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HomeAll Cancer Mutant ClonesBRCA1 Mutants

Description of the mutations of BRCA1 (NM_007294) Mutants

Keys for Mutation Description

A.A. substitution
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

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC402813 v11A1132T>CBreast cancer
RC402814 Q12X1234C>TBreast cancer
RC402815 I15T1544T>CBreast and/or ovarian Cancer
RC402816 M18T1853T>CBreast cancer
RC402817 M18K1853T>AOvarian cancer
RC402818 Q19X1955C>TBreast and/or ovarian cancer
RC402819 I21v2161A>GBreast cancer
RC402820 L22S2265T>CBreast cancer
RC402821 C24Y2471G>ABreast and/or ovarian cancer
RC402822 P25T2573C>ABreast and/or ovarian cancer
RC402823 L28P2883T>CBreast and/or ovarian Cancer
RC402824 L30X3089T>ABreast cancer
RC402825 T37R37110C>GBreast and/or ovarian Cancer
RC402826 K38N38114G>TBreast and/or ovarian Cancer
RC402827 C39Y39116G>ABreast cancer
RC402828 C39R39115T>CBreast and/or ovarian cancer
RC402829 C39S39115T>ABreast and colorectal cancer
RC402830 C39G39115T>GBreast and/or ovarian cancer
RC402831 H41R41122A>GBreast and/or ovarian Cancer
RC402832 C44F44131G>TBreast and/or ovarian Cancer
RC402833 C44G44130T>GBreast and/or ovarian Cancer
RC402834 K45N45135A>TBreast and/or ovarian Cancer
RC402835 K45T45134A>CBreast and/or ovarian Cancer
RC402836 C47Y47140G>ABreast and/or ovarian cancer
RC402837 C47F47140G>TBreast and/or ovarian cancer
RC402838 L52F52154C>TBreast Cancer
RC402839 K56R56167A>GBreast and/or ovarian cancer
RC402840 P58A58172C>GBreast and/or ovarian cancer
RC402841 Q60X60178C>TBreast and/or ovarian cancer
RC402842 C61Y61182G>ABreast and/or ovarian Cancer
RC402843 C61G61181T>GBreast cancer
RC402844 L63X63188T>ABreast cancer
RC402845 L63S63188T>CBreast Cancer
RC402846 C64Y64191G>ABreast cancer
RC402847 C64G64190T>GBreast cancer
RC402848 C64R64190T>CBreast cancer
RC402849 D67E67201T>GBreast and/or ovarian cancer
RC402850 I68K68203T>ABreast and/or ovarian Cancer
RC402851 R71K71212G>ABreast and/or ovarian cancer
RC402852 R71G71211A>GBreast and/or ovarian cancer
RC402853 S72R72216C>ABreast and/or ovarian Cancer
RC402854 Q74X74220C>TBreast cancer
RC402855 Q81X81241C>TBreast and/or ovarian cancer
RC402856 D96N96286G>ABreast and/or ovarian Cancer
RC402857 G98R98292G>CBreast cancer
RC402858 Y101X101303T>GBreast and/or ovarian cancer
RC402859 Y105C105314A>GBreast cancer
RC402860 K110T110329A>CBreast cancer
RC402861 S114P114340T>CBreast cancer
RC402862 E116K116346G>ABreast and/or ovarian cancer
RC402863 Y130X130390C>ABreast and/or ovarian cancer
RC402864 N132K132396C>ABreast and/or ovarian cancer
RC402865 P142H142425C>ABreast Cancer
RC402866 E143X143427G>TBreast and/or ovarian cancer
RC402867 Q155X155463C>TBreast cancer
RC402868 N158Y158472A>TBreast cancer
RC402869 Q169X169505C>TBreast cancer
RC402870 Q172X172514C>TOvarian cancer
RC402871 Y179C179536A>GBreast Cancer
RC402872 S186F186557C>TBreast and/or ovarian cancer
RC402873 S186A186556T>GBreast cancer
RC402874 v191I191571G>ABreast and/or ovarian Cancer
RC402875 Q206X206616C>TBreast cancer
RC402876 C226X226678T>ABreast and/or ovarian cancer
RC402877 L246v246736T>GBreast and/or ovarian cancer
RC402878 E255X255763G>TBreast and/or ovarian cancer
RC402879 Y261X261783T>GBreast cancer
RC402880 G263A263788G>CBreast Cancer
RC402881 G263v263788G>TBreast Cancer
RC402882 G263C263787G>TBreast Cancer
RC402883 S264R264792T>GBreast Cancer
RC402884 S264N264791G>ABreast Cancer
RC402885 S264C264790A>TBreast Cancer
RC402886 v271M271811G>ABreast cancer
RC402887 G275D275824G>ABreast cancer
RC402888 G275S275823G>ABreast and/or ovarian cancer
RC402889 Q284X284850C>TBreast cancer
RC402890 Q310X310928C>TOvarian cancer
RC402891 W321X321962G>ABreast and/or ovarian cancer
RC402892 K338X3381012A>TBreast cancer
RC402893 E352X3521054G>TOvarian cancer
RC402894 W353X3531058G>ABreast cancer
RC402895 K355X3551063A>TBreast cancer
RC402896 Q356R3561067A>GBreast and/or ovarian Cancer
RC402897 Q356X3561066C>TBreast cancer
RC402898 P359L3591076C>TBreast cancer
RC402899 W372X3721116G>ABreast and/or ovarian cancer
RC402900 W372X3721115G>ABreast cancer
RC402901 T374I3741121C>TBreast and/or ovarian cancer
RC402902 I379M3791137T>GBreast cancer
RC402903 Q380X3801138C>TBreast cancer
RC402904 K381X3811141A>TBreast cancer
RC402905 E421G4211262A>GBreast cancer
RC402906 E427X4271279G>TBreast cancer
RC402907 L431X4311292T>GBreast and/or ovarian cancer
RC402908 C442X4421326T>ABreast cancer
RC402909 E445X4451333G>TBreast cancer
RC402910 H448Y4481342C>TProstate cancer
RC402911 S451X4511352C>ABreast and/or ovarian cancer
RC402912 F461L4611381T>CBreast cancer
RC402913 Y465D4651393T>GBreast cancer
RC402914 K467X4671399A>TBreast and/or ovarian cancer
RC402915 L474X4741421T>GBreast and/or ovarian cancer
RC402916 G484X4841450G>TBreast cancer
RC402917 F486L4861458T>ABreast cancer
RC402918 E489X4891465G>TBreast cancer
RC402919 Q491X4911471C>TBreast and/or ovarian cancer
RC402920 Q494X4941480C>TBreast and/or ovarian cancer
RC402921 R496H4961487G>ABreast and/or ovarian cancer
RC402922 R496C4961486C>TBreast and/or ovarian cancer
RC402923 K505X5051513A>TBreast cancer
RC402924 R507I5071520G>TBreast cancer
RC402925 S510X5101529C>GBreast cancer
RC402926 E515G5151544A>GBreast Cancer
RC402927 L523W5231568T>GBreast cancer
RC402928 Q526X5261576C>TBreast cancer
RC402929 Q534X5341600C>TBreast and/or ovarian cancer
RC402930 Q538X5381612C>TBreast cancer
RC402931 Q541X5411621C>TBreast cancer
RC402932 Q544P5441631A>CBreast and/or ovarian cancer
RC402933 N550H5501648A>CBreast cancer
RC402934 G552v5521655G>TBreast cancer
RC402935 T557A5571669A>GBreast cancer
RC402936 Q563X5631687C>TBreast cancer
RC402937 E577X5771729G>TBreast and/or ovarian cancer
RC402938 T582A5821744A>GBreast cancer
RC402939 K583X5831747A>TOvarian cancer
RC402940 L598X5981793T>GBreast and/or ovarian cancer
RC402941 K607X6071819A>TOvarian cancer
RC402942 K614X6141840A>TBreast cancer
RC402943 A622v6221865C>TBreast cancer
RC402944 L623P6231868T>CBreast and/or ovarian Cancer
RC402945 E638X6381912G>TBreast and/or ovarian cancer
RC402946 L639X6391916T>ABreast cancer
RC402947 C644W6441932T>GOvarian cancer
RC402948 E649X6491945G>TBreast and/or ovarian cancer
RC402949 K654E6541960A>GBreast cancer
RC402950 K654X6541960A>TBreast and/or ovarian cancer
RC402951 N656S6561967A>GBreast cancer
RC402952 Q657X6571969C>TBreast cancer
RC402953 H662Y6621984C>TBreast Cancer
RC402954 K679X6792035A>TBreast and/or ovarian cancer
RC402955 P684S6842050C>TBreast cancer
RC402956 Q687X6872059C>TBreast and/or ovarian cancer
RC402957 D693N6932077G>ABreast Cancer
RC402958 D695N6952083G>ABreast Cancer
RC402959 S713X7132138C>GBreast and/or ovarian cancer
RC402960 K719X7192155A>TOvarian Cancer
RC402961 E720X7202158G>TOvarian cancer
RC402962 N723D7232167A>GProstate cancer
RC402963 E732X7322194G>TBreast cancer
RC402964 E755X7552263G>TBreast cancer
RC402965 S770X7702309C>ABreast cancer
RC402966 v772A7722315T>CBreast cancer
RC402967 Q780X7802338C>TBreast cancer
RC402968 E797X7972389G>TBreast cancer
RC402969 K812X8122434A>TBreast and/or ovarian cancer
RC402970 K820E8202458A>GBreast Cancer
RC402971 T826K8262477C>ABreast cancer
RC402972 E827D8272481A>CBreast Cancer
RC402973 R841Q8412522G>ABreast and/or ovarian cancer
RC402974 R841W8412521C>TOvarian Cancer
RC402975 I845T8452534T>CBreast and/or ovarian Cancer
RC402976 Q855X8552563C>TBreast cancer
RC402977 Y856H8562566T>CBreast cancer
RC402978 Q858X8582572C>TBreast cancer
RC402979 F861C8612582T>GBreast and/or ovarian Cancer
RC402980 S864X8642591C>GBreast and/or ovarian cancer
RC402981 R866C8662596C>TBreast and/or ovarian cancer
RC402982 S868X8682603C>GBreast cancer
RC402983 S868X8682603C>ABreast cancer
RC402984 E879X8792635G>TBreast cancer
RC402985 E881X8812641G>TBreast and/or ovarian cancer
RC402986 L892S8922675T>CBreast cancer
RC402987 Q895X8952683C>TBreast cancer
RC402988 E908X9082722G>TBreast cancer
RC402989 N909I9092726A>TBreast cancer
RC402990 Q934X9342800C>TOvarian cancer
RC402991 C944X9442832T>AOvarian cancer
RC402992 S955X9552864C>ABreast and/or ovarian cancer
RC402993 Q957X9572869C>TOvarian cancer
RC402994 G960D9602879G>ABreast cancer
RC402995 G972X9722914G>TBreast cancer
RC402996 L974X9742921T>ABreast cancer
RC402997 Q975X9752923C>TBreast and/or ovarian cancer
RC402998 Y978X9782934T>GBreast cancer
RC402999 S988X9882963C>ABreast cancer
RC403000 v990I9902968G>ABreast Cancer
RC403001 S1007X10073020C>GBreast and/or ovarian cancer
RC403002 M1008I10083024G>ABreast Cancer
RC403003 M1008v10083022A>GProstate cancer
RC403004 T1025I10253074C>TBreast cancer
RC403005 E1038G10383113A>GEndometriosis, association with ?
RC403006 S1040N10403119G>ABreast Cancer
RC403007 S1041X10413122C>GBreast cancer
RC403008 v1047A10473140T>CBreast cancer
RC403009 T1051S10513152C>GBreast and/or ovarian cancer
RC403010 E1060X10603178G>TBreast and/or ovarian cancer
RC403011 R1076S10763228A>TBreast and/or ovarian cancer
RC403012 L1080X10803239T>ABreast cancer
RC403013 L1086X10863257T>GBreast cancer
RC403014 Q1090X10903268C>TBreast cancer
RC403015 Q1096X10963286C>TOvarian cancer
RC403016 P1099L10993296C>TBreast Cancer
RC403017 E1107X11073319G>TBreast cancer
RC403018 Y1113X11133339T>GBreast cancer
RC403019 E1114X11143340G>TBreast and/or ovarian cancer
RC403020 v1116L11163346G>CBreast and/or ovarian Cancer
RC403021 S1130X11303389C>GBreast cancer
RC403022 L1133X11333398T>GBreast and/or ovarian cancer
RC403023 E1134X11343400G>TBreast cancer
RC403024 Q1135X11353403C>TBreast cancer
RC403025 Q1144X11443430C>TBreast and/or ovarian cancer
RC403026 P1150S11503448C>TBreast cancer
RC403027 T1163I11633488C>TBreast Cancer
RC403028 S1164I11643491G>TBreast and/or ovarian cancer
RC403029 E1172X11723514G>TBreast and/or ovarian cancer
RC403030 E1185X11853553G>TBreast and/or ovarian cancer
RC403031 L1198X11983593T>ABreast cancer
RC403032 Q1200H12003600G>TBreast Cancer
RC403033 Q1200X12003598C>TBreast cancer
RC403034 G1201S12013601G>ABreast cancer
RC403035 R1203Q12033608G>AProstate cancer
RC403036 R1203X12033607C>TBreast cancer
RC403037 G1205R12053613G>CBreast cancer
RC403038 E1214X12143640G>TBreast cancer
RC403039 L1216X12163647T>GOvarian cancer
RC403040 E1219D12193657G>CBreast cancer
RC403041 E1221X12213661G>TBreast cancer
RC403042 N1236K12363708T>GBreast and/or ovarian cancer
RC403043 P1238R12383713C>GBreast and/or ovarian Cancer
RC403044 P1238L12383713C>TBreast and/or ovarian Cancer
RC403045 Q1240X12403718C>TEndometrial cancer
RC403046 S1241C12413722C>GBreast Cancer
RC403047 E1250K12503748G>ABreast Cancer
RC403048 E1250X12503748G>TBreast cancer
RC403049 E1258X12583772G>TBreast and/or ovarian cancer
RC403050 S1262X12623785C>ABreast cancer
RC403051 Q1273X12733817C>TBreast cancer
RC403052 Q1281X12813841C>TBreast cancer
RC403053 H1284R12843851A>GBreast cancer
RC403054 S1298X12983893C>ABreast and/or ovarian cancer
RC403055 Q1299X12993895C>TBreast and/or ovarian cancer
RC403056 E1302X13023904G>TOvarian cancer
RC403057 Q1313X13133937C>TBreast cancer
RC403058 I1318v13183952A>GBreast cancer
RC403059 Q1323X13233967C>TBreast cancer
RC403060 D1344G13444031A>GBreast and/or ovarian Cancer
RC403061 R1347G13474039A>GBreast Cancer
RC403062 L1351X13514052T>ABreast and/or ovarian cancer
RC403063 E1353X13534057G>TBreast cancer
RC403064 E1358K13584072G>ABreast Cancer
RC403065 Q1359X13594075C>TBreast and/or ovarian cancer
RC403066 C1372X13724116T>ABreast cancer
RC403067 E1373X13734117G>TOvarian cancer
RC403068 Q1395X13954183C>TBreast cancer
RC403069 Q1396X13964186C>TBreast cancer
RC403070 M1400v14004198A>GBreast and/or ovarian Cancer
RC403071 L1407P14074220T>CBreast and/or ovarian cancer
RC403072 Q1408X14084222C>TBreast and/or ovarian cancer
RC403073 Y1429X14294287C>ABreast cancer
RC403074 R1443G14434327C>GBreast Cancer
RC403075 R1443X14434327C>TBreast cancer
RC403076 Q1447X14474339C>TBreast and/or ovarian cancer
RC403077 Q1458X14584372C>TBreast cancer
RC403078 P1491A14914471C>GBreast Cancer
RC403079 E1494X14944480G>TBreast cancer
RC403080 R1495M14954484G>TOvarian cancer
RC403081 S1496X14964487C>GBreast cancer
RC403082 S1503X15034508C>ABreast and/or ovarian cancer
RC403083 S1512I15124535G>TBreast Cancer
RC403084 v1534M15344600G>ABreast and/or ovarian Cancer
RC403085 E1535X15354603G>TBreast and/or ovarian cancer
RC403086 Q1537X15374609C>TBreast cancer
RC403087 Q1538X15384612C>TBreast cancer
RC403088 E1541X15414621G>TBreast cancer
RC403089 T1561I15614682C>TBreast cancer
RC403090 Y1563X15634689C>GBreast cancer
RC403091 L1564P15644691T>CBreast cancer
RC403092 S1577P15774729T>CBreast Cancer
RC403093 E1581D15814743A>CBreast Cancer
RC403094 E1581X15814741G>TBreast and/or ovarian cancer
RC403095 I1593L15934777A>TBreast and/or ovarian cancer
RC403096 K1601X16014801A>TBreast and/or ovarian cancer
RC403097 Q1604X16044810C>TBreast cancer
RC403098 K1606E16064816A>GBreast cancer
RC403099 S1613C16134837A>TOvarian Cancer
RC403100 M1628T16284883T>CBreast cancer
RC403101 M1628v16284882A>GBreast cancer
RC403102 P1637L16374910C>TOvarian cancer
RC403103 E1644X16444930G>TBreast cancer, early-onset
RC403104 M1652I16524956G>ABreast and/or ovarian Cancer
RC403105 M1652T16524955T>CBreast and/or ovarian cancer
RC403106 S1655F16554964C>TBreast and/or ovarian Cancer
RC403107 E1661X16614981G>TBreast cancer
RC403108 A1669S16695005G>TBreast and/or ovarian cancer
RC403109 E1683X16835047G>TOvarian cancer
RC403110 T1685A16855053A>GBreast and/or ovarian Cancer
RC403111 H1686Q16865058T>ABreast and/or ovarian cancer
RC403112 M1689R16895066T>GBreast and/or ovarian Cancer
RC403113 K1690Q16905068A>CBreast Cancer
RC403114 E1694X16945080G>TBreast and/or ovarian cancer
RC403115 F1695L16955085T>ABreast Cancer
RC403116 v1696L16965086G>CBreast and/or ovarian Cancer
RC403117 C1697R16975089T>CBreast cancer
RC403118 R1699Q16995096G>ABreast and/or ovarian cancer
RC403119 R1699L16995096G>TBreast and/or ovarian Cancer
RC403120 R1699W16995095C>TBreast and colorectal cancer
RC403121 T1700A17005098A>GBreast and/or ovarian Cancer
RC403122 G1706E17065117G>ABreast cancer
RC403123 G1706A17065117G>CBreast cancer
RC403124 A1708v17085123C>TBreast and/or ovarian cancer
RC403125 A1708E17085123C>ABreast Cancer
RC403126 G1710X17105128G>TBreast and/or ovarian cancer
RC403127 W1712X17125136G>ABreast cancer
RC403128 v1713A17135138T>CBreast cancer
RC403129 S1715R17155145C>ABreast and/or ovarian Cancer
RC403130 S1715N17155144G>ABreast and/or ovarian cancer
RC403131 S1715R17155143A>CBreast and/or ovarian Cancer
RC403132 S1715C17155143A>TBreast and/or ovarian Cancer
RC403133 W1718X17185154G>ABreast and/or ovarian cancer
RC403134 W1718S17185153G>CBreast and/or ovarian Cancer
RC403135 W1718X17185153G>ABreast cancer
RC403136 E1725X17255173G>TBreast cancer
RC403137 K1727X17275179A>TBreast cancer
RC403138 F1734S17345201T>CBreast cancer
RC403139 E1735K17355203G>ABreast Cancer
RC403140 v1736A17365207T>CBreast and/or ovarian Cancer
RC403141 G1738E17385213G>ABreast and/or ovarian Cancer
RC403142 G1738R17385212G>ABreast and/or ovarian cancer
RC403143 D1739E17395217T>GBreast and/or ovarian Cancer
RC403144 D1739G17395216A>GBreast and/or ovarian Cancer
RC403145 D1739v17395216A>TOvarian Cancer
RC403146 D1739Y17395215G>TBreast cancer
RC403147 v1741G17415222T>GBreast cancer
RC403148 H1746N17465236C>ABreast and/or ovarian Cancer
RC403149 Q1747H17475241A>CBreast cancer
RC403150 G1748D17485243G>ABreast cancer
RC403151 P1749R17495246C>GBreast cancer
RC403152 P1749A17495245C>GBreast cancer
RC403153 R1751Q17515252G>ABreast and/or ovarian cancer
RC403154 R1751P17515252G>CBreast and/or ovarian Cancer
RC403155 R1751X17515251C>TBreast cancer
RC403156 A1752P17525254G>CBreast cancer
RC403157 R1753K17535258G>ABreast cancer
RC403158 E1754X17545260G>TBreast cancer
RC403159 Q1756X17565266C>TBreast cancer
RC403160 L1764P17645291T>CBreast and/or ovarian cancer
RC403161 E1765X17655293G>TBreast and/or ovarian cancer
RC403162 I1766S17665297T>GBreast and/or ovarian Cancer
RC403163 T1773S17735317A>TBreast and/or ovarian Cancer
RC403164 M1775K17755324T>ABreast cancer
RC403165 M1775R17755324T>GBreast cancer
RC403166 D1778H17785332G>CBreast Cancer
RC403167 L1780P17805339T>CBreast and/or ovarian Cancer
RC403168 W1782X17825346G>ABreast cancer
RC403169 W1782X17825345G>ABreast and/or ovarian cancer
RC403170 M1783T17835348T>CBreast and/or ovarian Cancer
RC403171 Q1785H17855355G>TBreast cancer
RC403172 Q1785X17855353C>TBreast cancer
RC403173 C1787S17875359T>ABreast and/or ovarian cancer
RC403174 G1788D17885363G>ABreast and/or ovarian Cancer
RC403175 G1788v17885363G>TOvarian cancer
RC403176 A1789S17895365G>TBreast cancer
RC403177 A1789T17895365G>ABreast and/or ovarian cancer
RC403178 E1794D17945382G>TBreast cancer
RC403179 v1804D18045411T>AOvarian cancer
RC403180 H1805P18055414A>CBreast and/or ovarian Cancer
RC403181 v1809A18095426T>CBreast cancer
RC403182 v1810G18105429T>GBreast and/or ovarian cancer
RC403183 Q1811R18115432A>GBreast and/or ovarian Cancer
RC403184 Q1811X18115431C>TBreast cancer
RC403185 P1812A18125434C>GBreast and/or ovarian Cancer
RC403186 W1815X18155445G>ABreast cancer
RC403187 W1815X18155444G>ABreast and/or ovarian cancer
RC403188 E1817X18175449G>TBreast cancer
RC403189 R1835X18355503C>TBreast cancer
RC403190 E1836X18365506G>TBreast cancer
RC403191 W1837X18375511G>ABreast cancer
RC403192 W1837X18375510G>ABreast cancer
RC403193 W1837G18375509T>GBreast and/or ovarian Cancer
RC403194 W1837R18375509T>CBreast cancer
RC403195 v1838E18385513T>ABreast cancer
RC403196 S1841N18415522G>ABreast and/or ovarian Cancer
RC403197 Q1846X18465536C>TBreast and/or ovarian cancer
RC403198 Y1853X18535559C>GBreast and/or ovarian cancer
RC403199 Y1853C18535558A>GBreast and/or ovarian Cancer
RC403200 I1858T18585573T>CProstate cancer

 

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