs)
|
rs1555588399
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3108del (p.Phe1036fs)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)
|
rs80357161
|
|
NM_007294.4(BRCA1):c.3113_3115delinsGA (p.Glu1038fs)
|
rs1597865625
|
|
NM_007294.4(BRCA1):c.3136del (p.Glu1046fs)
|
|
|
NM_007294.4(BRCA1):c.3143del (p.Gly1048fs)
|
rs886040100
|
|
NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter)
|
rs786203587
|
|
NM_007294.4(BRCA1):c.3166del (p.Ser1056fs)
|
|
|
NM_007294.4(BRCA1):c.3176_3177del (p.Asn1059fs)
|
rs2154338498
|
|
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.3205del (p.Gln1069fs)
|
rs886040103
|
|
NM_007294.4(BRCA1):c.3210del (p.Glu1071fs)
|
|
|
NM_007294.4(BRCA1):c.3214del (p.Glu1071_Leu1072insTer)
|
rs80357923
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3235A>T (p.Lys1079Ter)
|
|
|
NM_007294.4(BRCA1):c.323del (p.Ala108fs)
|
rs1597897136
|
|
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs)
|
rs80357624
|
|
NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)
|
rs80357858
|
|
NM_007294.4(BRCA1):c.3260_3261insCTA (p.Gly1087_Val1088insTer)
|
rs1597864731
|
|
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter)
|
rs80357402
|
|
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
|
rs397509050
|
|
NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter)
|
rs886040111
|
|
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)
|
rs397509051
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
NM_007294.4(BRCA1):c.3286_3289del (p.Gln1096fs)
|
rs2154331547
|
|
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
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.329_330del (p.Lys110fs)
|
rs80357754
|
|
NM_007294.4(BRCA1):c.329del (p.Lys110fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3301dup (p.Ser1101fs)
|
|
|
NM_007294.4(BRCA1):c.3302_3305del (p.Ser1101fs)
|
rs1555587992
|
|
NM_007294.4(BRCA1):c.3304_3307del (p.Asn1102fs)
|
rs1597864491
|
|
NM_007294.4(BRCA1):c.3317del (p.Pro1106fs)
|
rs1555587972
|
|
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)
|
rs80357106
|
|
NM_007294.4(BRCA1):c.331G>T (p.Glu111Ter)
|
|
|
NM_007294.4(BRCA1):c.3323_3324del (p.Ile1108fs)
|
rs786202791
|
|
NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3327_3330del (p.Lys1109fs)
|
|
|
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs)
|
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.3337dup (p.Tyr1113fs)
|
rs1567792067
|
|
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)
|
rs397509058
|
|
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)
|
rs80357785
|
|
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)
|
rs397507215
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs)
|
rs80357843
|
|
NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer)
|
rs2154323689
|
|
NM_007294.4(BRCA1):c.335_338del (p.Asn112fs)
|
rs587782666
|
|
NM_007294.4(BRCA1):c.3362del (p.Asn1121fs)
|
rs80357865
|
|
NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs)
|
rs80357892
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
NM_007294.4(BRCA1):c.3388del (p.Ser1130fs)
|
rs886040123
|
|
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.3424del (p.Ala1142fs)
|
rs1555587718
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3440_3441del (p.Cys1146_Ser1147insTer)
|
rs1597863644
|
|
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)
|
rs80357808
|
|
NM_007294.4(BRCA1):c.3455del (p.Asp1152fs)
|
rs1597863566
|
|
NM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter)
|
rs886040130
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter)
|
rs397509072
|
|
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.3478_3487del (p.Lys1160fs)
|
rs786203694
|
|
NM_007294.4(BRCA1):c.3479dup (p.Glu1161fs)
|
rs273899707
|
|
NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter)
|
rs786203438
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3484del (p.Asp1162fs)
|
|
|
NM_007294.4(BRCA1):c.349dup (p.His117fs)
|
|
|
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)
|
rs730882164
|
|
NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter)
|
rs397509079
|
|
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)
|
rs80357296
|
|
NM_007294.4(BRCA1):c.3548_3552del (p.Lys1183fs)
|
rs2154303812
|
|
NM_007294.4(BRCA1):c.3550G>T (p.Gly1184Ter)
|
|
|
NM_007294.4(BRCA1):c.3569del (p.Pro1190fs)
|
rs1555587497
|
|
NM_007294.4(BRCA1):c.3578dup (p.Thr1194fs)
|
rs397509083
|
|
NM_007294.4(BRCA1):c.3579_3580insT (p.Thr1194fs)
|
rs587782824
|
|
NM_007294.4(BRCA1):c.3582_3589del (p.His1195fs)
|
rs886040146
|
|
NM_007294.4(BRCA1):c.3590_3591dup (p.Leu1198fs)
|
|
|
NM_007294.4(BRCA1):c.3592_3593dup (p.Leu1198fs)
|
rs80357562
|
|
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.3626T>G (p.Leu1209Ter)
|
rs786203884
|
|
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3633del (p.Ser1212fs)
|
|
|
NM_007294.4(BRCA1):c.3637del (p.Glu1213fs)
|
rs1555587365
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3640_3644del (p.Glu1214fs)
|
rs1555587356
|
|
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)
|
rs80357805
|
|
NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter)
|
rs397509091
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3658del (p.Asp1220fs)
|
rs786202963
|
|
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.3679C>T (p.Gln1227Ter)
|
rs886040159
|
|
NM_007294.4(BRCA1):c.3679del (p.Gln1227fs)
|
rs2154295200
|
|
NM_007294.4(BRCA1):c.3683del (p.His1228fs)
|
rs397507217
|
|
NM_007294.4(BRCA1):c.3689T>A (p.Leu1230Ter)
|
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
NM_007294.4(BRCA1):c.3706_3707del (p.Asn1236fs)
|
rs80357666
|
|
NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs)
|
rs80357552
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3711_3712del (p.Pro1238fs)
|
rs1597861891
|
|
NM_007294.4(BRCA1):c.3713del (p.Pro1238fs)
|
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs)
|
rs80359882
|
|
NM_007294.4(BRCA1):c.3734del (p.Ser1245fs)
|
rs1597861739
|
|
NM_007294.4(BRCA1):c.3747dup (p.Glu1250fs)
|
rs1555587185
|
|
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.3761_3762insTT (p.Lys1254fs)
|
rs80357928
|
|
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
|
rs80357848
|
|
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs)
|
rs730881440
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs)
|
rs397507218
|
|
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter)
|
rs397509105
|
|
NM_007294.4(BRCA1):c.3779del (p.Leu1260fs)
|
rs80357798
|
|
NM_007294.4(BRCA1):c.3782T>A (p.Leu1261Ter)
|
rs397507219
|
|
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
|
rs80357545
|
|
NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter)
|
rs80357269
|
|
NM_007294.4(BRCA1):c.3791del (p.Lys1264fs)
|
rs1567790067
|
|
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)
|
rs80357530
|
|
NM_007294.4(BRCA1):c.3810C>A (p.Cys1270Ter)
|
rs886040166
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
NM_007294.4(BRCA1):c.3825del (p.Leu1276fs)
|
rs1555586983
|
|
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs)
|
rs1135401868
|
|
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.3844G>T (p.Glu1282Ter)
|
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
|
rs80357254
|
|
NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs)
|
rs80357918
|
|
NM_007294.4(BRCA1):c.3870_3877del (p.Lys1290fs)
|
rs1555586879
|
|
NM_007294.4(BRCA1):c.3870del (p.Lys1290fs)
|
|
|
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)
|
rs587780802
|
|
NM_007294.4(BRCA1):c.3882del (p.Leu1295fs)
|
rs2053505662
|
|
NM_007294.4(BRCA1):c.3888_3889del (p.Ser1297fs)
|
rs886038027
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)
|
rs80357038
|
|
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)
|
rs1064793054
|
|
NM_007294.4(BRCA1):c.3900C>A (p.Cys1300Ter)
|
|
|
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer)
|
rs80357646
|
|
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)
|
rs80357461
|
|
NM_007294.4(BRCA1):c.3908dup (p.Leu1303fs)
|
rs80357634
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3910G>T (p.Glu1304Ter)
|
rs886038028
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)
|
rs80357207
|
|
NM_007294.4(BRCA1):c.3931_3934dup (p.Thr1312fs)
|
rs80357864
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
NM_007294.4(BRCA1):c.3954dup (p.Gly1319fs)
|
rs1135401870
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3967del (p.Gln1323fs)
|
rs397509122
|
|
NM_007294.4(BRCA1):c.3968_3971del (p.Gln1323fs)
|
rs886040181
|
|
NM_007294.4(BRCA1):c.3969_3970del (p.Gln1323fs)
|
rs587782834
|
|
NM_007294.4(BRCA1):c.3973del (p.Arg1325fs)
|
rs80357904
|
|
NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter)
|
rs876659720
|
|
NM_007294.4(BRCA1):c.3979del (p.Gln1327fs)
|
|
|
NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)
|
rs397507224
|
|
NM_007294.4(BRCA1):c.3995_4001del (p.Gly1332fs)
|
rs886040185
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4002_4004delinsGC (p.Leu1335fs)
|
|
|
NM_007294.4(BRCA1):c.4008dup (p.Asp1337Ter)
|
rs2053486046
|
|
NM_007294.4(BRCA1):c.4012A>T (p.Lys1338Ter)
|
|
|
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)
|
rs80357021
|
|
NM_007294.4(BRCA1):c.4016_4017insTT (p.Glu1339fs)
|
rs886040187
|
|
NM_007294.4(BRCA1):c.4019T>A (p.Leu1340Ter)
|
rs2053483708
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4038_4041del (p.Arg1347fs)
|
rs431825404
|
|
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.4052_4053insA (p.Glu1352fs)
|
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4054del (p.Glu1352fs)
|
|
|
NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter)
|
rs80357178
|
|
NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)
|
rs397509133
|
|
NM_007294.4(BRCA1):c.4061_4064del (p.Asn1354fs)
|
rs1597859595
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)
|
rs886040193
|
|
NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)
|
rs886040195
|
|
NM_007294.4(BRCA1):c.406del (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.406dup (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.4071del (p.Glu1358fs)
|
rs886040197
|
|
NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter)
|
rs397509136
|
|
NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter)
|
rs80357456
|
|
NM_007294.4(BRCA1):c.4075_4085dup (p.Ser1363fs)
|
|
|
NM_007294.4(BRCA1):c.4088C>A (p.Ser1363Ter)
|
rs398122680
|
|
NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter)
|
rs398122680
|
|
NM_007294.4(BRCA1):c.4099G>T (p.Glu1367Ter)
|
rs786202998
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer)
|
rs80357804
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.411dup (p.Leu138fs)
|
rs886040205
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter)
|
rs80357397
|
|
NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs)
|
rs80357921
|
|
NM_007294.4(BRCA1):c.4136_4137del (p.Val1378_Ser1379insTer)
|
rs397509141
|
|
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)
|
rs80357071
|
|
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs)
|
rs397509142
|
|
NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter)
|
rs80357372
|
|
NM_007294.4(BRCA1):c.415_416del (p.Gln139fs)
|
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4161_4162dup (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter)
|
rs876660601
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.416dup (p.Ser140fs)
|
rs786203432
|
|
NM_007294.4(BRCA1):c.4175del (p.Ile1391_Leu1392insTer)
|
rs886040211
|
|
NM_007294.4(BRCA1):c.4182_4183dup (p.Gln1395fs)
|
rs80357742
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+1G>A
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+1G>T
|
rs80358076
|
|
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.4186-1676_4484+839dup
|
|
|
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)
|
rs80357011
|
|
NM_007294.4(BRCA1):c.4191_4213dup (p.Ile1405delinsArgIleProCysAsnIleThrTer)
|
|
|
NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)
|
rs80357649
|
|
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)
|
rs397509151
|
|
NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer)
|
rs80357765
|
|
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
|
rs886040218
|
|
NM_007294.4(BRCA1):c.4250del (p.Val1417fs)
|
rs587782879
|
|
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.4266del (p.Ser1423fs)
|
rs397509158
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4282del (p.Ser1428fs)
|
rs1555584125
|
|
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)
|
rs80357790
|
|
NM_007294.4(BRCA1):c.4308_4309del (p.Ser1437fs)
|
rs2154149764
|
|
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs)
|
rs80357748
|
|
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.4354A>T (p.Lys1452Ter)
|
rs398122685
|
|
NM_007294.4(BRCA1):c.4357+1G>C
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1del
|
rs397509165
|
|
NM_007294.4(BRCA1):c.4357+2T>G
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4358-1746_4986+736dup
|
|
|
NM_007294.4(BRCA1):c.4359del (p.Val1454fs)
|
|
|
NM_007294.4(BRCA1):c.4364del (p.Val1454_Leu1455insTer)
|
|
|
NM_007294.4(BRCA1):c.4365_4369del (p.Leu1455fs)
|
|
|
NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter)
|
rs80357130
|
|
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)
|
rs80356932
|
|
NM_007294.4(BRCA1):c.4379del (p.Ser1460fs)
|
rs786203149
|
|
NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter)
|
rs1567779838
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
NM_007294.4(BRCA1):c.4387del (p.Tyr1463fs)
|
rs397507229
|
|
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.4389C>G (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.4400_4418delinsTTT (p.Gln1467fs)
|
rs876659310
|
|
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs)
|
rs587781611
|
|
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)
|
rs886040230
|
|
NM_007294.4(BRCA1):c.441+1729_547+704dup
|
|
|
NM_007294.4(BRCA1):c.4410dup (p.Gly1471fs)
|
rs1597839379
|
|
NM_007294.4(BRCA1):c.4416_4417delinsG (p.Ser1473fs)
|
rs397509174
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
NM_007294.4(BRCA1):c.4432G>T (p.Glu1478Ter)
|
rs876659878
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-1G>T
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4486del (p.Ser1496fs)
|
rs1555582082
|
|
NM_007294.4(BRCA1):c.4505del (p.Pro1502fs)
|
rs1555582069
|
|
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.4527C>G (p.Tyr1509Ter)
|
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter)
|
rs80356881
|
|
NM_007294.4(BRCA1):c.4562del (p.Asn1521fs)
|
|
|
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs)
|
rs80357882
|
|
NM_007294.4(BRCA1):c.456del (p.Ser153fs)
|
rs876659830
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4595_4596insCT (p.Asp1533fs)
|
rs80357699
|
|
NM_007294.4(BRCA1):c.45del (p.Asn16fs)
|
rs730881457
|
|
NM_007294.4(BRCA1):c.4608del (p.Glu1536fs)
|
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
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.4616dup (p.Glu1540fs)
|
rs1555581874
|
|
NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter)
|
rs80357277
|
|
NM_007294.4(BRCA1):c.4622_4623del (p.Glu1541fs)
|
rs886040241
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)
|
rs2153992821
|
|
NM_007294.4(BRCA1):c.4654_4673del (p.Tyr1552fs)
|
rs876659293
|
|
NM_007294.4(BRCA1):c.4654del (p.Tyr1552fs)
|
rs2153991069
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.4655dup (p.Tyr1552Ter)
|
rs587782143
|
|
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)
|
rs80357151
|
|
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
|
rs2052588740
|
|
NM_007294.4(BRCA1):c.465del (p.Gln155fs)
|
rs1555594954
|
|
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)
|
rs1555581812
|
|
NM_007294.4(BRCA1):c.4672del (p.Asp1557_Leu1558insTer)
|
rs1597835688
|
|
NM_007294.4(BRCA1):c.4674dup (p.Glu1559fs)
|
rs2052585246
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+1G>T
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+2T>C
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs)
|
rs1555581104
|
|
NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)
|
rs1597831850
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4710_4740dup (p.Glu1581delinsLeuLeuTer)
|
rs2153881466
|
|
NM_007294.4(BRCA1):c.4715_4716del (p.Phe1571_Ser1572insTer)
|
rs2153889881
|
|
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)
|
rs397509191
|
|
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)
|
rs80357907
|
|
NM_007294.4(BRCA1):c.474_493dup (p.Leu165delinsProLeuGluLeuTer)
|
|
|
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
|
rs80357837
|
|
NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter)
|
rs397509195
|
|
NM_007294.4(BRCA1):c.4775_4779delinsC (p.Asn1592fs)
|
rs397507237
|
|
NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter)
|
rs80357429
|
|
NM_007294.4(BRCA1):c.4799dup (p.Leu1600fs)
|
rs587782392
|
|
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)
|
rs80357303
|
|
NM_007294.4(BRCA1):c.4803del (p.Val1602fs)
|
rs1555580912
|
|
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)
|
rs80357352
|
|
NM_007294.4(BRCA1):c.4825G>T (p.Glu1609Ter)
|
|
|
NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs)
|
rs1555580854
|
|
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.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
NM_007294.4(BRCA1):c.485_486del (p.Val162fs)
|
rs80357708
|
|
NM_007294.4(BRCA1):c.485dup (p.Arg163fs)
|
rs587781427
|
|
NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs)
|
rs1555580773
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter)
|
rs886040251
|
|
NM_007294.4(BRCA1):c.4875T>G (p.Tyr1625Ter)
|
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter)
|
rs200432771
|
|
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.4903dup (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs)
|
rs397509204
|
|
NM_007294.4(BRCA1):c.4912G>T (p.Glu1638Ter)
|
rs2052380758
|
|
NM_007294.4(BRCA1):c.4929del (p.Glu1644fs)
|
|
|
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)
|
rs397509205
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter)
|
rs747694453
|
|
NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs)
|
rs397509207
|
|
NM_007294.4(BRCA1):c.494dup (p.Arg166fs)
|
rs80357762
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)
|
rs80357401
|
|
NM_007294.4(BRCA1):c.4986+2T>A
|
rs397509210
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>C
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-3C>G
|
rs397509213
|
|
NM_007294.4(BRCA1):c.4992dup (p.Val1665fs)
|
|
|
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)
|
rs876658947
|
|
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)
|
rs730882165
|
|
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)
|
rs80357204
|
|
NM_007294.4(BRCA1):c.5027T>G (p.Leu1676Ter)
|
rs786203754
|
|
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.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)
|
|
|
NM_007294.4(BRCA1):c.5052_5053dup (p.Thr1685fs)
|
rs1597825743
|
|
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)
|
rs80356890
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.5059del (p.Val1687fs)
|
rs1555579633
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)
|
rs397507239
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>C
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074+872_5193+2569dup
|
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>C
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5080del (p.Glu1694fs)
|
rs1555578650
|
|
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)
|
rs80357760
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5091_5092dup (p.Glu1698fs)
|
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)
|
rs80357553
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5112del (p.Phe1704_Leu1705insTer)
|
rs397509228
|
|
NM_007294.4(BRCA1):c.5113_5121delinsA (p.Leu1705fs)
|
|
|
NM_007294.4(BRCA1):c.5116G>T (p.Gly1706Ter)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5117del (p.Gly1706fs)
|
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5126del (p.Gly1709fs)
|
rs80357874
|
|
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.5137dup (p.Val1713fs)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5138T>G (p.Val1713Gly)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5138_5139delinsGG (p.Val1713Gly)
|
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5152+1G>A
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>T
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+2T>C
|
rs886040914
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5152+6T>G
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5153-19_5160del
|
|
|
NM_007294.4(BRCA1):c.5153-1G>A
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
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.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5176del (p.Arg1726fs)
|
rs876658478
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)
|
rs80357347
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)
|
rs397507244
|
|
NM_007294.4(BRCA1):c.5193+1G>A
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1G>C
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1G>T
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5193+2dup
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5194-1G>T
|
rs80358173
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile)
|
rs80356957
|
|
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys)
|
rs397509237
|
|
NM_007294.4(BRCA1):c.5202del (p.Phe1734fs)
|
rs876659867
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5209_5248delinsTC (p.Arg1737fs)
|
rs273901753
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213_5278-2753delinsT
|
|
|
NM_007294.4(BRCA1):c.5223del (p.Asn1742fs)
|
rs1597810843
|
|
NM_007294.4(BRCA1):c.5230del (p.Arg1744fs)
|
rs397509240
|
|
NM_007294.4(BRCA1):c.5234dup (p.Asn1745fs)
|
rs886038042
|
|
NM_007294.4(BRCA1):c.5236del (p.His1746fs)
|
rs876659483
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5249dup (p.Arg1751fs)
|
rs879253993
|
|
NM_007294.4(BRCA1):c.5250del (p.Lys1750fs)
|
rs1555576868
|
|
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5255C>A (p.Ala1752Glu)
|
rs80357028
|
|
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)
|
rs80357432
|
|
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)
|
rs397509247
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5269_5273del (p.Asp1757fs)
|
rs786202040
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1G>T
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5278-1G>A
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5289del (p.Gly1763_Leu1764insTer)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5289dup (p.Leu1764fs)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5296dup (p.Ile1766fs)
|
rs1555575732
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)
|
rs587781825
|
|
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)
|
rs80357581
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5328del (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+2T>C
|
rs80358182
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-1G>C
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-1G>T
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-2A>T
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-36_5406+400del
|
rs1555574977
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)
|
rs397509267
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)
|
rs80357219
|
|
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.5353_5354dup (p.Gln1785fs)
|
rs886040293
|
|
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
|
rs786203663
|
|
NM_007294.4(BRCA1):c.5361_5362del (p.Cys1787fs)
|
rs886040294
|
|
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter)
|
rs879255492
|
|
NM_007294.4(BRCA1):c.5406+1G>A
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5406+2T>A
|
rs2051071309
|
|
NM_007294.4(BRCA1):c.5406+4A>G
|
rs397509279
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)
|
rs80357934
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5432_5439del (p.Gln1811fs)
|
|
|
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.5449G>T (p.Glu1817Ter)
|
rs80356868
|
|
NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs)
|
rs397509286
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5467+1_5467+16del
|
rs2152760370
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5467G>T (p.Ala1823Ser)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5474_5481del (p.Gly1825fs)
|
rs730881441
|
|
NM_007294.4(BRCA1):c.5476del (p.Gln1826fs)
|
rs2152575457
|
|
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)
|
rs80357757
|
|
NM_007294.4(BRCA1):c.5490del (p.Pro1831fs)
|
rs80357976
|
|
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
|
rs80357582
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
|
rs80357307
|
|
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5512del (p.Val1838fs)
|
rs80357839
|
|
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
|
rs80357721
|
|
NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs)
|
rs397509294
|
|
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs)
|
rs1060505048
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter)
|
rs886040303
|
|
NM_007294.4(BRCA1):c.5554_5558del (p.Thr1852fs)
|
rs1597796682
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.671-1G>A
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)
|
rs879255319
|
|
NM_007294.4(BRCA1):c.67G>T (p.Glu23Ter)
|
rs372047427
|
|
NM_007294.4(BRCA1):c.67del (p.Glu23fs)
|
|
|
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.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.700del (p.Thr234fs)
|
|
|
NM_007294.4(BRCA1):c.706dup (p.Thr236fs)
|
rs1555593279
|
|
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)
|
rs886040313
|
|
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)
|
rs80357198
|
|
NM_007294.4(BRCA1):c.738dup (p.Asn247fs)
|
rs1597880292
|
|
NM_007294.4(BRCA1):c.754del (p.Arg252fs)
|
rs1555593195
|
|
NM_007294.4(BRCA1):c.75del (p.Ile26fs)
|
rs80357633
|
|
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)
|
rs80357009
|
|
NM_007294.4(BRCA1):c.778A>T (p.Lys260Ter)
|
rs786202263
|
|
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)
|
rs80357321
|
|
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)
|
rs886037979
|
|
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs)
|
rs80357955
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.799dup (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.80+1G>A
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+1G>C
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.80+4A>T
|
rs80358003
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
NM_007294.4(BRCA1):c.80+5G>T
|
rs80358045
|
|
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)
|
rs80357392
|
|
NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)
|
|
|
NM_007294.4(BRCA1):c.81-1794_134+629dup
|
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-1G>T
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2del
|
rs273902791
|
|
NM_007294.4(BRCA1):c.81-9C>G
|
rs80358127
|
|
NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter)
|
rs886040321
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.824_833dup (p.Ala280fs)
|
|
|
NM_007294.4(BRCA1):c.825_828delinsAAT (p.Thr276fs)
|
rs1555593020
|
|
NM_007294.4(BRCA1):c.832dup (p.Thr278fs)
|
rs886040325
|
|
NM_007294.4(BRCA1):c.835del (p.His279fs)
|
rs80357523
|
|
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)
|
rs80357728
|
|
NM_007294.4(BRCA1):c.83del (p.Leu28fs)
|
rs1555599281
|
|
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.850C>T (p.Gln284Ter)
|
rs397509330
|
|
NM_007294.4(BRCA1):c.851_852del (p.Gln284fs)
|
rs80357719
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.875del (p.Leu292fs)
|
rs886037981
|
|
NM_007294.4(BRCA1):c.886del (p.Arg296fs)
|
rs869320786
|
|
NM_007294.4(BRCA1):c.891_896delinsTC (p.Met297fs)
|
rs1064793967
|
|
NM_007294.4(BRCA1):c.892_895dup (p.Val299fs)
|
rs80357806
|
|
NM_007294.4(BRCA1):c.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter)
|
rs397509331
|
|
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)
|
rs397509332
|
|
NM_007294.4(BRCA1):c.904del (p.Ala302fs)
|
rs273903793
|
|
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer)
|
rs397509335
|
|
NM_007294.4(BRCA1):c.923del (p.Ser308fs)
|
rs80357953
|
|
NM_007294.4(BRCA1):c.924del (p.Ser308fs)
|
rs397509336
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter)
|
rs397509338
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
NM_007294.4(BRCA1):c.930del (p.Gln310fs)
|
rs80357689
|
|
NM_007294.4(BRCA1):c.931_934dup (p.Gly312fs)
|
rs1597879048
|
|
NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer)
|
rs398122709
|
|
NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter)
|
rs80357211
|
|
NM_007294.4(BRCA1):c.951del (p.Gln317fs)
|
rs1555592776
|
|
NM_007294.4(BRCA1):c.952_1015del (p.His318fs)
|
rs80359872
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)
|
rs886040335
|
|
NM_007294.4(BRCA1):c.964del (p.Ala322fs)
|
rs273903794
|
|
NM_007294.4(BRCA1):c.979del (p.Thr327fs)
|
rs886040337
|
|
NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter)
|
rs80357066
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs)
|
rs80357775
|
|
NM_007294.4(BRCA1):c.998_1010del (p.Thr333fs)
|
rs1555592676
|
|
NM_015450.3(POT1):c.1021C>T (p.Gln341Ter)
|
|
|
NM_015450.3(POT1):c.1065_1067delinsGG (p.Ala356fs)
|
|
|
NM_015450.3(POT1):c.1065dup (p.Ala356fs)
|
rs1225878757
|
|
NM_015450.3(POT1):c.1107del (p.Ser368_Tyr369insTer)
|
|
|
NM_015450.3(POT1):c.1113del (p.Arg372fs)
|
|
|
NM_015450.3(POT1):c.1135A>T (p.Lys379Ter)
|
|
|
NM_015450.3(POT1):c.1251del (p.Leu418fs)
|
|
|
NM_015450.3(POT1):c.1285C>T (p.Gln429Ter)
|
|
|
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer)
|
rs1795015022
|
|
NM_015450.3(POT1):c.1305del (p.Val436fs)
|
rs1584757180
|
|
NM_015450.3(POT1):c.1322dup (p.Asn441fs)
|
rs1358966427
|
|
NM_015450.3(POT1):c.147del (p.Ile49fs)
|
rs1064794328
|
|
NM_015450.3(POT1):c.1568C>A (p.Ser523Ter)
|
|
|
NM_015450.3(POT1):c.1579del (p.Ser527fs)
|
|
|
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter)
|
rs2116415082
|
|
NM_015450.3(POT1):c.1672dup (p.Tyr558fs)
|
rs2116414744
|
|
NM_015450.3(POT1):c.1682del (p.Asp561fs)
|
|
|
NM_015450.3(POT1):c.177C>A (p.Cys59Ter)
|
|
|
NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer)
|
rs1584777802
|
|
NM_015450.3(POT1):c.254dup (p.Ile86fs)
|
|
|
NM_015450.3(POT1):c.279_280del (p.Gln94fs)
|
rs2116542675
|
|
NM_015450.3(POT1):c.318del (p.Phe106fs)
|
|
|
NM_015450.3(POT1):c.483T>G (p.Tyr161Ter)
|
|
|
NM_015450.3(POT1):c.499C>T (p.Gln167Ter)
|
|
|
NM_015450.3(POT1):c.552G>A (p.Trp184Ter)
|
rs1202302799
|
|
NM_015450.3(POT1):c.631dup (p.His211fs)
|
rs2116525878
|
|
NM_015450.3(POT1):c.691del (p.Arg231fs)
|
|
|
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
|
|
|
NM_015450.3(POT1):c.887del (p.Asn296fs)
|
|
|
NM_015450.3(POT1):c.954_955dup (p.Gly319fs)
|
|
|
NM_016169.4(SUFU):c.1018del (p.Ala340fs)
|
rs2135889203
|
|
NM_016169.4(SUFU):c.1022+1G>A
|
rs587776578
|
|
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
|
|
|
NM_016169.4(SUFU):c.1123del (p.Gln375fs)
|
rs2135930329
|
|
NM_016169.4(SUFU):c.1290G>A (p.Trp430Ter)
|
rs1590084324
|
|
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)
|
rs1554852279
|
|
NM_016169.4(SUFU):c.71del (p.Pro24fs)
|
rs587776579
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)
|
rs1590065940
|
|
NM_016169.4(SUFU):c.846dup (p.Glu283fs)
|
rs1477199832
|
|
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)
|
rs1590066162
|
|
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
|
|
|
NM_017841.4(SDHAF2):c.189dup (p.Glu64fs)
|
|
|
NM_017841.4(SDHAF2):c.199del (p.Arg67fs)
|
rs949388785
|
|
NM_017841.4(SDHAF2):c.201_205dup (p.Arg69fs)
|
rs1590764868
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.233del (p.Gly78fs)
|
|
|
NM_017841.4(SDHAF2):c.267del (p.Phe89fs)
|
rs766035180
|
|
NM_017841.4(SDHAF2):c.267dup (p.Ala90fs)
|
|
|
NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter)
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.362G>A (p.Trp121Ter)
|
rs1862017197
|
|
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter)
|
rs1060499901
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.120dup (p.Ile41fs)
|
|
|
NM_017849.4(TMEM127):c.147_159del (p.Glu50fs)
|
|
|
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter)
|
rs121908818
|
|
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
|
|
|
NM_017849.4(TMEM127):c.202dup (p.Val68fs)
|
rs1684388744
|
|
NM_017849.4(TMEM127):c.224del (p.Val75fs)
|
|
|
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
|
|
|
NM_017849.4(TMEM127):c.245-1G>A
|
|
|
NM_017849.4(TMEM127):c.248del (p.Phe83fs)
|
rs587781773
|
|
NM_017849.4(TMEM127):c.262C>T (p.Gln88Ter)
|
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.328dup (p.Ala110fs)
|
|
|
NM_017849.4(TMEM127):c.397del (p.His133fs)
|
rs1558752379
|
|
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)
|
rs121908814
|
|
NM_017849.4(TMEM127):c.409+1G>T
|
rs121908825
|
|
NM_017849.4(TMEM127):c.415C>T (p.Gln139Ter)
|
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.73A>T (p.Lys25Ter)
|
rs1573977924
|
|
NM_020975.6(RET):c.1010_1017del (p.Glu337fs)
|
|
|
NM_020975.6(RET):c.1471C>T (p.Gln491Ter)
|
rs1397494237
|
|
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)
|
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.1826G>C (p.Cys609Ser)
|
rs77939446
|
|
NM_020975.6(RET):c.1826G>T (p.Cys609Phe)
|
rs77939446
|
|
NM_020975.6(RET):c.1831T>A (p.Cys611Ser)
|
rs377767391
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
NM_020975.6(RET):c.1832G>T (p.Cys611Phe)
|
rs377767397
|
|
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1853G>T (p.Cys618Phe)
|
rs79781594
|
|
NM_020975.6(RET):c.1858T>A (p.Cys620Ser)
|
rs77316810
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1860C>G (p.Cys620Trp)
|
rs79890926
|
|
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)
|
rs377767405
|
|
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)
|
rs377767406
|
|
NM_020975.6(RET):c.1899_1900delinsAA (p.Cys634Ser)
|
|
|
NM_020975.6(RET):c.1900T>A (p.Cys634Ser)
|
rs75076352
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu)
|
rs1588874068
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2041C>T (p.Gln681Ter)
|
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.3031A>T (p.Lys1011Ter)
|
|
|
NM_020975.6(RET):c.3100_3101del (p.Ser1034fs)
|
|
|
NM_020975.6(RET):c.45dup (p.Leu16fs)
|
|
|
NM_020975.6(RET):c.532dup (p.Glu178fs)
|
|
|
NM_020975.6(RET):c.652_653dup (p.Asp219fs)
|
|
|
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)
|
rs2103178097
|
|
NM_024529.5(CDC73):c.1052dup (p.Asn352fs)
|
|
|
NM_024529.5(CDC73):c.1063_1066del (p.Lys355fs)
|
|
|
NM_024529.5(CDC73):c.1171G>T (p.Glu391Ter)
|
|
|
NM_024529.5(CDC73):c.1226_1230del (p.Lys409fs)
|
|
|
NM_024529.5(CDC73):c.1370G>A (p.Trp457Ter)
|
|
|
NM_024529.5(CDC73):c.1480_1481dup (p.Val494_Thr495insTer)
|
|
|
NM_024529.5(CDC73):c.157_173del (p.Glu53fs)
|
|
|
NM_024529.5(CDC73):c.237+1G>A
|
rs794727303
|
|
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)
|
rs121434262
|
|
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)
|
rs1572150469
|
|
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)
|
rs1553278844
|
|
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)
|
rs2103121721
|
|
NM_024529.5(CDC73):c.449_452del (p.Lys150fs)
|
|
|
NM_024529.5(CDC73):c.510del (p.Arg171fs)
|
rs2103123828
|
|
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)
|
rs770439843
|
|
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
|
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
|
|
NM_024529.5(CDC73):c.897del (p.Gly300fs)
|
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)
|
rs1555460682
|
|
NM_024675.3:c.(1684+1_1685-1)_(2748+1_2749-1)dup
|
|
|
NM_024675.3:c.(3113+1_3114-1)_(3201+1_3202-1)dup
|
|
|
NM_024675.3:c.(3201+1_3202-1)_(3350+1_3351-1)dup
|
|
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
rs1967002667
|
|
NM_024675.4(PALB2):c.1004dup (p.Asn335fs)
|
|
|
NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs)
|
rs1555461502
|
|
NM_024675.4(PALB2):c.100del (p.Arg34fs)
|
rs1597101822
|
|
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter)
|
rs45494092
|
|
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter)
|
rs2142428256
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
NM_024675.4(PALB2):c.1031del (p.Asn344fs)
|
rs1485260432
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
rs1060499812
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
NM_024675.4(PALB2):c.103del (p.Leu35fs)
|
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1042del (p.Gln348fs)
|
rs1597097408
|
|
NM_024675.4(PALB2):c.1046del (p.Asn349fs)
|
rs1555461484
|
|
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)
|
rs1060499813
|
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
rs1060502788
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)
|
rs1555461460
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
|
|
|
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)
|
rs1555461472
|
|
NM_024675.4(PALB2):c.1064dup (p.Leu355fs)
|
|
|
NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs)
|
rs2142426807
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs)
|
rs1555461467
|
|
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer)
|
rs1597097182
|
|
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)
|
rs786203399
|
|
NM_024675.4(PALB2):c.1103dup (p.Asn368fs)
|
rs1555461451
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
rs1597097072
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs)
|
|
|
NM_024675.4(PALB2):c.1152del (p.Ala385fs)
|
rs1567221493
|
|
NM_024675.4(PALB2):c.1156del (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.1156dup (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
NM_024675.4(PALB2):c.1168dup (p.Ser390fs)
|
rs1966988658
|
|
NM_024675.4(PALB2):c.1174G>T (p.Glu392Ter)
|
|
|
NM_024675.4(PALB2):c.1174_1189del (p.Glu392fs)
|
|
|
NM_024675.4(PALB2):c.1179dup (p.His394fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1183del (p.Ser395fs)
|
rs1555461415
|
|
NM_024675.4(PALB2):c.1186dup (p.Cys396fs)
|
rs1555461413
|
|
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
|
|
|
NM_024675.4(PALB2):c.118del (p.Arg40fs)
|
rs1597101532
|
|
NM_024675.4(PALB2):c.1190_1191del (p.Thr397fs)
|
rs1555461408
|
|
NM_024675.4(PALB2):c.1191del (p.Val398fs)
|
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
NM_024675.4(PALB2):c.1216del (p.Ala406fs)
|
rs876659741
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
NM_024675.4(PALB2):c.1234del (p.Thr412fs)
|
|
|
NM_024675.4(PALB2):c.1248del (p.Met416fs)
|
rs1966981959
|
|
NM_024675.4(PALB2):c.1257C>A (p.Cys419Ter)
|
|
|
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)
|
rs1555461366
|
|
NM_024675.4(PALB2):c.1285_1288delinsTGA (p.Ile429_Gln430delinsTer)
|
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.1289dup (p.Ser431fs)
|
|
|
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.1317dup (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
rs1555461339
|
|
NM_024675.4(PALB2):c.1349del (p.Asn450fs)
|
rs1597096338
|
|
NM_024675.4(PALB2):c.1352dup (p.Leu451fs)
|
rs1597096326
|
|
NM_024675.4(PALB2):c.1369del (p.Glu457fs)
|
rs2142418150
|
|
NM_024675.4(PALB2):c.136_148del (p.His46fs)
|
rs2142457035
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter)
|
|
|
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter)
|
rs1597096243
|
|
NM_024675.4(PALB2):c.1400del (p.Gly467fs)
|
|
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer)
|
rs1555461295
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)
|
rs876659341
|
|
NM_024675.4(PALB2):c.1426del (p.Arg476fs)
|
rs1184981956
|
|
NM_024675.4(PALB2):c.1427dup (p.Thr477fs)
|
rs2142416277
|
|
NM_024675.4(PALB2):c.1429del (p.Thr477fs)
|
rs1555461287
|
|
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)
|
rs1060502761
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
rs1057520736
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1454_1457del (p.Thr485fs)
|
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs)
|
rs1567220758
|
|
NM_024675.4(PALB2):c.1551del (p.Lys517fs)
|
rs1597095683
|
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
NM_024675.4(PALB2):c.1635del (p.Val546fs)
|
rs1597095394
|
|
NM_024675.4(PALB2):c.163C>T (p.Gln55Ter)
|
rs1064793772
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
|
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
rs1241049372
|
|
NM_024675.4(PALB2):c.1644del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1647_1648del (p.His549fs)
|
rs786201773
|
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
rs1555461178
|
|
NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs)
|
rs2142410052
|
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
rs118203997
|
|
NM_024675.4(PALB2):c.1653del (p.Gln552fs)
|
rs1555461174
|
|
NM_024675.4(PALB2):c.1658_1660delinsCC (p.His553fs)
|
|
|
NM_024675.4(PALB2):c.1660_1666del (p.Glu554fs)
|
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
NM_024675.4(PALB2):c.1671del (p.Phe557fs)
|
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)
|
rs876659354
|
|
NM_024675.4(PALB2):c.1702del (p.Gln568fs)
|
|
|
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1707del (p.Glu570fs)
|
|
|
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.1725G>A (p.Trp575Ter)
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1735_1736dup (p.Tyr580fs)
|
rs2142390444
|
|
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
|
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
rs886039747
|
|
NM_024675.4(PALB2):c.1795del (p.Ser599fs)
|
rs1555460648
|
|
NM_024675.4(PALB2):c.1802_1809dup (p.Leu604fs)
|
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
NM_024675.4(PALB2):c.1836dup (p.Gln613fs)
|
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
NM_024675.4(PALB2):c.185del (p.Asp62fs)
|
|
|
NM_024675.4(PALB2):c.1863del (p.Lys623fs)
|
|
|
NM_024675.4(PALB2):c.1873del (p.Glu625fs)
|
rs1555460609
|
|
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs)
|
rs1597090903
|
|
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter)
|
rs1597090894
|
|
NM_024675.4(PALB2):c.1894G>T (p.Glu632Ter)
|
|
|
NM_024675.4(PALB2):c.1914_1929del (p.Phe638fs)
|
rs786203244
|
|
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)
|
rs1555460592
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter)
|
rs786202439
|
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
rs1555460579
|
|
NM_024675.4(PALB2):c.1946_1949del (p.Lys649fs)
|
rs1597090656
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.1965del (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)
|
rs786204129
|
|
NM_024675.4(PALB2):c.1969G>T (p.Glu657Ter)
|
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs)
|
rs2142384476
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs)
|
rs2142384044
|
|
NM_024675.4(PALB2):c.2002del (p.Met668fs)
|
rs1555460526
|
|
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.2048del (p.His683fs)
|
rs1597090324
|
|
NM_024675.4(PALB2):c.204del (p.Lys68fs)
|
rs1555462031
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)
|
rs749602688
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2092del (p.Leu698fs)
|
rs1060499819
|
|
NM_024675.4(PALB2):c.2099C>G (p.Ser700Ter)
|
rs1597090146
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)
|
rs1597090059
|
|
NM_024675.4(PALB2):c.2142_2143insTAA (p.Asp715Ter)
|
rs876658855
|
|
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)
|
rs515726081
|
|
NM_024675.4(PALB2):c.2156del (p.Pro719fs)
|
rs876660193
|
|
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)
|
rs1555460465
|
|
NM_024675.4(PALB2):c.2161del (p.Thr721fs)
|
rs1597089904
|
|
NM_024675.4(PALB2):c.2173_2174dup (p.Pro726fs)
|
|
|
NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs)
|
rs1555460463
|
|
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
|
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)
|
rs1555460457
|
|
NM_024675.4(PALB2):c.2199_2203del (p.Thr734fs)
|
|
|
NM_024675.4(PALB2):c.2205del (p.Ala736fs)
|
rs587782892
|
|
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)
|
rs1555460442
|
|
NM_024675.4(PALB2):c.2220del (p.Gly741fs)
|
rs1597089741
|
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
rs730881888
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.2241_2245del (p.Thr748fs)
|
|
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
rs1555460431
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.2252del (p.Ala751fs)
|
|
|
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)
|
rs1555460423
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2280del (p.Ala761fs)
|
rs876659697
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)
|
rs876658170
|
|
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
|
|
|
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)
|
rs1597089434
|
|
NM_024675.4(PALB2):c.2310del (p.Ser771fs)
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.232del (p.Val78fs)
|
rs1555461868
|
|
NM_024675.4(PALB2):c.2358dup (p.Thr787fs)
|
rs1597089246
|
|
NM_024675.4(PALB2):c.235del (p.Tyr79fs)
|
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2373del (p.Ser792fs)
|
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)
|
rs587780211
|
|
NM_024675.4(PALB2):c.2391del (p.Gln797fs)
|
rs1555460360
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)
|
rs1966856585
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
|
|
|
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.2479del (p.Thr827fs)
|
rs1597088811
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs)
|
rs876658358
|
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
rs1966855759
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.249del (p.His83fs)
|
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2517_2518del (p.Glu840fs)
|
rs1597088245
|
|
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)
|
rs786203382
|
|
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
|
|
|
NM_024675.4(PALB2):c.2582del (p.Glu860_Leu861insTer)
|
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
rs746604683
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
rs876660678
|
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
rs1555459999
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
|
|
|
NM_024675.4(PALB2):c.2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
NM_024675.4(PALB2):c.264del (p.Asp89fs)
|
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
NM_024675.4(PALB2):c.2686dup (p.Ser896fs)
|
rs1555459954
|
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs)
|
rs587781662
|
|
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.2712del (p.Trp904fs)
|
|
|
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.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)
|
rs180177124
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs)
|
rs1597082866
|
|
NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter)
|
rs876660669
|
|
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs)
|
rs587776418
|
|
NM_024675.4(PALB2):c.2797del (p.Cys933fs)
|
|
|
NM_024675.4(PALB2):c.280G>T (p.Glu94Ter)
|
|
|
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
|
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
NM_024675.4(PALB2):c.2824A>T (p.Arg942Ter)
|
rs757055720
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
NM_024675.4(PALB2):c.2837del (p.Ala946fs)
|
rs1555459599
|
|
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)
|
rs1597081571
|
|
NM_024675.4(PALB2):c.2850del (p.Ser951fs)
|
rs1060499824
|
|
NM_024675.4(PALB2):c.2876dup (p.Leu960fs)
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.2912_2913del (p.Gly971fs)
|
|
|
NM_024675.4(PALB2):c.2915del (p.Leu972fs)
|
rs1555459553
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
NM_024675.4(PALB2):c.2936del (p.Ser979fs)
|
rs1060502781
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2950del (p.Leu984fs)
|
rs1966800194
|
|
NM_024675.4(PALB2):c.2953del (p.Ser985fs)
|
rs1597081202
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)
|
rs1555459528
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)
|
rs1966798806
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
|
|
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)
|
rs1597079941
|
|
NM_024675.4(PALB2):c.3003del (p.Glu1002fs)
|
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
|
|
|
NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
|
|
|
NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
|
|
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
|
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
rs1966771907
|
|
NM_024675.4(PALB2):c.3037_3040delinsGTG (p.Ile1013fs)
|
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
rs2142327117
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
NM_024675.4(PALB2):c.306del (p.Pro104fs)
|
|
|
NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
|
|
|
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
|
|
|
NM_024675.4(PALB2):c.3113+1434_3201+1211dup
|
|
|
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
rs778345761
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs)
|
rs1555458815
|
|
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
rs876658157
|
|
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)
|
rs876658157
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
NM_024675.4(PALB2):c.3170_3175delinsAATCA (p.Ala1057fs)
|
rs1597073266
|
|
NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
|
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)
|
rs786202008
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)
|
rs879254060
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs)
|
rs876658136
|
|
NM_024675.4(PALB2):c.3246dup (p.Glu1083Ter)
|
rs1555458211
|
|
NM_024675.4(PALB2):c.3254T>A (p.Leu1085Ter)
|
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs)
|
rs587781890
|
|
NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs)
|
rs1567206813
|
|
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)
|
rs1555458187
|
|
NM_024675.4(PALB2):c.3311del (p.Gly1104fs)
|
rs1060499828
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
|
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.3395T>A (p.Leu1132Ter)
|
rs1597062296
|
|
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)
|
rs876660492
|
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
rs1555457878
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
rs879254033
|
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
rs1597099523
|
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
rs1555457867
|
|
NM_024675.4(PALB2):c.3453_3459del (p.Pro1152fs)
|
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer)
|
rs2142253220
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter)
|
rs876658695
|
|
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)
|
rs587782050
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
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.3497del (p.Gly1166fs)
|
rs180177138
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.35del (p.Glu12fs)
|
rs876659063
|
|
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)
|
rs1567222943
|
|
NM_024675.4(PALB2):c.404dup (p.Pro135_Ser136insTer)
|
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)
|
rs1555461790
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.466_467del (p.Ile156fs)
|
rs876659405
|
|
NM_024675.4(PALB2):c.472del (p.Gln158fs)
|
|
|
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
|
rs1597099149
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.517_523delinsAAAGGACAG (p.Gly173fs)
|
|
|
NM_024675.4(PALB2):c.519del (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)
|
rs1597098996
|
|
NM_024675.4(PALB2):c.527_531del (p.Leu176fs)
|
rs1597098971
|
|
NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
rs864622280
|
|
NM_024675.4(PALB2):c.544del (p.Ile182fs)
|
rs886039614
|
|
NM_024675.4(PALB2):c.552del (p.Ser184fs)
|
rs1060502738
|
|
NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
|
|
NM_024675.4(PALB2):c.595_596insA (p.Leu199fs)
|
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.606del (p.Lys203fs)
|
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
NM_024675.4(PALB2):c.639del (p.Thr214fs)
|
rs1555461695
|
|
NM_024675.4(PALB2):c.646del (p.Ile216fs)
|
rs1597098679
|
|
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.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
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.712A>T (p.Arg238Ter)
|
rs779278389
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)
|
rs749731838
|
|
NM_024675.4(PALB2):c.745_749del (p.Pro249fs)
|
rs876659326
|
|
NM_024675.4(PALB2):c.753_754del (p.Gln251fs)
|
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
NM_024675.4(PALB2):c.810_828del (p.Ser270fs)
|
rs1555461606
|
|
NM_024675.4(PALB2):c.814G>T (p.Glu272Ter)
|
rs515726127
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
NM_024675.4(PALB2):c.825del (p.His276fs)
|
rs2142433522
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.83del (p.Tyr28fs)
|
|
|
NM_024675.4(PALB2):c.840del (p.Asn280fs)
|
rs1597098094
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
NM_024675.4(PALB2):c.850dup (p.Thr284fs)
|
rs587782232
|
|
NM_024675.4(PALB2):c.854C>G (p.Ser285Ter)
|
rs180177094
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
rs753676934
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.887del (p.Met296fs)
|
rs2142432029
|
|
NM_024675.4(PALB2):c.890_891del (p.Thr297fs)
|
|
|
NM_024675.4(PALB2):c.901_907del (p.Asp301fs)
|
rs1555461551
|
|
NM_024675.4(PALB2):c.903del (p.Asp301fs)
|
|
|
NM_024675.4(PALB2):c.905del (p.Asn302fs)
|
rs1555461553
|
|
NM_024675.4(PALB2):c.905dup (p.Asn302fs)
|
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
NM_024675.4(PALB2):c.952del (p.Ser318fs)
|
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
|
rs2142429230
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter)
|
rs786201808
|
|
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.1039del (p.Lys346_Leu347insTer)
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1043del (p.Lys348fs)
|
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
NM_032043.3(BRIP1):c.1056_1077del (p.Tyr353fs)
|
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
NM_032043.3(BRIP1):c.1082del (p.Asp361fs)
|
rs587781639
|
|
NM_032043.3(BRIP1):c.1098_1102del (p.Cys367fs)
|
rs876660219
|
|
NM_032043.3(BRIP1):c.1113T>A (p.Tyr371Ter)
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.1129del (p.Gln376_Ile377insTer)
|
rs1603343101
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
|
|
|
NM_032043.3(BRIP1):c.1210G>T (p.Glu404Ter)
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
|
|
|
NM_032043.3(BRIP1):c.1230_1251del (p.Thr411fs)
|
rs786202415
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
NM_032043.3(BRIP1):c.1254_1255del (p.Arg419fs)
|
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1292_1304del (p.Arg431fs)
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
NM_032043.3(BRIP1):c.1338del (p.Asn447fs)
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
|
|
|
NM_032043.3(BRIP1):c.1348G>T (p.Glu450Ter)
|
rs2077857156
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
NM_032043.3(BRIP1):c.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.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)
|
rs1603334758
|
|
NM_032043.3(BRIP1):c.1679del (p.Asn560fs)
|
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)
|
rs587778131
|
|
NM_032043.3(BRIP1):c.1736del (p.Arg579fs)
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1853C>G (p.Ser618Ter)
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1958C>G (p.Ser653Ter)
|
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1987dup (p.Thr663fs)
|
rs1603328816
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs)
|
rs1555601094
|
|
NM_032043.3(BRIP1):c.2017C>T (p.Gln673Ter)
|
|
|
NM_032043.3(BRIP1):c.2026dup (p.Val676fs)
|
rs1603328667
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.2039T>A (p.Leu680Ter)
|
|
|
NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs)
|
rs2077534283
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
NM_032043.3(BRIP1):c.2088del (p.Ser697fs)
|
|
|
NM_032043.3(BRIP1):c.2104G>T (p.Glu702Ter)
|
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2138del (p.Leu713fs)
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
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.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
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.2264del (p.Ala755fs)
|
|
|
NM_032043.3(BRIP1):c.2281del (p.Cys761fs)
|
rs1555590521
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
|
|
|
NM_032043.3(BRIP1):c.2330del (p.Arg777fs)
|
rs1064794689
|
|
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_032043.3(BRIP1):c.2446_2447delinsGTCTTCTACCTGGCCT (p.Trp816fs)
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2518_2519del (p.Gly840fs)
|
rs1555574796
|
|
NM_032043.3(BRIP1):c.2519del (p.Gly840fs)
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
|
|
|
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs)
|
rs1603280507
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2595del (p.Gln866fs)
|
rs587781974
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
|
|
|
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter)
|
rs1603366351
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2827_2828del (p.Val943fs)
|
rs1260994999
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2833del (p.Glu945fs)
|
rs876659212
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
NM_032043.3(BRIP1):c.285dup (p.Thr96fs)
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2923G>T (p.Glu975Ter)
|
rs1603275707
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.2997_2998del (p.Arg999fs)
|
rs1603275616
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)
|
rs1555617829
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
|
|
|
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)
|
rs786203890
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
NM_032043.3(BRIP1):c.382_383del (p.Ser128fs)
|
rs1603362725
|
|
NM_032043.3(BRIP1):c.386del (p.Pro129fs)
|
rs876660080
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs)
|
rs1555616206
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)
|
rs786203429
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
|
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
NM_032043.3(BRIP1):c.512dup (p.Arg173fs)
|
rs1603361705
|
|
NM_032043.3(BRIP1):c.535G>T (p.Glu179Ter)
|
rs1555615784
|
|
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
NM_032043.3(BRIP1):c.584_585del (p.Leu195fs)
|
rs1555615743
|
|
NM_032043.3(BRIP1):c.598del (p.Glu200fs)
|
rs1603361587
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.615_616del (p.Ser206fs)
|
rs1603361558
|
|
NM_032043.3(BRIP1):c.616del (p.Ser206fs)
|
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.708dup (p.His237fs)
|
rs1555609298
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
NM_032043.3(BRIP1):c.781dup (p.Arg261fs)
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
NM_032043.3(BRIP1):c.804T>G (p.Tyr268Ter)
|
rs587782514
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.942del (p.His314fs)
|
rs2077993152
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
NM_058195.4(CDKN2A):c.193G>C (p.Gly65Arg)
|
rs2131147969
|
|
NM_058195.4(CDKN2A):c.194-3653G>T
|
rs1800586
|
|
NM_058216.3(RAD51C):c.122del (p.Val41fs)
|
|
|
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)
|
rs1598449660
|
|
NM_058216.3(RAD51C):c.144del (p.Glu49fs)
|
|
|
NM_058216.3(RAD51C):c.145+1G>T
|
rs757128712
|
|
NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs)
|
rs2047940629
|
|
NM_058216.3(RAD51C):c.158del (p.Ser53fs)
|
rs587782533
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)
|
rs587782170
|
|
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)
|
rs1567785872
|
|
NM_058216.3(RAD51C):c.200_203dup (p.Cys68Ter)
|
rs1555593521
|
|
NM_058216.3(RAD51C):c.200_254del (p.Glu67fs)
|
|
|
NM_058216.3(RAD51C):c.213_216del (p.Lys72fs)
|
|
|
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs)
|
rs786202563
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter)
|
rs1555593553
|
|
NM_058216.3(RAD51C):c.225del (p.Arg74_Tyr75insTer)
|
rs1064795774
|
|
NM_058216.3(RAD51C):c.230del (p.Gly77fs)
|
rs1057519355
|
|
NM_058216.3(RAD51C):c.237dup (p.Glu80Ter)
|
|
|
NM_058216.3(RAD51C):c.241_245delinsG (p.Ser81fs)
|
|
|
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)
|
rs2143721294
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.262_263del (p.Leu88fs)
|
|
|
NM_058216.3(RAD51C):c.265G>T (p.Glu89Ter)
|
|
|
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)
|
rs1555593670
|
|
NM_058216.3(RAD51C):c.301dup (p.Ile101fs)
|
|
|
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
|
|
|
NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs)
|
rs1567786509
|
|
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
|
rs2047958236
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.427C>T (p.Gln143Ter)
|
|
|
NM_058216.3(RAD51C):c.432dup (p.Pro145fs)
|
rs1555594590
|
|
NM_058216.3(RAD51C):c.434del (p.Pro145fs)
|
rs1598460116
|
|
NM_058216.3(RAD51C):c.444dup (p.Gly149fs)
|
rs1555594617
|
|
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
|
rs1598460178
|
|
NM_058216.3(RAD51C):c.464dup (p.Val156fs)
|
|
|
NM_058216.3(RAD51C):c.498del (p.Asp167fs)
|
rs746993675
|
|
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)
|
rs587782699
|
|
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)
|
rs587781490
|
|
NM_058216.3(RAD51C):c.519dup (p.Thr174fs)
|
rs1598460710
|
|
NM_058216.3(RAD51C):c.525dup (p.Cys176fs)
|
rs768793789
|
|
NM_058216.3(RAD51C):c.535del (p.His179fs)
|
rs1555594864
|
|
NM_058216.3(RAD51C):c.538del (p.Leu180fs)
|
|
|
NM_058216.3(RAD51C):c.551_554delinsAAG (p.Ala184fs)
|
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs)
|
rs1555594912
|
|
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)
|
rs1330937621
|
|
NM_058216.3(RAD51C):c.615_616del (p.His207fs)
|
|
|
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs)
|
rs876659497
|
|
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.653_654del (p.Glu218fs)
|
rs587782286
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
|
|
|
NM_058216.3(RAD51C):c.795del (p.Ala266fs)
|
rs2143853617
|
|
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
|
|
|
NM_058216.3(RAD51C):c.821del (p.Asn274fs)
|
rs1466185247
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
NM_058216.3(RAD51C):c.851_854dup (p.Met286fs)
|
rs1060502605
|
|
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)
|
rs1598504016
|
|
NM_058216.3(RAD51C):c.865_866del (p.Lys289fs)
|
|
|
NM_058216.3(RAD51C):c.878del (p.Asn293fs)
|
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
NM_058216.3(RAD51C):c.910del (p.Ser304fs)
|
rs1555603011
|
|
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)
|
rs2143961567
|
|
NM_058216.3(RAD51C):c.917del (p.Gly306fs)
|
rs2143961536
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
NM_130799.2(MEN1):c.1391_1392ins13 (p.?)
|
|
|
NM_130799.2:c.1430_1431insALU
|
|
|
NM_144997.7(FLCN):c.1014del (p.Trp338fs)
|
rs1131690830
|
|
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter)
|
rs2144894376
|
|
NM_144997.7(FLCN):c.1021del (p.Arg341fs)
|
rs1060502368
|
|
NM_144997.7(FLCN):c.1024_1026delinsGAGCTGGCAGCCCCGGAAT (p.Lys342fs)
|
|
|
NM_144997.7(FLCN):c.1029del (p.Pro344fs)
|
|
|
NM_144997.7(FLCN):c.1038dup (p.Lys347fs)
|
|
|
NM_144997.7(FLCN):c.1062+1G>A
|
rs1131690832
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.1063-2A>G
|
rs2144871276
|
|
NM_144997.7(FLCN):c.1098_1102dup (p.Val368fs)
|
rs1131690831
|
|
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)
|
rs398124524
|
|
NM_144997.7(FLCN):c.113del (p.Ser38fs)
|
rs878855212
|
|
NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter)
|
rs2144869206
|
|
NM_144997.7(FLCN):c.1153del (p.Gln385fs)
|
rs1555607960
|
|
NM_144997.7(FLCN):c.1177-2A>G
|
rs1057520528
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.1179del (p.Met394fs)
|
rs398124525
|
|
NM_144997.7(FLCN):c.1188del (p.Val397fs)
|
rs1567809782
|
|
NM_144997.7(FLCN):c.1213dup (p.Tyr405fs)
|
rs1131690837
|
|
NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter)
|
rs786202541
|
|
NM_144997.7(FLCN):c.1219del (p.Ser407fs)
|
rs878855213
|
|
NM_144997.7(FLCN):c.121C>T (p.Gln41Ter)
|
rs1254608489
|
|
NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter)
|
rs748148728
|
|
NM_144997.7(FLCN):c.1252del (p.Leu418fs)
|
rs864622651
|
|
NM_144997.7(FLCN):c.1252dup (p.Leu418fs)
|
|
|
NM_144997.7(FLCN):c.1261dup (p.Ser421fs)
|
|
|
NM_144997.7(FLCN):c.1277_1279delinsAA (p.Ile426fs)
|
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)
|
rs1555607640
|
|
NM_144997.7(FLCN):c.1286dup (p.His429fs)
|
rs879255675
|
|
NM_144997.7(FLCN):c.1293_1300+19del
|
|
|
NM_144997.7(FLCN):c.1300+1G>A
|
rs879255676
|
|
NM_144997.7(FLCN):c.1300G>C (p.Glu434Gln)
|
|
|
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter)
|
rs1266098984
|
|
NM_144997.7(FLCN):c.1302_1303dup (p.Phe435fs)
|
rs1131690829
|
|
NM_144997.7(FLCN):c.1305del (p.Phe435fs)
|
rs398124527
|
|
NM_144997.7(FLCN):c.1309del (p.Val437fs)
|
|
|
NM_144997.7(FLCN):c.1312_1313dup (p.Val439fs)
|
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
|
NM_144997.7(FLCN):c.1352del (p.Pro451fs)
|
rs1131690828
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
NM_144997.7(FLCN):c.1379_1380del (p.Leu460fs)
|
rs1064793128
|
|
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1392dup (p.Phe465fs)
|
|
|
NM_144997.7(FLCN):c.1426dup (p.Asp476fs)
|
rs1131690835
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.1433-1G>T
|
|
|
NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter)
|
rs786202475
|
|
NM_144997.7(FLCN):c.1474_1475delinsG (p.Asn492fs)
|
rs1597578868
|
|
NM_144997.7(FLCN):c.1477C>T (p.Gln493Ter)
|
rs2144832772
|
|
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs)
|
rs879255679
|
|
NM_144997.7(FLCN):c.1487_1495delinsGGACCAGTGGCAC (p.Ser496fs)
|
|
|
NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter)
|
rs886042033
|
|
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)
|
rs879255681
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.1539-2A>G
|
rs878855214
|
|
NM_144997.7(FLCN):c.1584del (p.Glu530fs)
|
rs1131690827
|
|
NM_144997.7(FLCN):c.158del (p.Gln53fs)
|
rs1131690825
|
|
NM_144997.7(FLCN):c.1597_1598del (p.Gln533fs)
|
rs876660810
|
|
NM_144997.7(FLCN):c.1635del (p.Asp545fs)
|
|
|
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter)
|
rs879255684
|
|
NM_144997.7(FLCN):c.17_21del (p.Ala6fs)
|
rs1597618627
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.199del (p.Ala67fs)
|
rs1555611438
|
|
NM_144997.7(FLCN):c.214del (p.Ser72fs)
|
rs1131690824
|
|
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)
|
rs750146811
|
|
NM_144997.7(FLCN):c.237_240dup (p.Met81fs)
|
rs1597617148
|
|
NM_144997.7(FLCN):c.250-1G>A
|
rs786202081
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.260C>A (p.Ser87Ter)
|
|
|
NM_144997.7(FLCN):c.296del (p.Asp99fs)
|
rs398124534
|
|
NM_144997.7(FLCN):c.299_302del (p.Lys100fs)
|
|
|
NM_144997.7(FLCN):c.301G>T (p.Glu101Ter)
|
rs1597613070
|
|
NM_144997.7(FLCN):c.312_316dup (p.Tyr106fs)
|
|
|
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)
|
rs398124535
|
|
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)
|
rs754616167
|
|
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)
|
rs398124536
|
|
NM_144997.7(FLCN):c.347dup (p.Leu117fs)
|
rs776896550
|
|
NM_144997.7(FLCN):c.381dup (p.Ser128fs)
|
rs2145010299
|
|
NM_144997.7(FLCN):c.3del (p.Met1fs)
|
rs1131690838
|
|
NM_144997.7(FLCN):c.412G>T (p.Glu138Ter)
|
rs1597607423
|
|
NM_144997.7(FLCN):c.430G>T (p.Gly144Ter)
|
|
|
NM_144997.7(FLCN):c.44dup (p.Arg17fs)
|
rs1131690839
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs)
|
rs1064792959
|
|
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter)
|
rs876658409
|
|
NM_144997.7(FLCN):c.57_58del (p.Phe20fs)
|
rs2145049426
|
|
NM_144997.7(FLCN):c.584del (p.Gly195fs)
|
rs878855217
|
|
NM_144997.7(FLCN):c.59del (p.Phe20fs)
|
rs876658390
|
|
NM_144997.7(FLCN):c.603_607del (p.Lys203fs)
|
rs1131690836
|
|
NM_144997.7(FLCN):c.617dup (p.Val207fs)
|
|
|
NM_144997.7(FLCN):c.618+1G>A
|
|
|
NM_144997.7(FLCN):c.619-1G>A
|
rs1131690840
|
|
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)
|
rs558699420
|
|
NM_144997.7(FLCN):c.649C>T (p.Gln217Ter)
|
rs1555609899
|
|
NM_144997.7(FLCN):c.658C>T (p.Gln220Ter)
|
|
|
NM_144997.7(FLCN):c.694C>T (p.Gln232Ter)
|
|
|
NM_144997.7(FLCN):c.708del (p.Asn236fs)
|
rs886039369
|
|
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter)
|
rs879255663
|
|
NM_144997.7(FLCN):c.754dup (p.Ala252fs)
|
|
|
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)
|
rs879255664
|
|
NM_144997.7(FLCN):c.779+1G>C
|
rs758175953
|
|
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)
|
rs368778627
|
|
NM_144997.7(FLCN):c.780G>A (p.Trp260Ter)
|
rs1131690826
|
|
NM_144997.7(FLCN):c.802del (p.Arg268fs)
|
|
|
NM_144997.7(FLCN):c.838G>T (p.Glu280Ter)
|
rs1060502367
|
|
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter)
|
rs879255667
|
|
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)
|
rs879255668
|
|
NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)
|
rs1490424623
|
|
NM_144997.7(FLCN):c.889_890del (p.Glu297fs)
|
rs1597592246
|
|
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)
|
rs398124541
|
|
NM_144997.7(FLCN):c.919G>T (p.Glu307Ter)
|
rs932256543
|
|
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)
|
rs398124542
|
|
NM_144997.7(FLCN):c.938del (p.Leu313fs)
|
|
|
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)
|
rs587781952
|
|
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)
|
rs2144896021
|
|
NM_177438.2:c.(734+1_735-1)_(2256+1_2257-1)dup
|
|
|
NM_177438.3(DICER1):c.1006G>T (p.Glu336Ter)
|
|
|
NM_177438.3(DICER1):c.1024del (p.Arg342fs)
|
rs1131691218
|
|
NM_177438.3(DICER1):c.1029dup (p.Phe344fs)
|
rs1555374772
|
|
NM_177438.3(DICER1):c.1052dup (p.Leu352fs)
|
|
|
NM_177438.3(DICER1):c.1125dup (p.Lys376Ter)
|
|
|
NM_177438.3(DICER1):c.1130del (p.Val377fs)
|
|
|
NM_177438.3(DICER1):c.1144G>T (p.Glu382Ter)
|
rs886037667
|
|
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter)
|
rs1131691211
|
|
NM_177438.3(DICER1):c.1185_1187delinsC (p.Glu396fs)
|
rs886037668
|
|
NM_177438.3(DICER1):c.1227T>G (p.Tyr409Ter)
|
|
|
NM_177438.3(DICER1):c.1234del (p.Trp412fs)
|
rs1555374679
|
|
NM_177438.3(DICER1):c.1246G>T (p.Glu416Ter)
|
rs1131691220
|
|
NM_177438.3(DICER1):c.1325dup (p.Leu442fs)
|
rs1131691190
|
|
NM_177438.3(DICER1):c.1329_1344del (p.Cys443fs)
|
rs1595438051
|
|
NM_177438.3(DICER1):c.1356C>G (p.Tyr452Ter)
|
rs1131691219
|
|
NM_177438.3(DICER1):c.1400_1401del (p.Gln467fs)
|
rs1131691203
|
|
NM_177438.3(DICER1):c.1408G>T (p.Glu470Ter)
|
rs886037671
|
|
NM_177438.3(DICER1):c.1434_1435del (p.Ile479fs)
|
|
|
NM_177438.3(DICER1):c.1462dup (p.Gln488fs)
|
rs1131691209
|
|
NM_177438.3(DICER1):c.1501C>T (p.Gln501Ter)
|
rs1595414962
|
|
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)
|
rs137852977
|
|
NM_177438.3(DICER1):c.1509+1G>A
|
|
|
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter)
|
rs886037672
|
|
NM_177438.3(DICER1):c.1532_1533del (p.His511fs)
|
rs1595411687
|
|
NM_177438.3(DICER1):c.1534G>T (p.Glu512Ter)
|
|
|
NM_177438.3(DICER1):c.1684_1685del (p.Met562fs)
|
rs886037674
|
|
NM_177438.3(DICER1):c.1686del (p.Met562fs)
|
rs1595410942
|
|
NM_177438.3(DICER1):c.1726del (p.Thr578fs)
|
rs1555372838
|
|
NM_177438.3(DICER1):c.1732dup (p.Thr578fs)
|
rs1131691193
|
|
NM_177438.3(DICER1):c.1749_1753del (p.Glu583fs)
|
rs1131691232
|
|
NM_177438.3(DICER1):c.1751del (p.Lys584fs)
|
|
|
NM_177438.3(DICER1):c.1787del (p.Thr596fs)
|
rs886037678
|
|
NM_177438.3(DICER1):c.1827_1828insAG (p.Val610fs)
|
rs886037679
|
|
NM_177438.3(DICER1):c.1839del (p.Tyr614fs)
|
rs1131691207
|
|
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter)
|
rs754818927
|
|
NM_177438.3(DICER1):c.1880_1883del (p.Ile627fs)
|
rs886037680
|
|
NM_177438.3(DICER1):c.1907+1G>A
|
rs1131691217
|
|
NM_177438.3(DICER1):c.1910_1911insGA (p.Tyr637Ter)
|
rs886037682
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
|
rs878855246
|
|
NM_177438.3(DICER1):c.2038dup (p.Val680fs)
|
|
|
NM_177438.3(DICER1):c.2040+1G>A
|
rs886037683
|
|
NM_177438.3(DICER1):c.2155del (p.Thr719fs)
|
|
|
NM_177438.3(DICER1):c.2158_2159del (p.Thr719_Val720insTer)
|
rs886037685
|
|
NM_177438.3(DICER1):c.2181_2187dup (p.Asp730delinsPheAlaTer)
|
rs1131691213
|
|
NM_177438.3(DICER1):c.2243_2244delinsAA (p.Cys748Ter)
|
rs886037687
|
|
NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter)
|
rs886037689
|
|
NM_177438.3(DICER1):c.2256+1G>A
|
rs1131691231
|
|
NM_177438.3(DICER1):c.2350G>T (p.Glu784Ter)
|
rs1131691210
|
|
NM_177438.3(DICER1):c.2392dup (p.Thr798fs)
|
rs886037690
|
|
NM_177438.3(DICER1):c.2399del (p.Arg800fs)
|
rs1131691228
|
|
NM_177438.3(DICER1):c.2437-1G>A
|
rs1891616173
|
|
NM_177438.3(DICER1):c.2488G>T (p.Glu830Ter)
|
|
|
NM_177438.3(DICER1):c.2504_2505dup (p.Phe836fs)
|
rs2140025659
|
|
NM_177438.3(DICER1):c.250C>T (p.Gln84Ter)
|
|
|
NM_177438.3(DICER1):c.2529dup (p.Glu844Ter)
|
|
|
NM_177438.3(DICER1):c.256_257del (p.Arg86fs)
|
rs1595466068
|
|
NM_177438.3(DICER1):c.256del (p.Arg86fs)
|
rs1555376375
|
|
NM_177438.3(DICER1):c.2651-2A>G
|
rs1060503596
|
|
NM_177438.3(DICER1):c.2749G>T (p.Glu917Ter)
|
rs886037692
|
|
NM_177438.3(DICER1):c.2759_2760del (p.Phe920fs)
|
|
|
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)
|
rs137852978
|
|
NM_177438.3(DICER1):c.2888_2889del (p.Pro963fs)
|
rs886037695
|
|
NM_177438.3(DICER1):c.2988-1G>T
|
rs1131691192
|
|
NM_177438.3(DICER1):c.3019C>T (p.Gln1007Ter)
|
rs1131691189
|
|
NM_177438.3(DICER1):c.3038del (p.Pro1013fs)
|
|
|
NM_177438.3(DICER1):c.3045_3054del (p.Ser1015fs)
|
rs1595372666
|
|
NM_177438.3(DICER1):c.3073G>T (p.Glu1025Ter)
|
rs1131691225
|
|
NM_177438.3(DICER1):c.3082C>T (p.Gln1028Ter)
|
rs2139994282
|
|
NM_177438.3(DICER1):c.325C>T (p.Gln109Ter)
|
|
|
NM_177438.3(DICER1):c.3268A>T (p.Arg1090Ter)
|
|
|
NM_177438.3(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer)
|
rs886037699
|
|
NM_177438.3(DICER1):c.3300del (p.Lys1100fs)
|
rs886037700
|
|
NM_177438.3(DICER1):c.3300dup (p.Ser1101fs)
|
rs886037700
|
|
NM_177438.3(DICER1):c.3304_3311delinsT (p.Ile1102fs)
|
rs1891190597
|
|
NM_177438.3(DICER1):c.3345dup (p.Ala1116fs)
|
rs1131691215
|
|
NM_177438.3(DICER1):c.3353dup (p.Asn1118fs)
|
|
|
NM_177438.3(DICER1):c.3359_3360insCCAGAACTAATAA (p.Asn1120_Tyr1121insGlnAsnTer)
|
|
|
NM_177438.3(DICER1):c.3402del (p.Gln1135fs)
|
rs1595367266
|
|
NM_177438.3(DICER1):c.3403C>T (p.Gln1135Ter)
|
rs755711684
|
|
NM_177438.3(DICER1):c.3452_3453del (p.Val1151fs)
|
rs1555369632
|
|
NM_177438.3(DICER1):c.3515_3525delinsA (p.Leu1172fs)
|
rs886037701
|
|
NM_177438.3(DICER1):c.3516_3525delinsA (p.Thr1173_Ile1175del)
|
rs1555369579
|
|
NM_177438.3(DICER1):c.3535_3538del (p.Ser1179fs)
|
rs1131691191
|
|
NM_177438.3(DICER1):c.3538_3539del (p.Tyr1180fs)
|
rs886037703
|
|
NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter)
|
rs886037704
|
|
NM_177438.3(DICER1):c.3540C>G (p.Tyr1180Ter)
|
|
|
NM_177438.3(DICER1):c.3540del (p.Ser1179_Tyr1180insTer)
|
|
|
NM_177438.3(DICER1):c.3578del (p.Asn1193fs)
|
|
|
NM_177438.3(DICER1):c.3583_3584del (p.Asp1195fs)
|
rs1595365941
|
|
NM_177438.3(DICER1):c.3589del (p.Cys1197fs)
|
rs886037706
|
|
NM_177438.3(DICER1):c.3630del (p.Val1211fs)
|
|
|
NM_177438.3(DICER1):c.3658C>T (p.Gln1220Ter)
|
rs886037707
|
|
NM_177438.3(DICER1):c.3675C>A (p.Tyr1225Ter)
|
rs184830847
|
|
NM_177438.3(DICER1):c.3675C>G (p.Tyr1225Ter)
|
rs184830847
|
|
NM_177438.3(DICER1):c.3676G>T (p.Glu1226Ter)
|
rs748087536
|
|
NM_177438.3(DICER1):c.3688C>T (p.Gln1230Ter)
|
rs1566767799
|
|
NM_177438.3(DICER1):c.3710_3711del (p.Leu1237fs)
|
|
|
NM_177438.3(DICER1):c.3726C>A (p.Tyr1242Ter)
|
rs886037708
|
|
NM_177438.3(DICER1):c.3726C>G (p.Tyr1242Ter)
|
rs886037708
|
|
NM_177438.3(DICER1):c.3802_3806delinsGAAT (p.Ile1268fs)
|
|
|
NM_177438.3(DICER1):c.3856dup (p.Ser1286fs)
|
|
|
NM_177438.3(DICER1):c.3888_3891del (p.Ile1297fs)
|
rs1595364250
|
|
NM_177438.3(DICER1):c.3902T>A (p.Leu1301Ter)
|
|
|
NM_177438.3(DICER1):c.3989_3990del (p.Tyr1330fs)
|
rs1131691214
|
|
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter)
|
rs878855262
|
|
NM_177438.3(DICER1):c.4007del (p.Pro1336fs)
|
rs1891071442
|
|
NM_177438.3(DICER1):c.4044del (p.Ser1348fs)
|
rs1131691224
|
|
NM_177438.3(DICER1):c.4071dup (p.Arg1358fs)
|
rs1131691216
|
|
NM_177438.3(DICER1):c.4085del (p.Lys1362fs)
|
rs1131691195
|
|
NM_177438.3(DICER1):c.4085dup (p.Lys1363fs)
|
rs1131691195
|
|
NM_177438.3(DICER1):c.408_411del (p.Glu136fs)
|
|
|
NM_177438.3(DICER1):c.4130del (p.Pro1377fs)
|
rs34678453
|
|
NM_177438.3(DICER1):c.4140G>A (p.Trp1380Ter)
|
rs1131691205
|
|
NM_177438.3(DICER1):c.4190G>A (p.Trp1397Ter)
|
rs886037711
|
|
NM_177438.3(DICER1):c.4206+1G>T
|
rs765059994
|
|
NM_177438.3(DICER1):c.4264dup (p.Glu1422fs)
|
rs1131691202
|
|
NM_177438.3(DICER1):c.4285del (p.Trp1429fs)
|
rs1131691222
|
|
NM_177438.3(DICER1):c.4309_4312del (p.Asp1437fs)
|
rs886037712
|
|
NM_177438.3(DICER1):c.4348_4349del (p.Ile1450fs)
|
rs1595341965
|
|
NM_177438.3(DICER1):c.4407_4408del (p.Pro1471fs)
|
rs886037713
|
|
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)
|
rs875989784
|
|
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)
|
rs1131691197
|
|
NM_177438.3(DICER1):c.4533T>A (p.Tyr1511Ter)
|
rs1131691206
|
|
NM_177438.3(DICER1):c.4555del (p.Glu1519fs)
|
rs1131691194
|
|
NM_177438.3(DICER1):c.459dup (p.Val154fs)
|
rs1555375978
|
|
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs)
|
rs886037717
|
|
NM_177438.3(DICER1):c.4621A>T (p.Lys1541Ter)
|
rs886037718
|
|
NM_177438.3(DICER1):c.4636_4638delinsGA (p.Tyr1546fs)
|
rs1595340380
|
|
NM_177438.3(DICER1):c.4637dup (p.Tyr1546Ter)
|
rs1131691221
|
|
NM_177438.3(DICER1):c.4638C>A (p.Tyr1546Ter)
|
rs773822569
|
|
NM_177438.3(DICER1):c.4654C>T (p.Gln1552Ter)
|
rs1131691208
|
|
NM_177438.3(DICER1):c.4657dup (p.Cys1553fs)
|
rs1131691229
|
|
NM_177438.3(DICER1):c.4712T>G (p.Leu1571Ter)
|
|
|
NM_177438.3(DICER1):c.4796_4800delinsT (p.Arg1599fs)
|
|
|
NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter)
|
rs1131691201
|
|
NM_177438.3(DICER1):c.4843_4849dup (p.Leu1617fs)
|
|
|
NM_177438.3(DICER1):c.4853C>A (p.Ser1618Ter)
|
rs377205344
|
|
NM_177438.3(DICER1):c.485_492del (p.Gly162fs)
|
|
|
NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer)
|
rs1131691200
|
|
NM_177438.3(DICER1):c.4933_4942del (p.Pro1645fs)
|
|
|
NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs)
|
rs886037720
|
|
NM_177438.3(DICER1):c.4972del (p.Thr1658fs)
|
|
|
NM_177438.3(DICER1):c.4984del (p.Ile1663fs)
|
rs1131691196
|
|
NM_177438.3(DICER1):c.5013_5017del (p.Lys1671fs)
|
rs1595337717
|
|
NM_177438.3(DICER1):c.5076C>G (p.Tyr1692Ter)
|
|
|
NM_177438.3(DICER1):c.5096-12G>A
|
rs1566750865
|
|
NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter)
|
rs875989780
|
|
NM_177438.3(DICER1):c.5104C>T (p.Gln1702Ter)
|
rs886037723
|
|
NM_177438.3(DICER1):c.5164dup (p.Glu1722fs)
|
|
|
NM_177438.3(DICER1):c.5235del (p.Phe1745fs)
|
rs1131691199
|
|
NM_177438.3(DICER1):c.5299del (p.His1767fs)
|
rs886037727
|
|
NM_177438.3(DICER1):c.535del (p.Ala180fs)
|
rs1555375946
|
|
NM_177438.3(DICER1):c.5397del (p.Glu1800fs)
|
|
|
NM_177438.3(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup)
|
rs1131691223
|
|
NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs)
|
rs1566746106
|
|
NM_177438.3(DICER1):c.5527G>A (p.Glu1843Lys)
|
|
|
NM_177438.3(DICER1):c.556del (p.Tyr186fs)
|
rs1595458724
|
|
NM_177438.3(DICER1):c.559C>T (p.Arg187Ter)
|
rs763801533
|
|
NM_177438.3(DICER1):c.615_618del (p.Thr206fs)
|
|
|
NM_177438.3(DICER1):c.642_643del (p.Cys214_Asp215delinsTer)
|
|
|
NM_177438.3(DICER1):c.66_72del (p.Pro23fs)
|
|
|
NM_177438.3(DICER1):c.787dup (p.Arg263fs)
|
|
|
NM_177438.3(DICER1):c.876_879del (p.Arg293fs)
|
rs1893478668
|
|
NM_177438.3(DICER1):c.877del (p.Arg293fs)
|
rs1131691198
|
|
NM_177438.3(DICER1):c.878_881del (p.Arg293fs)
|
rs886037733
|
|
NM_177438.3(DICER1):c.890dup (p.Leu297fs)
|
|
|
NM_177438.3(DICER1):c.937dup (p.Leu313fs)
|
rs1131691212
|
|
NM_177438.3(DICER1):c.948G>A (p.Trp316Ter)
|
rs2140208028
|
|
NM_177438.3(DICER1):c.948_961del (p.Trp316fs)
|
rs1555374817
|
|