Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43045678_43047703del | CA2581463416 | BRCA1 | c.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 | |
17 | g.43047641_43047778del | CA2499224348 | BRCA1 | c.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 |
17 | g.43047642_43047778del | CA3060571190 | BRCA1 | c.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 |
17 | g.43047695del | CA003581 | BRCA1 | c.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 |
17 | g.43047695G>A | CA10590628 | BRCA1 | c.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 |
17 | g.43047695G>C | CA10590629 | BRCA1 | c.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 |
17 | g.43047695G= | CA2260762029 | BRCA1 | c.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= | |
17 | g.43047695G>T | CA10590631 | BRCA1 | c.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 |
17 | g.43047696_43047697del | CA3063902865 | BRCA1 | c.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 | |
17 | g.43047695_43047703delinsGTGGACACC | CA2260762028 | BRCA1 | c.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 | |
17 | g.43047696T>A | CA10590633 | BRCA1 | c.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 |
17 | g.43047696T>C | CA10590634 | BRCA1 | c.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 |
17 | g.43047696T>G | CA003579 | BRCA1 | c.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 |
17 | g.43047696T= | CA2260762030 | BRCA1 | c.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= | |
17 | g.43047696_43047703del | CA10590059 | BRCA1 | c.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 |
17 | g.43047697G>A | CA003578 | BRCA1 | c.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 |
17 | g.43047697G>C | CA10590635 | BRCA1 | c.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 |
17 | g.43047697G= | CA2260762031 | BRCA1 | c.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= | |
17 | g.43047697G>T | CA10590637 | BRCA1 | c.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 |
17 | g.43047698G>A | CA003577 | BRCA1 | c.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 |
17 | g.43047698G>C | CA10590639 | BRCA1 | c.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 |
17 | g.43047698G= | CA2260762032 | BRCA1 | c.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= | |
17 | g.43047698G>T | CA10590640 | BRCA1 | c.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 |
17 | g.43047699A= | CA2260762033 | BRCA1 | c.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= | |
17 | g.43047699A>C | CA10590641 | BRCA1 | c.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 |
17 | g.43047699A>G | CA10590643 | BRCA1 | c.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 |
17 | g.43047699A>T | CA003575 | BRCA1 | c.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 |
17 | g.43047701_43047702del | CA658761185 | BRCA1 | c.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 | |
17 | g.43047700C>A | CA10590644 | BRCA1 | c.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 |
17 | g.43047700C= | CA2260762034 | BRCA1 | c.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= | |
17 | g.43047700C>G | CA10590646 | BRCA1 | c.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 |
17 | g.43047700C>T | CA10590648 | BRCA1 | c.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 |
17 | g.43047700dup | CA2850446915 | BRCA1 | c.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 | |
17 | g.43047701A= | CA2260762035 | BRCA1 | c.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= | |
17 | g.43047701A>C | CA10590650 | BRCA1 | c.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 |
17 | g.43047701A>G | CA10590651 | BRCA1 | c.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 |
17 | g.43047701A>T | CA10590652 | BRCA1 | c.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 |
17 | g.43047702_43047708del | CA2499224349 | BRCA1 | c.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 | |
17 | g.43047702C>A | CA10590653 | BRCA1 | c.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 |
17 | g.43047702C= | CA2260762036 | BRCA1 | c.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= | |
17 | g.43047702C>G | CA003574 | BRCA1 | c.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 |
17 | g.43047702C>T | CA10590654 | BRCA1 | c.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 |
17 | g.43047704dup | CA2963270283 | BRCA1 | c.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 | |
17 | g.43047704del | CA2582342183 | BRCA1 | c.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 |
17 | g.43047703C>A | CA10590655 | BRCA1 | c.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 |
17 | g.43047703C= | CA2260762037 | BRCA1 | c.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= | |
17 | g.43047703C>G | CA10590657 | BRCA1 | c.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 |
17 | g.43047703C>T | CA10580482 | BRCA1 | c.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 |
17 | g.43047704C>A | CA10590659 | BRCA1 | c.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 |
17 | g.43047704C= | CA2260762038 | BRCA1 | c.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= |