Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43045678_43047703delCA2581463416BRCA1c.5404_5589del
c.5407_5592del
c.5281_5466del
c.5401_5586del
c.5329_5514del
c.2095_2280del
c.1957_2142del
c.4519_4704del
c.5284_5469del
c.5473_5658del
c.5266_5451del
c.1969_2154del
n.1290_1475del
n.771_956del
c.5470_5655del
c.1794_1979del
c.1981_2166del
c.*5190_*5375del
c.2021_*106del
c.337_522del
c.880_1065del
c.106_291del
n.5543_5728del
n.5584_5769del
17g.43047641_43047778delCA2499224348BRCA1c.5404-73_5464+4del
c.5407-73_5467+4del
c.5281-73_5341+4del
c.5401-73_5461+4del
c.5329-73_5389+4del
c.2095-73_2155+4del
c.1957-73_2017+4del
c.4519-73_4579+4del
c.5284-73_5344+4del
c.5473-73_5533+4del
c.5266-73_5326+4del
c.1969-73_2029+4del
n.1290-73_1350+4del
n.698_831+4del
c.5470-73_5530+4del
c.1794-73_1854+4del
c.1981-73_2041+4del
c.*5190-73_*5250+4del
c.2021-73_2081+4del
c.337-73_397+4del
c.880-73_940+4del
c.106-73_166+4del
n.5543-73_5603+4del
n.5584-73_5644+4del
 ClinVar dbSNP
17g.43047642_43047778delCA3060571190BRCA1c.5404-75_5464+1del
c.5407-75_5467+1del
c.5281-75_5341+1del
c.5401-75_5461+1del
c.5329-75_5389+1del
c.2095-75_2155+1del
c.1957-75_2017+1del
c.4519-75_4579+1del
c.5284-75_5344+1del
c.5473-75_5533+1del
c.5266-75_5326+1del
c.1969-75_2029+1del
n.1290-75_1350+1del
n.696_831+1del
c.5470-75_5530+1del
c.1794-75_1854+1del
c.1981-75_2041+1del
c.*5190-75_*5250+1del
c.2021-75_2081+1del
c.337-75_397+1del
c.880-75_940+1del
c.106-75_166+1del
n.5543-75_5603+1del
n.5584-75_5644+1del
 ClinVar
17g.43047695delCA003581BRCA1c.5414del (p.Pro1805GlnfsTer28)
c.5417del (p.Pro1806GlnfsTer28)
c.5291del (p.Pro1764GlnfsTer28)
c.5411del (p.Pro1804GlnfsTer28)
c.5339del (p.Pro1780GlnfsTer28)
c.2105del (p.Pro702GlnfsTer28)
c.1967del (p.Pro656GlnfsTer28)
c.4529del (p.Pro1510GlnfsTer28)
c.5294del (p.Pro1765GlnfsTer28)
c.5483del (p.Pro1828GlnfsTer28)
c.5276del (p.Pro1759GlnfsTer28)
c.1979del (p.Pro660GlnfsTer28)
n.1300del
n.781del
c.5480del (p.Pro1827GlnfsTer28)
c.1804del
c.1991del (p.Pro664GlnfsTer28)
c.*5200del (n.*5200del)
c.2031del (p.Asn678IlefsTer?)
c.347del (p.Pro116GlnfsTer28)
c.890del (p.Pro297GlnfsTer28)
c.116del (p.Pro39GlnfsTer28)
n.5553del
n.5594del
 ClinVar dbSNP
17g.43047695G>ACA10590628BRCA1c.5412C>T (p.His1804=)
c.5415C>T (p.His1805=)
c.5289C>T (p.His1763=)
c.5409C>T (p.His1803=)
c.5337C>T (p.His1779=)
c.2103C>T (p.His701=)
c.1965C>T (p.His655=)
c.4527C>T (p.His1509=)
c.5292C>T (p.His1764=)
c.5481C>T (p.His1827=)
c.5274C>T (p.His1758=)
c.1977C>T (p.His659=)
n.1298C>T
n.779C>T
c.5478C>T (p.His1826=)
c.1802C>T
c.1989C>T (p.His663=)
c.*5198C>T (n.*5198C>T)
c.2029C>T (p.Pro677Ser)
c.345C>T (p.His115=)
c.888C>T (p.His296=)
c.114C>T (p.His38=)
n.5551C>T
n.5592C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43047695G>CCA10590629BRCA1c.5412C>G (p.His1804Gln)
c.5415C>G (p.His1805Gln)
c.5289C>G (p.His1763Gln)
c.5409C>G (p.His1803Gln)
c.5337C>G (p.His1779Gln)
c.2103C>G (p.His701Gln)
c.1965C>G (p.His655Gln)
c.4527C>G (p.His1509Gln)
c.5292C>G (p.His1764Gln)
c.5481C>G (p.His1827Gln)
c.5274C>G (p.His1758Gln)
c.1977C>G (p.His659Gln)
n.1298C>G
n.779C>G
c.5478C>G (p.His1826Gln)
c.1802C>G
c.1989C>G (p.His663Gln)
c.*5198C>G (n.*5198C>G)
c.2029C>G (p.Pro677Ala)
c.345C>G (p.His115Gln)
c.888C>G (p.His296Gln)
c.114C>G (p.His38Gln)
n.5551C>G
n.5592C>G
 ClinVar dbSNP
17g.43047695G=CA2260762029BRCA1c.5412C= (p.His1804=)
c.5415C= (p.His1805=)
c.5289C= (p.His1763=)
c.5409C= (p.His1803=)
c.5337C= (p.His1779=)
c.2103C= (p.His701=)
c.1965C= (p.His655=)
c.4527C= (p.His1509=)
c.5292C= (p.His1764=)
c.5481C= (p.His1827=)
c.5274C= (p.His1758=)
c.1977C= (p.His659=)
n.1298C=
n.779C=
c.5478C= (p.His1826=)
c.1802C=
c.1989C= (p.His663=)
c.*5198C= (n.*5198C=)
c.2029C= (p.Pro677=)
c.345C= (p.His115=)
c.888C= (p.His296=)
c.114C= (p.His38=)
n.5551C=
n.5592C=
17g.43047695G>TCA10590631BRCA1c.5412C>A (p.His1804Gln)
c.5415C>A (p.His1805Gln)
c.5289C>A (p.His1763Gln)
c.5409C>A (p.His1803Gln)
c.5337C>A (p.His1779Gln)
c.2103C>A (p.His701Gln)
c.1965C>A (p.His655Gln)
c.4527C>A (p.His1509Gln)
c.5292C>A (p.His1764Gln)
c.5481C>A (p.His1827Gln)
c.5274C>A (p.His1758Gln)
c.1977C>A (p.His659Gln)
n.1298C>A
n.779C>A
c.5478C>A (p.His1826Gln)
c.1802C>A
c.1989C>A (p.His663Gln)
c.*5198C>A (n.*5198C>A)
c.2029C>A (p.Pro677Thr)
c.345C>A (p.His115Gln)
c.888C>A (p.His296Gln)
c.114C>A (p.His38Gln)
n.5551C>A
n.5592C>A
 ClinVar dbSNP
17g.43047696_43047697delCA3063902865BRCA1c.5411_5412del (p.His1804ProfsTer24)
c.5414_5415del (p.His1805ProfsTer24)
c.5288_5289del (p.His1763ProfsTer24)
c.5408_5409del (p.His1803ProfsTer24)
c.5336_5337del (p.His1779ProfsTer24)
c.2102_2103del (p.His701ProfsTer24)
c.1964_1965del (p.His655ProfsTer24)
c.4526_4527del (p.His1509ProfsTer24)
c.5291_5292del (p.His1764ProfsTer24)
c.5480_5481del (p.His1827ProfsTer24)
c.5273_5274del (p.His1758ProfsTer24)
c.1976_1977del (p.His659ProfsTer24)
n.1297_1298del
n.778_779del
c.5477_5478del (p.His1826ProfsTer24)
c.1801_1802del
c.1988_1989del (p.His663ProfsTer24)
c.*5197_*5198del (n.*5197_*5198del)
c.2028_2029del (p.Pro677GlnfsTer28)
c.344_345del (p.His115ProfsTer24)
c.887_888del (p.His296ProfsTer24)
c.113_114del (p.His38ProfsTer24)
n.5550_5551del
n.5591_5592del
17g.43047695_43047703delinsGTGGACACCCA2260762028BRCA1c.5404_5412delinsGGTGTCCAC (p.Gly1802=)
c.5407_5415delinsGGTGTCCAC (p.Gly1803=)
c.5281_5289delinsGGTGTCCAC (p.Gly1761=)
c.5401_5409delinsGGTGTCCAC (p.Gly1801=)
c.5329_5337delinsGGTGTCCAC (p.Gly1777=)
c.2095_2103delinsGGTGTCCAC (p.Gly699=)
c.1957_1965delinsGGTGTCCAC (p.Gly653=)
c.4519_4527delinsGGTGTCCAC (p.Gly1507=)
c.5284_5292delinsGGTGTCCAC (p.Gly1762=)
c.5473_5481delinsGGTGTCCAC (p.Gly1825=)
c.5266_5274delinsGGTGTCCAC (p.Gly1756=)
c.1969_1977delinsGGTGTCCAC (p.Gly657=)
n.1290_1298delinsGGTGTCCAC
n.771_779delinsGGTGTCCAC
c.5470_5478delinsGGTGTCCAC (p.Gly1824=)
c.1794_1802delinsGGTGTCCAC
c.1981_1989delinsGGTGTCCAC (p.Gly661=)
c.*5190_*5198delinsGGTGTCCAC (n.*5190_*5198delinsGGTGTCCAC)
c.2021_2029delinsGGTGTCCAC (p.Gly674=)
c.337_345delinsGGTGTCCAC (p.Gly113=)
c.880_888delinsGGTGTCCAC (p.Gly294=)
c.106_114delinsGGTGTCCAC (p.Gly36=)
n.5543_5551delinsGGTGTCCAC
n.5584_5592delinsGGTGTCCAC
17g.43047696T>ACA10590633BRCA1c.5411A>T (p.His1804Leu)
c.5414A>T (p.His1805Leu)
c.5288A>T (p.His1763Leu)
c.5408A>T (p.His1803Leu)
c.5336A>T (p.His1779Leu)
c.2102A>T (p.His701Leu)
c.1964A>T (p.His655Leu)
c.4526A>T (p.His1509Leu)
c.5291A>T (p.His1764Leu)
c.5480A>T (p.His1827Leu)
c.5273A>T (p.His1758Leu)
c.1976A>T (p.His659Leu)
n.1297A>T
n.778A>T
c.5477A>T (p.His1826Leu)
c.1801A>T
c.1988A>T (p.His663Leu)
c.*5197A>T (n.*5197A>T)
c.2028A>T (p.Pro676=)
c.344A>T (p.His115Leu)
c.887A>T (p.His296Leu)
c.113A>T (p.His38Leu)
n.5550A>T
n.5591A>T
 ClinVar dbSNP
17g.43047696T>CCA10590634BRCA1c.5411A>G (p.His1804Arg)
c.5414A>G (p.His1805Arg)
c.5288A>G (p.His1763Arg)
c.5408A>G (p.His1803Arg)
c.5336A>G (p.His1779Arg)
c.2102A>G (p.His701Arg)
c.1964A>G (p.His655Arg)
c.4526A>G (p.His1509Arg)
c.5291A>G (p.His1764Arg)
c.5480A>G (p.His1827Arg)
c.5273A>G (p.His1758Arg)
c.1976A>G (p.His659Arg)
n.1297A>G
n.778A>G
c.5477A>G (p.His1826Arg)
c.1801A>G
c.1988A>G (p.His663Arg)
c.*5197A>G (n.*5197A>G)
c.2028A>G (p.Pro676=)
c.344A>G (p.His115Arg)
c.887A>G (p.His296Arg)
c.113A>G (p.His38Arg)
n.5550A>G
n.5591A>G
 ClinVar dbSNP
17g.43047696T>GCA003579BRCA1c.5411A>C (p.His1804Pro)
c.5414A>C (p.His1805Pro)
c.5288A>C (p.His1763Pro)
c.5408A>C (p.His1803Pro)
c.5336A>C (p.His1779Pro)
c.2102A>C (p.His701Pro)
c.1964A>C (p.His655Pro)
c.4526A>C (p.His1509Pro)
c.5291A>C (p.His1764Pro)
c.5480A>C (p.His1827Pro)
c.5273A>C (p.His1758Pro)
c.1976A>C (p.His659Pro)
n.1297A>C
n.778A>C
c.5477A>C (p.His1826Pro)
c.1801A>C
c.1988A>C (p.His663Pro)
c.*5197A>C (n.*5197A>C)
c.2028A>C (p.Pro676=)
c.344A>C (p.His115Pro)
c.887A>C (p.His296Pro)
c.113A>C (p.His38Pro)
n.5550A>C
n.5591A>C
 ClinVar dbSNP
17g.43047696T=CA2260762030BRCA1c.5411A= (p.His1804=)
c.5414A= (p.His1805=)
c.5288A= (p.His1763=)
c.5408A= (p.His1803=)
c.5336A= (p.His1779=)
c.2102A= (p.His701=)
c.1964A= (p.His655=)
c.4526A= (p.His1509=)
c.5291A= (p.His1764=)
c.5480A= (p.His1827=)
c.5273A= (p.His1758=)
c.1976A= (p.His659=)
n.1297A=
n.778A=
c.5477A= (p.His1826=)
c.1801A=
c.1988A= (p.His663=)
c.*5197A= (n.*5197A=)
c.2028A= (p.Pro676=)
c.344A= (p.His115=)
c.887A= (p.His296=)
c.113A= (p.His38=)
n.5550A=
n.5591A=
17g.43047696_43047703delCA10590059BRCA1c.5404_5411del (p.Gly1802ProfsTer24)
c.5407_5414del (p.Gly1803ProfsTer24)
c.5281_5288del (p.Gly1761ProfsTer24)
c.5401_5408del (p.Gly1801ProfsTer24)
c.5329_5336del (p.Gly1777ProfsTer24)
c.2095_2102del (p.Gly699ProfsTer24)
c.1957_1964del (p.Gly653ProfsTer24)
c.4519_4526del (p.Gly1507ProfsTer24)
c.5284_5291del (p.Gly1762ProfsTer24)
c.5473_5480del (p.Gly1825ProfsTer24)
c.5266_5273del (p.Gly1756ProfsTer24)
c.1969_1976del (p.Gly657ProfsTer24)
n.1290_1297del
n.771_778del
c.5470_5477del (p.Gly1824ProfsTer24)
c.1794_1801del
c.1981_1988del (p.Gly661ProfsTer24)
c.*5190_*5197del (n.*5190_*5197del)
c.2021_2028del (p.Gly674AlafsTer29)
c.337_344del (p.Gly113ProfsTer24)
c.880_887del (p.Gly294ProfsTer24)
c.106_113del (p.Gly36ProfsTer24)
n.5543_5550del
n.5584_5591del
 ClinVar dbSNP
17g.43047697G>ACA003578BRCA1c.5410C>T (p.His1804Tyr)
c.5413C>T (p.His1805Tyr)
c.5287C>T (p.His1763Tyr)
c.5407C>T (p.His1803Tyr)
c.5335C>T (p.His1779Tyr)
c.2101C>T (p.His701Tyr)
c.1963C>T (p.His655Tyr)
c.4525C>T (p.His1509Tyr)
c.5290C>T (p.His1764Tyr)
c.5479C>T (p.His1827Tyr)
c.5272C>T (p.His1758Tyr)
c.1975C>T (p.His659Tyr)
n.1296C>T
n.777C>T
c.5476C>T (p.His1826Tyr)
c.1800C>T
c.1987C>T (p.His663Tyr)
c.*5196C>T (n.*5196C>T)
c.2027C>T (p.Pro676Leu)
c.343C>T (p.His115Tyr)
c.886C>T (p.His296Tyr)
c.112C>T (p.His38Tyr)
n.5549C>T
n.5590C>T
 ClinVar dbSNP gnomAD v4
17g.43047697G>CCA10590635BRCA1c.5410C>G (p.His1804Asp)
c.5413C>G (p.His1805Asp)
c.5287C>G (p.His1763Asp)
c.5407C>G (p.His1803Asp)
c.5335C>G (p.His1779Asp)
c.2101C>G (p.His701Asp)
c.1963C>G (p.His655Asp)
c.4525C>G (p.His1509Asp)
c.5290C>G (p.His1764Asp)
c.5479C>G (p.His1827Asp)
c.5272C>G (p.His1758Asp)
c.1975C>G (p.His659Asp)
n.1296C>G
n.777C>G
c.5476C>G (p.His1826Asp)
c.1800C>G
c.1987C>G (p.His663Asp)
c.*5196C>G (n.*5196C>G)
c.2027C>G (p.Pro676Arg)
c.343C>G (p.His115Asp)
c.886C>G (p.His296Asp)
c.112C>G (p.His38Asp)
n.5549C>G
n.5590C>G
 ClinVar dbSNP
17g.43047697G=CA2260762031BRCA1c.5410C= (p.His1804=)
c.5413C= (p.His1805=)
c.5287C= (p.His1763=)
c.5407C= (p.His1803=)
c.5335C= (p.His1779=)
c.2101C= (p.His701=)
c.1963C= (p.His655=)
c.4525C= (p.His1509=)
c.5290C= (p.His1764=)
c.5479C= (p.His1827=)
c.5272C= (p.His1758=)
c.1975C= (p.His659=)
n.1296C=
n.777C=
c.5476C= (p.His1826=)
c.1800C=
c.1987C= (p.His663=)
c.*5196C= (n.*5196C=)
c.2027C= (p.Pro676=)
c.343C= (p.His115=)
c.886C= (p.His296=)
c.112C= (p.His38=)
n.5549C=
n.5590C=
17g.43047697G>TCA10590637BRCA1c.5410C>A (p.His1804Asn)
c.5413C>A (p.His1805Asn)
c.5287C>A (p.His1763Asn)
c.5407C>A (p.His1803Asn)
c.5335C>A (p.His1779Asn)
c.2101C>A (p.His701Asn)
c.1963C>A (p.His655Asn)
c.4525C>A (p.His1509Asn)
c.5290C>A (p.His1764Asn)
c.5479C>A (p.His1827Asn)
c.5272C>A (p.His1758Asn)
c.1975C>A (p.His659Asn)
n.1296C>A
n.777C>A
c.5476C>A (p.His1826Asn)
c.1800C>A
c.1987C>A (p.His663Asn)
c.*5196C>A (n.*5196C>A)
c.2027C>A (p.Pro676Gln)
c.343C>A (p.His115Asn)
c.886C>A (p.His296Asn)
c.112C>A (p.His38Asn)
n.5549C>A
n.5590C>A
 ClinVar dbSNP
17g.43047698G>ACA003577BRCA1c.5409C>T (p.Val1803=)
c.5412C>T (p.Val1804=)
c.5286C>T (p.Val1762=)
c.5406C>T (p.Val1802=)
c.5334C>T (p.Val1778=)
c.2100C>T (p.Val700=)
c.1962C>T (p.Val654=)
c.4524C>T (p.Val1508=)
c.5289C>T (p.Val1763=)
c.5478C>T (p.Val1826=)
c.5271C>T (p.Val1757=)
c.1974C>T (p.Val658=)
n.1295C>T
n.776C>T
c.5475C>T (p.Val1825=)
c.1799C>T
c.1986C>T (p.Val662=)
c.*5195C>T (n.*5195C>T)
c.2026C>T (p.Pro676Ser)
c.342C>T (p.Val114=)
c.885C>T (p.Val295=)
c.111C>T (p.Val37=)
n.5548C>T
n.5589C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43047698G>CCA10590639BRCA1c.5409C>G (p.Val1803=)
c.5412C>G (p.Val1804=)
c.5286C>G (p.Val1762=)
c.5406C>G (p.Val1802=)
c.5334C>G (p.Val1778=)
c.2100C>G (p.Val700=)
c.1962C>G (p.Val654=)
c.4524C>G (p.Val1508=)
c.5289C>G (p.Val1763=)
c.5478C>G (p.Val1826=)
c.5271C>G (p.Val1757=)
c.1974C>G (p.Val658=)
n.1295C>G
n.776C>G
c.5475C>G (p.Val1825=)
c.1799C>G
c.1986C>G (p.Val662=)
c.*5195C>G (n.*5195C>G)
c.2026C>G (p.Pro676Ala)
c.342C>G (p.Val114=)
c.885C>G (p.Val295=)
c.111C>G (p.Val37=)
n.5548C>G
n.5589C>G
 ClinVar dbSNP
17g.43047698G=CA2260762032BRCA1c.5409C= (p.Val1803=)
c.5412C= (p.Val1804=)
c.5286C= (p.Val1762=)
c.5406C= (p.Val1802=)
c.5334C= (p.Val1778=)
c.2100C= (p.Val700=)
c.1962C= (p.Val654=)
c.4524C= (p.Val1508=)
c.5289C= (p.Val1763=)
c.5478C= (p.Val1826=)
c.5271C= (p.Val1757=)
c.1974C= (p.Val658=)
n.1295C=
n.776C=
c.5475C= (p.Val1825=)
c.1799C=
c.1986C= (p.Val662=)
c.*5195C= (n.*5195C=)
c.2026C= (p.Pro676=)
c.342C= (p.Val114=)
c.885C= (p.Val295=)
c.111C= (p.Val37=)
n.5548C=
n.5589C=
17g.43047698G>TCA10590640BRCA1c.5409C>A (p.Val1803=)
c.5412C>A (p.Val1804=)
c.5286C>A (p.Val1762=)
c.5406C>A (p.Val1802=)
c.5334C>A (p.Val1778=)
c.2100C>A (p.Val700=)
c.1962C>A (p.Val654=)
c.4524C>A (p.Val1508=)
c.5289C>A (p.Val1763=)
c.5478C>A (p.Val1826=)
c.5271C>A (p.Val1757=)
c.1974C>A (p.Val658=)
n.1295C>A
n.776C>A
c.5475C>A (p.Val1825=)
c.1799C>A
c.1986C>A (p.Val662=)
c.*5195C>A (n.*5195C>A)
c.2026C>A (p.Pro676Thr)
c.342C>A (p.Val114=)
c.885C>A (p.Val295=)
c.111C>A (p.Val37=)
n.5548C>A
n.5589C>A
 ClinVar dbSNP
17g.43047699A=CA2260762033BRCA1c.5408T= (p.Val1803=)
c.5411T= (p.Val1804=)
c.5285T= (p.Val1762=)
c.5405T= (p.Val1802=)
c.5333T= (p.Val1778=)
c.2099T= (p.Val700=)
c.1961T= (p.Val654=)
c.4523T= (p.Val1508=)
c.5288T= (p.Val1763=)
c.5477T= (p.Val1826=)
c.5270T= (p.Val1757=)
c.1973T= (p.Val658=)
n.1294T=
n.775T=
c.5474T= (p.Val1825=)
c.1798T=
c.1985T= (p.Val662=)
c.*5194T= (n.*5194T=)
c.2025T= (p.Cys675=)
c.341T= (p.Val114=)
c.884T= (p.Val295=)
c.110T= (p.Val37=)
n.5547T=
n.5588T=
17g.43047699A>CCA10590641BRCA1c.5408T>G (p.Val1803Gly)
c.5411T>G (p.Val1804Gly)
c.5285T>G (p.Val1762Gly)
c.5405T>G (p.Val1802Gly)
c.5333T>G (p.Val1778Gly)
c.2099T>G (p.Val700Gly)
c.1961T>G (p.Val654Gly)
c.4523T>G (p.Val1508Gly)
c.5288T>G (p.Val1763Gly)
c.5477T>G (p.Val1826Gly)
c.5270T>G (p.Val1757Gly)
c.1973T>G (p.Val658Gly)
n.1294T>G
n.775T>G
c.5474T>G (p.Val1825Gly)
c.1798T>G
c.1985T>G (p.Val662Gly)
c.*5194T>G (n.*5194T>G)
c.2025T>G (p.Cys675Trp)
c.341T>G (p.Val114Gly)
c.884T>G (p.Val295Gly)
c.110T>G (p.Val37Gly)
n.5547T>G
n.5588T>G
 ClinVar dbSNP
17g.43047699A>GCA10590643BRCA1c.5408T>C (p.Val1803Ala)
c.5411T>C (p.Val1804Ala)
c.5285T>C (p.Val1762Ala)
c.5405T>C (p.Val1802Ala)
c.5333T>C (p.Val1778Ala)
c.2099T>C (p.Val700Ala)
c.1961T>C (p.Val654Ala)
c.4523T>C (p.Val1508Ala)
c.5288T>C (p.Val1763Ala)
c.5477T>C (p.Val1826Ala)
c.5270T>C (p.Val1757Ala)
c.1973T>C (p.Val658Ala)
n.1294T>C
n.775T>C
c.5474T>C (p.Val1825Ala)
c.1798T>C
c.1985T>C (p.Val662Ala)
c.*5194T>C (n.*5194T>C)
c.2025T>C (p.Cys675=)
c.341T>C (p.Val114Ala)
c.884T>C (p.Val295Ala)
c.110T>C (p.Val37Ala)
n.5547T>C
n.5588T>C
 ClinVar dbSNP
17g.43047699A>TCA003575BRCA1c.5408T>A (p.Val1803Asp)
c.5411T>A (p.Val1804Asp)
c.5285T>A (p.Val1762Asp)
c.5405T>A (p.Val1802Asp)
c.5333T>A (p.Val1778Asp)
c.2099T>A (p.Val700Asp)
c.1961T>A (p.Val654Asp)
c.4523T>A (p.Val1508Asp)
c.5288T>A (p.Val1763Asp)
c.5477T>A (p.Val1826Asp)
c.5270T>A (p.Val1757Asp)
c.1973T>A (p.Val658Asp)
n.1294T>A
n.775T>A
c.5474T>A (p.Val1825Asp)
c.1798T>A
c.1985T>A (p.Val662Asp)
c.*5194T>A (n.*5194T>A)
c.2025T>A (p.Cys675Ter)
c.341T>A (p.Val114Asp)
c.884T>A (p.Val295Asp)
c.110T>A (p.Val37Asp)
n.5547T>A
n.5588T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43047701_43047702delCA658761185BRCA1c.5407_5408del (p.Val1803ProfsTer25)
c.5410_5411del (p.Val1804ProfsTer25)
c.5284_5285del (p.Val1762ProfsTer25)
c.5404_5405del (p.Val1802ProfsTer25)
c.5332_5333del (p.Val1778ProfsTer25)
c.2098_2099del (p.Val700ProfsTer25)
c.1960_1961del (p.Val654ProfsTer25)
c.4522_4523del (p.Val1508ProfsTer25)
c.5287_5288del (p.Val1763ProfsTer25)
c.5476_5477del (p.Val1826ProfsTer25)
c.5269_5270del (p.Val1757ProfsTer25)
c.1972_1973del (p.Val658ProfsTer25)
n.1293_1294del
n.774_775del
c.5473_5474del (p.Val1825ProfsTer25)
c.1797_1798del
c.1984_1985del (p.Val662ProfsTer25)
c.*5193_*5194del (n.*5193_*5194del)
c.2024_2025del (p.Cys675SerfsTer30)
c.340_341del (p.Val114ProfsTer25)
c.883_884del (p.Val295ProfsTer25)
c.109_110del (p.Val37ProfsTer25)
n.5546_5547del
n.5587_5588del
17g.43047700C>ACA10590644BRCA1c.5407G>T (p.Val1803Phe)
c.5410G>T (p.Val1804Phe)
c.5284G>T (p.Val1762Phe)
c.5404G>T (p.Val1802Phe)
c.5332G>T (p.Val1778Phe)
c.2098G>T (p.Val700Phe)
c.1960G>T (p.Val654Phe)
c.4522G>T (p.Val1508Phe)
c.5287G>T (p.Val1763Phe)
c.5476G>T (p.Val1826Phe)
c.5269G>T (p.Val1757Phe)
c.1972G>T (p.Val658Phe)
n.1293G>T
n.774G>T
c.5473G>T (p.Val1825Phe)
c.1797G>T
c.1984G>T (p.Val662Phe)
c.*5193G>T (n.*5193G>T)
c.2024G>T (p.Cys675Phe)
c.340G>T (p.Val114Phe)
c.883G>T (p.Val295Phe)
c.109G>T (p.Val37Phe)
n.5546G>T
n.5587G>T
 ClinVar dbSNP
17g.43047700C=CA2260762034BRCA1c.5407G= (p.Val1803=)
c.5410G= (p.Val1804=)
c.5284G= (p.Val1762=)
c.5404G= (p.Val1802=)
c.5332G= (p.Val1778=)
c.2098G= (p.Val700=)
c.1960G= (p.Val654=)
c.4522G= (p.Val1508=)
c.5287G= (p.Val1763=)
c.5476G= (p.Val1826=)
c.5269G= (p.Val1757=)
c.1972G= (p.Val658=)
n.1293G=
n.774G=
c.5473G= (p.Val1825=)
c.1797G=
c.1984G= (p.Val662=)
c.*5193G= (n.*5193G=)
c.2024G= (p.Cys675=)
c.340G= (p.Val114=)
c.883G= (p.Val295=)
c.109G= (p.Val37=)
n.5546G=
n.5587G=
17g.43047700C>GCA10590646BRCA1c.5407G>C (p.Val1803Leu)
c.5410G>C (p.Val1804Leu)
c.5284G>C (p.Val1762Leu)
c.5404G>C (p.Val1802Leu)
c.5332G>C (p.Val1778Leu)
c.2098G>C (p.Val700Leu)
c.1960G>C (p.Val654Leu)
c.4522G>C (p.Val1508Leu)
c.5287G>C (p.Val1763Leu)
c.5476G>C (p.Val1826Leu)
c.5269G>C (p.Val1757Leu)
c.1972G>C (p.Val658Leu)
n.1293G>C
n.774G>C
c.5473G>C (p.Val1825Leu)
c.1797G>C
c.1984G>C (p.Val662Leu)
c.*5193G>C (n.*5193G>C)
c.2024G>C (p.Cys675Ser)
c.340G>C (p.Val114Leu)
c.883G>C (p.Val295Leu)
c.109G>C (p.Val37Leu)
n.5546G>C
n.5587G>C
 ClinVar dbSNP
17g.43047700C>TCA10590648BRCA1c.5407G>A (p.Val1803Ile)
c.5410G>A (p.Val1804Ile)
c.5284G>A (p.Val1762Ile)
c.5404G>A (p.Val1802Ile)
c.5332G>A (p.Val1778Ile)
c.2098G>A (p.Val700Ile)
c.1960G>A (p.Val654Ile)
c.4522G>A (p.Val1508Ile)
c.5287G>A (p.Val1763Ile)
c.5476G>A (p.Val1826Ile)
c.5269G>A (p.Val1757Ile)
c.1972G>A (p.Val658Ile)
n.1293G>A
n.774G>A
c.5473G>A (p.Val1825Ile)
c.1797G>A
c.1984G>A (p.Val662Ile)
c.*5193G>A (n.*5193G>A)
c.2024G>A (p.Cys675Tyr)
c.340G>A (p.Val114Ile)
c.883G>A (p.Val295Ile)
c.109G>A (p.Val37Ile)
n.5546G>A
n.5587G>A
 ClinVar dbSNP
17g.43047700dupCA2850446915BRCA1c.5407dup (p.Val1803GlyfsTer26)
c.5410dup (p.Val1804GlyfsTer26)
c.5284dup (p.Val1762GlyfsTer26)
c.5404dup (p.Val1802GlyfsTer26)
c.5332dup (p.Val1778GlyfsTer26)
c.2098dup (p.Val700GlyfsTer26)
c.1960dup (p.Val654GlyfsTer26)
c.4522dup (p.Val1508GlyfsTer26)
c.5287dup (p.Val1763GlyfsTer26)
c.5476dup (p.Val1826GlyfsTer26)
c.5269dup (p.Val1757GlyfsTer26)
c.1972dup (p.Val658GlyfsTer26)
n.1293dup
n.774dup
c.5473dup (p.Val1825GlyfsTer26)
c.1797dup
c.1984dup (p.Val662GlyfsTer26)
c.*5193dup (n.*5193dup)
c.2024dup (p.Cys675TrpfsTer31)
c.340dup (p.Val114GlyfsTer26)
c.883dup (p.Val295GlyfsTer26)
c.109dup (p.Val37GlyfsTer26)
n.5546dup
n.5587dup
17g.43047701A=CA2260762035BRCA1c.5406T= (p.Gly1802=)
c.5409T= (p.Gly1803=)
c.5283T= (p.Gly1761=)
c.5403T= (p.Gly1801=)
c.5331T= (p.Gly1777=)
c.2097T= (p.Gly699=)
c.1959T= (p.Gly653=)
c.4521T= (p.Gly1507=)
c.5286T= (p.Gly1762=)
c.5475T= (p.Gly1825=)
c.5268T= (p.Gly1756=)
c.1971T= (p.Gly657=)
n.1292T=
n.773T=
c.5472T= (p.Gly1824=)
c.1796T=
c.1983T= (p.Gly661=)
c.*5192T= (n.*5192T=)
c.2023T= (p.Cys675=)
c.339T= (p.Gly113=)
c.882T= (p.Gly294=)
c.108T= (p.Gly36=)
n.5545T=
n.5586T=
17g.43047701A>CCA10590650BRCA1c.5406T>G (p.Gly1802=)
c.5409T>G (p.Gly1803=)
c.5283T>G (p.Gly1761=)
c.5403T>G (p.Gly1801=)
c.5331T>G (p.Gly1777=)
c.2097T>G (p.Gly699=)
c.1959T>G (p.Gly653=)
c.4521T>G (p.Gly1507=)
c.5286T>G (p.Gly1762=)
c.5475T>G (p.Gly1825=)
c.5268T>G (p.Gly1756=)
c.1971T>G (p.Gly657=)
n.1292T>G
n.773T>G
c.5472T>G (p.Gly1824=)
c.1796T>G
c.1983T>G (p.Gly661=)
c.*5192T>G (n.*5192T>G)
c.2023T>G (p.Cys675Gly)
c.339T>G (p.Gly113=)
c.882T>G (p.Gly294=)
c.108T>G (p.Gly36=)
n.5545T>G
n.5586T>G
 ClinVar dbSNP gnomAD v4
17g.43047701A>GCA10590651BRCA1c.5406T>C (p.Gly1802=)
c.5409T>C (p.Gly1803=)
c.5283T>C (p.Gly1761=)
c.5403T>C (p.Gly1801=)
c.5331T>C (p.Gly1777=)
c.2097T>C (p.Gly699=)
c.1959T>C (p.Gly653=)
c.4521T>C (p.Gly1507=)
c.5286T>C (p.Gly1762=)
c.5475T>C (p.Gly1825=)
c.5268T>C (p.Gly1756=)
c.1971T>C (p.Gly657=)
n.1292T>C
n.773T>C
c.5472T>C (p.Gly1824=)
c.1796T>C
c.1983T>C (p.Gly661=)
c.*5192T>C (n.*5192T>C)
c.2023T>C (p.Cys675Arg)
c.339T>C (p.Gly113=)
c.882T>C (p.Gly294=)
c.108T>C (p.Gly36=)
n.5545T>C
n.5586T>C
 ClinVar dbSNP
17g.43047701A>TCA10590652BRCA1c.5406T>A (p.Gly1802=)
c.5409T>A (p.Gly1803=)
c.5283T>A (p.Gly1761=)
c.5403T>A (p.Gly1801=)
c.5331T>A (p.Gly1777=)
c.2097T>A (p.Gly699=)
c.1959T>A (p.Gly653=)
c.4521T>A (p.Gly1507=)
c.5286T>A (p.Gly1762=)
c.5475T>A (p.Gly1825=)
c.5268T>A (p.Gly1756=)
c.1971T>A (p.Gly657=)
n.1292T>A
n.773T>A
c.5472T>A (p.Gly1824=)
c.1796T>A
c.1983T>A (p.Gly661=)
c.*5192T>A (n.*5192T>A)
c.2023T>A (p.Cys675Ser)
c.339T>A (p.Gly113=)
c.882T>A (p.Gly294=)
c.108T>A (p.Gly36=)
n.5545T>A
n.5586T>A
 ClinVar dbSNP
17g.43047702_43047708delCA2499224349BRCA1c.5404-4_5406del
c.5407-4_5409del
c.5281-4_5283del
c.5401-4_5403del
c.5329-4_5331del
c.2095-4_2097del
c.1957-4_1959del
c.4519-4_4521del
c.5284-4_5286del
c.5473-4_5475del
c.5266-4_5268del
c.1969-4_1971del
n.1290-4_1292del
n.767_773del
c.5470-4_5472del
c.1794-4_1796del
c.1981-4_1983del
c.*5190-4_*5192del
c.2021-4_2023del
c.337-4_339del
c.880-4_882del
c.106-4_108del
n.5543-4_5545del
n.5584-4_5586del
17g.43047702C>ACA10590653BRCA1c.5405G>T (p.Gly1802Val)
c.5408G>T (p.Gly1803Val)
c.5282G>T (p.Gly1761Val)
c.5402G>T (p.Gly1801Val)
c.5330G>T (p.Gly1777Val)
c.2096G>T (p.Gly699Val)
c.1958G>T (p.Gly653Val)
c.4520G>T (p.Gly1507Val)
c.5285G>T (p.Gly1762Val)
c.5474G>T (p.Gly1825Val)
c.5267G>T (p.Gly1756Val)
c.1970G>T (p.Gly657Val)
n.1291G>T
n.772G>T
c.5471G>T (p.Gly1824Val)
c.1795G>T
c.1982G>T (p.Gly661Val)
c.*5191G>T (n.*5191G>T)
c.2022G>T (p.Gly674=)
c.338G>T (p.Gly113Val)
c.881G>T (p.Gly294Val)
c.107G>T (p.Gly36Val)
n.5544G>T
n.5585G>T
 ClinVar dbSNP gnomAD v4
17g.43047702C=CA2260762036BRCA1c.5405G= (p.Gly1802=)
c.5408G= (p.Gly1803=)
c.5282G= (p.Gly1761=)
c.5402G= (p.Gly1801=)
c.5330G= (p.Gly1777=)
c.2096G= (p.Gly699=)
c.1958G= (p.Gly653=)
c.4520G= (p.Gly1507=)
c.5285G= (p.Gly1762=)
c.5474G= (p.Gly1825=)
c.5267G= (p.Gly1756=)
c.1970G= (p.Gly657=)
n.1291G=
n.772G=
c.5471G= (p.Gly1824=)
c.1795G=
c.1982G= (p.Gly661=)
c.*5191G= (n.*5191G=)
c.2022G= (p.Gly674=)
c.338G= (p.Gly113=)
c.881G= (p.Gly294=)
c.107G= (p.Gly36=)
n.5544G=
n.5585G=
17g.43047702C>GCA003574BRCA1c.5405G>C (p.Gly1802Ala)
c.5408G>C (p.Gly1803Ala)
c.5282G>C (p.Gly1761Ala)
c.5402G>C (p.Gly1801Ala)
c.5330G>C (p.Gly1777Ala)
c.2096G>C (p.Gly699Ala)
c.1958G>C (p.Gly653Ala)
c.4520G>C (p.Gly1507Ala)
c.5285G>C (p.Gly1762Ala)
c.5474G>C (p.Gly1825Ala)
c.5267G>C (p.Gly1756Ala)
c.1970G>C (p.Gly657Ala)
n.1291G>C
n.772G>C
c.5471G>C (p.Gly1824Ala)
c.1795G>C
c.1982G>C (p.Gly661Ala)
c.*5191G>C (n.*5191G>C)
c.2022G>C (p.Gly674=)
c.338G>C (p.Gly113Ala)
c.881G>C (p.Gly294Ala)
c.107G>C (p.Gly36Ala)
n.5544G>C
n.5585G>C
 ClinVar dbSNP gnomAD v4
17g.43047702C>TCA10590654BRCA1c.5405G>A (p.Gly1802Asp)
c.5408G>A (p.Gly1803Asp)
c.5282G>A (p.Gly1761Asp)
c.5402G>A (p.Gly1801Asp)
c.5330G>A (p.Gly1777Asp)
c.2096G>A (p.Gly699Asp)
c.1958G>A (p.Gly653Asp)
c.4520G>A (p.Gly1507Asp)
c.5285G>A (p.Gly1762Asp)
c.5474G>A (p.Gly1825Asp)
c.5267G>A (p.Gly1756Asp)
c.1970G>A (p.Gly657Asp)
n.1291G>A
n.772G>A
c.5471G>A (p.Gly1824Asp)
c.1795G>A
c.1982G>A (p.Gly661Asp)
c.*5191G>A (n.*5191G>A)
c.2022G>A (p.Gly674=)
c.338G>A (p.Gly113Asp)
c.881G>A (p.Gly294Asp)
c.107G>A (p.Gly36Asp)
n.5544G>A
n.5585G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43047704dupCA2963270283BRCA1c.5405dup
c.5408dup
c.5282dup
c.5402dup
c.5330dup
c.2096dup
c.1958dup
c.4520dup
c.5285dup
c.5474dup
c.5267dup
c.1970dup
n.1291dup
n.772dup
c.5471dup
c.1795dup
c.1982dup
c.*5191dup
c.2022dup
c.338dup
c.881dup
c.107dup
n.5544dup
n.5585dup
17g.43047704delCA2582342183BRCA1c.5405del
c.5408del
c.5282del
c.5402del
c.5330del
c.2096del
c.1958del
c.4520del
c.5285del
c.5474del
c.5267del
c.1970del
n.1291del
n.772del
c.5471del
c.1795del
c.1982del
c.*5191del
c.2022del
c.338del
c.881del
c.107del
n.5544del
n.5585del
 ClinVar gnomAD v4
17g.43047703C>ACA10590655BRCA1c.5404G>T (p.Gly1802Cys)
c.5407G>T (p.Gly1803Cys)
c.5281G>T (p.Gly1761Cys)
c.5401G>T (p.Gly1801Cys)
c.5329G>T (p.Gly1777Cys)
c.2095G>T (p.Gly699Cys)
c.1957G>T (p.Gly653Cys)
c.4519G>T (p.Gly1507Cys)
c.5284G>T (p.Gly1762Cys)
c.5473G>T (p.Gly1825Cys)
c.5266G>T (p.Gly1756Cys)
c.1969G>T (p.Gly657Cys)
n.1290G>T
n.771G>T
c.5470G>T (p.Gly1824Cys)
c.1794G>T
c.1981G>T (p.Gly661Cys)
c.*5190G>T (n.*5190G>T)
c.2021G>T (p.Gly674Val)
c.337G>T (p.Gly113Cys)
c.880G>T (p.Gly294Cys)
c.106G>T (p.Gly36Cys)
n.5543G>T
n.5584G>T
 ClinVar dbSNP gnomAD v4
17g.43047703C=CA2260762037BRCA1c.5404G= (p.Gly1802=)
c.5407G= (p.Gly1803=)
c.5281G= (p.Gly1761=)
c.5401G= (p.Gly1801=)
c.5329G= (p.Gly1777=)
c.2095G= (p.Gly699=)
c.1957G= (p.Gly653=)
c.4519G= (p.Gly1507=)
c.5284G= (p.Gly1762=)
c.5473G= (p.Gly1825=)
c.5266G= (p.Gly1756=)
c.1969G= (p.Gly657=)
n.1290G=
n.771G=
c.5470G= (p.Gly1824=)
c.1794G=
c.1981G= (p.Gly661=)
c.*5190G= (n.*5190G=)
c.2021G= (p.Gly674=)
c.337G= (p.Gly113=)
c.880G= (p.Gly294=)
c.106G= (p.Gly36=)
n.5543G=
n.5584G=
17g.43047703C>GCA10590657BRCA1c.5404G>C (p.Gly1802Arg)
c.5407G>C (p.Gly1803Arg)
c.5281G>C (p.Gly1761Arg)
c.5401G>C (p.Gly1801Arg)
c.5329G>C (p.Gly1777Arg)
c.2095G>C (p.Gly699Arg)
c.1957G>C (p.Gly653Arg)
c.4519G>C (p.Gly1507Arg)
c.5284G>C (p.Gly1762Arg)
c.5473G>C (p.Gly1825Arg)
c.5266G>C (p.Gly1756Arg)
c.1969G>C (p.Gly657Arg)
n.1290G>C
n.771G>C
c.5470G>C (p.Gly1824Arg)
c.1794G>C
c.1981G>C (p.Gly661Arg)
c.*5190G>C (n.*5190G>C)
c.2021G>C (p.Gly674Ala)
c.337G>C (p.Gly113Arg)
c.880G>C (p.Gly294Arg)
c.106G>C (p.Gly36Arg)
n.5543G>C
n.5584G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43047703C>TCA10580482BRCA1c.5404G>A (p.Gly1802Ser)
c.5407G>A (p.Gly1803Ser)
c.5281G>A (p.Gly1761Ser)
c.5401G>A (p.Gly1801Ser)
c.5329G>A (p.Gly1777Ser)
c.2095G>A (p.Gly699Ser)
c.1957G>A (p.Gly653Ser)
c.4519G>A (p.Gly1507Ser)
c.5284G>A (p.Gly1762Ser)
c.5473G>A (p.Gly1825Ser)
c.5266G>A (p.Gly1756Ser)
c.1969G>A (p.Gly657Ser)
n.1290G>A
n.771G>A
c.5470G>A (p.Gly1824Ser)
c.1794G>A
c.1981G>A (p.Gly661Ser)
c.*5190G>A (n.*5190G>A)
c.2021G>A (p.Gly674Glu)
c.337G>A (p.Gly113Ser)
c.880G>A (p.Gly294Ser)
c.106G>A (p.Gly36Ser)
n.5543G>A
n.5584G>A
 ClinVar dbSNP gnomAD v4
17g.43047704C>ACA10590659BRCA1c.5404-1G>T (n.5404-1G>T)
c.5407-1G>T (n.5407-1G>T)
c.5281-1G>T (n.5281-1G>T)
c.5401-1G>T (n.5401-1G>T)
c.5329-1G>T (n.5329-1G>T)
c.2095-1G>T (n.2095-1G>T)
c.1957-1G>T (n.1957-1G>T)
c.4519-1G>T (n.4519-1G>T)
c.5284-1G>T (n.5284-1G>T)
c.5473-1G>T (n.5473-1G>T)
c.5266-1G>T (n.5266-1G>T)
c.1969-1G>T (n.1969-1G>T)
n.1290-1G>T
n.770G>T
c.5470-1G>T (n.5470-1G>T)
c.1794-1G>T
c.1981-1G>T (n.1981-1G>T)
c.*5190-1G>T (n.*5190-1G>T)
c.2021-1G>T (n.2021-1G>T)
c.337-1G>T (n.337-1G>T)
c.880-1G>T (n.880-1G>T)
c.106-1G>T (n.106-1G>T)
n.5543-1G>T
n.5584-1G>T
 ClinVar dbSNP
17g.43047704C=CA2260762038BRCA1c.5404-1G= (n.5404-1G=)
c.5407-1G= (n.5407-1G=)
c.5281-1G= (n.5281-1G=)
c.5401-1G= (n.5401-1G=)
c.5329-1G= (n.5329-1G=)
c.2095-1G= (n.2095-1G=)
c.1957-1G= (n.1957-1G=)
c.4519-1G= (n.4519-1G=)
c.5284-1G= (n.5284-1G=)
c.5473-1G= (n.5473-1G=)
c.5266-1G= (n.5266-1G=)
c.1969-1G= (n.1969-1G=)
n.1290-1G=
n.770G=
c.5470-1G= (n.5470-1G=)
c.1794-1G=
c.1981-1G= (n.1981-1G=)
c.*5190-1G= (n.*5190-1G=)
c.2021-1G= (n.2021-1G=)
c.337-1G= (n.337-1G=)
c.880-1G= (n.880-1G=)
c.106-1G= (n.106-1G=)
n.5543-1G=
n.5584-1G=

Number of alleles fetched