Full data view for gene BRCA1

Information The variants shown are described using the NM_007294.3 transcript reference sequence.

254 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-19-24A>G r.(=) p.(=) g.41276156T>C Copied from the Exome Variant Server BRCA1_000254 2/12988 0/8590 2/4398 - - - - - - -
?/? c.19C>T r.(?) p.(Arg7Cys) g.41276095G>A Copied from the Exome Variant Server BRCA1_000253 1/13002 1/8598 0/4404 - - - - - - -
?/? c.20G>A r.(?) p.(Arg7His) g.41276094C>T Copied from the Exome Variant Server BRCA1_000252 1/13004 0/8600 1/4404 - - - - - - -
?/? c.21C>T r.(=) p.(=) g.41276093G>A Copied from the Exome Variant Server BRCA1_000251 22/13004 0/8600 22/4404 - - - - - - -
?/? c.67G>C r.(?) p.(Glu23Gln) g.41276047C>G Copied from the Exome Variant Server BRCA1_000250 1/13004 1/8600 0/4404 - - - - - - -
?/? c.80+51A>G r.(=) p.(=) g.41275983T>C Copied from the Exome Variant Server BRCA1_000249 5/12998 0/8596 5/4402 - - - - - - -
?/? c.81-14C>T r.(=) p.(=) g.41267810G>A Copied from the Exome Variant Server BRCA1_000248 9/13006 8/8600 1/4406 - - - - - - -
?/? c.81-13C>G r.(=) p.(=) g.41267809G>C Copied from the Exome Variant Server BRCA1_000247 8/13006 0/8600 8/4406 - - - - - - -
?/? c.81-12C>G r.(=) p.(=) g.41267808G>C Copied from the Exome Variant Server BRCA1_000246 9/13006 0/8600 9/4406 - - - - - - -
?/? c.81-6T>C r.(=) p.(=) g.41267802A>G Copied from the Exome Variant Server BRCA1_000245 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135-42G>C r.(=) p.(=) g.41258592C>G Copied from the Exome Variant Server BRCA1_000244 1/12896 0/8544 1/4352 - - - - - - -
?/? c.135-27T>A r.(=) p.(=) g.41258577A>T Copied from the Exome Variant Server BRCA1_000243 1/12930 1/8550 0/4380 - - - - - - -
?/? c.179A>G r.(?) p.(Gln60Arg) g.41258506T>C Copied from the Exome Variant Server BRCA1_000242 1/12996 0/8592 1/4404 - - - - - - -
?/? c.199G>T r.(?) p.(Asp67Tyr) g.41258486C>A Copied from the Exome Variant Server BRCA1_000241 2/12986 2/8582 0/4404 - - - - - - -
?/? c.212+17T>C r.(=) p.(=) g.41258456A>G Copied from the Exome Variant Server BRCA1_000240 1/12990 0/8588 1/4402 - - - - - - -
?/? c.212+21G>A r.(=) p.(=) g.41258452C>T Copied from the Exome Variant Server BRCA1_000239 2/12990 2/8588 0/4402 - - - - - - -
?/? c.212+23T>A r.(=) p.(=) g.41258450A>T Copied from the Exome Variant Server BRCA1_000238 138/12988 0/8586 138/4402 - - - - - - -
?/? c.212+36A>T r.(=) p.(=) g.41258437T>A Copied from the Exome Variant Server BRCA1_000237 1/12992 0/8592 1/4400 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.41256898G>A Copied from the Exome Variant Server BRCA1_000236 1/13006 1/8600 0/4406 - - - - - - -
?/? c.292G>T r.(?) p.(Gly98Cys) g.41256894C>A Copied from the Exome Variant Server BRCA1_000235 1/13006 1/8600 0/4406 - - - - - - -
?/? c.301+7G>A r.(=) p.(=) g.41256878C>T Copied from the Exome Variant Server BRCA1_000234 3/13006 3/8600 0/4406 - - - - - - -
?/? c.301+8T>C r.(=) p.(=) g.41256877A>G Copied from the Exome Variant Server BRCA1_000233 7/13006 0/8600 7/4406 - - - - - - -
?/? c.314A>G r.(?) p.(Tyr105Cys) g.41256266T>C Copied from the Exome Variant Server BRCA1_000232 1/13006 1/8600 0/4406 - - - - - - -
?/? c.380G>A r.(?) p.(Ser127Asn) g.41256200C>T Copied from the Exome Variant Server BRCA1_000231 1/13006 1/8600 0/4406 - - - - - - -
?/? c.441+17T>C r.(=) p.(=) g.41256122A>G Copied from the Exome Variant Server BRCA1_000230 1/13006 0/8600 1/4406 - - - - - - -
?/? c.441+18C>T r.(=) p.(=) g.41256121G>A Copied from the Exome Variant Server BRCA1_000229 1/13006 0/8600 1/4406 - - - - - - -
?/? c.442-34C>T r.(=) p.(=) g.41251931G>A Copied from the Exome Variant Server BRCA1_000228 2285/13006 2070/8600 215/4406 - - - - - - -
?/? c.528G>A r.(=) p.(=) g.41251811C>T Copied from the Exome Variant Server BRCA1_000227 3/13006 0/8600 3/4406 - - - - - - -
?/? c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C Copied from the Exome Variant Server BRCA1_000226 4/13006 3/8600 1/4406 - - - - - - -
?/? c.547+49T>C r.(=) p.(=) g.41251743A>G Copied from the Exome Variant Server BRCA1_000225 1/13006 0/8600 1/4406 - - - - - - -
?/? c.548-58del r.(=) p.(=) g.41249364del Copied from the Exome Variant Server BRCA1_000224 3419/12282 2625/8130 794/4152 - - - - - - -
?/? c.548-9del r.(=) p.(=) g.41249315del Copied from the Exome Variant Server BRCA1_000223 2/12512 0/8248 2/4264 - - - - - - -
?/? c.557C>A r.(?) p.(Ser186Tyr) g.41249297G>T Copied from the Exome Variant Server BRCA1_000222 30/13002 0/8596 30/4406 - - - - - - -
?/? c.571G>A r.(?) p.(Val191Ile) g.41249283C>T Copied from the Exome Variant Server BRCA1_000221 4/13004 1/8598 3/4406 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.41249263G>A Copied from the Exome Variant Server BRCA1_000220 16/13006 15/8600 1/4406 - - - - - - -
?/? c.593+3G>A r.spl? p.? g.41249258C>T Copied from the Exome Variant Server BRCA1_000219 1/13006 0/8600 1/4406 - - - - - - -
?/? c.593+9A>G r.(=) p.(=) g.41249252T>C Copied from the Exome Variant Server BRCA1_000218 1/13004 1/8598 0/4406 - - - - - - -
?/? c.594-34T>C r.(=) p.(=) g.41247973A>G Copied from the Exome Variant Server BRCA1_000217 1/13006 1/8600 0/4406 - - - - - - -
?/? c.594-2A>C r.spl? p.? g.41247941T>G Copied from the Exome Variant Server BRCA1_000216 1/13006 1/8600 0/4406 - - - - - - -
?/? c.641A>G r.(?) p.(Asp214Gly) g.41247892T>C Copied from the Exome Variant Server BRCA1_000215 1/13006 1/8600 0/4406 - - - - - - -
?/? c.661G>T r.(?) p.(Ala221Ser) g.41247872C>A Copied from the Exome Variant Server BRCA1_000214 1/13006 1/8600 0/4406 - - - - - - -
?/? c.670+16G>A r.(=) p.(=) g.41247847C>T Copied from the Exome Variant Server BRCA1_000213 1/13006 1/8600 0/4406 - - - - - - -
?/? c.670+26C>G r.(=) p.(=) g.41247837G>C Copied from the Exome Variant Server BRCA1_000212 1/13004 0/8600 1/4404 - - - - - - -
?/? c.736T>G r.(?) p.(Leu246Val) g.41246812A>C Copied from the Exome Variant Server BRCA1_000211 3/13006 3/8600 0/4406 - - - - - - -
?/? c.765G>A r.(=) p.(=) g.41246783C>T Copied from the Exome Variant Server BRCA1_000210 15/13006 1/8600 14/4406 - - - - - - -
?/? c.807G>A r.(=) p.(=) g.41246741C>T Copied from the Exome Variant Server BRCA1_000209 4/13006 0/8600 4/4406 - - - - - - -
?/? c.879T>G r.(=) p.(=) g.41246669A>C Copied from the Exome Variant Server BRCA1_000208 1/13006 0/8600 1/4406 - - - - - - -
?/? c.890T>A r.(?) p.(Met297Lys) g.41246658A>T Copied from the Exome Variant Server BRCA1_000207 1/13006 1/8600 0/4406 - - - - - - -
?/? c.946A>G r.(?) p.(Ser316Gly) g.41246602T>C Copied from the Exome Variant Server BRCA1_000206 2/13006 2/8600 0/4406 - - - - - - -
?/? c.981A>G r.(=) p.(=) g.41246567T>C Copied from the Exome Variant Server BRCA1_000205 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1001C>T r.(?) p.(Pro334Leu) g.41246547G>A Copied from the Exome Variant Server BRCA1_000204 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1065G>A r.(=) p.(=) g.41246483C>T Copied from the Exome Variant Server BRCA1_000203 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1067A>G r.(?) p.(Gln356Arg) g.41246481T>C Copied from the Exome Variant Server BRCA1_000202 597/13006 552/8600 45/4406 - - - - - - -
?/? c.1072C>T r.(=) p.(=) g.41246476G>A Copied from the Exome Variant Server BRCA1_000201 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1117A>G r.(?) p.(Ile373Val) g.41246431T>C Copied from the Exome Variant Server BRCA1_000200 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1137T>G r.(?) p.(Ile379Met) g.41246411A>C Copied from the Exome Variant Server BRCA1_000199 28/13006 0/8600 28/4406 - - - - - - -
?/? c.1209T>C r.(=) p.(=) g.41246339A>G Copied from the Exome Variant Server BRCA1_000198 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1225G>C r.(?) p.(Val409Leu) g.41246323C>G Copied from the Exome Variant Server BRCA1_000197 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1227A>G r.(=) p.(=) g.41246321T>C Copied from the Exome Variant Server BRCA1_000196 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1233T>G r.(?) p.(Asp411Glu) g.41246315A>C Copied from the Exome Variant Server BRCA1_000195 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.41246306G>A Copied from the Exome Variant Server BRCA1_000194 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1258G>T r.(?) p.(Asp420Tyr) g.41246290C>A Copied from the Exome Variant Server BRCA1_000193 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1361G>A r.(?) p.(Ser454Asn) g.41246187C>T Copied from the Exome Variant Server BRCA1_000192 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1381T>C r.(?) p.(Phe461Leu) g.41246167A>G Copied from the Exome Variant Server BRCA1_000191 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1384G>A r.(?) p.(Gly462Arg) g.41246164C>T Copied from the Exome Variant Server BRCA1_000190 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1418A>G r.(?) p.(Asn473Ser) g.41246130T>C Copied from the Exome Variant Server BRCA1_000189 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1427A>G r.(?) p.(His476Arg) g.41246121T>C Copied from the Exome Variant Server BRCA1_000188 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1456T>C r.(?) p.(Phe486Leu) g.41246092A>G Copied from the Exome Variant Server BRCA1_000187 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1459G>T r.(?) p.(Val487Phe) g.41246089C>A Copied from the Exome Variant Server BRCA1_000186 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1486C>T r.(?) p.(Arg496Cys) g.41246062G>A Copied from the Exome Variant Server BRCA1_000185 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1487G>A r.(?) p.(Arg496His) g.41246061C>T Copied from the Exome Variant Server BRCA1_000184 8/13006 8/8600 0/4406 - - - - - - -
?/? c.1508A>G r.(?) p.(Lys503Arg) g.41246040T>C Copied from the Exome Variant Server BRCA1_000183 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1510C>T r.(?) p.(Arg504Cys) g.41246038G>A Copied from the Exome Variant Server BRCA1_000182 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1511G>A r.(?) p.(Arg504His) g.41246037C>T Copied from the Exome Variant Server BRCA1_000181 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1561G>A r.(?) p.(Ala521Thr) g.41245987C>T Copied from the Exome Variant Server BRCA1_000180 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1573G>A r.(?) p.(Val525Ile) g.41245975C>T Copied from the Exome Variant Server BRCA1_000179 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1600C>G r.(?) p.(Gln534Glu) g.41245948G>C Copied from the Exome Variant Server BRCA1_000178 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1616C>T r.(?) p.(Thr539Met) g.41245932G>A Copied from the Exome Variant Server BRCA1_000177 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1617G>A r.(=) p.(=) g.41245931C>T Copied from the Exome Variant Server BRCA1_000176 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1648A>C r.(?) p.(Asn550His) g.41245900T>G Copied from the Exome Variant Server BRCA1_000175 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1747A>G r.(?) p.(Lys583Glu) g.41245801T>C Copied from the Exome Variant Server BRCA1_000174 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1789G>A r.(?) p.(Glu597Lys) g.41245759C>T Copied from the Exome Variant Server BRCA1_000173 4/13002 2/8598 2/4404 - - - - - - -
?/? c.1802A>G r.(?) p.(His601Arg) g.41245746T>C Copied from the Exome Variant Server BRCA1_000172 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1846_1848del r.(?) p.(Ser616del) g.41245700_41245702del Copied from the Exome Variant Server BRCA1_000171 20/12498 3/8242 17/4256 - - - - - - -
?/? c.1865C>T r.(?) p.(Ala622Val) g.41245683G>A Copied from the Exome Variant Server BRCA1_000170 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1878A>G r.(=) p.(=) g.41245670T>C Copied from the Exome Variant Server BRCA1_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1881C>G r.(=) p.(=) g.41245667G>C Copied from the Exome Variant Server BRCA1_000168 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1905T>C r.(=) p.(=) g.41245643A>G Copied from the Exome Variant Server BRCA1_000167 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1971A>G r.(=) p.(=) g.41245577T>C Copied from the Exome Variant Server BRCA1_000166 113/13004 1/8600 112/4404 - - - - - - -
?/? c.1974G>C r.(?) p.(Met658Ile) g.41245574C>G Copied from the Exome Variant Server BRCA1_000165 3/13004 3/8600 0/4404 - - - - - - -
?/? c.2043T>G r.(?) p.(Ser681Arg) g.41245505A>C Copied from the Exome Variant Server BRCA1_000164 1/13004 0/8600 1/4404 - - - - - - -
?/? c.2077G>A r.(?) p.(Asp693Asn) g.41245471C>T Copied from the Exome Variant Server BRCA1_000163 706/13004 604/8600 102/4404 - - - - - - -
?/? c.2082C>T r.(=) p.(=) g.41245466G>A Copied from the Exome Variant Server BRCA1_000162 3845/13004 2790/8600 1055/4404 - - - - - - -
?/? c.2083G>T r.(?) p.(Asp695Tyr) g.41245465C>A Copied from the Exome Variant Server BRCA1_000161 1/13004 1/8600 0/4404 - - - - - - -
?/? c.2109A>G r.(=) p.(=) g.41245439T>C Copied from the Exome Variant Server BRCA1_000160 22/13004 1/8600 21/4404 - - - - - - -
?/? c.2155A>G r.(?) p.(Lys719Glu) g.41245393T>C Copied from the Exome Variant Server BRCA1_000159 5/13006 0/8600 5/4406 - - - - - - -
?/? c.2167A>G r.(?) p.(Asn723Asp) g.41245381T>C Copied from the Exome Variant Server BRCA1_000158 32/13006 0/8600 32/4406 - - - - - - -
?/? c.2232T>C r.(=) p.(=) g.41245316A>G Copied from the Exome Variant Server BRCA1_000157 5/13006 0/8600 5/4406 - - - - - - -
?/? c.2306T>A r.(?) p.(Ile769Asn) g.41245242A>T Copied from the Exome Variant Server BRCA1_000156 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2311T>C r.(=) p.(=) g.41245237A>G Copied from the Exome Variant Server BRCA1_000155 3611/13006 2784/8600 827/4406 - - - - - - -
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