NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)
|
rs80359112
|
0.00010
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
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_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_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
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.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
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.632-3C>G
|
rs568027879
|
0.00001
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
rs876661261
|
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.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.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.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NC_000013.10:g.(?_32889617)_(32899341_?)del
|
|
|
NC_000013.10:g.(?_32889617)_(32900770_?)del
|
|
|
NC_000013.10:g.(?_32889617)_(32903649_?)del
|
|
|
NC_000013.10:g.(?_32889617)_(32905187_?)del
|
|
|
NC_000013.10:g.(?_32890539)_(32890684_?)del
|
|
|
NC_000013.10:g.(?_32890592)_(32890670_?)del
|
|
|
NC_000013.10:g.(?_32890592)_(32893468_?)del
|
|
|
NC_000013.10:g.(?_32890592)_(32905173_?)del
|
|
|
NC_000013.10:g.(?_32890592)_(32929431_?)del
|
|
|
NC_000013.10:g.(?_32893194)_(32915353_?)del
|
|
|
NC_000013.10:g.(?_32893194)_(32921053_?)del
|
|
|
NC_000013.10:g.(?_32899736)_(32913272_?)dup
|
|
|
NC_000013.10:g.(?_32900218)_(32903649_?)del
|
|
|
NC_000013.10:g.(?_32900616)_(32900770_?)del
|
|
|
NC_000013.10:g.(?_32900630)_(32900756_?)del
|
|
|
NC_000013.10:g.(?_32903574)_(32903635_?)del
|
|
|
NC_000013.10:g.(?_32906389)_(32972907_?)del
|
|
|
NC_000013.10:g.(?_32910382)_(32915353_?)del
|
|
|
NC_000013.10:g.(?_32910382)_(32972907_?)del
|
|
|
NC_000013.10:g.(?_32913706)_(32934992_?)dup
|
|
|
NC_000013.10:g.(?_32918675)_(32921053_?)del
|
|
|
NC_000013.10:g.(?_32920958)_(32921039_?)del
|
|
|
NC_000013.10:g.(?_32928978)_(32937690_?)del
|
|
|
NC_000013.10:g.(?_32930545)_(32932086_?)del
|
|
|
NC_000013.10:g.(?_32930545)_(32937690_?)del
|
|
|
NC_000013.10:g.(?_32936534)_(32972907_?)del
|
|
|
NC_000013.10:g.(?_32936640)_(32937690_?)del
|
|
|
NC_000013.10:g.(?_32936842)_32938734del
|
|
|
NC_000013.10:g.(?_32944519)_(32972907_?)del
|
|
|
NC_000013.10:g.(?_32950787)_(32972907_?)del
|
|
|
NC_000013.10:g.(?_32950801)_(32954288_?)del
|
|
|
NC_000013.10:g.(?_32953434)_(32972907_?)del
|
|
|
NC_000013.10:g.(?_32953881)_(32954056_?)del
|
|
|
NC_000013.10:g.(?_32971029)_(32972913_?)del
|
|
|
NC_000013.10:g.32911899_32911900insAlu
|
|
|
NC_000013.11:g.(?_32315480)_(32355308_?)del
|
|
|
NC_000013.11:g.(?_32315480)_(32357949_?)del
|
|
|
NC_000013.11:g.(?_32315480)_(32394953_?)del
|
|
|
NC_000013.11:g.(?_32315480)_(32398770_?)del
|
|
|
NC_000013.11:g.(?_32316422)_(32319325_?)del
|
|
|
NC_000013.11:g.(?_32316422)_(32355288_?)del
|
|
|
NC_000013.11:g.(?_32316455)_(32325190_?)del
|
|
|
NC_000013.11:g.(?_32316455)_(32326288_?)del
|
|
|
NC_000013.11:g.(?_32316455)_(32357935_?)del
|
|
|
NC_000013.11:g.(?_32319057)_(32319345_?)del
|
|
|
NC_000013.11:g.(?_32319286)_(32324350_?)del
|
|
|
NC_000013.11:g.(?_32325056)_(32325204_?)del
|
|
|
NC_000013.11:g.(?_32325056)_(32363553_?)del
|
|
|
NC_000013.11:g.(?_32325070)_(32325190_?)del
|
|
|
NC_000013.11:g.(?_32326081)_(32326633_?)del
|
|
|
NC_000013.11:g.(?_32326081)_(32363553_?)del
|
|
|
NC_000013.11:g.(?_32326095)_(32326619_?)del
|
|
|
NC_000013.11:g.(?_32326095)_(32363539_?)del
|
|
|
NC_000013.11:g.(?_32329437)_(32341202_?)del
|
|
|
NC_000013.11:g.(?_32330899)_(32331050_?)del
|
|
|
NC_000013.11:g.(?_32330899)_(32380165_?)del
|
|
|
NC_000013.11:g.(?_32330913)_(32331036_?)del
|
|
|
NC_000013.11:g.(?_32339892)_(32342875_?)del
|
|
|
NC_000013.11:g.(?_32346807)_(32346916_?)del
|
|
|
NC_000013.11:g.(?_32354841)_(32355308_?)del
|
|
|
NC_000013.11:g.(?_32356408)_(32356629_?)del
|
|
|
NC_000013.11:g.(?_32356422)_(32356615_?)del
|
|
|
NC_000013.11:g.(?_32370382)_(32371120_?)del
|
|
|
NC_000013.11:g.(?_32370382)_(32380165_?)del
|
|
|
NC_000013.11:g.(?_32376650)_(32376811_?)del
|
|
|
NC_000013.11:g.(?_32376664)_(32376797_?)del
|
|
|
NC_000013.11:g.(?_32379297)_(32380165_?)del
|
|
|
NC_000013.11:g.(?_32379311)_(32380151_?)del
|
|
|
NC_000013.11:g.(?_32392886)_(32394725_?)del
|
|
|
NC_000013.11:g.(?_32394669)_(32398770_?)del
|
|
|
NC_000013.11:g.(?_32398142)_(32398770_?)del
|
|
|
NC_000013.11:g.(?_32398142)_(32398790_?)del
|
|
|
NC_000013.11:g.32362524del
|
rs2137576349
|
|
NM_000059.3(BRCA2):c.(?_-1)_67+?del
|
|
|
NM_000059.3(BRCA2):c.-39-?_67+?del
|
|
|
NM_000059.3(BRCA2):c.-39-?_793+?del
|
|
|
NM_000059.3(BRCA2):c.156_157insAlu
|
|
|
NM_000059.3(BRCA2):c.1889_1890delinsGGG (p.Thr630fs)
|
rs1555282150
|
|
NM_000059.3(BRCA2):c.1940_1943delinsTTTA (p.Cys647_Ser648delinsPheTer)
|
rs1555282370
|
|
NM_000059.3(BRCA2):c.2098_2117delinsGCA (p.Leu700fs)
|
rs1555282448
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254fs)
|
rs1555283391
|
|
NM_000059.3(BRCA2):c.4228_4229insA (p.Thr1410Asnfs)
|
rs879255450
|
|
NM_000059.3(BRCA2):c.517-?_631+?del
|
|
|
NM_000059.3(BRCA2):c.533_539delinsGAC (p.Lys178fs)
|
rs1555281044
|
|
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)
|
rs1566232310
|
|
NM_000059.3(BRCA2):c.5794_5800delinsT (p.His1932_Gln1934delinsTer)
|
rs1555284398
|
|
NM_000059.3(BRCA2):c.5998delinsCG (p.Phe2000fs)
|
rs1566233714
|
|
NM_000059.3(BRCA2):c.6292_6301delinsAGG (p.Ser2098fs)
|
rs1566234273
|
|
NM_000059.3(BRCA2):c.68-?_316+?del
|
|
|
NM_000059.3(BRCA2):c.7115_7120delinsGC (p.Ser2372fs)
|
rs1064792962
|
|
NM_000059.3(BRCA2):c.7436-?_7805+?del
|
|
|
NM_000059.3(BRCA2):c.7806-?_8331+?del
|
|
|
NM_000059.3(BRCA2):c.8312del (p.Pro2771fs)
|
rs879255469
|
|
NM_000059.3(BRCA2):c.8633-?_9256+?del
|
|
|
NM_000059.3(BRCA2):c.8756delG
|
rs80359728
|
|
NM_000059.3(BRCA2):c.898_900delinsTT (p.Val300fs)
|
rs1060502385
|
|
NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC
|
rs1566253399
|
|
NM_000059.3(BRCA2):c.9257delG
|
rs1555289496
|
|
NM_000059.3(BRCA2):c.9342_9343insAlu
|
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1010dup (p.Asn337fs)
|
rs2072402499
|
|
NM_000059.4(BRCA2):c.1018G>T (p.Glu340Ter)
|
rs2137466889
|
|
NM_000059.4(BRCA2):c.101_102insT (p.Glu34fs)
|
|
|
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.1041_1053del (p.Gln347fs)
|
|
|
NM_000059.4(BRCA2):c.1048G>T (p.Glu350Ter)
|
rs2072403231
|
|
NM_000059.4(BRCA2):c.1053del (p.Lys351fs)
|
rs886040342
|
|
NM_000059.4(BRCA2):c.1053dup (p.Tyr352fs)
|
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.1072del (p.Val358fs)
|
rs2137467384
|
|
NM_000059.4(BRCA2):c.1083del (p.Asn361fs)
|
|
|
NM_000059.4(BRCA2):c.1087dup (p.Thr363fs)
|
|
|
NM_000059.4(BRCA2):c.1097T>G (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.1115del (p.Asn372fs)
|
rs2072404504
|
|
NM_000059.4(BRCA2):c.1128del (p.Phe376fs)
|
rs80359263
|
|
NM_000059.4(BRCA2):c.1129del (p.Glu377fs)
|
rs2137467912
|
|
NM_000059.4(BRCA2):c.1129dup (p.Glu377fs)
|
rs2137467908
|
|
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.1156del (p.Glu386fs)
|
rs397507262
|
|
NM_000059.4(BRCA2):c.115del (p.Ala39fs)
|
rs397507573
|
|
NM_000059.4(BRCA2):c.1164_1168del (p.Pro389fs)
|
rs886038061
|
|
NM_000059.4(BRCA2):c.1171_1172del (p.Leu391fs)
|
rs2137468353
|
|
NM_000059.4(BRCA2):c.1172del (p.Leu391fs)
|
rs2137468353
|
|
NM_000059.4(BRCA2):c.1180G>T (p.Glu394Ter)
|
rs397507575
|
|
NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter)
|
rs886040347
|
|
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.1192del (p.Gln397_Leu398insTer)
|
rs1060502403
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
NM_000059.4(BRCA2):c.1206del (p.Gly402_Leu403insTer)
|
rs2137468776
|
|
NM_000059.4(BRCA2):c.1208dup (p.Asn404fs)
|
rs2137468789
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.1219_1220insG (p.Gln407fs)
|
|
|
NM_000059.4(BRCA2):c.1225del (p.Glu409fs)
|
rs80359268
|
|
NM_000059.4(BRCA2):c.1228A>T (p.Lys410Ter)
|
rs2137468996
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
NM_000059.4(BRCA2):c.1243_1244insCAAT (p.His415fs)
|
rs2072407464
|
|
NM_000059.4(BRCA2):c.1253C>G (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.1266del (p.Asn422fs)
|
|
|
NM_000059.4(BRCA2):c.1271C>A (p.Ser424Ter)
|
|
|
NM_000059.4(BRCA2):c.1271C>G (p.Ser424Ter)
|
rs1566223138
|
|
NM_000059.4(BRCA2):c.1278del (p.Asp427fs)
|
rs80359274
|
|
NM_000059.4(BRCA2):c.128del (p.Asn43fs)
|
rs80359275
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1303dup (p.Arg435fs)
|
|
|
NM_000059.4(BRCA2):c.1307del (p.Lys436fs)
|
rs80359278
|
|
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.1316_1317dup (p.Leu440fs)
|
rs886040359
|
|
NM_000059.4(BRCA2):c.1321_1324del (p.Thr441fs)
|
rs1064793572
|
|
NM_000059.4(BRCA2):c.1321dup (p.Thr441fs)
|
rs80359281
|
|
NM_000059.4(BRCA2):c.1324del (p.Ser442fs)
|
rs2137470202
|
|
NM_000059.4(BRCA2):c.1325C>A (p.Ser442Ter)
|
rs80358421
|
|
NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter)
|
rs80358421
|
|
NM_000059.4(BRCA2):c.1329del (p.Asn444fs)
|
rs869320781
|
|
NM_000059.4(BRCA2):c.1333dup (p.Ser445fs)
|
rs1555281841
|
|
NM_000059.4(BRCA2):c.1342del (p.Arg448fs)
|
rs1555281849
|
|
NM_000059.4(BRCA2):c.1351_1352del (p.Ser451fs)
|
rs2137470549
|
|
NM_000059.4(BRCA2):c.1354dup (p.Leu452fs)
|
|
|
NM_000059.4(BRCA2):c.1362del (p.Lys454fs)
|
rs80359282
|
|
NM_000059.4(BRCA2):c.1364del (p.Lys454_Ser455insTer)
|
rs2137470678
|
|
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.1369_1389delinsGTAG (p.Lys457fs)
|
|
|
NM_000059.4(BRCA2):c.1370del (p.Lys457fs)
|
rs1593892663
|
|
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)
|
rs587781799
|
|
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.1397_1400del (p.Asn466fs)
|
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.1399_1402del (p.Lys467fs)
|
rs398122726
|
|
NM_000059.4(BRCA2):c.1402A>T (p.Arg468Ter)
|
rs1555281894
|
|
NM_000059.4(BRCA2):c.1403_1406del (p.Arg468fs)
|
rs397507586
|
|
NM_000059.4(BRCA2):c.1404del (p.Asp469fs)
|
rs2137471070
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
NM_000059.4(BRCA2):c.1406_1413del (p.Asp469fs)
|
rs2137471050
|
|
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.1429dup (p.His477fs)
|
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
NM_000059.4(BRCA2):c.1447dup (p.Ala483fs)
|
rs587782611
|
|
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.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1465del (p.Ser489fs)
|
rs1593892953
|
|
NM_000059.4(BRCA2):c.1467_1468del (p.Gly490fs)
|
rs2072414093
|
|
NM_000059.4(BRCA2):c.1467del (p.Gly490fs)
|
|
|
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.1511_1512del (p.Ser504fs)
|
rs80359286
|
|
NM_000059.4(BRCA2):c.1511del (p.Ser504fs)
|
rs1566223748
|
|
NM_000059.4(BRCA2):c.1519A>T (p.Arg507Ter)
|
|
|
NM_000059.4(BRCA2):c.151G>T (p.Glu51Ter)
|
|
|
NM_000059.4(BRCA2):c.1526del (p.Arg509fs)
|
rs2137472353
|
|
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)
|
rs80358438
|
|
NM_000059.4(BRCA2):c.1528_1529del (p.Glu510fs)
|
rs886040372
|
|
NM_000059.4(BRCA2):c.152_167del (p.Glu51fs)
|
rs2138704300
|
|
NM_000059.4(BRCA2):c.1537A>T (p.Lys513Ter)
|
rs1555281938
|
|
NM_000059.4(BRCA2):c.1539del (p.Glu514fs)
|
rs1593893158
|
|
NM_000059.4(BRCA2):c.1541del (p.Glu514fs)
|
|
|
NM_000059.4(BRCA2):c.1547del (p.Phe516fs)
|
rs80359289
|
|
NM_000059.4(BRCA2):c.1547dup (p.Asn517fs)
|
|
|
NM_000059.4(BRCA2):c.1550del (p.Asn517fs)
|
rs1593893206
|
|
NM_000059.4(BRCA2):c.1555del (p.Ser519fs)
|
|
|
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1561del (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1561dup (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1562C>G (p.Ser521Ter)
|
|
|
NM_000059.4(BRCA2):c.1563del (p.Gly522fs)
|
|
|
NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG (p.Lys53delinsAlaGlyArgGlyGlySerArgLeuTer)
|
rs1593882502
|
|
NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAGCACGGTGAAACCCCATCTCTACTAAAAATACAACAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTGAACAT (p.Lys53delinsAlaGlyArgGlyGlySerArgLeuTer)
|
rs2138704192
|
|
NM_000059.4(BRCA2):c.156del (p.His52fs)
|
rs2072285986
|
|
NM_000059.4(BRCA2):c.1570_1571del (p.Met524fs)
|
rs863224824
|
|
NM_000059.4(BRCA2):c.1572_1573insCC (p.Thr525fs)
|
rs1555281956
|
|
NM_000059.4(BRCA2):c.1572del (p.Met524fs)
|
rs397507594
|
|
NM_000059.4(BRCA2):c.1583del (p.Asn528fs)
|
rs2137472869
|
|
NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer)
|
rs1017181748
|
|
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)
|
rs879255325
|
|
NM_000059.4(BRCA2):c.1591A>T (p.Lys531Ter)
|
|
|
NM_000059.4(BRCA2):c.1592_1593del (p.Lys531fs)
|
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.160_161del (p.Asn54fs)
|
rs878853297
|
|
NM_000059.4(BRCA2):c.1617del (p.Leu540fs)
|
rs80359294
|
|
NM_000059.4(BRCA2):c.161del (p.Asn54fs)
|
rs878853297
|
|
NM_000059.4(BRCA2):c.161dup (p.Asn54fs)
|
rs878853297
|
|
NM_000059.4(BRCA2):c.1621G>T (p.Glu541Ter)
|
rs886040378
|
|
NM_000059.4(BRCA2):c.1631_1632del (p.Thr544fs)
|
rs80359295
|
|
NM_000059.4(BRCA2):c.1640C>G (p.Ser547Ter)
|
|
|
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter)
|
rs398122729
|
|
NM_000059.4(BRCA2):c.1654del (p.Ser552fs)
|
rs80359297
|
|
NM_000059.4(BRCA2):c.1660del (p.Cys554fs)
|
|
|
NM_000059.4(BRCA2):c.1661del (p.Cys554fs)
|
|
|
NM_000059.4(BRCA2):c.1668_1671delinsATT (p.Asn556fs)
|
rs483353110
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
NM_000059.4(BRCA2):c.1673_1677del (p.Ile558fs)
|
rs1555282011
|
|
NM_000059.4(BRCA2):c.1674_1680del (p.Ile558fs)
|
rs886040380
|
|
NM_000059.4(BRCA2):c.1679del (p.Asn560fs)
|
|
|
NM_000059.4(BRCA2):c.167del (p.Asn56fs)
|
rs2072286254
|
|
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.1705C>T (p.Gln569Ter)
|
rs397507274
|
|
NM_000059.4(BRCA2):c.1705_1706del (p.Gln569fs)
|
rs886040383
|
|
NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs)
|
rs886040384
|
|
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter)
|
rs201523522
|
|
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer)
|
rs1555280367
|
|
NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)
|
rs397507603
|
|
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.1748del (p.Thr582_Leu583insTer)
|
rs397507605
|
|
NM_000059.4(BRCA2):c.1754del (p.Lys585fs)
|
rs80359301
|
|
NM_000059.4(BRCA2):c.1754dup (p.Lys586fs)
|
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.1761_1762insTA (p.Asn588Ter)
|
rs2137474607
|
|
NM_000059.4(BRCA2):c.1762_1763del (p.Thr587_Asn588insTer)
|
|
|
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.1763del (p.Asn588fs)
|
|
|
NM_000059.4(BRCA2):c.1765_1766del (p.Lys589fs)
|
rs397507606
|
|
NM_000059.4(BRCA2):c.1765_1769del (p.Lys589fs)
|
rs2137474644
|
|
NM_000059.4(BRCA2):c.1766dup (p.Phe590fs)
|
rs2137474660
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)
|
rs1566224293
|
|
NM_000059.4(BRCA2):c.1785_1803del (p.His595fs)
|
rs1555282073
|
|
NM_000059.4(BRCA2):c.1786_1795del (p.Asp596fs)
|
rs1593893831
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1797_1801del (p.Tyr600fs)
|
rs397507607
|
|
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.1800_1801del (p.Tyr600_Lys601delinsTer)
|
rs1135401894
|
|
NM_000059.4(BRCA2):c.1803del (p.Gly602fs)
|
|
|
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter)
|
rs80358466
|
|
NM_000059.4(BRCA2):c.1810A>T (p.Lys604Ter)
|
|
|
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.1829_1830del (p.Lys610fs)
|
rs2137475337
|
|
NM_000059.4(BRCA2):c.1831_1842delinsATCAG (p.Ser611fs)
|
rs1064793898
|
|
NM_000059.4(BRCA2):c.1831del (p.Ser611fs)
|
rs80359311
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
NM_000059.4(BRCA2):c.1833del (p.Glu612fs)
|
rs1064796073
|
|
NM_000059.4(BRCA2):c.1834_1835del (p.Glu612fs)
|
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
NM_000059.4(BRCA2):c.1845_1846del (p.Asn615fs)
|
rs886040393
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1850_1851delinsAG (p.Ser617Ter)
|
rs2137475631
|
|
NM_000059.4(BRCA2):c.1851del (p.Ala618fs)
|
rs2137475653
|
|
NM_000059.4(BRCA2):c.1854delinsAA (p.Gln619fs)
|
rs276174815
|
|
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)
|
rs80358476
|
|
NM_000059.4(BRCA2):c.1864_1865delinsTA (p.Ala622Ter)
|
rs2072424360
|
|
NM_000059.4(BRCA2):c.1876del (p.Glu626fs)
|
|
|
NM_000059.4(BRCA2):c.1887_1893del (p.Thr630fs)
|
rs1555282146
|
|
NM_000059.4(BRCA2):c.1888_1889insAA (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.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1910-1G>A
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1910-2A>G
|
rs1228762581
|
|
NM_000059.4(BRCA2):c.1910-2A>T
|
rs1228762581
|
|
NM_000059.4(BRCA2):c.1913del (p.Leu638fs)
|
rs2137481744
|
|
NM_000059.4(BRCA2):c.1925del (p.Ser642fs)
|
rs1566225794
|
|
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.194del (p.Pro65fs)
|
rs1593882605
|
|
NM_000059.4(BRCA2):c.1958_1964delinsTG (p.Glu653fs)
|
rs1593895871
|
|
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)
|
rs397507617
|
|
NM_000059.4(BRCA2):c.1979dup (p.Thr660_Ser661insTer)
|
|
|
NM_000059.4(BRCA2):c.1982del (p.Ser661fs)
|
rs1060502455
|
|
NM_000059.4(BRCA2):c.1992del (p.Thr665fs)
|
rs1555282390
|
|
NM_000059.4(BRCA2):c.1A>G (p.Met1Val)
|
rs863224464
|
|
NM_000059.4(BRCA2):c.2012del (p.Ser671fs)
|
|
|
NM_000059.4(BRCA2):c.2018_2040del (p.Asn673fs)
|
rs2137482587
|
|
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.2034_2038del (p.Asn679fs)
|
rs879255440
|
|
NM_000059.4(BRCA2):c.2036del (p.Asn679fs)
|
rs80359318
|
|
NM_000059.4(BRCA2):c.203_218del (p.Lys68fs)
|
rs1064792960
|
|
NM_000059.4(BRCA2):c.2047_2050del (p.Ser683fs)
|
rs80359319
|
|
NM_000059.4(BRCA2):c.204del (p.Lys68fs)
|
rs80359320
|
|
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter)
|
|
|
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)
|
rs587782780
|
|
NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter)
|
rs80358485
|
|
NM_000059.4(BRCA2):c.207_210del (p.Ser70fs)
|
rs2138704850
|
|
NM_000059.4(BRCA2):c.2091del (p.Lys697fs)
|
rs431825292
|
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
rs878853559
|
|
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)
|
rs886040403
|
|
NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter)
|
rs1555282449
|
|
NM_000059.4(BRCA2):c.2099T>G (p.Leu700Ter)
|
rs1555282449
|
|
NM_000059.4(BRCA2):c.20_23del (p.Glu7fs)
|
rs397507623
|
|
NM_000059.4(BRCA2):c.20del (p.Glu7fs)
|
rs2138698155
|
|
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.2106del (p.Thr703fs)
|
rs2072450488
|
|
NM_000059.4(BRCA2):c.2107dup (p.Thr703fs)
|
rs2137483340
|
|
NM_000059.4(BRCA2):c.211_212insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAAACCATCTT (p.Tyr71delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
rs2138704781
|
|
NM_000059.4(BRCA2):c.2125_2126del (p.Leu709fs)
|
rs879255441
|
|
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)
|
rs886040405
|
|
NM_000059.4(BRCA2):c.2132dup (p.Cys711fs)
|
|
|
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)
|
rs535547513
|
|
NM_000059.4(BRCA2):c.2134_2137dup (p.Gln713fs)
|
rs2137483571
|
|
NM_000059.4(BRCA2):c.2137C>T (p.Gln713Ter)
|
rs886040407
|
|
NM_000059.4(BRCA2):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000059.4(BRCA2):c.2147del (p.Gln716fs)
|
rs1555282477
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2151_2152del (p.Cys717_Glu718delinsTer)
|
rs878853560
|
|
NM_000059.4(BRCA2):c.2160delinsCAGGAA (p.Pro721fs)
|
rs2072451658
|
|
NM_000059.4(BRCA2):c.2167del (p.Ser723fs)
|
rs2072451752
|
|
NM_000059.4(BRCA2):c.2167dup (p.Ser723fs)
|
rs2072451752
|
|
NM_000059.4(BRCA2):c.2170A>T (p.Lys724Ter)
|
|
|
NM_000059.4(BRCA2):c.2173A>T (p.Lys725Ter)
|
rs431825294
|
|
NM_000059.4(BRCA2):c.2175del (p.Val726fs)
|
rs276174819
|
|
NM_000059.4(BRCA2):c.2175dup (p.Val726fs)
|
rs276174819
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter)
|
rs398122741
|
|
NM_000059.4(BRCA2):c.2189_2193del (p.Lys730fs)
|
|
|
NM_000059.4(BRCA2):c.2204dup (p.Ala736fs)
|
rs2137484206
|
|
NM_000059.4(BRCA2):c.2205del (p.Ala736fs)
|
rs1593896336
|
|
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)
|
rs80359325
|
|
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)
|
rs398122742
|
|
NM_000059.4(BRCA2):c.221del (p.Leu74fs)
|
rs1064793061
|
|
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.2235del (p.Val746fs)
|
rs1060502484
|
|
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.2251dup (p.Thr751fs)
|
rs886040416
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs)
|
rs80359326
|
|
NM_000059.4(BRCA2):c.2260C>T (p.Gln754Ter)
|
|
|
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)
|
rs1057518637
|
|
NM_000059.4(BRCA2):c.2266del (p.Gln756fs)
|
rs886040418
|
|
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.2282_2283del (p.Leu760_Tyr761insTer)
|
rs1555282597
|
|
NM_000059.4(BRCA2):c.2283T>A (p.Tyr761Ter)
|
rs925988904
|
|
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.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.2345del (p.Leu782fs)
|
rs2137485542
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter)
|
rs397507624
|
|
NM_000059.4(BRCA2):c.2372_2381del (p.Ser791fs)
|
rs2137485789
|
|
NM_000059.4(BRCA2):c.2373del (p.Tyr792fs)
|
|
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.237_238insG (p.Ile80fs)
|
rs2138705140
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
NM_000059.4(BRCA2):c.2384C>G (p.Ser795Ter)
|
rs2072456490
|
|
NM_000059.4(BRCA2):c.2399dup (p.Gly800_Asn801insTer)
|
rs886040423
|
|
NM_000059.4(BRCA2):c.2400_2401del (p.Asn801fs)
|
rs1566226658
|
|
NM_000059.4(BRCA2):c.2402_2412del (p.Asn801fs)
|
rs397507625
|
|
NM_000059.4(BRCA2):c.2402_2420del (p.Asn801fs)
|
rs886040923
|
|
NM_000059.4(BRCA2):c.2407dup (p.Tyr803fs)
|
rs2072457050
|
|
NM_000059.4(BRCA2):c.2409T>A (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.240dup (p.Phe81fs)
|
rs2138705179
|
|
NM_000059.4(BRCA2):c.2410G>T (p.Glu804Ter)
|
rs2137486181
|
|
NM_000059.4(BRCA2):c.2414del (p.Ser805fs)
|
|
|
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)
|
rs397507285
|
|
NM_000059.4(BRCA2):c.2435del (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2435dup (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2442del (p.Met815fs)
|
rs397507627
|
|
NM_000059.4(BRCA2):c.2466T>A (p.Cys822Ter)
|
rs2072458139
|
|
NM_000059.4(BRCA2):c.2466del (p.Cys822fs)
|
|
|
NM_000059.4(BRCA2):c.2467del (p.Ala823fs)
|
|
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
rs397507631
|
|
NM_000059.4(BRCA2):c.2471_2476del (p.Leu824_Glu826delinsTer)
|
rs276174823
|
|
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)
|
rs886040427
|
|
NM_000059.4(BRCA2):c.2474del (p.Asn825fs)
|
rs1060502437
|
|
NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)
|
rs886040428
|
|
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)
|
rs397507286
|
|
NM_000059.4(BRCA2):c.2489dup (p.Asn830fs)
|
rs2072458625
|
|
NM_000059.4(BRCA2):c.2490_2491insT (p.Val831fs)
|
rs886040430
|
|
NM_000059.4(BRCA2):c.2491_2492insGGCGGGTGGTGGTTGGCGCGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCTGACGCCCGCGGGCCCCAGCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTATAAAAACG (p.Val831fs)
|
rs2137486923
|
|
NM_000059.4(BRCA2):c.2501del (p.Leu834fs)
|
rs876659862
|
|
NM_000059.4(BRCA2):c.2505dup (p.Pro836fs)
|
|
|
NM_000059.4(BRCA2):c.2507del (p.Pro836fs)
|
|
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
rs80358515
|
|
NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter)
|
rs747578057
|
|
NM_000059.4(BRCA2):c.2514dup (p.Tyr839fs)
|
rs886040433
|
|
NM_000059.4(BRCA2):c.2516dup (p.Tyr839Ter)
|
rs1593897122
|
|
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
|
rs80358516
|
|
NM_000059.4(BRCA2):c.2517_2521del (p.Tyr839_Arg841delinsTer)
|
|
|
NM_000059.4(BRCA2):c.2523del (p.Arg841_Val842insTer)
|
|
|
NM_000059.4(BRCA2):c.2535_2538dup (p.Arg847fs)
|
rs2137487491
|
|
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)
|
rs80358518
|
|
NM_000059.4(BRCA2):c.2543del (p.Lys848fs)
|
rs2072459783
|
|
NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter)
|
rs886038075
|
|
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
NM_000059.4(BRCA2):c.256del (p.Gly85_Leu86insTer)
|
rs2138705357
|
|
NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)
|
rs587782361
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2588del (p.Asn863fs)
|
rs80359335
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)
|
rs1060502414
|
|
NM_000059.4(BRCA2):c.2595del (p.Glu866fs)
|
rs483353111
|
|
NM_000059.4(BRCA2):c.2603del (p.Thr868fs)
|
rs276174824
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter)
|
rs397507634
|
|
NM_000059.4(BRCA2):c.2617dup (p.Ile873fs)
|
rs398122748
|
|
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)
|
rs398122749
|
|
NM_000059.4(BRCA2):c.2621_2622insG (p.Val875fs)
|
rs1555282757
|
|
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.263del (p.Leu88fs)
|
rs80359339
|
|
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)
|
rs876658648
|
|
NM_000059.4(BRCA2):c.2644del (p.Leu882fs)
|
rs1555282764
|
|
NM_000059.4(BRCA2):c.2650_2660del (p.Ser884fs)
|
|
|
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.2654del (p.Asp885fs)
|
rs2137488622
|
|
NM_000059.4(BRCA2):c.2657del (p.Asn886fs)
|
rs886040439
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
NM_000059.4(BRCA2):c.2666_2667insC (p.Val891fs)
|
|
|
NM_000059.4(BRCA2):c.2666del (p.Asn889fs)
|
|
|
NM_000059.4(BRCA2):c.2670del (p.Phe890fs)
|
rs1555282786
|
|
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs)
|
rs2072462600
|
|
NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter)
|
rs1555282790
|
|
NM_000059.4(BRCA2):c.2677del (p.Gln893fs)
|
rs879254111
|
|
NM_000059.4(BRCA2):c.2684del (p.Ala895fs)
|
rs80359342
|
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
rs979372317
|
|
NM_000059.4(BRCA2):c.2692_2696del (p.Glu897_Arg898insTer)
|
rs398122752
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
NM_000059.4(BRCA2):c.2711_2714dup (p.Asn905fs)
|
rs2137489159
|
|
NM_000059.4(BRCA2):c.2716dup (p.Thr906fs)
|
rs876659767
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.273C>G (p.Tyr91Ter)
|
rs145988146
|
|
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.274C>T (p.Gln92Ter)
|
rs80358529
|
|
NM_000059.4(BRCA2):c.274del (p.Gln92fs)
|
rs1555280425
|
|
NM_000059.4(BRCA2):c.2755G>T (p.Glu919Ter)
|
rs431825298
|
|
NM_000059.4(BRCA2):c.2758_2759insATGG (p.Pro920fs)
|
rs886040445
|
|
NM_000059.4(BRCA2):c.276dup (p.Ser93fs)
|
rs80359345
|
|
NM_000059.4(BRCA2):c.2773_2775delinsGA (p.Ser925fs)
|
rs2072464513
|
|
NM_000059.4(BRCA2):c.2775del (p.Thr926fs)
|
rs1064793063
|
|
NM_000059.4(BRCA2):c.2786dup (p.Leu929fs)
|
rs80359347
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
NM_000059.4(BRCA2):c.2799_2800del (p.Thr933_Gly934insTer)
|
rs2137490046
|
|
NM_000059.4(BRCA2):c.2801del (p.Gly934fs)
|
rs2137490061
|
|
NM_000059.4(BRCA2):c.2804del (p.Asp935fs)
|
|
|
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.2818C>T (p.Gln940Ter)
|
rs80358532
|
|
NM_000059.4(BRCA2):c.2823del (p.Ser942fs)
|
|
|
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs)
|
rs397507643
|
|
NM_000059.4(BRCA2):c.2833A>T (p.Lys945Ter)
|
rs2072466023
|
|
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.2840T>A (p.Leu947Ter)
|
|
|
NM_000059.4(BRCA2):c.2840del (p.Leu947fs)
|
rs431825300
|
|
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs)
|
rs397507644
|
|
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)
|
rs886040449
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
NM_000059.4(BRCA2):c.2880del (p.Lys960fs)
|
rs886040451
|
|
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)
|
rs80358538
|
|
NM_000059.4(BRCA2):c.2883del (p.Gln961fs)
|
rs1593898028
|
|
NM_000059.4(BRCA2):c.2884_2908del (p.His962fs)
|
rs1555282923
|
|
NM_000059.4(BRCA2):c.2885dup (p.His962fs)
|
rs2137490902
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
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.2926_2927del (p.Ser976fs)
|
rs1593898104
|
|
NM_000059.4(BRCA2):c.293_297del (p.Glu97_Leu98insTer)
|
|
|
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.2958del (p.Asn986fs)
|
rs1593898209
|
|
NM_000059.4(BRCA2):c.2960dup (p.Asn987fs)
|
rs886040455
|
|
NM_000059.4(BRCA2):c.2967_2968insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAATAATGATTAC (p.Met990delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
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.2988_2991dup (p.Gly998fs)
|
|
|
NM_000059.4(BRCA2):c.2988_2997del (p.Leu997fs)
|
|
|
NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)
|
rs80358546
|
|
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)
|
rs397507649
|
|
NM_000059.4(BRCA2):c.2994del (p.Pro999fs)
|
rs2137492046
|
|
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3001dup (p.Ser1001fs)
|
rs886037801
|
|
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.3014_3015dup (p.Gly1006fs)
|
rs397507650
|
|
NM_000059.4(BRCA2):c.3015del (p.Phe1005fs)
|
rs397507650
|
|
NM_000059.4(BRCA2):c.3016G>T (p.Gly1006Ter)
|
rs886038083
|
|
NM_000059.4(BRCA2):c.3038C>G (p.Ser1013Ter)
|
rs2137492443
|
|
NM_000059.4(BRCA2):c.3048_3049dup (p.Ile1017fs)
|
|
|
NM_000059.4(BRCA2):c.3051del (p.Lys1018fs)
|
rs80359367
|
|
NM_000059.4(BRCA2):c.3053dup (p.Leu1019fs)
|
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
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.3071_3074del (p.Ile1024fs)
|
rs2137492872
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
NM_000059.4(BRCA2):c.3077del (p.Lys1026fs)
|
rs1060502475
|
|
NM_000059.4(BRCA2):c.3080_3107del (p.Ser1027fs)
|
rs2072471826
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
NM_000059.4(BRCA2):c.308del (p.Lys102_Leu103insTer)
|
rs1057517572
|
|
NM_000059.4(BRCA2):c.308dup (p.Leu103fs)
|
rs1057517572
|
|
NM_000059.4(BRCA2):c.3094A>T (p.Lys1032Ter)
|
rs1593898563
|
|
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.3110_3111del (p.Gln1037fs)
|
|
|
NM_000059.4(BRCA2):c.3124_3125del (p.Leu1042fs)
|
rs2137493447
|
|
NM_000059.4(BRCA2):c.3125T>A (p.Leu1042Ter)
|
|
|
NM_000059.4(BRCA2):c.3125T>G (p.Leu1042Ter)
|
|
|
NM_000059.4(BRCA2):c.3125dup (p.Leu1042fs)
|
rs2137493447
|
|
NM_000059.4(BRCA2):c.313_314del (p.Leu105fs)
|
rs2138705929
|
|
NM_000059.4(BRCA2):c.3148dup (p.Thr1050fs)
|
rs2137493670
|
|
NM_000059.4(BRCA2):c.314T>A (p.Leu105Ter)
|
rs80358561
|
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
rs80358561
|
|
NM_000059.4(BRCA2):c.314del (p.Asp104_Leu105insTer)
|
rs1593882934
|
|
NM_000059.4(BRCA2):c.316+1G>A
|
rs397507303
|
|
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.316+5G>T
|
|
|
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)
|
rs80359371
|
|
NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs)
|
rs1566227892
|
|
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)
|
rs79728106
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.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.3191C>G (p.Ser1064Ter)
|
rs864622609
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
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.3204_3207del (p.Ser1069fs)
|
rs1555283099
|
|
NM_000059.4(BRCA2):c.3209_3210insTGCATAAAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATACTGTATCTGC (p.Ala1070_His1071insAlaTer)
|
rs2137494197
|
|
NM_000059.4(BRCA2):c.3215T>G (p.Leu1072Ter)
|
rs2072475273
|
|
NM_000059.4(BRCA2):c.3215dup (p.Leu1072fs)
|
rs2072475243
|
|
NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter)
|
rs886040464
|
|
NM_000059.4(BRCA2):c.323del (p.Asn108fs)
|
|
|
NM_000059.4(BRCA2):c.3241del (p.Cys1081fs)
|
rs1593898992
|
|
NM_000059.4(BRCA2):c.3244A>T (p.Lys1082Ter)
|
rs886040465
|
|
NM_000059.4(BRCA2):c.3251_3254del (p.Ser1084fs)
|
rs2072475980
|
|
NM_000059.4(BRCA2):c.3251del (p.Ser1084fs)
|
|
|
NM_000059.4(BRCA2):c.3257_3258del (p.Ile1086fs)
|
rs876658618
|
|
NM_000059.4(BRCA2):c.3259dup (p.Thr1087fs)
|
rs1593899043
|
|
NM_000059.4(BRCA2):c.3264del (p.Gln1089fs)
|
rs2072476458
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
NM_000059.4(BRCA2):c.3267_3268del (p.Gln1089fs)
|
rs397507661
|
|
NM_000059.4(BRCA2):c.3270del (p.Met1090fs)
|
rs1555283134
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)
|
rs397507663
|
|
NM_000059.4(BRCA2):c.3301del (p.His1101fs)
|
|
|
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)
|
rs397507305
|
|
NM_000059.4(BRCA2):c.3308dup (p.Leu1103fs)
|
rs1555283160
|
|
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.3331del (p.Ile1111fs)
|
rs2072477794
|
|
NM_000059.4(BRCA2):c.3335del (p.Thr1112fs)
|
rs886040470
|
|
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs)
|
rs398122763
|
|
NM_000059.4(BRCA2):c.3343del (p.Ser1115fs)
|
rs1555283184
|
|
NM_000059.4(BRCA2):c.3349del (p.Ile1117fs)
|
rs878853567
|
|
NM_000059.4(BRCA2):c.3351_3352dup (p.Leu1118fs)
|
rs730882134
|
|
NM_000059.4(BRCA2):c.3352_3353del (p.Leu1118fs)
|
rs2137495741
|
|
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>G (p.Ser1121Ter)
|
rs80358579
|
|
NM_000059.4(BRCA2):c.3365del (p.Gly1122fs)
|
rs786202160
|
|
NM_000059.4(BRCA2):c.3378del (p.Glu1126fs)
|
rs2137495970
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.3386dup (p.Phe1130fs)
|
rs431825305
|
|
NM_000059.4(BRCA2):c.3389_3390insG (p.Phe1130fs)
|
rs2137496075
|
|
NM_000059.4(BRCA2):c.3394A>T (p.Lys1132Ter)
|
|
|
NM_000059.4(BRCA2):c.3396del (p.Lys1132fs)
|
rs876658427
|
|
NM_000059.4(BRCA2):c.3396dup (p.Pro1133fs)
|
rs876658427
|
|
NM_000059.4(BRCA2):c.33_34delinsA (p.Phe11fs)
|
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
|
NM_000059.4(BRCA2):c.3422del (p.Thr1141fs)
|
rs879255311
|
|
NM_000059.4(BRCA2):c.342_343del (p.His114fs)
|
rs878853568
|
|
NM_000059.4(BRCA2):c.342dup (p.Lys115Ter)
|
rs1555280845
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3449del (p.Thr1150fs)
|
|
|
NM_000059.4(BRCA2):c.3451_3452del (p.Ile1151fs)
|
rs886040475
|
|
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.3462del (p.Thr1155fs)
|
rs1555283256
|
|
NM_000059.4(BRCA2):c.3465_3466del (p.Thr1155_Ser1156insTer)
|
rs397507671
|
|
NM_000059.4(BRCA2):c.3467del (p.Ser1156fs)
|
|
|
NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter)
|
rs1555283258
|
|
NM_000059.4(BRCA2):c.3478_3481delinsTGAGGA (p.Arg1160_Asp1161delinsTer)
|
rs1064792961
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3487del (p.Asp1163fs)
|
rs397507672
|
|
NM_000059.4(BRCA2):c.3493del (p.His1165fs)
|
|
|
NM_000059.4(BRCA2):c.3496_3499del (p.His1165_Val1166insTer)
|
rs2137497218
|
|
NM_000059.4(BRCA2):c.3497del (p.Val1166fs)
|
rs886040478
|
|
NM_000059.4(BRCA2):c.349_350del (p.Leu117fs)
|
rs1064794115
|
|
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)
|
rs80359387
|
|
NM_000059.4(BRCA2):c.3502dup (p.Met1168fs)
|
rs886040479
|
|
NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)
|
rs80358600
|
|
NM_000059.4(BRCA2):c.351_352del (p.Arg118fs)
|
rs1566218145
|
|
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.3540_3543del (p.Lys1180fs)
|
rs1593899837
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3554_3555del (p.Thr1185fs)
|
rs80359389
|
|
NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs)
|
rs397507675
|
|
NM_000059.4(BRCA2):c.3570del (p.Lys1191fs)
|
rs80359390
|
|
NM_000059.4(BRCA2):c.3584del (p.Leu1195fs)
|
|
|
NM_000059.4(BRCA2):c.3593del (p.Asn1198fs)
|
rs397507677
|
|
NM_000059.4(BRCA2):c.3596_3599del (p.Asp1199fs)
|
rs886040484
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)
|
rs786203359
|
|
NM_000059.4(BRCA2):c.3600dup (p.Asn1201Ter)
|
rs2137498229
|
|
NM_000059.4(BRCA2):c.3628_3629del (p.Thr1209_Asp1210insTer)
|
rs1555283318
|
|
NM_000059.4(BRCA2):c.3635del (p.Asn1212fs)
|
rs1555283322
|
|
NM_000059.4(BRCA2):c.3635dup (p.Asn1212fs)
|
rs1555283322
|
|
NM_000059.4(BRCA2):c.3636_3639del (p.Asn1212fs)
|
rs876659656
|
|
NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter)
|
rs1566228876
|
|
NM_000059.4(BRCA2):c.3637_3641delinsAAGG (p.Glu1213fs)
|
|
|
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs)
|
rs397507678
|
|
NM_000059.4(BRCA2):c.3645_3646delinsTAAAAAG (p.Phe1216fs)
|
rs397507679
|
|
NM_000059.4(BRCA2):c.3645dup (p.Phe1216fs)
|
rs2137498592
|
|
NM_000059.4(BRCA2):c.3648dup (p.Arg1217Ter)
|
rs2072485514
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
NM_000059.4(BRCA2):c.364del (p.Thr122fs)
|
rs397507680
|
|
NM_000059.4(BRCA2):c.3682_3685del (p.Asn1228fs)
|
rs80359396
|
|
NM_000059.4(BRCA2):c.3683del (p.Asn1228fs)
|
|
|
NM_000059.4(BRCA2):c.3685del (p.Val1229fs)
|
rs80359397
|
|
NM_000059.4(BRCA2):c.3688del (p.Ser1230fs)
|
rs878853573
|
|
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)
|
rs869312759
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
NM_000059.4(BRCA2):c.3696del (p.Ala1233fs)
|
rs1593900255
|
|
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.370dup (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.3729_3732del (p.Asp1243fs)
|
rs2072487346
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
NM_000059.4(BRCA2):c.3742del (p.Ser1248fs)
|
|
|
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.3778_3779del (p.Leu1260fs)
|
rs397507686
|
|
NM_000059.4(BRCA2):c.3779T>A (p.Leu1260Ter)
|
rs1555283397
|
|
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)
|
rs1555283397
|
|
NM_000059.4(BRCA2):c.3779del (p.Leu1260fs)
|
rs397507686
|
|
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter)
|
rs80358620
|
|
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)
|
|
|
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)
|
rs80358622
|
|
NM_000059.4(BRCA2):c.3803_3804del (p.Ser1268fs)
|
|
|
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)
|
rs80358623
|
|
NM_000059.4(BRCA2):c.3823dup (p.Ile1275fs)
|
rs2137500323
|
|
NM_000059.4(BRCA2):c.3824_3825del (p.Ile1275fs)
|
rs1555283411
|
|
NM_000059.4(BRCA2):c.3824_3827dup (p.Glu1276fs)
|
rs397507688
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs)
|
rs886037803
|
|
NM_000059.4(BRCA2):c.3834_3835insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATCAT (p.Asn1279fs)
|
rs2137500351
|
|
NM_000059.4(BRCA2):c.3836del (p.Asn1279fs)
|
rs397507690
|
|
NM_000059.4(BRCA2):c.3836dup (p.Asn1279fs)
|
rs397507690
|
|
NM_000059.4(BRCA2):c.3837del (p.Asn1279fs)
|
rs80359404
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs)
|
rs397507317
|
|
NM_000059.4(BRCA2):c.3853G>T (p.Glu1285Ter)
|
|
|
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_3862insTA (p.Asn1288Ter)
|
rs2072490438
|
|
NM_000059.4(BRCA2):c.3861_3864del (p.Asn1287fs)
|
rs886040500
|
|
NM_000059.4(BRCA2):c.3861_3865del (p.Asn1287fs)
|
rs1555283431
|
|
NM_000059.4(BRCA2):c.3864_3865del (p.Asn1288fs)
|
rs886038098
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
NM_000059.4(BRCA2):c.386del (p.Asp129fs)
|
rs2072334992
|
|
NM_000059.4(BRCA2):c.3870C>A (p.Cys1290Ter)
|
rs1555283445
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
NM_000059.4(BRCA2):c.3880_3884del (p.Leu1294fs)
|
rs1566229335
|
|
NM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter)
|
rs80358632
|
|
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)
|
rs80358632
|
|
NM_000059.4(BRCA2):c.3881del (p.Leu1294fs)
|
rs1064794921
|
|
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)
|
rs879255309
|
|
NM_000059.4(BRCA2):c.3887del (p.Asn1296fs)
|
rs397507695
|
|
NM_000059.4(BRCA2):c.3895del (p.Glu1299fs)
|
rs2137501022
|
|
NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)
|
|
|
NM_000059.4(BRCA2):c.3906del (p.Gly1303fs)
|
rs1555283468
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3919dup (p.Glu1307fs)
|
|
|
NM_000059.4(BRCA2):c.3925del (p.Ile1309fs)
|
|
|
NM_000059.4(BRCA2):c.3928dup (p.Thr1310fs)
|
rs2072491928
|
|
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)
|
rs1555283478
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
NM_000059.4(BRCA2):c.3938dup (p.Tyr1313Ter)
|
rs2137501403
|
|
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.394_398del (p.Cys132fs)
|
|
|
NM_000059.4(BRCA2):c.3957_3958del (p.Asn1319fs)
|
rs886040504
|
|
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.3968_3969del (p.Lys1323fs)
|
rs2137501640
|
|
NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)
|
rs397507320
|
|
NM_000059.4(BRCA2):c.3971del (p.Tyr1324fs)
|
rs1593901067
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.3991dup (p.Ser1331fs)
|
rs2137501848
|
|
NM_000059.4(BRCA2):c.3999_4005del (p.Glu1335fs)
|
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
|
NM_000059.4(BRCA2):c.3G>T (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.4001T>A (p.Leu1334Ter)
|
rs80358652
|
|
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.4013del (p.Gly1338fs)
|
rs397507321
|
|
NM_000059.4(BRCA2):c.4026del (p.Ser1342fs)
|
rs2137502198
|
|
NM_000059.4(BRCA2):c.4030_4034del (p.Asn1344fs)
|
rs1593901208
|
|
NM_000059.4(BRCA2):c.4034del (p.Asp1345fs)
|
|
|
NM_000059.4(BRCA2):c.4036dup (p.Thr1346fs)
|
rs2137502311
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
NM_000059.4(BRCA2):c.4048_4051del (p.His1350fs)
|
rs80359423
|
|
NM_000059.4(BRCA2):c.404_405dup (p.Asn136Ter)
|
rs2137446901
|
|
NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter)
|
rs886040510
|
|
NM_000059.4(BRCA2):c.4057G>T (p.Glu1353Ter)
|
rs2137502511
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
NM_000059.4(BRCA2):c.4070dup (p.Phe1358fs)
|
rs1593901323
|
|
NM_000059.4(BRCA2):c.4074dup (p.Thr1359fs)
|
|
|
NM_000059.4(BRCA2):c.4076del (p.Thr1359fs)
|
rs80359424
|
|
NM_000059.4(BRCA2):c.4078del (p.Asp1360fs)
|
rs2137502698
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter)
|
|
|
NM_000059.4(BRCA2):c.4085del (p.His1362fs)
|
rs431825315
|
|
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.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1367delinsPhePhePhePhePhePhePhePhePhePheGluThrGluSerArgSerValAlaGlnAlaGlyValLeuTrpArgAspLeuArgSerLeuGlnAlaProProSerGlyPheThrProPheSerCysLeuSerLeuProSerSerTrpAspTyrArgArgProProLeuArgProAlaAsnPheLeuTyrPheTer)
|
rs2137502763
|
|
NM_000059.4(BRCA2):c.4099A>T (p.Lys1367Ter)
|
|
|
NM_000059.4(BRCA2):c.4100_4104del (p.Lys1367fs)
|
rs1593901403
|
|
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_4118del (p.Gln1371_Phe1372insTer)
|
|
|
NM_000059.4(BRCA2):c.4117_4118del (p.Met1373fs)
|
rs2137503053
|
|
NM_000059.4(BRCA2):c.4117dup (p.Met1373fs)
|
rs1555283571
|
|
NM_000059.4(BRCA2):c.4124del (p.Glu1375fs)
|
rs886040512
|
|
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.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4132del (p.Thr1378fs)
|
rs2137503221
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
NM_000059.4(BRCA2):c.4134_4135del (p.Gln1379fs)
|
|
|
NM_000059.4(BRCA2):c.4135C>T (p.Gln1379Ter)
|
rs2072497088
|
|
NM_000059.4(BRCA2):c.4135del (p.Gln1379fs)
|
rs1555283588
|
|
NM_000059.4(BRCA2):c.4136dup (p.Ile1380fs)
|
rs397507708
|
|
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.4151T>A (p.Leu1384Ter)
|
rs397507325
|
|
NM_000059.4(BRCA2):c.4151del (p.Leu1384fs)
|
rs397507710
|
|
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)
|
rs886038101
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
NM_000059.4(BRCA2):c.4168_4169del (p.Leu1390fs)
|
rs80359433
|
|
NM_000059.4(BRCA2):c.4169del (p.Leu1390fs)
|
rs80359433
|
|
NM_000059.4(BRCA2):c.4170_4171del (p.Glu1391fs)
|
rs878853579
|
|
NM_000059.4(BRCA2):c.4171dup (p.Glu1391fs)
|
|
|
NM_000059.4(BRCA2):c.4176del (p.Ala1393fs)
|
rs863224825
|
|
NM_000059.4(BRCA2):c.4177dup (p.Ala1393fs)
|
rs876659977
|
|
NM_000059.4(BRCA2):c.4183del (p.Ala1395fs)
|
rs2072498350
|
|
NM_000059.4(BRCA2):c.4185_4221del (p.Gln1396fs)
|
|
|
NM_000059.4(BRCA2):c.4186C>T (p.Gln1396Ter)
|
|
|
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.4208_4212del (p.Thr1403fs)
|
rs2137503987
|
|
NM_000059.4(BRCA2):c.4211C>A (p.Ser1404Ter)
|
rs41293489
|
|
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.4219G>T (p.Glu1407Ter)
|
rs2137504114
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
NM_000059.4(BRCA2):c.4222_4223del (p.Gln1408fs)
|
|
|
NM_000059.4(BRCA2):c.4222dup (p.Gln1408fs)
|
rs2137504163
|
|
NM_000059.4(BRCA2):c.4224_4227del (p.Thr1410fs)
|
rs2072499259
|
|
NM_000059.4(BRCA2):c.4227_4228dup (p.Thr1410fs)
|
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4245del (p.Glu1415fs)
|
rs767234936
|
|
NM_000059.4(BRCA2):c.425+1del
|
rs2137447076
|
|
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs)
|
rs1566229958
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.4266_4267del (p.Glu1422fs)
|
rs1555283667
|
|
NM_000059.4(BRCA2):c.4273del (p.Asp1425fs)
|
rs1060502426
|
|
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.429del (p.Val144fs)
|
rs587781945
|
|
NM_000059.4(BRCA2):c.4304del (p.Asn1435fs)
|
rs886040520
|
|
NM_000059.4(BRCA2):c.4304dup (p.Asn1435fs)
|
|
|
NM_000059.4(BRCA2):c.4306_4307del (p.Asn1435_Ile1436insTer)
|
rs886040522
|
|
NM_000059.4(BRCA2):c.4306del (p.Ile1436fs)
|
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
NM_000059.4(BRCA2):c.4314del (p.Ala1439fs)
|
rs80359441
|
|
NM_000059.4(BRCA2):c.4318A>T (p.Lys1440Ter)
|
rs80358668
|
|
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.4333_4337del (p.Lys1445fs)
|
rs1566230089
|
|
NM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer)
|
rs1555283735
|
|
NM_000059.4(BRCA2):c.4350dup (p.Asp1451Ter)
|
|
|
NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)
|
rs431825319
|
|
NM_000059.4(BRCA2):c.435_444del (p.Leu146fs)
|
rs2072343411
|
|
NM_000059.4(BRCA2):c.4361del (p.Pro1454fs)
|
rs1593902131
|
|
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)
|
rs1566230144
|
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
rs876659847
|
|
NM_000059.4(BRCA2):c.4372del (p.His1458fs)
|
rs2137505618
|
|
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.4397T>A (p.Leu1466Ter)
|
rs886040526
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.4398dup (p.His1467fs)
|
rs1566230215
|
|
NM_000059.4(BRCA2):c.4399del (p.His1467fs)
|
|
|
NM_000059.4(BRCA2):c.4404dup (p.Asp1469Ter)
|
rs886040528
|
|
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.4411dup (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.4416del (p.Asn1473fs)
|
|
|
NM_000059.4(BRCA2):c.4417_4418del (p.Asn1473fs)
|
rs1593902312
|
|
NM_000059.4(BRCA2):c.4419del (p.Asn1473fs)
|
rs1064794337
|
|
NM_000059.4(BRCA2):c.441del (p.Gln147fs)
|
rs886040529
|
|
NM_000059.4(BRCA2):c.4423del (p.Met1475fs)
|
rs80359447
|
|
NM_000059.4(BRCA2):c.4426_4427insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCGGATCACAAGGTCAGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAACAAAATGG (p.Asp1476fs)
|
|
|
NM_000059.4(BRCA2):c.4435_4439del (p.Leu1478_Ser1479insTer)
|
rs2072504199
|
|
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)
|
rs397507719
|
|
NM_000059.4(BRCA2):c.4448_4449del (p.Thr1483fs)
|
rs1566230322
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.444T>A (p.Cys148Ter)
|
rs2137449498
|
|
NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs)
|
rs80359449
|
|
NM_000059.4(BRCA2):c.4458del (p.Lys1487fs)
|
rs886040532
|
|
NM_000059.4(BRCA2):c.4460_4461del (p.Lys1487fs)
|
rs876660026
|
|
NM_000059.4(BRCA2):c.4461dup (p.His1488fs)
|
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.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.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter)
|
|
|
NM_000059.4(BRCA2):c.4519del (p.Gln1507fs)
|
rs431825321
|
|
NM_000059.4(BRCA2):c.451_454dup (p.Thr152fs)
|
|
|
NM_000059.4(BRCA2):c.4524del (p.Gln1509fs)
|
rs2137507240
|
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
rs80358683
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
NM_000059.4(BRCA2):c.4531G>T (p.Glu1511Ter)
|
rs376338226
|
|
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
NM_000059.4(BRCA2):c.4551_4593del (p.Glu1518fs)
|
rs1555283841
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
NM_000059.4(BRCA2):c.4563_4564del (p.Leu1522fs)
|
rs483353115
|
|
NM_000059.4(BRCA2):c.4565T>A (p.Leu1522Ter)
|
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4576dup (p.Thr1526fs)
|
rs886040539
|
|
NM_000059.4(BRCA2):c.4579del (p.Ala1527fs)
|
|
|
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.4593_4594del (p.Lys1531fs)
|
rs2072508654
|
|
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)
|
rs397507731
|
|
NM_000059.4(BRCA2):c.4594_4598del (p.Val1532fs)
|
rs879254138
|
|
NM_000059.4(BRCA2):c.4594del (p.Val1532fs)
|
|
|
NM_000059.4(BRCA2):c.45_46insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATTTTTTGAAATTTTT (p.Lys16delinsPhePhePhePhePheXaaXaaXaaXaaThrLeuLeuAlaArgMetValSerIleSerTer)
|
rs2138698246
|
|
NM_000059.4(BRCA2):c.45dup (p.Lys16Ter)
|
rs2138698372
|
|
NM_000059.4(BRCA2):c.4600dup (p.Ile1534fs)
|
rs1555283867
|
|
NM_000059.4(BRCA2):c.4607del (p.Lys1536fs)
|
rs2137508205
|
|
NM_000059.4(BRCA2):c.4609G>T (p.Glu1537Ter)
|
rs753244927
|
|
NM_000059.4(BRCA2):c.460C>T (p.Gln154Ter)
|
|
|
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.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)
|
rs876658654
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4638dup (p.Asp1547Ter)
|
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.4651C>T (p.Gln1551Ter)
|
rs876661062
|
|
NM_000059.4(BRCA2):c.4654_4657del (p.Gly1552fs)
|
rs1555283889
|
|
NM_000059.4(BRCA2):c.4657_4658del (p.Gly1552_Thr1553insTer)
|
|
|
NM_000059.4(BRCA2):c.466_467del (p.Arg155_Asp156insTer)
|
rs886040542
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs)
|
rs1593903166
|
|
NM_000059.4(BRCA2):c.4695_4698dup (p.Leu1567fs)
|
rs397507738
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)
|
rs878853585
|
|
NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter)
|
rs878853585
|
|
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)
|
rs80359463
|
|
NM_000059.4(BRCA2):c.470del (p.Lys157fs)
|
rs886040544
|
|
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
NM_000059.4(BRCA2):c.471del (p.Lys157fs)
|
rs1060502395
|
|
NM_000059.4(BRCA2):c.4722del (p.Asp1575fs)
|
rs879255453
|
|
NM_000059.4(BRCA2):c.4723del (p.Asp1575fs)
|
rs1566231025
|
|
NM_000059.4(BRCA2):c.4729G>T (p.Glu1577Ter)
|
|
|
NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.4731dup (p.Leu1578fs)
|
rs397507740
|
|
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)
|
rs2137509604
|
|
NM_000059.4(BRCA2):c.4735_4744del (p.Ala1579fs)
|
rs2137509636
|
|
NM_000059.4(BRCA2):c.4735dup (p.Ala1579fs)
|
|
|
NM_000059.4(BRCA2):c.4739dup (p.Cys1580fs)
|
rs1555283924
|
|
NM_000059.4(BRCA2):c.473C>A (p.Ser158Ter)
|
rs80358701
|
|
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs)
|
rs864622401
|
|
NM_000059.4(BRCA2):c.475+1G>A
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475+1G>C
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475+2T>A
|
rs1555280966
|
|
NM_000059.4(BRCA2):c.475+2T>C
|
rs1555280966
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.475+5G>T
|
rs730881504
|
|
NM_000059.4(BRCA2):c.475G>C (p.Val159Leu)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.476-1G>A
|
rs397507340
|
|
NM_000059.4(BRCA2):c.476-1G>C
|
rs397507340
|
|
NM_000059.4(BRCA2):c.476-2A>C
|
rs81002853
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
NM_000059.4(BRCA2):c.4764_4783dup (p.Gln1595fs)
|
|
|
NM_000059.4(BRCA2):c.4768_4769del (p.Lys1590fs)
|
rs879255328
|
|
NM_000059.4(BRCA2):c.4772_4773del (p.Lys1590_Cys1591insTer)
|
rs2072512484
|
|
NM_000059.4(BRCA2):c.4780del (p.Met1594fs)
|
rs397507742
|
|
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)
|
rs1593903422
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4793del (p.Leu1598fs)
|
|
|
NM_000059.4(BRCA2):c.4799del (p.Asn1600fs)
|
rs886040550
|
|
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter)
|
rs2072513173
|
|
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter)
|
rs1566231167
|
|
NM_000059.4(BRCA2):c.4808del (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.480_489del (p.Gly162fs)
|
rs2072346061
|
|
NM_000059.4(BRCA2):c.4810dup (p.Leu1604fs)
|
rs1555283942
|
|
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.4847T>G (p.Leu1616Ter)
|
rs398122786
|
|
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)
|
rs397507746
|
|
NM_000059.4(BRCA2):c.4857_4870del (p.Asn1619_Leu1620insTer)
|
|
|
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.4889C>A (p.Ser1630Ter)
|
rs80358711
|
|
NM_000059.4(BRCA2):c.4893_4894del (p.Ser1632fs)
|
rs1555283980
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
NM_000059.4(BRCA2):c.4899_4900del (p.Leu1635fs)
|
rs1593903728
|
|
NM_000059.4(BRCA2):c.48_50delinsATTTCAAGAT (p.Thr17fs)
|
|
|
NM_000059.4(BRCA2):c.4903_4904del (p.Leu1635fs)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4904del (p.Phe1634_Leu1635insTer)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4904dup (p.Leu1635fs)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4909del (p.Val1637fs)
|
rs1064794377
|
|
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.4927_4928del (p.Val1643fs)
|
rs2072516053
|
|
NM_000059.4(BRCA2):c.4930_4937del (p.Glu1644fs)
|
rs886040554
|
|
NM_000059.4(BRCA2):c.4935del (p.Glu1646fs)
|
rs80359472
|
|
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.4936del (p.Glu1646fs)
|
rs773286595
|
|
NM_000059.4(BRCA2):c.4940_4941del (p.Thr1647fs)
|
rs397507751
|
|
NM_000059.4(BRCA2):c.4943del (p.Ala1648fs)
|
rs2137511937
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
NM_000059.4(BRCA2):c.4949del (p.Ser1650fs)
|
rs1593903909
|
|
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)
|
rs398122789
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
NM_000059.4(BRCA2):c.4965_4968del (p.Cys1654_Tyr1655insTer)
|
|
|
NM_000059.4(BRCA2):c.4965del (p.Cys1654_Tyr1655insTer)
|
rs80359475
|
|
NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter)
|
rs886038114
|
|
NM_000059.4(BRCA2):c.4974del (p.Gln1658fs)
|
rs1555284013
|
|
NM_000059.4(BRCA2):c.4976_4977insG (p.Tyr1661fs)
|
rs431825325
|
|
NM_000059.4(BRCA2):c.4979_4980del (p.Pro1660fs)
|
|
|
NM_000059.4(BRCA2):c.4979del (p.Pro1660fs)
|
|
|
NM_000059.4(BRCA2):c.4980_4981dup (p.Tyr1661fs)
|
rs886040558
|
|
NM_000059.4(BRCA2):c.4981_4982insGAAT (p.Tyr1661Ter)
|
|
|
NM_000059.4(BRCA2):c.4981del (p.Tyr1661fs)
|
rs886040558
|
|
NM_000059.4(BRCA2):c.4986del (p.Val1663fs)
|
|
|
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)
|
rs397507753
|
|
NM_000059.4(BRCA2):c.4990_4991del (p.Val1663_Ile1664insTer)
|
rs398122790
|
|
NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)
|
rs397507346
|
|
NM_000059.4(BRCA2):c.5007_5008insCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTCCNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Ala1670delinsArgGlyGlyGlyArgLeuTer)
|
rs2137512701
|
|
NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)
|
rs864622073
|
|
NM_000059.4(BRCA2):c.5034_5035del (p.Lys1678fs)
|
rs80359477
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
NM_000059.4(BRCA2):c.5039_5040del (p.Ser1680fs)
|
rs886040560
|
|
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs)
|
rs80359478
|
|
NM_000059.4(BRCA2):c.5042dup (p.Ser1682fs)
|
rs2137513243
|
|
NM_000059.4(BRCA2):c.5043_5046del (p.Ser1682fs)
|
rs2137513225
|
|
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.5054C>G (p.Ser1685Ter)
|
rs398122791
|
|
NM_000059.4(BRCA2):c.5054dup (p.Leu1686fs)
|
rs2137513496
|
|
NM_000059.4(BRCA2):c.5061del (p.Glu1688fs)
|
rs2137513583
|
|
NM_000059.4(BRCA2):c.5064dup (p.Ala1689fs)
|
rs2137513621
|
|
NM_000059.4(BRCA2):c.5065_5066delinsAAA (p.Ala1689fs)
|
rs276174852
|
|
NM_000059.4(BRCA2):c.5066del (p.Ala1689fs)
|
rs2137513666
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter)
|
rs1555284058
|
|
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.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
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.5150_5226delinsTACTTAATACTTATTAAGTATTA (p.Glu1717_Asn1742delinsValLeuAsnThrTyrTer)
|
rs2137514445
|
|
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+1G>T
|
rs397507762
|
|
NM_000059.4(BRCA2):c.516+2T>A
|
rs397507764
|
|
NM_000059.4(BRCA2):c.516+2T>C
|
rs397507764
|
|
NM_000059.4(BRCA2):c.516+4A>G
|
rs2137450725
|
|
NM_000059.4(BRCA2):c.5162del (p.Asn1721fs)
|
rs1555284090
|
|
NM_000059.4(BRCA2):c.5163dup (p.Ser1722fs)
|
rs2137514578
|
|
NM_000059.4(BRCA2):c.517-1G>A
|
rs81002849
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.5171_5172dup (p.Ala1725Ter)
|
rs587782075
|
|
NM_000059.4(BRCA2):c.5171del (p.Ile1724fs)
|
rs397507767
|
|
NM_000059.4(BRCA2):c.5176G>T (p.Glu1726Ter)
|
|
|
NM_000059.4(BRCA2):c.5189del (p.Asn1730fs)
|
rs1566231879
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
NM_000059.4(BRCA2):c.5191del (p.His1731fs)
|
rs1566231890
|
|
NM_000059.4(BRCA2):c.5192_5193del (p.His1731fs)
|
rs1555284096
|
|
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)
|
rs587779363
|
|
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs)
|
rs876660228
|
|
NM_000059.4(BRCA2):c.5197_5198dup (p.Glu1734fs)
|
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
NM_000059.4(BRCA2):c.5205_5208del (p.Gln1736fs)
|
rs886040575
|
|
NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter)
|
rs886037802
|
|
NM_000059.4(BRCA2):c.5209_5273dup (p.Asn1758delinsLysIleLeuIleTer)
|
rs1593904758
|
|
NM_000059.4(BRCA2):c.5209del (p.Asp1737fs)
|
|
|
NM_000059.4(BRCA2):c.5212dup (p.Thr1738fs)
|
rs1566231964
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5215del (p.Tyr1739fs)
|
rs398122796
|
|
NM_000059.4(BRCA2):c.5216_5217insAA (p.Tyr1739Ter)
|
|
|
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_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.5217_5224delTTTAAGTA
|
rs80359497
|
|
NM_000059.4(BRCA2):c.5219del (p.Tyr1739_Leu1740insTer)
|
rs886040582
|
|
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)
|
rs80359498
|
|
NM_000059.4(BRCA2):c.5222del (p.Ser1741fs)
|
rs2137515308
|
|
NM_000059.4(BRCA2):c.5225del (p.Asn1742fs)
|
rs2137515325
|
|
NM_000059.4(BRCA2):c.5227dup (p.Ser1743fs)
|
|
|
NM_000059.4(BRCA2):c.522del (p.Gln175fs)
|
rs1060502465
|
|
NM_000059.4(BRCA2):c.5230_5234del (p.Ser1744fs)
|
rs2072524440
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter)
|
rs750385844
|
|
NM_000059.4(BRCA2):c.5240dup (p.Asn1747fs)
|
|
|
NM_000059.4(BRCA2):c.5241_5242insTA (p.Ser1748Ter)
|
rs749980674
|
|
NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter)
|
rs886040584
|
|
NM_000059.4(BRCA2):c.5266dup (p.Val1756fs)
|
|
|
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.5278dup (p.Ser1760fs)
|
rs1593905018
|
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
rs80358751
|
|
NM_000059.4(BRCA2):c.5279dup (p.Gly1761fs)
|
rs2137515895
|
|
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.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.5298_5301del (p.Lys1767fs)
|
rs1064795500
|
|
NM_000059.4(BRCA2):c.5305del (p.Asp1769fs)
|
rs2137516181
|
|
NM_000059.4(BRCA2):c.5317G>T (p.Glu1773Ter)
|
rs1566232201
|
|
NM_000059.4(BRCA2):c.5325_5334del (p.Asn1778fs)
|
rs2137516326
|
|
NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs)
|
rs398122530
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
NM_000059.4(BRCA2):c.534dup (p.His179fs)
|
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5350_5353del (p.Asn1784fs)
|
rs2072527384
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5353_5354del (p.Asn1784_Thr1785insTer)
|
rs397507780
|
|
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.5367del (p.Lys1789_Val1790insTer)
|
|
|
NM_000059.4(BRCA2):c.5373_5374del (p.Ser1792fs)
|
rs1593905291
|
|
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)
|
rs587782598
|
|
NM_000059.4(BRCA2):c.5386_5393del (p.Asp1796fs)
|
|
|
NM_000059.4(BRCA2):c.5388dup (p.Ala1797fs)
|
rs1566232365
|
|
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.5396_5397insTTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACGGTACTNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Ala1799_Tyr1800insSerLeuSerLeuSerLeuSerLeuSerLeuSerLeuSerProArgSerProSerThrValSerLeuTer)
|
rs2137517119
|
|
NM_000059.4(BRCA2):c.5398del (p.Tyr1800fs)
|
|
|
NM_000059.4(BRCA2):c.5402dup (p.Gln1802fs)
|
rs2137517148
|
|
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)
|
rs80358763
|
|
NM_000059.4(BRCA2):c.5409_5412del (p.Val1804fs)
|
rs2137517259
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
NM_000059.4(BRCA2):c.5427C>A (p.Cys1809Ter)
|
rs80359791
|
|
NM_000059.4(BRCA2):c.5428del (p.Val1810fs)
|
|
|
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)
|
rs80358767
|
|
NM_000059.4(BRCA2):c.5436del (p.Glu1812fs)
|
rs397507351
|
|
NM_000059.4(BRCA2):c.5437del (p.Leu1813_Val1814insTer)
|
rs2137517530
|
|
NM_000059.4(BRCA2):c.5439del (p.Leu1813_Val1814insTer)
|
rs397507785
|
|
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)
|
rs1566232471
|
|
NM_000059.4(BRCA2):c.5454del (p.Cys1820fs)
|
rs80359513
|
|
NM_000059.4(BRCA2):c.5460C>A (p.Cys1820Ter)
|
|
|
NM_000059.4(BRCA2):c.5465del (p.Asn1822fs)
|
rs1555284237
|
|
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter)
|
rs276174858
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5472dup (p.Ala1825fs)
|
rs1555284244
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5486T>A (p.Leu1829Ter)
|
|
|
NM_000059.4(BRCA2):c.5492dup (p.Ser1832fs)
|
rs80359517
|
|
NM_000059.4(BRCA2):c.5495del (p.Ser1832fs)
|
|
|
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)
|
rs786203853
|
|
NM_000059.4(BRCA2):c.5498del (p.Asn1833fs)
|
rs397507353
|
|
NM_000059.4(BRCA2):c.5512G>T (p.Glu1838Ter)
|
rs2072531117
|
|
NM_000059.4(BRCA2):c.5523dup (p.Pro1842fs)
|
rs2137518266
|
|
NM_000059.4(BRCA2):c.5525del (p.Pro1842fs)
|
rs1566232608
|
|
NM_000059.4(BRCA2):c.5532del (p.Phe1844fs)
|
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
NM_000059.4(BRCA2):c.5547_5548del (p.Lys1850fs)
|
rs1593905747
|
|
NM_000059.4(BRCA2):c.554del (p.Gly185fs)
|
rs2137452259
|
|
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)
|
rs587782011
|
|
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)
|
rs587782011
|
|
NM_000059.4(BRCA2):c.5558del (p.Cys1853fs)
|
|
|
NM_000059.4(BRCA2):c.5563dup (p.Ser1855fs)
|
|
|
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_5583del (p.Lys1860_Lys1861insTer)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5583del (p.Lys1861_Val1862insTer)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5584_5587del (p.Val1862fs)
|
rs398122535
|
|
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.5592_5593del (p.Phe1866fs)
|
rs397507791
|
|
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs)
|
rs80359524
|
|
NM_000059.4(BRCA2):c.5598dup (p.Thr1867fs)
|
|
|
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.5616del (p.Lys1872_Val1873insTer)
|
rs886040929
|
|
NM_000059.4(BRCA2):c.5617_5621del (p.Lys1872_Val1873insTer)
|
rs1593905968
|
|
NM_000059.4(BRCA2):c.5617del (p.Lys1872_Val1873insTer)
|
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
NM_000059.4(BRCA2):c.5622_5628del (p.Lys1875fs)
|
rs1593905977
|
|
NM_000059.4(BRCA2):c.5622dup (p.Lys1875Ter)
|
rs2137519233
|
|
NM_000059.4(BRCA2):c.5624del (p.Lys1875fs)
|
rs397507792
|
|
NM_000059.4(BRCA2):c.5626G>T (p.Glu1876Ter)
|
rs397507793
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
|
|
|
NM_000059.4(BRCA2):c.5633dup (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_5647del (p.Ser1882fs)
|
rs1555284326
|
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
rs80358785
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
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.5659del (p.Thr1887fs)
|
rs2072535063
|
|
NM_000059.4(BRCA2):c.565dup (p.Asp189fs)
|
rs1555281066
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.5671_5672dup (p.Gly1892fs)
|
rs2137519767
|
|
NM_000059.4(BRCA2):c.5675del (p.Gly1892fs)
|
rs1593906164
|
|
NM_000059.4(BRCA2):c.5681_5682dup (p.Glu1895fs)
|
|
|
NM_000059.4(BRCA2):c.5681_5682insAA (p.Tyr1894Ter)
|
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)
|
rs398122539
|
|
NM_000059.4(BRCA2):c.5698dup (p.Ser1900fs)
|
rs2072536108
|
|
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)
|
rs397507797
|
|
NM_000059.4(BRCA2):c.5701del (p.Glu1901fs)
|
|
|
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs)
|
rs80359528
|
|
NM_000059.4(BRCA2):c.5715dup (p.Asn1906Ter)
|
rs587782901
|
|
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs)
|
rs886040608
|
|
NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs)
|
rs794727014
|
|
NM_000059.4(BRCA2):c.5724del (p.Asp1909fs)
|
rs80359532
|
|
NM_000059.4(BRCA2):c.5727_5728insG (p.Asn1910fs)
|
rs1593906350
|
|
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.5754_5755del (p.His1918fs)
|
rs397507803
|
|
NM_000059.4(BRCA2):c.5754dup (p.Lys1919Ter)
|
|
|
NM_000059.4(BRCA2):c.5763del (p.Phe1921fs)
|
rs80359534
|
|
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)
|
rs80359534
|
|
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs)
|
rs80359535
|
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
rs80358806
|
|
NM_000059.4(BRCA2):c.5774dup (p.Ser1926fs)
|
|
|
NM_000059.4(BRCA2):c.5778_5779del (p.Ser1926fs)
|
rs80359536
|
|
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter)
|
rs886038131
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
NM_000059.4(BRCA2):c.5789del (p.Leu1930fs)
|
rs397507806
|
|
NM_000059.4(BRCA2):c.5790dup (p.Gln1931fs)
|
rs2072538550
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.5795_5799del (p.His1932fs)
|
rs1555284397
|
|
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.5806_5807del (p.Met1936fs)
|
|
|
NM_000059.4(BRCA2):c.5807del (p.Met1936fs)
|
rs1555284404
|
|
NM_000059.4(BRCA2):c.5809_5812del (p.Ser1937fs)
|
rs886040611
|
|
NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs)
|
rs886040612
|
|
NM_000059.4(BRCA2):c.5816T>A (p.Leu1939Ter)
|
rs2072539219
|
|
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.5824del (p.Val1942fs)
|
|
|
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.5830A>T (p.Lys1944Ter)
|
|
|
NM_000059.4(BRCA2):c.5832_5838del (p.Lys1944fs)
|
rs2072539520
|
|
NM_000059.4(BRCA2):c.5833del (p.Ile1945fs)
|
rs2137521438
|
|
NM_000059.4(BRCA2):c.5835dup (p.Ser1946fs)
|
rs886040614
|
|
NM_000059.4(BRCA2):c.5842del (p.Cys1948fs)
|
rs398122541
|
|
NM_000059.4(BRCA2):c.5846del (p.Asp1949fs)
|
rs1555284423
|
|
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.5875_5876delinsTTT (p.Lys1959fs)
|
rs1593906774
|
|
NM_000059.4(BRCA2):c.5879_5883del (p.Cys1960fs)
|
|
|
NM_000059.4(BRCA2):c.5880T>A (p.Cys1960Ter)
|
rs368055906
|
|
NM_000059.4(BRCA2):c.5881del (p.Ser1961fs)
|
rs2137521963
|
|
NM_000059.4(BRCA2):c.5899A>T (p.Lys1967Ter)
|
rs988285170
|
|
NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCTAAAAANNNNNNNNNNGTTGATTTTTTTTTTTTGCCTGAAACCCCCCACTCAACCACTCCTCGTGGTCCATAACCTGAAAACATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACACGCTGCA (p.Asn20delinsSerLeuGlnTer)
|
rs2138698413
|
|
NM_000059.4(BRCA2):c.5904dup (p.Val1969fs)
|
rs886040617
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter)
|
rs80358825
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
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.5947G>T (p.Gly1983Ter)
|
rs1555284478
|
|
NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs)
|
rs397507814
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)
|
rs886040622
|
|
NM_000059.4(BRCA2):c.5962del (p.Val1988fs)
|
rs876661236
|
|
NM_000059.4(BRCA2):c.5962dup (p.Val1988fs)
|
rs876661236
|
|
NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)
|
rs886038134
|
|
NM_000059.4(BRCA2):c.5966dup (p.Asp1990fs)
|
rs886040623
|
|
NM_000059.4(BRCA2):c.5968_5969del (p.Asp1990fs)
|
rs80359552
|
|
NM_000059.4(BRCA2):c.5969del (p.Asp1990fs)
|
rs886038135
|
|
NM_000059.4(BRCA2):c.5975C>G (p.Ser1992Ter)
|
rs80358830
|
|
NM_000059.4(BRCA2):c.5979dup (p.Gln1994fs)
|
rs2137522893
|
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
rs80358831
|
|
NM_000059.4(BRCA2):c.5984dup (p.Asn1995fs)
|
rs397507818
|
|
NM_000059.4(BRCA2):c.5985del (p.Asn1995fs)
|
rs2137522955
|
|
NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs)
|
rs886038136
|
|
NM_000059.4(BRCA2):c.5995del (p.Val1999fs)
|
|
|
NM_000059.4(BRCA2):c.6007del (p.Glu2002_Ile2003insTer)
|
rs1593907194
|
|
NM_000059.4(BRCA2):c.6011_6017del (p.Glu2004fs)
|
rs397507362
|
|
NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs)
|
rs1057518635
|
|
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs)
|
rs2137523279
|
|
NM_000059.4(BRCA2):c.6017del (p.Ser2006fs)
|
|
|
NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)
|
rs863224467
|
|
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.6034del (p.Ser2012fs)
|
rs397507823
|
|
NM_000059.4(BRCA2):c.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys2013Ter)
|
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6039del (p.Val2014fs)
|
rs876660637
|
|
NM_000059.4(BRCA2):c.603del (p.Thr203fs)
|
rs2072350917
|
|
NM_000059.4(BRCA2):c.6052_6053del (p.Lys2017_Ser2018insTer)
|
rs886040631
|
|
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.606del (p.Thr203fs)
|
|
|
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)
|
rs80358844
|
|
NM_000059.4(BRCA2):c.6070del (p.Gln2024fs)
|
|
|
NM_000059.4(BRCA2):c.6074_6075del (p.Leu2025fs)
|
rs1060502444
|
|
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
NM_000059.4(BRCA2):c.6079dup (p.Arg2027fs)
|
rs397507826
|
|
NM_000059.4(BRCA2):c.6082_6083del (p.Glu2028fs)
|
rs886040634
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.6083_6091delinsT (p.Glu2028fs)
|
rs2072545943
|
|
NM_000059.4(BRCA2):c.6089del (p.Asn2030fs)
|
rs1555284538
|
|
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.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
NM_000059.4(BRCA2):c.6121dup (p.Ser2041fs)
|
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
NM_000059.4(BRCA2):c.6129del (p.Gly2044fs)
|
rs80359561
|
|
NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs)
|
rs80359561
|
|
NM_000059.4(BRCA2):c.6141T>A (p.Tyr2047Ter)
|
rs1466688245
|
|
NM_000059.4(BRCA2):c.6150_6162del (p.Asn2051fs)
|
|
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
rs786202461
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
NM_000059.4(BRCA2):c.6164del (p.Phe2055fs)
|
rs397507831
|
|
NM_000059.4(BRCA2):c.6182dup (p.Ser2062fs)
|
rs2137525058
|
|
NM_000059.4(BRCA2):c.6187_6197del (p.Gly2063fs)
|
rs1555284584
|
|
NM_000059.4(BRCA2):c.6193C>T (p.Gln2065Ter)
|
|
|
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.6212del (p.Ser2071fs)
|
rs2137525305
|
|
NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)
|
rs80359567
|
|
NM_000059.4(BRCA2):c.6220del (p.His2074fs)
|
rs1060502400
|
|
NM_000059.4(BRCA2):c.6224_6225del (p.Lys2075fs)
|
|
|
NM_000059.4(BRCA2):c.6225dup (p.Val2076fs)
|
rs886040641
|
|
NM_000059.4(BRCA2):c.6229A>T (p.Lys2077Ter)
|
rs2072549579
|
|
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)
|
rs1555284605
|
|
NM_000059.4(BRCA2):c.6233dup (p.Val2079fs)
|
rs878853595
|
|
NM_000059.4(BRCA2):c.6239T>G (p.Leu2080Ter)
|
rs80358864
|
|
NM_000059.4(BRCA2):c.6240_6241insAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCTAGACAAAATGTATCAAAAATACTTCCTCGTGTTGATAAGAGAAACCCAGAGCACTGTGTAAACTCAGAAATGGAAAAA (p.Glu2081delinsArgGlyIleTer)
|
|
|
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>G (p.Leu2085Ter)
|
rs864622082
|
|
NM_000059.4(BRCA2):c.6262del (p.Thr2088fs)
|
rs886040646
|
|
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs)
|
rs1064794647
|
|
NM_000059.4(BRCA2):c.6264_6265del (p.Glu2089fs)
|
rs2137525802
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
NM_000059.4(BRCA2):c.6267del (p.Glu2089fs)
|
rs1301524707
|
|
NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs)
|
rs80359571
|
|
NM_000059.4(BRCA2):c.6271del (p.Ser2091fs)
|
|
|
NM_000059.4(BRCA2):c.6282T>A (p.Tyr2094Ter)
|
rs1566234249
|
|
NM_000059.4(BRCA2):c.6284C>A (p.Ser2095Ter)
|
rs1593908124
|
|
NM_000059.4(BRCA2):c.6291del (p.Ser2098fs)
|
rs2137526091
|
|
NM_000059.4(BRCA2):c.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg2099delinsGlnTyrProLysLysAlaPheHisIleMetTrpTer)
|
rs2137524457
|
|
NM_000059.4(BRCA2):c.6297_6303delinsTCC (p.Arg2099fs)
|
rs1593908171
|
|
NM_000059.4(BRCA2):c.6302dup (p.Asn2101fs)
|
rs397507839
|
|
NM_000059.4(BRCA2):c.6304_6305del (p.Val2102fs)
|
rs886040648
|
|
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.6313dup (p.Ile2105fs)
|
|
|
NM_000059.4(BRCA2):c.6315dup (p.Leu2106fs)
|
rs2137526306
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1G>A
|
rs81002820
|
|
NM_000059.4(BRCA2):c.632-1G>T
|
rs81002820
|
|
NM_000059.4(BRCA2):c.632-2A>C
|
rs397507842
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
NM_000059.4(BRCA2):c.6320del (p.Pro2107fs)
|
rs886040650
|
|
NM_000059.4(BRCA2):c.6327dup (p.Asp2110Ter)
|
rs1555284637
|
|
NM_000059.4(BRCA2):c.6330dup (p.Lys2111Ter)
|
rs2137526474
|
|
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.6341del (p.Pro2114fs)
|
|
|
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs)
|
rs80359576
|
|
NM_000059.4(BRCA2):c.6355_6356del (p.Asn2119fs)
|
rs886040652
|
|
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.6361G>T (p.Glu2121Ter)
|
|
|
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.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.6383_6387del (p.Lys2128fs)
|
|
|
NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)
|
rs886040653
|
|
NM_000059.4(BRCA2):c.6388_6392del (p.Phe2130fs)
|
rs2137526969
|
|
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.6397dup (p.Ser2133fs)
|
rs431825342
|
|
NM_000059.4(BRCA2):c.639del (p.Asn213fs)
|
rs2072373015
|
|
NM_000059.4(BRCA2):c.6401_6404del (p.Asn2134fs)
|
rs80359583
|
|
NM_000059.4(BRCA2):c.6401del (p.Asn2134fs)
|
|
|
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.6406_6407del (p.Leu2136fs)
|
rs397507850
|
|
NM_000059.4(BRCA2):c.6407T>G (p.Leu2136Ter)
|
rs2137527241
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
NM_000059.4(BRCA2):c.6409_6410del (p.Asn2137fs)
|
rs886038146
|
|
NM_000059.4(BRCA2):c.6410del (p.Asn2137fs)
|
rs886038146
|
|
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)
|
rs763639231
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
NM_000059.4(BRCA2):c.6419del (p.Gly2140fs)
|
rs886040656
|
|
NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter)
|
rs149330893
|
|
NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter)
|
rs149330893
|
|
NM_000059.4(BRCA2):c.6434_6441del (p.Asn2145fs)
|
rs397507371
|
|
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs)
|
rs80359587
|
|
NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs)
|
rs397507855
|
|
NM_000059.4(BRCA2):c.643G>T (p.Glu215Ter)
|
rs774539540
|
|
NM_000059.4(BRCA2):c.643del (p.Glu215fs)
|
rs2137458206
|
|
NM_000059.4(BRCA2):c.6440_6443del (p.His2147fs)
|
|
|
NM_000059.4(BRCA2):c.6443_6444del (p.Ser2148fs)
|
rs80359589
|
|
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.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.6469C>T (p.Gln2157Ter)
|
rs397507859
|
|
NM_000059.4(BRCA2):c.646del (p.Ala216fs)
|
rs2137458240
|
|
NM_000059.4(BRCA2):c.6474dup (p.Gln2159fs)
|
rs1555284710
|
|
NM_000059.4(BRCA2):c.6475_6476insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCTCTCTCAATTTC (p.Gln2159delinsLeuPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)
|
rs886040658
|
|
NM_000059.4(BRCA2):c.6481_6484del (p.Asp2161fs)
|
rs886039319
|
|
NM_000059.4(BRCA2):c.6483del (p.Asp2161fs)
|
|
|
NM_000059.4(BRCA2):c.6485_6486del (p.Lys2162fs)
|
rs886040659
|
|
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.6487dup (p.Gln2163fs)
|
rs2137528047
|
|
NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter)
|
rs397507860
|
|
NM_000059.4(BRCA2):c.6490del (p.Gln2164fs)
|
rs80359599
|
|
NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)
|
rs397507862
|
|
NM_000059.4(BRCA2):c.6491del (p.Gln2164fs)
|
rs1135401914
|
|
NM_000059.4(BRCA2):c.6494del (p.Leu2165fs)
|
rs276174874
|
|
NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter)
|
rs886040660
|
|
NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)
|
rs80359600
|
|
NM_000059.4(BRCA2):c.650_651del (p.Ala216_Ser217insTer)
|
|
|
NM_000059.4(BRCA2):c.6510del (p.Val2171fs)
|
rs80359600
|
|
NM_000059.4(BRCA2):c.6513_6514del (p.Ser2172fs)
|
rs1555284730
|
|
NM_000059.4(BRCA2):c.6528_6535dup
|
rs1555284738
|
|
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.6547G>T (p.Glu2183Ter)
|
rs397507866
|
|
NM_000059.4(BRCA2):c.6547del (p.Glu2183fs)
|
rs1566234899
|
|
NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter)
|
rs80358887
|
|
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)
|
rs80359603
|
|
NM_000059.4(BRCA2):c.6554dup (p.Ser2186fs)
|
rs2072559504
|
|
NM_000059.4(BRCA2):c.655del (p.Thr219fs)
|
rs2137458263
|
|
NM_000059.4(BRCA2):c.6566del (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.6574del (p.Met2192fs)
|
rs1060502392
|
|
NM_000059.4(BRCA2):c.6580del (p.Ile2194fs)
|
|
|
NM_000059.4(BRCA2):c.6580dup (p.Ile2194fs)
|
rs886040668
|
|
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs)
|
rs1566234955
|
|
NM_000059.4(BRCA2):c.6585dup (p.Lys2196Ter)
|
rs886040669
|
|
NM_000059.4(BRCA2):c.6586A>T (p.Lys2196Ter)
|
rs398122561
|
|
NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs)
|
rs397507868
|
|
NM_000059.4(BRCA2):c.6589dup (p.Thr2197fs)
|
rs397507868
|
|
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.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6601del (p.Ser2201fs)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6611del (p.Pro2204fs)
|
rs1135401915
|
|
NM_000059.4(BRCA2):c.6625del (p.Asn2208_Ile2209insTer)
|
|
|
NM_000059.4(BRCA2):c.6625dup (p.Ile2209fs)
|
rs886040670
|
|
NM_000059.4(BRCA2):c.6626_6627del (p.Ile2209fs)
|
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.6635del (p.Cys2212fs)
|
|
|
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>A (p.Tyr2215Ter)
|
|
|
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)
|
rs80358892
|
|
NM_000059.4(BRCA2):c.6645del (p.Ser2216fs)
|
|
|
NM_000059.4(BRCA2):c.6648_6649dup (p.Lys2217fs)
|
rs2137529420
|
|
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)
|
rs1555284779
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6658_6662del (p.Glu2220fs)
|
rs80359618
|
|
NM_000059.4(BRCA2):c.6662del (p.Asn2221fs)
|
rs1064794812
|
|
NM_000059.4(BRCA2):c.6663_6664insAAAG (p.Tyr2222fs)
|
rs786202157
|
|
NM_000059.4(BRCA2):c.6666C>G (p.Tyr2222Ter)
|
|
|
NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs)
|
rs80359619
|
|
NM_000059.4(BRCA2):c.6678del (p.Ala2227fs)
|
rs80359620
|
|
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.6690del (p.Ile2230fs)
|
rs1555284792
|
|
NM_000059.4(BRCA2):c.6690dup (p.Ala2231fs)
|
rs1555284792
|
|
NM_000059.4(BRCA2):c.6692del (p.Ala2231fs)
|
rs886038153
|
|
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)
|
rs878853301
|
|
NM_000059.4(BRCA2):c.6698del (p.Ala2233fs)
|
rs886040673
|
|
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+1_67+6del
|
|
|
NM_000059.4(BRCA2):c.67+2T>A
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+2T>C
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+2T>G
|
rs81002885
|
|
NM_000059.4(BRCA2):c.67+3A>G
|
rs1593880835
|
|
NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs)
|
rs587782667
|
|
NM_000059.4(BRCA2):c.6706G>T (p.Glu2236Ter)
|
rs41293503
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)
|
rs1566235284
|
|
NM_000059.4(BRCA2):c.6727del (p.Ser2243fs)
|
rs886039320
|
|
NM_000059.4(BRCA2):c.6728_6730del (p.Ser2243_Lys2244delinsTer)
|
rs2137530192
|
|
NM_000059.4(BRCA2):c.672_681+23del
|
rs1555281357
|
|
NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter)
|
rs886040675
|
|
NM_000059.4(BRCA2):c.6739dup (p.Ser2247fs)
|
rs2137530289
|
|
NM_000059.4(BRCA2):c.6751_6752del (p.His2251fs)
|
rs2137530370
|
|
NM_000059.4(BRCA2):c.6751del (p.His2251fs)
|
rs1566235342
|
|
NM_000059.4(BRCA2):c.6754del (p.Ser2252fs)
|
|
|
NM_000059.4(BRCA2):c.6754dup (p.Ser2252fs)
|
rs180670511
|
|
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.6762del (p.Phe2254fs)
|
rs80359624
|
|
NM_000059.4(BRCA2):c.6763dup (p.Thr2255fs)
|
rs886038155
|
|
NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)
|
rs80358901
|
|
NM_000059.4(BRCA2):c.6771del (p.Glu2258fs)
|
|
|
NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs)
|
rs786204279
|
|
NM_000059.4(BRCA2):c.6777_6778insA (p.Glu2260fs)
|
rs1566235386
|
|
NM_000059.4(BRCA2):c.6784del (p.Met2262fs)
|
|
|
NM_000059.4(BRCA2):c.6791dup (p.Leu2264fs)
|
rs2137530688
|
|
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter)
|
rs377698594
|
|
NM_000059.4(BRCA2):c.6807del (p.Ile2269fs)
|
rs2072565736
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
|
NM_000059.4(BRCA2):c.681+1G>T
|
rs398122565
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)
|
rs397507885
|
|
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>C
|
rs81002831
|
|
NM_000059.4(BRCA2):c.682-2A>C
|
rs878853287
|
|
NM_000059.4(BRCA2):c.682-2A>G
|
rs878853287
|
|
NM_000059.4(BRCA2):c.6824_6825dup (p.Pro2276fs)
|
rs1593909892
|
|
NM_000059.4(BRCA2):c.6824_6827dup (p.Leu2277fs)
|
rs1555284862
|
|
NM_000059.4(BRCA2):c.6828_6829insTAGAGCCC (p.Leu2277Ter)
|
|
|
NM_000059.4(BRCA2):c.6829del (p.Ile2278fs)
|
|
|
NM_000059.4(BRCA2):c.6832_6833insAA (p.Ile2278fs)
|
rs1593909929
|
|
NM_000059.4(BRCA2):c.6832dup (p.Ile2278fs)
|
rs1593909929
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
NM_000059.4(BRCA2):c.6839dup (p.Glu2282fs)
|
rs2137531082
|
|
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs)
|
rs761744738
|
|
NM_000059.4(BRCA2):c.6851C>G (p.Ser2284Ter)
|
rs2072597446
|
|
NM_000059.4(BRCA2):c.6859_6863del (p.Arg2287fs)
|
rs398122568
|
|
NM_000059.4(BRCA2):c.6864dup (p.Leu2290fs)
|
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs)
|
rs886040932
|
|
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.6920C>A (p.Ser2307Ter)
|
rs2137537327
|
|
NM_000059.4(BRCA2):c.6925del (p.Ser2309fs)
|
rs2072598725
|
|
NM_000059.4(BRCA2):c.692dup (p.Ser231fs)
|
rs2072384782
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-1G>C
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-1G>T
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.693del (p.Tyr232fs)
|
rs2137461170
|
|
NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)
|
rs80359628
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter)
|
rs80358923
|
|
NM_000059.4(BRCA2):c.6971_6972del (p.His2324fs)
|
rs1555285347
|
|
NM_000059.4(BRCA2):c.6977_6980del (p.Val2325_Ser2326insTer)
|
|
|
NM_000059.4(BRCA2):c.6981_7005del (p.Leu2327fs)
|
rs1555285350
|
|
NM_000059.4(BRCA2):c.6983_6984del (p.Glu2328fs)
|
rs2072614718
|
|
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.6993_7007+7del
|
rs1566237849
|
|
NM_000059.4(BRCA2):c.6997_6998del (p.Val2333fs)
|
rs1593913331
|
|
NM_000059.4(BRCA2):c.7004_7007+2del
|
rs397507890
|
|
NM_000059.4(BRCA2):c.7005del (p.Arg2336fs)
|
rs2072615390
|
|
NM_000059.4(BRCA2):c.7007+1G>A
|
rs397507891
|
|
NM_000059.4(BRCA2):c.7007+1G>C
|
rs397507891
|
|
NM_000059.4(BRCA2):c.7007+2T>A
|
rs886040937
|
|
NM_000059.4(BRCA2):c.7007+2T>C
|
rs886040937
|
|
NM_000059.4(BRCA2):c.7007+2T>G
|
rs886040937
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007+5G>C
|
rs81002816
|
|
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.7008-1G>A
|
rs786204280
|
|
NM_000059.4(BRCA2):c.7008-1G>C
|
rs786204280
|
|
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.7018G>T (p.Glu2340Ter)
|
rs2137555167
|
|
NM_000059.4(BRCA2):c.7018del (p.Glu2340fs)
|
rs2072676283
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs)
|
rs80359634
|
|
NM_000059.4(BRCA2):c.702del (p.Asn235fs)
|
rs397507892
|
|
NM_000059.4(BRCA2):c.7032dup (p.Gln2345fs)
|
rs80359635
|
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
rs886040685
|
|
NM_000059.4(BRCA2):c.7037del (p.Asn2346fs)
|
rs886038159
|
|
NM_000059.4(BRCA2):c.7055del (p.Pro2352fs)
|
rs2137555513
|
|
NM_000059.4(BRCA2):c.7058del (p.Gly2353fs)
|
rs1566240739
|
|
NM_000059.4(BRCA2):c.705del (p.His236fs)
|
rs1555281452
|
|
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.7075A>T (p.Lys2359Ter)
|
|
|
NM_000059.4(BRCA2):c.7077del (p.Lys2359fs)
|
|
|
NM_000059.4(BRCA2):c.7077dup (p.Ser2360fs)
|
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)
|
rs80358943
|
|
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter)
|
rs886040687
|
|
NM_000059.4(BRCA2):c.7126_7127del (p.Ala2376fs)
|
rs2137556120
|
|
NM_000059.4(BRCA2):c.7128del (p.Val2377fs)
|
|
|
NM_000059.4(BRCA2):c.712dup (p.Glu238fs)
|
rs1593890163
|
|
NM_000059.4(BRCA2):c.7132del (p.Ser2378fs)
|
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
NM_000059.4(BRCA2):c.7142del (p.Pro2381fs)
|
rs398122576
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7150C>T (p.Gln2384Ter)
|
rs55977008
|
|
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs)
|
rs276174890
|
|
NM_000059.4(BRCA2):c.7155_7162dup (p.Thr2388fs)
|
rs2137556423
|
|
NM_000059.4(BRCA2):c.715del (p.Ser239fs)
|
rs431825350
|
|
NM_000059.4(BRCA2):c.7177dup (p.Met2393fs)
|
rs397507899
|
|
NM_000059.4(BRCA2):c.7185_7188del (p.His2395fs)
|
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)
|
rs397507902
|
|
NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter)
|
rs397507902
|
|
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)
|
rs397507903
|
|
NM_000059.4(BRCA2):c.7201_7213del (p.Arg2401fs)
|
|
|
NM_000059.4(BRCA2):c.7207dup (p.Thr2403fs)
|
rs2072679856
|
|
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.7211_7212del (p.Lys2404fs)
|
rs80359642
|
|
NM_000059.4(BRCA2):c.7215_7218del (p.Val2407fs)
|
rs1555286048
|
|
NM_000059.4(BRCA2):c.7217_7218del (p.Phe2406fs)
|
rs876659345
|
|
NM_000059.4(BRCA2):c.7219_7220del (p.Val2407fs)
|
rs2137556981
|
|
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)
|
rs876659100
|
|
NM_000059.4(BRCA2):c.7220_7221inv (p.Val2407Glu)
|
|
|
NM_000059.4(BRCA2):c.722del (p.Lys241fs)
|
rs2137461470
|
|
NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)
|
rs1555286052
|
|
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)
|
rs397507906
|
|
NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs)
|
rs1566241033
|
|
NM_000059.4(BRCA2):c.7241C>A (p.Ser2414Ter)
|
|
|
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)
|
rs80358951
|
|
NM_000059.4(BRCA2):c.7241_7242insTA (p.His2415fs)
|
|
|
NM_000059.4(BRCA2):c.724A>T (p.Lys242Ter)
|
rs2137461517
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
NM_000059.4(BRCA2):c.7252A>T (p.Arg2418Ter)
|
rs80358953
|
|
NM_000059.4(BRCA2):c.7252del (p.Arg2418fs)
|
rs1555286059
|
|
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.7261C>T (p.Gln2421Ter)
|
rs397507908
|
|
NM_000059.4(BRCA2):c.7267_7268del (p.Cys2422_Val2423insTer)
|
rs2072681486
|
|
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs)
|
rs2137557686
|
|
NM_000059.4(BRCA2):c.7294dup (p.Arg2432fs)
|
|
|
NM_000059.4(BRCA2):c.7295_7298del (p.Arg2432fs)
|
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
NM_000059.4(BRCA2):c.732_733del (p.Asp244fs)
|
rs1408096224
|
|
NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)
|
rs80358959
|
|
NM_000059.4(BRCA2):c.733_740del (p.Ile247fs)
|
|
|
NM_000059.4(BRCA2):c.7340dup (p.Asn2447fs)
|
rs786204281
|
|
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.7350_7354del (p.Asn2450fs)
|
rs886038165
|
|
NM_000059.4(BRCA2):c.7360del (p.Ile2454fs)
|
rs80359646
|
|
NM_000059.4(BRCA2):c.7363dup (p.His2455fs)
|
|
|
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.7379del (p.Asn2460fs)
|
rs397507914
|
|
NM_000059.4(BRCA2):c.7386del (p.Asn2463fs)
|
|
|
NM_000059.4(BRCA2):c.7388del (p.Asn2463fs)
|
rs1555286098
|
|
NM_000059.4(BRCA2):c.7389_7392del (p.Asn2463fs)
|
rs886040704
|
|
NM_000059.4(BRCA2):c.7390C>T (p.Gln2464Ter)
|
rs572945276
|
|
NM_000059.4(BRCA2):c.7396del (p.Ala2465_Val2466insTer)
|
rs2072684126
|
|
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.7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
NM_000059.4(BRCA2):c.7425del (p.Glu2476fs)
|
rs886040706
|
|
NM_000059.4(BRCA2):c.7433T>G (p.Leu2478Ter)
|
rs2072685323
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
NM_000059.4(BRCA2):c.7436-2A>C
|
rs397507917
|
|
NM_000059.4(BRCA2):c.7436-2A>G
|
rs397507917
|
|
NM_000059.4(BRCA2):c.7443del (p.Thr2482fs)
|
rs80359652
|
|
NM_000059.4(BRCA2):c.7447del (p.Ser2483fs)
|
rs1060502482
|
|
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.7474_7475del (p.Asp2492fs)
|
rs80359653
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
NM_000059.4(BRCA2):c.7488del (p.Lys2497fs)
|
rs2137562191
|
|
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.7495_7496del (p.Gln2499fs)
|
|
|
NM_000059.4(BRCA2):c.7495del (p.Gln2499fs)
|
rs2137562247
|
|
NM_000059.4(BRCA2):c.7500del (p.Arg2500fs)
|
rs1566241962
|
|
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.7517dup (p.Pro2507fs)
|
rs886040713
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
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.7542_7549dup (p.Thr2517fs)
|
rs2137562799
|
|
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)
|
rs80359657
|
|
NM_000059.4(BRCA2):c.7548del (p.Thr2517fs)
|
|
|
NM_000059.4(BRCA2):c.7556dup (p.Arg2520fs)
|
rs80359660
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7563del (p.Ser2522fs)
|
rs2137563070
|
|
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs)
|
rs80359664
|
|
NM_000059.4(BRCA2):c.756_757del (p.Asp252fs)
|
rs80359662
|
|
NM_000059.4(BRCA2):c.7572dup (p.Ala2525fs)
|
rs1593919830
|
|
NM_000059.4(BRCA2):c.7575del (p.Ala2526fs)
|
rs869320797
|
|
NM_000059.4(BRCA2):c.7578_7579del (p.Val2527fs)
|
rs2072698959
|
|
NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)
|
rs1555286294
|
|
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs)
|
rs1555286296
|
|
NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)
|
rs1555286298
|
|
NM_000059.4(BRCA2):c.7588C>T (p.Gln2530Ter)
|
|
|
NM_000059.4(BRCA2):c.7588del (p.Gln2530fs)
|
rs730881613
|
|
NM_000059.4(BRCA2):c.7595_7596insTT (p.Ala2534fs)
|
rs80359666
|
|
NM_000059.4(BRCA2):c.7598_7617+263del
|
rs1555286303
|
|
NM_000059.4(BRCA2):c.7602del (p.Cys2535fs)
|
rs876658470
|
|
NM_000059.4(BRCA2):c.7612A>T (p.Lys2538Ter)
|
rs397507921
|
|
NM_000059.4(BRCA2):c.7615C>T (p.Gln2539Ter)
|
rs886040720
|
|
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.7623T>G (p.Tyr2541Ter)
|
rs2137566100
|
|
NM_000059.4(BRCA2):c.7624dup (p.Thr2542fs)
|
rs886040721
|
|
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.7665_7666insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACGAGGTCACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGCAAA (p.Asn2556fs)
|
|
|
NM_000059.4(BRCA2):c.7667del (p.Asn2556fs)
|
rs878853303
|
|
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.7690_7691del (p.His2563_Thr2564insTer)
|
|
|
NM_000059.4(BRCA2):c.7697dup (p.Asp2566fs)
|
rs397507934
|
|
NM_000059.4(BRCA2):c.7700del (p.Tyr2567fs)
|
|
|
NM_000059.4(BRCA2):c.7707del (p.Lys2570fs)
|
rs397507935
|
|
NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter)
|
rs876659346
|
|
NM_000059.4(BRCA2):c.770del (p.Asn257fs)
|
rs2072387067
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
NM_000059.4(BRCA2):c.7718del (p.Leu2573fs)
|
|
|
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.7728_7732del (p.Lys2577fs)
|
rs2137567117
|
|
NM_000059.4(BRCA2):c.7729A>T (p.Lys2577Ter)
|
rs2137567147
|
|
NM_000059.4(BRCA2):c.7731del (p.Gly2578fs)
|
rs2072710066
|
|
NM_000059.4(BRCA2):c.7734_7744del (p.Gly2578_Ile2579insTer)
|
|
|
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)
|
rs80358999
|
|
NM_000059.4(BRCA2):c.7739dup (p.Leu2581fs)
|
rs1593920939
|
|
NM_000059.4(BRCA2):c.7745_7751del (p.Ala2582fs)
|
rs1593920945
|
|
NM_000059.4(BRCA2):c.7745del (p.Ala2582fs)
|
|
|
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)
|
rs75096777
|
|
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.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)
|
rs80359679
|
|
NM_000059.4(BRCA2):c.7767del (p.Ser2590fs)
|
rs2137567531
|
|
NM_000059.4(BRCA2):c.7768_7769dup (p.Asn2591fs)
|
rs2137567568
|
|
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)
|
rs587782028
|
|
NM_000059.4(BRCA2):c.7781del (p.Lys2594fs)
|
rs886040729
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
NM_000059.4(BRCA2):c.7791del (p.Glu2598fs)
|
rs80359681
|
|
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.7805+2T>C
|
rs886040941
|
|
NM_000059.4(BRCA2):c.7806-1G>A
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-1G>C
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-1G>T
|
rs81002860
|
|
NM_000059.4(BRCA2):c.7806-2A>C
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7806-9T>G
|
rs397507939
|
|
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.7816dup (p.Asp2606fs)
|
rs1593923900
|
|
NM_000059.4(BRCA2):c.7819del (p.Thr2607fs)
|
rs1060502478
|
|
NM_000059.4(BRCA2):c.7823dup (p.Gly2609fs)
|
rs1555286824
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7829dup (p.Asp2611fs)
|
rs1555286826
|
|
NM_000059.4(BRCA2):c.782del (p.Ala261fs)
|
|
|
NM_000059.4(BRCA2):c.7833_7847delinsGTTTA (p.Asp2611fs)
|
rs2072744986
|
|
NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs)
|
rs886040867
|
|
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)
|
rs397507940
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
NM_000059.4(BRCA2):c.7855del (p.Trp2619fs)
|
rs587781665
|
|
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)
|
rs397507941
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
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.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)
|
rs587781506
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter)
|
rs80359015
|
|
NM_000059.4(BRCA2):c.7895dup (p.Ala2633fs)
|
rs2137577202
|
|
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.7908T>A (p.Cys2636Ter)
|
rs80359016
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
NM_000059.4(BRCA2):c.7919_7928del (p.Lys2640fs)
|
rs879255333
|
|
NM_000059.4(BRCA2):c.793+1G>C
|
rs81002846
|
|
NM_000059.4(BRCA2):c.793+1G>T
|
rs81002846
|
|
NM_000059.4(BRCA2):c.793+2T>G
|
rs886040942
|
|
NM_000059.4(BRCA2):c.7934_7935insGCAATTTGCTAAT (p.Cys2646fs)
|
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)
|
rs863224828
|
|
NM_000059.4(BRCA2):c.7954del (p.Val2652fs)
|
rs80359689
|
|
NM_000059.4(BRCA2):c.7956_7959dup (p.Leu2654fs)
|
rs2137577850
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs)
|
rs1566244965
|
|
NM_000059.4(BRCA2):c.7959del (p.Leu2654fs)
|
rs1566244965
|
|
NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)
|
rs397507395
|
|
NM_000059.4(BRCA2):c.7969A>T (p.Lys2657Ter)
|
|
|
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)
|
rs80359025
|
|
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter)
|
rs80359025
|
|
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>A
|
rs886040943
|
|
NM_000059.4(BRCA2):c.7976+4A>G
|
rs876659445
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-1G>T
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)
|
rs730881614
|
|
NM_000059.4(BRCA2):c.7980T>A (p.Tyr2660Ter)
|
rs397507949
|
|
NM_000059.4(BRCA2):c.7984dup (p.Thr2662fs)
|
rs886040737
|
|
NM_000059.4(BRCA2):c.7985dup (p.Glu2663fs)
|
rs1555286933
|
|
NM_000059.4(BRCA2):c.7987del (p.Glu2663fs)
|
rs886040738
|
|
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.79dup (p.Ile27fs)
|
rs2072284097
|
|
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.8009C>G (p.Ser2670Trp)
|
rs80359035
|
|
NM_000059.4(BRCA2):c.8009del (p.Ser2670fs)
|
rs876659606
|
|
NM_000059.4(BRCA2):c.8015del (p.Ile2672fs)
|
rs2137579971
|
|
NM_000059.4(BRCA2):c.8021del (p.Lys2674fs)
|
rs397507952
|
|
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)
|
rs397507952
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter)
|
rs1555286958
|
|
NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)
|
rs80359691
|
|
NM_000059.4(BRCA2):c.8042_8043del (p.Thr2681fs)
|
rs276174901
|
|
NM_000059.4(BRCA2):c.8047_8054dup (p.Leu2686fs)
|
rs397507957
|
|
NM_000059.4(BRCA2):c.8053del (p.Thr2685fs)
|
rs397507958
|
|
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs)
|
rs397507958
|
|
NM_000059.4(BRCA2):c.8058del (p.Val2687fs)
|
rs80359692
|
|
NM_000059.4(BRCA2):c.805dup (p.Thr269fs)
|
rs886040744
|
|
NM_000059.4(BRCA2):c.8064_8065dup (p.Cys2689fs)
|
|
|
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.806del (p.Thr269fs)
|
rs2072397533
|
|
NM_000059.4(BRCA2):c.8070_8071dup (p.Ser2691fs)
|
rs397507962
|
|
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
|
rs80359050
|
|
NM_000059.4(BRCA2):c.8096del (p.Asn2699fs)
|
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
NM_000059.4(BRCA2):c.8099dup (p.Ser2701fs)
|
|
|
NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter)
|
rs276174902
|
|
NM_000059.4(BRCA2):c.809del (p.Thr269_Ser270insTer)
|
|
|
NM_000059.4(BRCA2):c.8110_8111insAGCAATAAAACTAGTAGTGCAGCTGAAAC (p.Ser2704Ter)
|
rs2137580829
|
|
NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer)
|
rs1555287001
|
|
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs)
|
rs80359696
|
|
NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter)
|
rs80359058
|
|
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)
|
rs863224469
|
|
NM_000059.4(BRCA2):c.8145del (p.Val2716fs)
|
rs1135401923
|
|
NM_000059.4(BRCA2):c.8147del (p.Val2716fs)
|
rs1566245525
|
|
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs)
|
rs2137581286
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8165_8166del (p.Thr2722fs)
|
|
|
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.8172_8175dup (p.Tyr2726fs)
|
rs397507964
|
|
NM_000059.4(BRCA2):c.8172del (p.Trp2725fs)
|
|
|
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.8178T>A (p.Tyr2726Ter)
|
rs761595544
|
|
NM_000059.4(BRCA2):c.8181del (p.Val2728fs)
|
|
|
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter)
|
rs80359068
|
|
NM_000059.4(BRCA2):c.818C>G (p.Ser273Ter)
|
rs80359068
|
|
NM_000059.4(BRCA2):c.8191del (p.Gln2731fs)
|
rs1555287033
|
|
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.8208_8209del (p.Leu2737fs)
|
rs2072758927
|
|
NM_000059.4(BRCA2):c.8208_8209insAG (p.Leu2737fs)
|
rs483353122
|
|
NM_000059.4(BRCA2):c.8210T>A (p.Leu2737Ter)
|
rs1566245715
|
|
NM_000059.4(BRCA2):c.8210T>G (p.Leu2737Ter)
|
rs1566245715
|
|
NM_000059.4(BRCA2):c.8212_8215del (p.Ala2738fs)
|
rs2072759086
|
|
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)
|
rs80359070
|
|
NM_000059.4(BRCA2):c.8223del (p.Asn2742fs)
|
rs878853608
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.8234_8237del (p.Leu2745fs)
|
rs80359699
|
|
NM_000059.4(BRCA2):c.8234_8237dup (p.Val2747fs)
|
rs80359699
|
|
NM_000059.4(BRCA2):c.8234dup (p.Thr2746fs)
|
rs276174903
|
|
NM_000059.4(BRCA2):c.8235_8236insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGACTG (p.Leu2745_Thr2746insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysAsnGlyArgLeu)
|
|
|
NM_000059.4(BRCA2):c.8237_8238del (p.Thr2746fs)
|
rs80359700
|
|
NM_000059.4(BRCA2):c.8245C>T (p.Gln2749Ter)
|
rs1135401925
|
|
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)
|
rs80359701
|
|
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)
|
rs80359704
|
|
NM_000059.4(BRCA2):c.8266_8267dup (p.Glu2757fs)
|
rs2137582429
|
|
NM_000059.4(BRCA2):c.8268del (p.Glu2757fs)
|
rs1593925596
|
|
NM_000059.4(BRCA2):c.8271del (p.Glu2757fs)
|
rs1555287071
|
|
NM_000059.4(BRCA2):c.8275_8287del (p.Val2759fs)
|
|
|
NM_000059.4(BRCA2):c.8276_8279del (p.Val2759fs)
|
rs886040753
|
|
NM_000059.4(BRCA2):c.8278_8279insTTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGG (p.Gly2760delinsValTer)
|
rs2137581823
|
|
NM_000059.4(BRCA2):c.8279dup (p.Ser2761fs)
|
|
|
NM_000059.4(BRCA2):c.8283_8284del (p.Ser2761_Pro2762insTer)
|
|
|
NM_000059.4(BRCA2):c.8298_8299del (p.Pro2767fs)
|
rs397507973
|
|
NM_000059.4(BRCA2):c.8298_8299dup (p.Pro2767fs)
|
rs397507973
|
|
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.8323_8324dup (p.Met2775fs)
|
rs2072761372
|
|
NM_000059.4(BRCA2):c.8327_8328insSVAelement
|
|
|
NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter)
|
rs886037818
|
|
NM_000059.4(BRCA2):c.8330del (p.Lys2777fs)
|
rs886040762
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+1G>C
|
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)
|
rs80359707
|
|
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.8366dup (p.Tyr2789Ter)
|
rs1566248731
|
|
NM_000059.4(BRCA2):c.8370_8371delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2791fs)
|
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8378dup (p.Phe2794fs)
|
|
|
NM_000059.4(BRCA2):c.8393_8396dup (p.Arg2799delinsSerTer)
|
rs886040768
|
|
NM_000059.4(BRCA2):c.8393del (p.Pro2798fs)
|
|
|
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.8403del (p.Pro2802fs)
|
rs1593930303
|
|
NM_000059.4(BRCA2):c.8405del (p.Pro2802fs)
|
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
NM_000059.4(BRCA2):c.8414dup (p.Leu2805fs)
|
|
|
NM_000059.4(BRCA2):c.8416del (p.Ser2806fs)
|
rs1566248843
|
|
NM_000059.4(BRCA2):c.8417C>A (p.Ser2806Ter)
|
rs587782785
|
|
NM_000059.4(BRCA2):c.8417C>G (p.Ser2806Ter)
|
rs587782785
|
|
NM_000059.4(BRCA2):c.8419_8428del (p.Ser2807fs)
|
rs869312760
|
|
NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter)
|
rs55763607
|
|
NM_000059.4(BRCA2):c.8426del (p.Phe2809fs)
|
rs1555287643
|
|
NM_000059.4(BRCA2):c.8426dup (p.Ser2810fs)
|
rs1555287643
|
|
NM_000059.4(BRCA2):c.8433_8439del (p.Asp2811fs)
|
rs2072821629
|
|
NM_000059.4(BRCA2):c.8434_8435insC (p.Gly2812fs)
|
rs886040774
|
|
NM_000059.4(BRCA2):c.8437G>T (p.Gly2813Ter)
|
rs2137597605
|
|
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.8463dup (p.Ile2822fs)
|
rs397507988
|
|
NM_000059.4(BRCA2):c.846_847del (p.Ile283fs)
|
rs886040776
|
|
NM_000059.4(BRCA2):c.8472_8473del (p.Arg2824fs)
|
rs1566248936
|
|
NM_000059.4(BRCA2):c.8474del (p.Ala2825fs)
|
rs80359711
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
NM_000059.4(BRCA2):c.8479_8487+8del
|
rs1566248961
|
|
NM_000059.4(BRCA2):c.8480del (p.Pro2827fs)
|
|
|
NM_000059.4(BRCA2):c.8482dup (p.Ile2828fs)
|
|
|
NM_000059.4(BRCA2):c.8483_8484insGAATATGAAAT (p.Ile2828fs)
|
|
|
NM_000059.4(BRCA2):c.8484dup (p.Gln2829fs)
|
rs2137598136
|
|
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)
|
rs80359099
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8487+1G>C
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8487+1G>T
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8487+2T>A
|
rs886040944
|
|
NM_000059.4(BRCA2):c.8487+2T>C
|
rs886040944
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1G>C
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-2A>C
|
rs773272765
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)
|
rs587776351
|
|
NM_000059.4(BRCA2):c.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.8504C>G (p.Ser2835Ter)
|
rs80359102
|
|
NM_000059.4(BRCA2):c.8507_8508dup (p.Gly2837fs)
|
rs2137599900
|
|
NM_000059.4(BRCA2):c.8515_8516del (p.Tyr2839fs)
|
rs1566249217
|
|
NM_000059.4(BRCA2):c.8517C>G (p.Tyr2839Ter)
|
rs863224315
|
|
NM_000059.4(BRCA2):c.8523del (p.Arg2842fs)
|
rs2137600028
|
|
NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs)
|
rs397507990
|
|
NM_000059.4(BRCA2):c.8535_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8535del (p.Glu2846fs)
|
|
|
NM_000059.4(BRCA2):c.8536G>T (p.Glu2846Ter)
|
rs886040781
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)
|
rs80359110
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
NM_000059.4(BRCA2):c.8550del (p.Ala2851fs)
|
rs2137600297
|
|
NM_000059.4(BRCA2):c.8559del (p.Lys2853fs)
|
rs2072829506
|
|
NM_000059.4(BRCA2):c.8560del (p.Tyr2854fs)
|
rs80359717
|
|
NM_000059.4(BRCA2):c.8561_8568dup (p.Ala2857fs)
|
rs2072829618
|
|
NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter)
|
rs786201333
|
|
NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)
|
rs786201333
|
|
NM_000059.4(BRCA2):c.8562del (p.Lys2853_Tyr2854insTer)
|
rs886040782
|
|
NM_000059.4(BRCA2):c.8566del (p.Glu2856fs)
|
rs886040783
|
|
NM_000059.4(BRCA2):c.8569del (p.Ala2857fs)
|
rs2137600531
|
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
rs80359115
|
|
NM_000059.4(BRCA2):c.8578_8579del (p.Lys2860fs)
|
rs80359719
|
|
NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)
|
rs80359719
|
|
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.8582_8583del (p.Arg2861fs)
|
rs1593931185
|
|
NM_000059.4(BRCA2):c.8585_8586del (p.Leu2862fs)
|
rs878853611
|
|
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.859del (p.Met287fs)
|
rs2137465341
|
|
NM_000059.4(BRCA2):c.8606_8607del (p.Ile2869fs)
|
|
|
NM_000059.4(BRCA2):c.8607del (p.Gln2870fs)
|
rs1060502471
|
|
NM_000059.4(BRCA2):c.8622dup (p.Glu2875fs)
|
rs2137601092
|
|
NM_000059.4(BRCA2):c.8627del (p.His2876fs)
|
|
|
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter)
|
rs80359121
|
|
NM_000059.4(BRCA2):c.8629del (p.Glu2877fs)
|
rs2072831157
|
|
NM_000059.4(BRCA2):c.8632+1G>A
|
rs397507997
|
|
NM_000059.4(BRCA2):c.8632+2T>C
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
NM_000059.4(BRCA2):c.8633-2A>C
|
rs81002886
|
|
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.8642del (p.Thr2881fs)
|
|
|
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)
|
rs397508000
|
|
NM_000059.4(BRCA2):c.8646del (p.Lys2882fs)
|
rs886040785
|
|
NM_000059.4(BRCA2):c.8648del (p.Pro2883fs)
|
rs276174910
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
NM_000059.4(BRCA2):c.8660C>A (p.Ser2887Ter)
|
|
|
NM_000059.4(BRCA2):c.8663del (p.Arg2888fs)
|
rs1555288145
|
|
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.8680del (p.Gln2894fs)
|
rs397507410
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
NM_000059.4(BRCA2):c.8702del (p.Gly2901fs)
|
rs1566251448
|
|
NM_000059.4(BRCA2):c.8706del (p.Glu2903fs)
|
rs2137613060
|
|
NM_000059.4(BRCA2):c.8717_8718del (p.Glu2906fs)
|
rs397508003
|
|
NM_000059.4(BRCA2):c.8722del (p.Ala2907_Val2908insTer)
|
|
|
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)
|
rs2072875960
|
|
NM_000059.4(BRCA2):c.8729_8738del (p.Asn2910fs)
|
rs1593934969
|
|
NM_000059.4(BRCA2):c.8745_8748dup (p.Glu2918fs)
|
rs80359727
|
|
NM_000059.4(BRCA2):c.8748C>A (p.Tyr2916Ter)
|
rs2137613497
|
|
NM_000059.4(BRCA2):c.8749dup (p.Leu2917fs)
|
rs2072876426
|
|
NM_000059.4(BRCA2):c.8752G>T (p.Glu2918Ter)
|
|
|
NM_000059.4(BRCA2):c.8754+1G>A
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1G>C
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754+5G>C
|
rs81002813
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-1G>C
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8755-2A>T
|
rs1566252482
|
|
NM_000059.4(BRCA2):c.8755_8773dup (p.Gln2925delinsArgLeuPheGlnTer)
|
rs1593936493
|
|
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter)
|
rs80359133
|
|
NM_000059.4(BRCA2):c.8770dup (p.Glu2924fs)
|
rs2137619040
|
|
NM_000059.4(BRCA2):c.8776_8801dup (p.Gln2934delinsHisTer)
|
rs2137619109
|
|
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.8777dup (p.Leu2926fs)
|
rs2137619100
|
|
NM_000059.4(BRCA2):c.8793_8797del (p.Asn2931fs)
|
|
|
NM_000059.4(BRCA2):c.87_88insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGACCAATAAGTCTT (p.Asn30delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
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.8820_8823del (p.Gln2941fs)
|
rs397508011
|
|
NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)
|
rs397508012
|
|
NM_000059.4(BRCA2):c.8827C>T (p.Gln2943Ter)
|
rs2137619580
|
|
NM_000059.4(BRCA2):c.8829_8830del (p.Gln2943fs)
|
rs2137619603
|
|
NM_000059.4(BRCA2):c.8829_8830insGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTAAGAAACAAGCTCAGNNNNNNNNNNNNNNAAAAAAAAAAAAA (p.Ile2944delinsAspProValGlyAsnTer)
|
rs2137619621
|
|
NM_000059.4(BRCA2):c.8829_8830insGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAAGCTCAG (p.Ile2944delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2137619466
|
|
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.8850_8851dup (p.Ala2951fs)
|
rs886040796
|
|
NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter)
|
rs775261666
|
|
NM_000059.4(BRCA2):c.8857_8863del (p.Glu2953fs)
|
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)
|
rs276174913
|
|
NM_000059.4(BRCA2):c.8875dup (p.Glu2959fs)
|
rs2137620036
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8886_8950del (p.Leu2962fs)
|
rs1555288389
|
|
NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter)
|
rs886040798
|
|
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)
|
rs397508017
|
|
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.8909G>A (p.Trp2970Ter)
|
rs1555288397
|
|
NM_000059.4(BRCA2):c.8912del (p.Lys2971fs)
|
rs80359731
|
|
NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)
|
rs80359142
|
|
NM_000059.4(BRCA2):c.8915del (p.Leu2972fs)
|
rs397508019
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
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.8933C>A (p.Ser2978Ter)
|
rs80359144
|
|
NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter)
|
rs80359144
|
|
NM_000059.4(BRCA2):c.8934_8935delinsC (p.Glu2981fs)
|
|
|
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)
|
rs2072903033
|
|
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.8941_8945del (p.Glu2981fs)
|
|
|
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>A
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8954-1_8955delinsAA
|
rs276174916
|
|
NM_000059.4(BRCA2):c.8954-2_8959del
|
rs1566252995
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.8954-8_9136del
|
rs1555288431
|
|
NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)
|
rs397508024
|
|
NM_000059.4(BRCA2):c.8960del (p.Leu2987fs)
|
rs2137621956
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.8967_8973del (p.Trp2990fs)
|
rs1593937297
|
|
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.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter)
|
rs397508025
|
|
NM_000059.4(BRCA2):c.897dup (p.Val300fs)
|
rs1566222289
|
|
NM_000059.4(BRCA2):c.8982dup (p.Asp2995fs)
|
rs2072908049
|
|
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.8999T>A (p.Leu3000Ter)
|
rs80359151
|
|
NM_000059.4(BRCA2):c.899_900insTC (p.Asp301fs)
|
|
|
NM_000059.4(BRCA2):c.89dup (p.Asn30fs)
|
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9008del (p.Gly3003fs)
|
rs2072908679
|
|
NM_000059.4(BRCA2):c.9012del (p.Arg3005fs)
|
rs2137622570
|
|
NM_000059.4(BRCA2):c.9014_9015del (p.Arg3005fs)
|
rs876661023
|
|
NM_000059.4(BRCA2):c.9017dup (p.Tyr3006Ter)
|
rs886040810
|
|
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.9024_9046del (p.Ile3008_Tyr3009insTer)
|
rs886040812
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter)
|
rs864622568
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
NM_000059.4(BRCA2):c.9028_9029insTTCC (p.His3010fs)
|
|
|
NM_000059.4(BRCA2):c.9036_9037insTGATACAGAATTTATCATCTTGCA (p.Thr3013Ter)
|
rs2137622613
|
|
NM_000059.4(BRCA2):c.9037del (p.Thr3013fs)
|
rs2137622915
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
NM_000059.4(BRCA2):c.904dup (p.Thr302fs)
|
rs1555281627
|
|
NM_000059.4(BRCA2):c.9054_9055del (p.Ser3018fs)
|
rs80359743
|
|
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.9076_9077del (p.Gln3026fs)
|
rs2137623373
|
|
NM_000059.4(BRCA2):c.9078_9096dup (p.Thr3033fs)
|
rs2137623395
|
|
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.9105T>A (p.Tyr3035Ter)
|
rs886040819
|
|
NM_000059.4(BRCA2):c.9106C>T (p.Gln3036Ter)
|
rs202155613
|
|
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)
|
rs397508037
|
|
NM_000059.4(BRCA2):c.9113dup (p.Pro3039fs)
|
rs2072911261
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
NM_000059.4(BRCA2):c.9117+1del
|
rs869320801
|
|
NM_000059.4(BRCA2):c.9117+2T>G
|
|
|
NM_000059.4(BRCA2):c.9118-1G>A
|
rs886040950
|
|
NM_000059.4(BRCA2):c.9118-2A>T
|
rs81002862
|
|
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)
|
rs398122610
|
|
NM_000059.4(BRCA2):c.9138del (p.Gln3047fs)
|
rs2137624652
|
|
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.9177dup (p.Phe3060fs)
|
rs80359751
|
|
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.918_919del (p.Asp306fs)
|
rs1555281631
|
|
NM_000059.4(BRCA2):c.9194_9195del (p.Phe3065fs)
|
rs587782378
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
NM_000059.4(BRCA2):c.9195del (p.Gln3066fs)
|
rs587782378
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.919_922dup (p.Phe308Ter)
|
rs1593891502
|
|
NM_000059.4(BRCA2):c.91del (p.Trp31fs)
|
rs1566215685
|
|
NM_000059.4(BRCA2):c.9200_9201insCT (p.Ser3068fs)
|
rs2137625334
|
|
NM_000059.4(BRCA2):c.9207T>A (p.Cys3069Ter)
|
rs80359183
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
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.9231_9232insCAGGATTT (p.Val3078fs)
|
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter)
|
rs80359190
|
|
NM_000059.4(BRCA2):c.9250A>T (p.Lys3084Ter)
|
|
|
NM_000059.4(BRCA2):c.9252_9255del (p.Thr3085fs)
|
rs2137625887
|
|
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.9254_9255delinsTT (p.Thr3085Ile)
|
rs2137625941
|
|
NM_000059.4(BRCA2):c.9256+1G>A
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+1G>C
|
rs81002883
|
|
NM_000059.4(BRCA2):c.9256+2T>C
|
rs1555288591
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9257-1G>A
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
NM_000059.4(BRCA2):c.9257-2A>T
|
rs886040954
|
|
NM_000059.4(BRCA2):c.925del (p.Ser309fs)
|
rs886038058
|
|
NM_000059.4(BRCA2):c.925dup (p.Ser309fs)
|
rs886038058
|
|
NM_000059.4(BRCA2):c.9262del (p.Ala3088fs)
|
rs786203843
|
|
NM_000059.4(BRCA2):c.9268_9280del (p.Phe3090fs)
|
|
|
NM_000059.4(BRCA2):c.9270_9271insTATTT (p.Val3091fs)
|
rs1555289501
|
|
NM_000059.4(BRCA2):c.9270del (p.Phe3090fs)
|
rs878853619
|
|
NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs)
|
rs397507424
|
|
NM_000059.4(BRCA2):c.9275_9276del (p.Tyr3092fs)
|
rs397508043
|
|
NM_000059.4(BRCA2):c.9275_9278del (p.Tyr3092fs)
|
rs80359754
|
|
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)
|
rs80359197
|
|
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly)
|
rs1060502443
|
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
rs80359198
|
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
rs80359198
|
|
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)
|
rs80359199
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
NM_000059.4(BRCA2):c.9289_9293dup (p.Asn3099fs)
|
|
|
NM_000059.4(BRCA2):c.9290_9293del (p.Cys3097fs)
|
rs1555289508
|
|
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)
|
rs397508044
|
|
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)
|
rs80359200
|
|
NM_000059.4(BRCA2):c.929dup (p.Leu310fs)
|
|
|
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.9311_9312insTTAT (p.Lys3104fs)
|
rs886040830
|
|
NM_000059.4(BRCA2):c.9312del (p.Lys3104fs)
|
|
|
NM_000059.4(BRCA2):c.9315_9316del (p.Phe3105fs)
|
|
|
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.931del (p.Cys311fs)
|
rs2137466012
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
NM_000059.4(BRCA2):c.9331_9335del (p.Glu3111fs)
|
rs2137652728
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
NM_000059.4(BRCA2):c.9342_9343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGAGGACATTATT (p.Lys3115delinsPhePhePhePhePhePhePhePhePhePhePhePhePheGluThrGluSerArgSerValAlaGlnAlaGlyLeuTrpThrAlaValAlaGlnSerArgLeuThrAlaSerSerAlaSerArgValHisAlaIleLeuLeuProGlnProProGluTer)
|
rs2137652666
|
|
NM_000059.4(BRCA2):c.9343A>T (p.Lys3115Ter)
|
|
|
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>G (p.Leu3119Ter)
|
rs80359207
|
|
NM_000059.4(BRCA2):c.9357_9360del (p.Ile3120fs)
|
rs886040836
|
|
NM_000059.4(BRCA2):c.9369del (p.Ser3123fs)
|
|
|
NM_000059.4(BRCA2):c.9370_9381del (p.Asn3124_Trp3127del)
|
rs2137653262
|
|
NM_000059.4(BRCA2):c.9373_9376del (p.Leu3125fs)
|
rs2137653303
|
|
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)
|
rs80359210
|
|
NM_000059.4(BRCA2):c.9379del (p.Trp3127fs)
|
|
|
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.93G>A (p.Trp31Ter)
|
rs80359214
|
|
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)
|
rs80359759
|
|
NM_000059.4(BRCA2):c.9408del (p.Thr3137fs)
|
rs80359761
|
|
NM_000059.4(BRCA2):c.9409_9412del (p.Thr3137fs)
|
rs876659211
|
|
NM_000059.4(BRCA2):c.9413T>G (p.Leu3138Ter)
|
rs886040838
|
|
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)
|
rs876659435
|
|
NM_000059.4(BRCA2):c.9422del (p.Gly3141fs)
|
|
|
NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)
|
rs80359762
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9439dup (p.Ser3147fs)
|
rs2073024441
|
|
NM_000059.4(BRCA2):c.9441dup (p.Ala3148fs)
|
rs2137654056
|
|
NM_000059.4(BRCA2):c.9444del (p.Ser3149fs)
|
rs1593199940
|
|
NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter)
|
rs80359218
|
|
NM_000059.4(BRCA2):c.9455_9456dup (p.Gly3153fs)
|
rs80359764
|
|
NM_000059.4(BRCA2):c.9455del (p.Glu3152fs)
|
rs2137654231
|
|
NM_000059.4(BRCA2):c.9458del (p.Gly3153fs)
|
rs397508052
|
|
NM_000059.4(BRCA2):c.9465del (p.Gln3156fs)
|
rs1296301971
|
|
NM_000059.4(BRCA2):c.9466_9467insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAGGGCCACTTTC (p.Gln3156delinsLeuPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2137654181
|
|
NM_000059.4(BRCA2):c.9466del (p.Gln3156fs)
|
rs80359766
|
|
NM_000059.4(BRCA2):c.9474del (p.Phe3159fs)
|
rs397508054
|
|
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter)
|
rs80359222
|
|
NM_000059.4(BRCA2):c.9487A>T (p.Lys3163Ter)
|
rs2137654496
|
|
NM_000059.4(BRCA2):c.9498del (p.Glu3167fs)
|
rs397508055
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
NM_000059.4(BRCA2):c.950del (p.Thr317fs)
|
rs2137466181
|
|
NM_000059.4(BRCA2):c.9513_9516del (p.Leu3172fs)
|
rs80359769
|
|
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)
|
rs397507430
|
|
NM_000059.4(BRCA2):c.9534del (p.Asn3178fs)
|
rs2073040366
|
|
NM_000059.4(BRCA2):c.9537dup (p.Leu3180fs)
|
rs397508061
|
|
NM_000059.4(BRCA2):c.9542dup (p.Met3181fs)
|
rs2137658996
|
|
NM_000059.4(BRCA2):c.955_958dup (p.Leu320fs)
|
|
|
NM_000059.4(BRCA2):c.956del (p.Asn319fs)
|
rs80359770
|
|
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.9581dup (p.Thr3195fs)
|
|
|
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.9595_9596dup (p.Ser3200fs)
|
rs2073041452
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
NM_000059.4(BRCA2):c.959del (p.Leu320fs)
|
rs1060502454
|
|
NM_000059.4(BRCA2):c.9616C>T (p.Gln3206Ter)
|
rs80359233
|
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
rs80359234
|
|
NM_000059.4(BRCA2):c.9633dup (p.Gly3212fs)
|
rs1555289805
|
|
NM_000059.4(BRCA2):c.963_966del (p.Gln321_Lys322insTer)
|
rs1566222463
|
|
NM_000059.4(BRCA2):c.9649-1G>T
|
rs1555289898
|
|
NM_000059.4(BRCA2):c.964A>T (p.Lys322Ter)
|
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)
|
rs1593201632
|
|
NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)
|
rs1593201647
|
|
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.968_971del (p.Val323fs)
|
rs886040847
|
|
NM_000059.4(BRCA2):c.9690_9696del (p.Leu3230fs)
|
rs2137662870
|
|
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)
|
rs1593201677
|
|
NM_000059.4(BRCA2):c.9697del (p.Cys3233fs)
|
|
|
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.9706A>T (p.Lys3236Ter)
|
rs80359239
|
|
NM_000059.4(BRCA2):c.9709_9713del (p.Arg3237fs)
|
|
|
NM_000059.4(BRCA2):c.971del (p.Arg324fs)
|
|
|
NM_000059.4(BRCA2):c.9728del (p.Pro3243fs)
|
rs730881618
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
NM_000059.4(BRCA2):c.9756_9759dup (p.Lys3254delinsLeuTer)
|
|
|
NM_000059.4(BRCA2):c.9766G>T (p.Glu3256Ter)
|
|
|
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.9772_9775del (p.Glu3258fs)
|
rs1593201811
|
|
NM_000059.4(BRCA2):c.9774_9775del (p.Glu3258fs)
|
|
|
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)
|
rs1593201815
|
|
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)
|
rs886040851
|
|
NM_000059.4(BRCA2):c.979A>T (p.Lys327Ter)
|
rs80359242
|
|
NM_000059.4(BRCA2):c.97G>T (p.Glu33Ter)
|
rs397508065
|
|
NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs)
|
rs1566261027
|
|
NM_000059.4(BRCA2):c.9805dup (p.Arg3269fs)
|
|
|
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)
|
rs398122622
|
|
NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)
|
rs1555289966
|
|
NM_000059.4(BRCA2):c.9824del (p.Ser3275fs)
|
rs398122623
|
|
NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)
|
rs886040852
|
|
NM_000059.4(BRCA2):c.9836dup (p.Leu3279fs)
|
rs2137664254
|
|
NM_000059.4(BRCA2):c.9846del (p.Val3283fs)
|
rs2073051761
|
|
NM_000059.4(BRCA2):c.9855del (p.Ile3286fs)
|
rs2073051840
|
|
NM_000059.4(BRCA2):c.9868del (p.Val3290fs)
|
rs80359776
|
|
NM_000059.4(BRCA2):c.986_987insC (p.Arg329fs)
|
|
|
NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)
|
rs886040854
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
NM_000059.4(BRCA2):c.9887del (p.Lys3296fs)
|
rs1555289992
|
|
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)
|
rs1555289997
|
|
NM_000059.4(BRCA2):c.9902del (p.Pro3301fs)
|
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000059.4(BRCA2):c.993_994del (p.Lys331fs)
|
rs80359777
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000059.4(BRCA2):c.998dup (p.His334fs)
|
rs397507437
|
|
Single allele
|
|
|