Description of the mutations of BRCA1 (NM_007294) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC402813 | v11A | 11 | 32 | T>C | Breast cancer |
| RC402814 | Q12X | 12 | 34 | C>T | Breast cancer |
| RC402815 | I15T | 15 | 44 | T>C | Breast and/or ovarian Cancer |
| RC402816 | M18T | 18 | 53 | T>C | Breast cancer |
| RC402817 | M18K | 18 | 53 | T>A | Ovarian cancer |
| RC402818 | Q19X | 19 | 55 | C>T | Breast and/or ovarian cancer |
| RC402819 | I21v | 21 | 61 | A>G | Breast cancer |
| RC402820 | L22S | 22 | 65 | T>C | Breast cancer |
| RC402821 | C24Y | 24 | 71 | G>A | Breast and/or ovarian cancer |
| RC402822 | P25T | 25 | 73 | C>A | Breast and/or ovarian cancer |
| RC402823 | L28P | 28 | 83 | T>C | Breast and/or ovarian Cancer |
| RC402824 | L30X | 30 | 89 | T>A | Breast cancer |
| RC402825 | T37R | 37 | 110 | C>G | Breast and/or ovarian Cancer |
| RC402826 | K38N | 38 | 114 | G>T | Breast and/or ovarian Cancer |
| RC402827 | C39Y | 39 | 116 | G>A | Breast cancer |
| RC402828 | C39R | 39 | 115 | T>C | Breast and/or ovarian cancer |
| RC402829 | C39S | 39 | 115 | T>A | Breast and colorectal cancer |
| RC402830 | C39G | 39 | 115 | T>G | Breast and/or ovarian cancer |
| RC402831 | H41R | 41 | 122 | A>G | Breast and/or ovarian Cancer |
| RC402832 | C44F | 44 | 131 | G>T | Breast and/or ovarian Cancer |
| RC402833 | C44G | 44 | 130 | T>G | Breast and/or ovarian Cancer |
| RC402834 | K45N | 45 | 135 | A>T | Breast and/or ovarian Cancer |
| RC402835 | K45T | 45 | 134 | A>C | Breast and/or ovarian Cancer |
| RC402836 | C47Y | 47 | 140 | G>A | Breast and/or ovarian cancer |
| RC402837 | C47F | 47 | 140 | G>T | Breast and/or ovarian cancer |
| RC402838 | L52F | 52 | 154 | C>T | Breast Cancer |
| RC402839 | K56R | 56 | 167 | A>G | Breast and/or ovarian cancer |
| RC402840 | P58A | 58 | 172 | C>G | Breast and/or ovarian cancer |
| RC402841 | Q60X | 60 | 178 | C>T | Breast and/or ovarian cancer |
| RC402842 | C61Y | 61 | 182 | G>A | Breast and/or ovarian Cancer |
| RC402843 | C61G | 61 | 181 | T>G | Breast cancer |
| RC402844 | L63X | 63 | 188 | T>A | Breast cancer |
| RC402845 | L63S | 63 | 188 | T>C | Breast Cancer |
| RC402846 | C64Y | 64 | 191 | G>A | Breast cancer |
| RC402847 | C64G | 64 | 190 | T>G | Breast cancer |
| RC402848 | C64R | 64 | 190 | T>C | Breast cancer |
| RC402849 | D67E | 67 | 201 | T>G | Breast and/or ovarian cancer |
| RC402850 | I68K | 68 | 203 | T>A | Breast and/or ovarian Cancer |
| RC402851 | R71K | 71 | 212 | G>A | Breast and/or ovarian cancer |
| RC402852 | R71G | 71 | 211 | A>G | Breast and/or ovarian cancer |
| RC402853 | S72R | 72 | 216 | C>A | Breast and/or ovarian Cancer |
| RC402854 | Q74X | 74 | 220 | C>T | Breast cancer |
| RC402855 | Q81X | 81 | 241 | C>T | Breast and/or ovarian cancer |
| RC402856 | D96N | 96 | 286 | G>A | Breast and/or ovarian Cancer |
| RC402857 | G98R | 98 | 292 | G>C | Breast cancer |
| RC402858 | Y101X | 101 | 303 | T>G | Breast and/or ovarian cancer |
| RC402859 | Y105C | 105 | 314 | A>G | Breast cancer |
| RC402860 | K110T | 110 | 329 | A>C | Breast cancer |
| RC402861 | S114P | 114 | 340 | T>C | Breast cancer |
| RC402862 | E116K | 116 | 346 | G>A | Breast and/or ovarian cancer |
| RC402863 | Y130X | 130 | 390 | C>A | Breast and/or ovarian cancer |
| RC402864 | N132K | 132 | 396 | C>A | Breast and/or ovarian cancer |
| RC402865 | P142H | 142 | 425 | C>A | Breast Cancer |
| RC402866 | E143X | 143 | 427 | G>T | Breast and/or ovarian cancer |
| RC402867 | Q155X | 155 | 463 | C>T | Breast cancer |
| RC402868 | N158Y | 158 | 472 | A>T | Breast cancer |
| RC402869 | Q169X | 169 | 505 | C>T | Breast cancer |
| RC402870 | Q172X | 172 | 514 | C>T | Ovarian cancer |
| RC402871 | Y179C | 179 | 536 | A>G | Breast Cancer |
| RC402872 | S186F | 186 | 557 | C>T | Breast and/or ovarian cancer |
| RC402873 | S186A | 186 | 556 | T>G | Breast cancer |
| RC402874 | v191I | 191 | 571 | G>A | Breast and/or ovarian Cancer |
| RC402875 | Q206X | 206 | 616 | C>T | Breast cancer |
| RC402876 | C226X | 226 | 678 | T>A | Breast and/or ovarian cancer |
| RC402877 | L246v | 246 | 736 | T>G | Breast and/or ovarian cancer |
| RC402878 | E255X | 255 | 763 | G>T | Breast and/or ovarian cancer |
| RC402879 | Y261X | 261 | 783 | T>G | Breast cancer |
| RC402880 | G263A | 263 | 788 | G>C | Breast Cancer |
| RC402881 | G263v | 263 | 788 | G>T | Breast Cancer |
| RC402882 | G263C | 263 | 787 | G>T | Breast Cancer |
| RC402883 | S264R | 264 | 792 | T>G | Breast Cancer |
| RC402884 | S264N | 264 | 791 | G>A | Breast Cancer |
| RC402885 | S264C | 264 | 790 | A>T | Breast Cancer |
| RC402886 | v271M | 271 | 811 | G>A | Breast cancer |
| RC402887 | G275D | 275 | 824 | G>A | Breast cancer |
| RC402888 | G275S | 275 | 823 | G>A | Breast and/or ovarian cancer |
| RC402889 | Q284X | 284 | 850 | C>T | Breast cancer |
| RC402890 | Q310X | 310 | 928 | C>T | Ovarian cancer |
| RC402891 | W321X | 321 | 962 | G>A | Breast and/or ovarian cancer |
| RC402892 | K338X | 338 | 1012 | A>T | Breast cancer |
| RC402893 | E352X | 352 | 1054 | G>T | Ovarian cancer |
| RC402894 | W353X | 353 | 1058 | G>A | Breast cancer |
| RC402895 | K355X | 355 | 1063 | A>T | Breast cancer |
| RC402896 | Q356R | 356 | 1067 | A>G | Breast and/or ovarian Cancer |
| RC402897 | Q356X | 356 | 1066 | C>T | Breast cancer |
| RC402898 | P359L | 359 | 1076 | C>T | Breast cancer |
| RC402899 | W372X | 372 | 1116 | G>A | Breast and/or ovarian cancer |
| RC402900 | W372X | 372 | 1115 | G>A | Breast cancer |
| RC402901 | T374I | 374 | 1121 | C>T | Breast and/or ovarian cancer |
| RC402902 | I379M | 379 | 1137 | T>G | Breast cancer |
| RC402903 | Q380X | 380 | 1138 | C>T | Breast cancer |
| RC402904 | K381X | 381 | 1141 | A>T | Breast cancer |
| RC402905 | E421G | 421 | 1262 | A>G | Breast cancer |
| RC402906 | E427X | 427 | 1279 | G>T | Breast cancer |
| RC402907 | L431X | 431 | 1292 | T>G | Breast and/or ovarian cancer |
| RC402908 | C442X | 442 | 1326 | T>A | Breast cancer |
| RC402909 | E445X | 445 | 1333 | G>T | Breast cancer |
| RC402910 | H448Y | 448 | 1342 | C>T | Prostate cancer |
| RC402911 | S451X | 451 | 1352 | C>A | Breast and/or ovarian cancer |
| RC402912 | F461L | 461 | 1381 | T>C | Breast cancer |
| RC402913 | Y465D | 465 | 1393 | T>G | Breast cancer |
| RC402914 | K467X | 467 | 1399 | A>T | Breast and/or ovarian cancer |
| RC402915 | L474X | 474 | 1421 | T>G | Breast and/or ovarian cancer |
| RC402916 | G484X | 484 | 1450 | G>T | Breast cancer |
| RC402917 | F486L | 486 | 1458 | T>A | Breast cancer |
| RC402918 | E489X | 489 | 1465 | G>T | Breast cancer |
| RC402919 | Q491X | 491 | 1471 | C>T | Breast and/or ovarian cancer |
| RC402920 | Q494X | 494 | 1480 | C>T | Breast and/or ovarian cancer |
| RC402921 | R496H | 496 | 1487 | G>A | Breast and/or ovarian cancer |
| RC402922 | R496C | 496 | 1486 | C>T | Breast and/or ovarian cancer |
| RC402923 | K505X | 505 | 1513 | A>T | Breast cancer |
| RC402924 | R507I | 507 | 1520 | G>T | Breast cancer |
| RC402925 | S510X | 510 | 1529 | C>G | Breast cancer |
| RC402926 | E515G | 515 | 1544 | A>G | Breast Cancer |
| RC402927 | L523W | 523 | 1568 | T>G | Breast cancer |
| RC402928 | Q526X | 526 | 1576 | C>T | Breast cancer |
| RC402929 | Q534X | 534 | 1600 | C>T | Breast and/or ovarian cancer |
| RC402930 | Q538X | 538 | 1612 | C>T | Breast cancer |
| RC402931 | Q541X | 541 | 1621 | C>T | Breast cancer |
| RC402932 | Q544P | 544 | 1631 | A>C | Breast and/or ovarian cancer |
| RC402933 | N550H | 550 | 1648 | A>C | Breast cancer |
| RC402934 | G552v | 552 | 1655 | G>T | Breast cancer |
| RC402935 | T557A | 557 | 1669 | A>G | Breast cancer |
| RC402936 | Q563X | 563 | 1687 | C>T | Breast cancer |
| RC402937 | E577X | 577 | 1729 | G>T | Breast and/or ovarian cancer |
| RC402938 | T582A | 582 | 1744 | A>G | Breast cancer |
| RC402939 | K583X | 583 | 1747 | A>T | Ovarian cancer |
| RC402940 | L598X | 598 | 1793 | T>G | Breast and/or ovarian cancer |
| RC402941 | K607X | 607 | 1819 | A>T | Ovarian cancer |
| RC402942 | K614X | 614 | 1840 | A>T | Breast cancer |
| RC402943 | A622v | 622 | 1865 | C>T | Breast cancer |
| RC402944 | L623P | 623 | 1868 | T>C | Breast and/or ovarian Cancer |
| RC402945 | E638X | 638 | 1912 | G>T | Breast and/or ovarian cancer |
| RC402946 | L639X | 639 | 1916 | T>A | Breast cancer |
| RC402947 | C644W | 644 | 1932 | T>G | Ovarian cancer |
| RC402948 | E649X | 649 | 1945 | G>T | Breast and/or ovarian cancer |
| RC402949 | K654E | 654 | 1960 | A>G | Breast cancer |
| RC402950 | K654X | 654 | 1960 | A>T | Breast and/or ovarian cancer |
| RC402951 | N656S | 656 | 1967 | A>G | Breast cancer |
| RC402952 | Q657X | 657 | 1969 | C>T | Breast cancer |
| RC402953 | H662Y | 662 | 1984 | C>T | Breast Cancer |
| RC402954 | K679X | 679 | 2035 | A>T | Breast and/or ovarian cancer |
| RC402955 | P684S | 684 | 2050 | C>T | Breast cancer |
| RC402956 | Q687X | 687 | 2059 | C>T | Breast and/or ovarian cancer |
| RC402957 | D693N | 693 | 2077 | G>A | Breast Cancer |
| RC402958 | D695N | 695 | 2083 | G>A | Breast Cancer |
| RC402959 | S713X | 713 | 2138 | C>G | Breast and/or ovarian cancer |
| RC402960 | K719X | 719 | 2155 | A>T | Ovarian Cancer |
| RC402961 | E720X | 720 | 2158 | G>T | Ovarian cancer |
| RC402962 | N723D | 723 | 2167 | A>G | Prostate cancer |
| RC402963 | E732X | 732 | 2194 | G>T | Breast cancer |
| RC402964 | E755X | 755 | 2263 | G>T | Breast cancer |
| RC402965 | S770X | 770 | 2309 | C>A | Breast cancer |
| RC402966 | v772A | 772 | 2315 | T>C | Breast cancer |
| RC402967 | Q780X | 780 | 2338 | C>T | Breast cancer |
| RC402968 | E797X | 797 | 2389 | G>T | Breast cancer |
| RC402969 | K812X | 812 | 2434 | A>T | Breast and/or ovarian cancer |
| RC402970 | K820E | 820 | 2458 | A>G | Breast Cancer |
| RC402971 | T826K | 826 | 2477 | C>A | Breast cancer |
| RC402972 | E827D | 827 | 2481 | A>C | Breast Cancer |
| RC402973 | R841Q | 841 | 2522 | G>A | Breast and/or ovarian cancer |
| RC402974 | R841W | 841 | 2521 | C>T | Ovarian Cancer |
| RC402975 | I845T | 845 | 2534 | T>C | Breast and/or ovarian Cancer |
| RC402976 | Q855X | 855 | 2563 | C>T | Breast cancer |
| RC402977 | Y856H | 856 | 2566 | T>C | Breast cancer |
| RC402978 | Q858X | 858 | 2572 | C>T | Breast cancer |
| RC402979 | F861C | 861 | 2582 | T>G | Breast and/or ovarian Cancer |
| RC402980 | S864X | 864 | 2591 | C>G | Breast and/or ovarian cancer |
| RC402981 | R866C | 866 | 2596 | C>T | Breast and/or ovarian cancer |
| RC402982 | S868X | 868 | 2603 | C>G | Breast cancer |
| RC402983 | S868X | 868 | 2603 | C>A | Breast cancer |
| RC402984 | E879X | 879 | 2635 | G>T | Breast cancer |
| RC402985 | E881X | 881 | 2641 | G>T | Breast and/or ovarian cancer |
| RC402986 | L892S | 892 | 2675 | T>C | Breast cancer |
| RC402987 | Q895X | 895 | 2683 | C>T | Breast cancer |
| RC402988 | E908X | 908 | 2722 | G>T | Breast cancer |
| RC402989 | N909I | 909 | 2726 | A>T | Breast cancer |
| RC402990 | Q934X | 934 | 2800 | C>T | Ovarian cancer |
| RC402991 | C944X | 944 | 2832 | T>A | Ovarian cancer |
| RC402992 | S955X | 955 | 2864 | C>A | Breast and/or ovarian cancer |
| RC402993 | Q957X | 957 | 2869 | C>T | Ovarian cancer |
| RC402994 | G960D | 960 | 2879 | G>A | Breast cancer |
| RC402995 | G972X | 972 | 2914 | G>T | Breast cancer |
| RC402996 | L974X | 974 | 2921 | T>A | Breast cancer |
| RC402997 | Q975X | 975 | 2923 | C>T | Breast and/or ovarian cancer |
| RC402998 | Y978X | 978 | 2934 | T>G | Breast cancer |
| RC402999 | S988X | 988 | 2963 | C>A | Breast cancer |
| RC403000 | v990I | 990 | 2968 | G>A | Breast Cancer |
| RC403001 | S1007X | 1007 | 3020 | C>G | Breast and/or ovarian cancer |
| RC403002 | M1008I | 1008 | 3024 | G>A | Breast Cancer |
| RC403003 | M1008v | 1008 | 3022 | A>G | Prostate cancer |
| RC403004 | T1025I | 1025 | 3074 | C>T | Breast cancer |
| RC403005 | E1038G | 1038 | 3113 | A>G | Endometriosis, association with ? |
| RC403006 | S1040N | 1040 | 3119 | G>A | Breast Cancer |
| RC403007 | S1041X | 1041 | 3122 | C>G | Breast cancer |
| RC403008 | v1047A | 1047 | 3140 | T>C | Breast cancer |
| RC403009 | T1051S | 1051 | 3152 | C>G | Breast and/or ovarian cancer |
| RC403010 | E1060X | 1060 | 3178 | G>T | Breast and/or ovarian cancer |
| RC403011 | R1076S | 1076 | 3228 | A>T | Breast and/or ovarian cancer |
| RC403012 | L1080X | 1080 | 3239 | T>A | Breast cancer |
| RC403013 | L1086X | 1086 | 3257 | T>G | Breast cancer |
| RC403014 | Q1090X | 1090 | 3268 | C>T | Breast cancer |
| RC403015 | Q1096X | 1096 | 3286 | C>T | Ovarian cancer |
| RC403016 | P1099L | 1099 | 3296 | C>T | Breast Cancer |
| RC403017 | E1107X | 1107 | 3319 | G>T | Breast cancer |
| RC403018 | Y1113X | 1113 | 3339 | T>G | Breast cancer |
| RC403019 | E1114X | 1114 | 3340 | G>T | Breast and/or ovarian cancer |
| RC403020 | v1116L | 1116 | 3346 | G>C | Breast and/or ovarian Cancer |
| RC403021 | S1130X | 1130 | 3389 | C>G | Breast cancer |
| RC403022 | L1133X | 1133 | 3398 | T>G | Breast and/or ovarian cancer |
| RC403023 | E1134X | 1134 | 3400 | G>T | Breast cancer |
| RC403024 | Q1135X | 1135 | 3403 | C>T | Breast cancer |
| RC403025 | Q1144X | 1144 | 3430 | C>T | Breast and/or ovarian cancer |
| RC403026 | P1150S | 1150 | 3448 | C>T | Breast cancer |
| RC403027 | T1163I | 1163 | 3488 | C>T | Breast Cancer |
| RC403028 | S1164I | 1164 | 3491 | G>T | Breast and/or ovarian cancer |
| RC403029 | E1172X | 1172 | 3514 | G>T | Breast and/or ovarian cancer |
| RC403030 | E1185X | 1185 | 3553 | G>T | Breast and/or ovarian cancer |
| RC403031 | L1198X | 1198 | 3593 | T>A | Breast cancer |
| RC403032 | Q1200H | 1200 | 3600 | G>T | Breast Cancer |
| RC403033 | Q1200X | 1200 | 3598 | C>T | Breast cancer |
| RC403034 | G1201S | 1201 | 3601 | G>A | Breast cancer |
| RC403035 | R1203Q | 1203 | 3608 | G>A | Prostate cancer |
| RC403036 | R1203X | 1203 | 3607 | C>T | Breast cancer |
| RC403037 | G1205R | 1205 | 3613 | G>C | Breast cancer |
| RC403038 | E1214X | 1214 | 3640 | G>T | Breast cancer |
| RC403039 | L1216X | 1216 | 3647 | T>G | Ovarian cancer |
| RC403040 | E1219D | 1219 | 3657 | G>C | Breast cancer |
| RC403041 | E1221X | 1221 | 3661 | G>T | Breast cancer |
| RC403042 | N1236K | 1236 | 3708 | T>G | Breast and/or ovarian cancer |
| RC403043 | P1238R | 1238 | 3713 | C>G | Breast and/or ovarian Cancer |
| RC403044 | P1238L | 1238 | 3713 | C>T | Breast and/or ovarian Cancer |
| RC403045 | Q1240X | 1240 | 3718 | C>T | Endometrial cancer |
| RC403046 | S1241C | 1241 | 3722 | C>G | Breast Cancer |
| RC403047 | E1250K | 1250 | 3748 | G>A | Breast Cancer |
| RC403048 | E1250X | 1250 | 3748 | G>T | Breast cancer |
| RC403049 | E1258X | 1258 | 3772 | G>T | Breast and/or ovarian cancer |
| RC403050 | S1262X | 1262 | 3785 | C>A | Breast cancer |
| RC403051 | Q1273X | 1273 | 3817 | C>T | Breast cancer |
| RC403052 | Q1281X | 1281 | 3841 | C>T | Breast cancer |
| RC403053 | H1284R | 1284 | 3851 | A>G | Breast cancer |
| RC403054 | S1298X | 1298 | 3893 | C>A | Breast and/or ovarian cancer |
| RC403055 | Q1299X | 1299 | 3895 | C>T | Breast and/or ovarian cancer |
| RC403056 | E1302X | 1302 | 3904 | G>T | Ovarian cancer |
| RC403057 | Q1313X | 1313 | 3937 | C>T | Breast cancer |
| RC403058 | I1318v | 1318 | 3952 | A>G | Breast cancer |
| RC403059 | Q1323X | 1323 | 3967 | C>T | Breast cancer |
| RC403060 | D1344G | 1344 | 4031 | A>G | Breast and/or ovarian Cancer |
| RC403061 | R1347G | 1347 | 4039 | A>G | Breast Cancer |
| RC403062 | L1351X | 1351 | 4052 | T>A | Breast and/or ovarian cancer |
| RC403063 | E1353X | 1353 | 4057 | G>T | Breast cancer |
| RC403064 | E1358K | 1358 | 4072 | G>A | Breast Cancer |
| RC403065 | Q1359X | 1359 | 4075 | C>T | Breast and/or ovarian cancer |
| RC403066 | C1372X | 1372 | 4116 | T>A | Breast cancer |
| RC403067 | E1373X | 1373 | 4117 | G>T | Ovarian cancer |
| RC403068 | Q1395X | 1395 | 4183 | C>T | Breast cancer |
| RC403069 | Q1396X | 1396 | 4186 | C>T | Breast cancer |
| RC403070 | M1400v | 1400 | 4198 | A>G | Breast and/or ovarian Cancer |
| RC403071 | L1407P | 1407 | 4220 | T>C | Breast and/or ovarian cancer |
| RC403072 | Q1408X | 1408 | 4222 | C>T | Breast and/or ovarian cancer |
| RC403073 | Y1429X | 1429 | 4287 | C>A | Breast cancer |
| RC403074 | R1443G | 1443 | 4327 | C>G | Breast Cancer |
| RC403075 | R1443X | 1443 | 4327 | C>T | Breast cancer |
| RC403076 | Q1447X | 1447 | 4339 | C>T | Breast and/or ovarian cancer |
| RC403077 | Q1458X | 1458 | 4372 | C>T | Breast cancer |
| RC403078 | P1491A | 1491 | 4471 | C>G | Breast Cancer |
| RC403079 | E1494X | 1494 | 4480 | G>T | Breast cancer |
| RC403080 | R1495M | 1495 | 4484 | G>T | Ovarian cancer |
| RC403081 | S1496X | 1496 | 4487 | C>G | Breast cancer |
| RC403082 | S1503X | 1503 | 4508 | C>A | Breast and/or ovarian cancer |
| RC403083 | S1512I | 1512 | 4535 | G>T | Breast Cancer |
| RC403084 | v1534M | 1534 | 4600 | G>A | Breast and/or ovarian Cancer |
| RC403085 | E1535X | 1535 | 4603 | G>T | Breast and/or ovarian cancer |
| RC403086 | Q1537X | 1537 | 4609 | C>T | Breast cancer |
| RC403087 | Q1538X | 1538 | 4612 | C>T | Breast cancer |
| RC403088 | E1541X | 1541 | 4621 | G>T | Breast cancer |
| RC403089 | T1561I | 1561 | 4682 | C>T | Breast cancer |
| RC403090 | Y1563X | 1563 | 4689 | C>G | Breast cancer |
| RC403091 | L1564P | 1564 | 4691 | T>C | Breast cancer |
| RC403092 | S1577P | 1577 | 4729 | T>C | Breast Cancer |
| RC403093 | E1581D | 1581 | 4743 | A>C | Breast Cancer |
| RC403094 | E1581X | 1581 | 4741 | G>T | Breast and/or ovarian cancer |
| RC403095 | I1593L | 1593 | 4777 | A>T | Breast and/or ovarian cancer |
| RC403096 | K1601X | 1601 | 4801 | A>T | Breast and/or ovarian cancer |
| RC403097 | Q1604X | 1604 | 4810 | C>T | Breast cancer |
| RC403098 | K1606E | 1606 | 4816 | A>G | Breast cancer |
| RC403099 | S1613C | 1613 | 4837 | A>T | Ovarian Cancer |
| RC403100 | M1628T | 1628 | 4883 | T>C | Breast cancer |
| RC403101 | M1628v | 1628 | 4882 | A>G | Breast cancer |
| RC403102 | P1637L | 1637 | 4910 | C>T | Ovarian cancer |
| RC403103 | E1644X | 1644 | 4930 | G>T | Breast cancer, early-onset |
| RC403104 | M1652I | 1652 | 4956 | G>A | Breast and/or ovarian Cancer |
| RC403105 | M1652T | 1652 | 4955 | T>C | Breast and/or ovarian cancer |
| RC403106 | S1655F | 1655 | 4964 | C>T | Breast and/or ovarian Cancer |
| RC403107 | E1661X | 1661 | 4981 | G>T | Breast cancer |
| RC403108 | A1669S | 1669 | 5005 | G>T | Breast and/or ovarian cancer |
| RC403109 | E1683X | 1683 | 5047 | G>T | Ovarian cancer |
| RC403110 | T1685A | 1685 | 5053 | A>G | Breast and/or ovarian Cancer |
| RC403111 | H1686Q | 1686 | 5058 | T>A | Breast and/or ovarian cancer |
| RC403112 | M1689R | 1689 | 5066 | T>G | Breast and/or ovarian Cancer |
| RC403113 | K1690Q | 1690 | 5068 | A>C | Breast Cancer |
| RC403114 | E1694X | 1694 | 5080 | G>T | Breast and/or ovarian cancer |
| RC403115 | F1695L | 1695 | 5085 | T>A | Breast Cancer |
| RC403116 | v1696L | 1696 | 5086 | G>C | Breast and/or ovarian Cancer |
| RC403117 | C1697R | 1697 | 5089 | T>C | Breast cancer |
| RC403118 | R1699Q | 1699 | 5096 | G>A | Breast and/or ovarian cancer |
| RC403119 | R1699L | 1699 | 5096 | G>T | Breast and/or ovarian Cancer |
| RC403120 | R1699W | 1699 | 5095 | C>T | Breast and colorectal cancer |
| RC403121 | T1700A | 1700 | 5098 | A>G | Breast and/or ovarian Cancer |
| RC403122 | G1706E | 1706 | 5117 | G>A | Breast cancer |
| RC403123 | G1706A | 1706 | 5117 | G>C | Breast cancer |
| RC403124 | A1708v | 1708 | 5123 | C>T | Breast and/or ovarian cancer |
| RC403125 | A1708E | 1708 | 5123 | C>A | Breast Cancer |
| RC403126 | G1710X | 1710 | 5128 | G>T | Breast and/or ovarian cancer |
| RC403127 | W1712X | 1712 | 5136 | G>A | Breast cancer |
| RC403128 | v1713A | 1713 | 5138 | T>C | Breast cancer |
| RC403129 | S1715R | 1715 | 5145 | C>A | Breast and/or ovarian Cancer |
| RC403130 | S1715N | 1715 | 5144 | G>A | Breast and/or ovarian cancer |
| RC403131 | S1715R | 1715 | 5143 | A>C | Breast and/or ovarian Cancer |
| RC403132 | S1715C | 1715 | 5143 | A>T | Breast and/or ovarian Cancer |
| RC403133 | W1718X | 1718 | 5154 | G>A | Breast and/or ovarian cancer |
| RC403134 | W1718S | 1718 | 5153 | G>C | Breast and/or ovarian Cancer |
| RC403135 | W1718X | 1718 | 5153 | G>A | Breast cancer |
| RC403136 | E1725X | 1725 | 5173 | G>T | Breast cancer |
| RC403137 | K1727X | 1727 | 5179 | A>T | Breast cancer |
| RC403138 | F1734S | 1734 | 5201 | T>C | Breast cancer |
| RC403139 | E1735K | 1735 | 5203 | G>A | Breast Cancer |
| RC403140 | v1736A | 1736 | 5207 | T>C | Breast and/or ovarian Cancer |
| RC403141 | G1738E | 1738 | 5213 | G>A | Breast and/or ovarian Cancer |
| RC403142 | G1738R | 1738 | 5212 | G>A | Breast and/or ovarian cancer |
| RC403143 | D1739E | 1739 | 5217 | T>G | Breast and/or ovarian Cancer |
| RC403144 | D1739G | 1739 | 5216 | A>G | Breast and/or ovarian Cancer |
| RC403145 | D1739v | 1739 | 5216 | A>T | Ovarian Cancer |
| RC403146 | D1739Y | 1739 | 5215 | G>T | Breast cancer |
| RC403147 | v1741G | 1741 | 5222 | T>G | Breast cancer |
| RC403148 | H1746N | 1746 | 5236 | C>A | Breast and/or ovarian Cancer |
| RC403149 | Q1747H | 1747 | 5241 | A>C | Breast cancer |
| RC403150 | G1748D | 1748 | 5243 | G>A | Breast cancer |
| RC403151 | P1749R | 1749 | 5246 | C>G | Breast cancer |
| RC403152 | P1749A | 1749 | 5245 | C>G | Breast cancer |
| RC403153 | R1751Q | 1751 | 5252 | G>A | Breast and/or ovarian cancer |
| RC403154 | R1751P | 1751 | 5252 | G>C | Breast and/or ovarian Cancer |
| RC403155 | R1751X | 1751 | 5251 | C>T | Breast cancer |
| RC403156 | A1752P | 1752 | 5254 | G>C | Breast cancer |
| RC403157 | R1753K | 1753 | 5258 | G>A | Breast cancer |
| RC403158 | E1754X | 1754 | 5260 | G>T | Breast cancer |
| RC403159 | Q1756X | 1756 | 5266 | C>T | Breast cancer |
| RC403160 | L1764P | 1764 | 5291 | T>C | Breast and/or ovarian cancer |
| RC403161 | E1765X | 1765 | 5293 | G>T | Breast and/or ovarian cancer |
| RC403162 | I1766S | 1766 | 5297 | T>G | Breast and/or ovarian Cancer |
| RC403163 | T1773S | 1773 | 5317 | A>T | Breast and/or ovarian Cancer |
| RC403164 | M1775K | 1775 | 5324 | T>A | Breast cancer |
| RC403165 | M1775R | 1775 | 5324 | T>G | Breast cancer |
| RC403166 | D1778H | 1778 | 5332 | G>C | Breast Cancer |
| RC403167 | L1780P | 1780 | 5339 | T>C | Breast and/or ovarian Cancer |
| RC403168 | W1782X | 1782 | 5346 | G>A | Breast cancer |
| RC403169 | W1782X | 1782 | 5345 | G>A | Breast and/or ovarian cancer |
| RC403170 | M1783T | 1783 | 5348 | T>C | Breast and/or ovarian Cancer |
| RC403171 | Q1785H | 1785 | 5355 | G>T | Breast cancer |
| RC403172 | Q1785X | 1785 | 5353 | C>T | Breast cancer |
| RC403173 | C1787S | 1787 | 5359 | T>A | Breast and/or ovarian cancer |
| RC403174 | G1788D | 1788 | 5363 | G>A | Breast and/or ovarian Cancer |
| RC403175 | G1788v | 1788 | 5363 | G>T | Ovarian cancer |
| RC403176 | A1789S | 1789 | 5365 | G>T | Breast cancer |
| RC403177 | A1789T | 1789 | 5365 | G>A | Breast and/or ovarian cancer |
| RC403178 | E1794D | 1794 | 5382 | G>T | Breast cancer |
| RC403179 | v1804D | 1804 | 5411 | T>A | Ovarian cancer |
| RC403180 | H1805P | 1805 | 5414 | A>C | Breast and/or ovarian Cancer |
| RC403181 | v1809A | 1809 | 5426 | T>C | Breast cancer |
| RC403182 | v1810G | 1810 | 5429 | T>G | Breast and/or ovarian cancer |
| RC403183 | Q1811R | 1811 | 5432 | A>G | Breast and/or ovarian Cancer |
| RC403184 | Q1811X | 1811 | 5431 | C>T | Breast cancer |
| RC403185 | P1812A | 1812 | 5434 | C>G | Breast and/or ovarian Cancer |
| RC403186 | W1815X | 1815 | 5445 | G>A | Breast cancer |
| RC403187 | W1815X | 1815 | 5444 | G>A | Breast and/or ovarian cancer |
| RC403188 | E1817X | 1817 | 5449 | G>T | Breast cancer |
| RC403189 | R1835X | 1835 | 5503 | C>T | Breast cancer |
| RC403190 | E1836X | 1836 | 5506 | G>T | Breast cancer |
| RC403191 | W1837X | 1837 | 5511 | G>A | Breast cancer |
| RC403192 | W1837X | 1837 | 5510 | G>A | Breast cancer |
| RC403193 | W1837G | 1837 | 5509 | T>G | Breast and/or ovarian Cancer |
| RC403194 | W1837R | 1837 | 5509 | T>C | Breast cancer |
| RC403195 | v1838E | 1838 | 5513 | T>A | Breast cancer |
| RC403196 | S1841N | 1841 | 5522 | G>A | Breast and/or ovarian Cancer |
| RC403197 | Q1846X | 1846 | 5536 | C>T | Breast and/or ovarian cancer |
| RC403198 | Y1853X | 1853 | 5559 | C>G | Breast and/or ovarian cancer |
| RC403199 | Y1853C | 1853 | 5558 | A>G | Breast and/or ovarian Cancer |
| RC403200 | I1858T | 1858 | 5573 | T>C | Prostate cancer |
