| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045658_43051137del | CA915940399 | BRCA1 | c.5278-20_*20del c.5341-20_*20del n.1665-20_1999del c.1852-20_*20del c.1966-20_*126del c.5137-20_*20del c.208-20_*20del c.751-20_*20del c.-98-947_*20del c.1966-20_*20del n.5414-20_5748del n.5455-20_5789del | |
| 17 | g.43047300_43054953dup | CA16043343 | BRCA1 | c.5277+2100_5467+344dup c.5340+2100_5530+344dup n.1664+2100_1854+344dup c.1851+2100_2041+344dup c.*5060+2100_*5250+344dup c.1965+2100_2081+344dup c.1965+2100_2155+344dup c.5136+2100_5326+344dup c.207+2100_397+344dup c.750+2100_940+344dup c.-98-4762_166+344dup n.5413+2100_5603+344dup n.5454+2100_5644+344dup | |
| 17 | g.43047679_43049196del | CA913203498 | BRCA1 | c.5333_5433del c.5396_5496del n.1720_1820del c.1907_2007del c.*5116_*5216del c.2021-1491_2047del c.2021_2121del c.5192_5292del c.263_363del c.806_906del c.32_132del n.5469_5569del n.5510_5610del | |
| 17 | g.43047695del | CA003581 | BRCA1 | c.5417del (p.Pro1806GlnfsTer28) c.5480del (p.Pro1827GlnfsTer28) n.1804del c.1991del (p.Pro664GlnfsTer28) c.*5200del (p.=) c.2031del (p.Asn678IlefsTer?) c.2105del (p.Pro702GlnfsTer28) c.5276del (p.Pro1759GlnfsTer28) 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.5415C>T (p.His1805=) c.5478C>T (p.His1826=) n.1802C>T c.1989C>T (p.His663=) c.*5198C>T (p.=) c.2029C>T (p.Pro677Ser) c.2103C>T (p.His701=) c.5274C>T (p.His1758=) c.345C>T (p.His115=) c.888C>T (p.His296=) c.114C>T (p.His38=) n.5551C>T n.5592C>T | ClinVar gnomAD |
| 17 | g.43047695G>C | CA10590629 | BRCA1 | c.5415C>G (p.His1805Gln) c.5478C>G (p.His1826Gln) n.1802C>G c.1989C>G (p.His663Gln) c.*5198C>G (p.=) c.2029C>G (p.Pro677Ala) c.2103C>G (p.His701Gln) c.5274C>G (p.His1758Gln) c.345C>G (p.His115Gln) c.888C>G (p.His296Gln) c.114C>G (p.His38Gln) n.5551C>G n.5592C>G | ClinVar |
| 17 | g.43047695G= | CA2260762029 | BRCA1 | c.5415C= (p.His1805=) c.5478C= (p.His1826=) n.1802C= c.1989C= (p.His663=) c.*5198C= (p.=) c.2029C= (p.Pro677=) c.2103C= (p.His701=) c.5274C= (p.His1758=) c.345C= (p.His115=) c.888C= (p.His296=) c.114C= (p.His38=) n.5551C= n.5592C= | |
| 17 | g.43047695G>T | CA10590631 | BRCA1 | c.5415C>A (p.His1805Gln) c.5478C>A (p.His1826Gln) n.1802C>A c.1989C>A (p.His663Gln) c.*5198C>A (p.=) c.2029C>A (p.Pro677Thr) c.2103C>A (p.His701Gln) c.5274C>A (p.His1758Gln) c.345C>A (p.His115Gln) c.888C>A (p.His296Gln) c.114C>A (p.His38Gln) n.5551C>A n.5592C>A | ClinVar |
| 17 | g.43047695_43047703delinsGTGGACACC | CA2260762028 | BRCA1 | c.5407_5415delinsGGTGTCCAC (p.Gly1803=) c.5470_5478delinsGGTGTCCAC (p.Gly1824=) n.1794_1802delinsGGTGTCCAC c.1981_1989delinsGGTGTCCAC (p.Gly661=) c.*5190_*5198delinsGGTGTCCAC (p.=) c.2021_2029delinsGGTGTCCAC (p.Gly674=) c.2095_2103delinsGGTGTCCAC (p.Gly699=) c.5266_5274delinsGGTGTCCAC (p.Gly1756=) 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.5414A>T (p.His1805Leu) c.5477A>T (p.His1826Leu) n.1801A>T c.1988A>T (p.His663Leu) c.*5197A>T (p.=) c.2028A>T (p.Pro676=) c.2102A>T (p.His701Leu) c.5273A>T (p.His1758Leu) c.344A>T (p.His115Leu) c.887A>T (p.His296Leu) c.113A>T (p.His38Leu) n.5550A>T n.5591A>T | ClinVar |
| 17 | g.43047696T>C | CA10590634 | BRCA1 | c.5414A>G (p.His1805Arg) c.5477A>G (p.His1826Arg) n.1801A>G c.1988A>G (p.His663Arg) c.*5197A>G (p.=) c.2028A>G (p.Pro676=) c.2102A>G (p.His701Arg) c.5273A>G (p.His1758Arg) c.344A>G (p.His115Arg) c.887A>G (p.His296Arg) c.113A>G (p.His38Arg) n.5550A>G n.5591A>G | ClinVar |
| 17 | g.43047696T>G | CA003579 | BRCA1 | c.5414A>C (p.His1805Pro) c.5477A>C (p.His1826Pro) n.1801A>C c.1988A>C (p.His663Pro) c.*5197A>C (p.=) c.2028A>C (p.Pro676=) c.2102A>C (p.His701Pro) c.5273A>C (p.His1758Pro) 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.5414A= (p.His1805=) c.5477A= (p.His1826=) n.1801A= c.1988A= (p.His663=) c.*5197A= (p.=) c.2028A= (p.Pro676=) c.2102A= (p.His701=) c.5273A= (p.His1758=) c.344A= (p.His115=) c.887A= (p.His296=) c.113A= (p.His38=) n.5550A= n.5591A= | |
| 17 | g.43047696_43047703del | CA10590059 | BRCA1 | c.5407_5414del (p.Gly1803ProfsTer24) c.5470_5477del (p.Gly1824ProfsTer24) n.1794_1801del c.1981_1988del (p.Gly661ProfsTer24) c.*5190_*5197del (p.=) c.2021_2028del (p.Gly674AlafsTer29) c.2095_2102del (p.Gly699ProfsTer24) c.5266_5273del (p.Gly1756ProfsTer24) 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.5413C>T (p.His1805Tyr) c.5476C>T (p.His1826Tyr) n.1800C>T c.1987C>T (p.His663Tyr) c.*5196C>T (p.=) c.2027C>T (p.Pro676Leu) c.2101C>T (p.His701Tyr) c.5272C>T (p.His1758Tyr) c.343C>T (p.His115Tyr) c.886C>T (p.His296Tyr) c.112C>T (p.His38Tyr) n.5549C>T n.5590C>T | ClinVar dbSNP |
| 17 | g.43047697G>C | CA10590635 | BRCA1 | c.5413C>G (p.His1805Asp) c.5476C>G (p.His1826Asp) n.1800C>G c.1987C>G (p.His663Asp) c.*5196C>G (p.=) c.2027C>G (p.Pro676Arg) c.2101C>G (p.His701Asp) c.5272C>G (p.His1758Asp) c.343C>G (p.His115Asp) c.886C>G (p.His296Asp) c.112C>G (p.His38Asp) n.5549C>G n.5590C>G | ClinVar |
| 17 | g.43047697G= | CA2260762031 | BRCA1 | c.5413C= (p.His1805=) c.5476C= (p.His1826=) n.1800C= c.1987C= (p.His663=) c.*5196C= (p.=) c.2027C= (p.Pro676=) c.2101C= (p.His701=) c.5272C= (p.His1758=) c.343C= (p.His115=) c.886C= (p.His296=) c.112C= (p.His38=) n.5549C= n.5590C= | |
| 17 | g.43047697G>T | CA10590637 | BRCA1 | c.5413C>A (p.His1805Asn) c.5476C>A (p.His1826Asn) n.1800C>A c.1987C>A (p.His663Asn) c.*5196C>A (p.=) c.2027C>A (p.Pro676Gln) c.2101C>A (p.His701Asn) c.5272C>A (p.His1758Asn) c.343C>A (p.His115Asn) c.886C>A (p.His296Asn) c.112C>A (p.His38Asn) n.5549C>A n.5590C>A | ClinVar |
| 17 | g.43047698G>A | CA003577 | BRCA1 | c.5412C>T (p.Val1804=) c.5475C>T (p.Val1825=) n.1799C>T c.1986C>T (p.Val662=) c.*5195C>T (p.=) c.2026C>T (p.Pro676Ser) c.2100C>T (p.Val700=) c.5271C>T (p.Val1757=) 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 |
| 17 | g.43047698G>C | CA10590639 | BRCA1 | c.5412C>G (p.Val1804=) c.5475C>G (p.Val1825=) n.1799C>G c.1986C>G (p.Val662=) c.*5195C>G (p.=) c.2026C>G (p.Pro676Ala) c.2100C>G (p.Val700=) c.5271C>G (p.Val1757=) c.342C>G (p.Val114=) c.885C>G (p.Val295=) c.111C>G (p.Val37=) n.5548C>G n.5589C>G | ClinVar |
| 17 | g.43047698G= | CA2260762032 | BRCA1 | c.5412C= (p.Val1804=) c.5475C= (p.Val1825=) n.1799C= c.1986C= (p.Val662=) c.*5195C= (p.=) c.2026C= (p.Pro676=) c.2100C= (p.Val700=) c.5271C= (p.Val1757=) c.342C= (p.Val114=) c.885C= (p.Val295=) c.111C= (p.Val37=) n.5548C= n.5589C= | |
| 17 | g.43047698G>T | CA10590640 | BRCA1 | c.5412C>A (p.Val1804=) c.5475C>A (p.Val1825=) n.1799C>A c.1986C>A (p.Val662=) c.*5195C>A (p.=) c.2026C>A (p.Pro676Thr) c.2100C>A (p.Val700=) c.5271C>A (p.Val1757=) c.342C>A (p.Val114=) c.885C>A (p.Val295=) c.111C>A (p.Val37=) n.5548C>A n.5589C>A | ClinVar |
| 17 | g.43047699A= | CA2260762033 | BRCA1 | c.5411T= (p.Val1804=) c.5474T= (p.Val1825=) n.1798T= c.1985T= (p.Val662=) c.*5194T= (p.=) c.2025T= (p.Cys675=) c.2099T= (p.Val700=) c.5270T= (p.Val1757=) c.341T= (p.Val114=) c.884T= (p.Val295=) c.110T= (p.Val37=) n.5547T= n.5588T= | |
| 17 | g.43047699A>C | CA10590641 | BRCA1 | c.5411T>G (p.Val1804Gly) c.5474T>G (p.Val1825Gly) n.1798T>G c.1985T>G (p.Val662Gly) c.*5194T>G (p.=) c.2025T>G (p.Cys675Trp) c.2099T>G (p.Val700Gly) c.5270T>G (p.Val1757Gly) c.341T>G (p.Val114Gly) c.884T>G (p.Val295Gly) c.110T>G (p.Val37Gly) n.5547T>G n.5588T>G | ClinVar |
| 17 | g.43047699A>G | CA10590643 | BRCA1 | c.5411T>C (p.Val1804Ala) c.5474T>C (p.Val1825Ala) n.1798T>C c.1985T>C (p.Val662Ala) c.*5194T>C (p.=) c.2025T>C (p.Cys675=) c.2099T>C (p.Val700Ala) c.5270T>C (p.Val1757Ala) c.341T>C (p.Val114Ala) c.884T>C (p.Val295Ala) c.110T>C (p.Val37Ala) n.5547T>C n.5588T>C | ClinVar |
| 17 | g.43047699A>T | CA003575 | BRCA1 | c.5411T>A (p.Val1804Asp) c.5474T>A (p.Val1825Asp) n.1798T>A c.1985T>A (p.Val662Asp) c.*5194T>A (p.=) c.2025T>A (p.Cys675Ter) c.2099T>A (p.Val700Asp) c.5270T>A (p.Val1757Asp) 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 |
| 17 | g.43047701_43047702del | CA658761185 | BRCA1 | c.5410_5411del (p.Val1804ProfsTer25) c.5473_5474del (p.Val1825ProfsTer25) n.1797_1798del c.1984_1985del (p.Val662ProfsTer25) c.*5193_*5194del (p.=) c.2024_2025del (p.Cys675SerfsTer30) c.2098_2099del (p.Val700ProfsTer25) c.5269_5270del (p.Val1757ProfsTer25) 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.5410G>T (p.Val1804Phe) c.5473G>T (p.Val1825Phe) n.1797G>T c.1984G>T (p.Val662Phe) c.*5193G>T (p.=) c.2024G>T (p.Cys675Phe) c.2098G>T (p.Val700Phe) c.5269G>T (p.Val1757Phe) c.340G>T (p.Val114Phe) c.883G>T (p.Val295Phe) c.109G>T (p.Val37Phe) n.5546G>T n.5587G>T | ClinVar |
| 17 | g.43047700C= | CA2260762034 | BRCA1 | c.5410G= (p.Val1804=) c.5473G= (p.Val1825=) n.1797G= c.1984G= (p.Val662=) c.*5193G= (p.=) c.2024G= (p.Cys675=) c.2098G= (p.Val700=) c.5269G= (p.Val1757=) c.340G= (p.Val114=) c.883G= (p.Val295=) c.109G= (p.Val37=) n.5546G= n.5587G= | |
| 17 | g.43047700C>G | CA10590646 | BRCA1 | c.5410G>C (p.Val1804Leu) c.5473G>C (p.Val1825Leu) n.1797G>C c.1984G>C (p.Val662Leu) c.*5193G>C (p.=) c.2024G>C (p.Cys675Ser) c.2098G>C (p.Val700Leu) c.5269G>C (p.Val1757Leu) c.340G>C (p.Val114Leu) c.883G>C (p.Val295Leu) c.109G>C (p.Val37Leu) n.5546G>C n.5587G>C | ClinVar |
| 17 | g.43047700C>T | CA10590648 | BRCA1 | c.5410G>A (p.Val1804Ile) c.5473G>A (p.Val1825Ile) n.1797G>A c.1984G>A (p.Val662Ile) c.*5193G>A (p.=) c.2024G>A (p.Cys675Tyr) c.2098G>A (p.Val700Ile) c.5269G>A (p.Val1757Ile) c.340G>A (p.Val114Ile) c.883G>A (p.Val295Ile) c.109G>A (p.Val37Ile) n.5546G>A n.5587G>A | ClinVar |
| 17 | g.43047701A= | CA2260762035 | BRCA1 | c.5409T= (p.Gly1803=) c.5472T= (p.Gly1824=) n.1796T= c.1983T= (p.Gly661=) c.*5192T= (p.=) c.2023T= (p.Cys675=) c.2097T= (p.Gly699=) c.5268T= (p.Gly1756=) c.339T= (p.Gly113=) c.882T= (p.Gly294=) c.108T= (p.Gly36=) n.5545T= n.5586T= | |
| 17 | g.43047701A>C | CA10590650 | BRCA1 | c.5409T>G (p.Gly1803=) c.5472T>G (p.Gly1824=) n.1796T>G c.1983T>G (p.Gly661=) c.*5192T>G (p.=) c.2023T>G (p.Cys675Gly) c.2097T>G (p.Gly699=) c.5268T>G (p.Gly1756=) c.339T>G (p.Gly113=) c.882T>G (p.Gly294=) c.108T>G (p.Gly36=) n.5545T>G n.5586T>G | ClinVar |
| 17 | g.43047701A>G | CA10590651 | BRCA1 | c.5409T>C (p.Gly1803=) c.5472T>C (p.Gly1824=) n.1796T>C c.1983T>C (p.Gly661=) c.*5192T>C (p.=) c.2023T>C (p.Cys675Arg) c.2097T>C (p.Gly699=) c.5268T>C (p.Gly1756=) c.339T>C (p.Gly113=) c.882T>C (p.Gly294=) c.108T>C (p.Gly36=) n.5545T>C n.5586T>C | ClinVar |
| 17 | g.43047701A>T | CA10590652 | BRCA1 | c.5409T>A (p.Gly1803=) c.5472T>A (p.Gly1824=) n.1796T>A c.1983T>A (p.Gly661=) c.*5192T>A (p.=) c.2023T>A (p.Cys675Ser) c.2097T>A (p.Gly699=) c.5268T>A (p.Gly1756=) c.339T>A (p.Gly113=) c.882T>A (p.Gly294=) c.108T>A (p.Gly36=) n.5545T>A n.5586T>A | ClinVar |
| 17 | g.43047702C>A | CA10590653 | BRCA1 | c.5408G>T (p.Gly1803Val) c.5471G>T (p.Gly1824Val) n.1795G>T c.1982G>T (p.Gly661Val) c.*5191G>T (p.=) c.2022G>T (p.Gly674=) c.2096G>T (p.Gly699Val) c.5267G>T (p.Gly1756Val) c.338G>T (p.Gly113Val) c.881G>T (p.Gly294Val) c.107G>T (p.Gly36Val) n.5544G>T n.5585G>T | ClinVar |
| 17 | g.43047702C= | CA2260762036 | BRCA1 | c.5408G= (p.Gly1803=) c.5471G= (p.Gly1824=) n.1795G= c.1982G= (p.Gly661=) c.*5191G= (p.=) c.2022G= (p.Gly674=) c.2096G= (p.Gly699=) c.5267G= (p.Gly1756=) c.338G= (p.Gly113=) c.881G= (p.Gly294=) c.107G= (p.Gly36=) n.5544G= n.5585G= | |
| 17 | g.43047702C>G | CA003574 | BRCA1 | c.5408G>C (p.Gly1803Ala) c.5471G>C (p.Gly1824Ala) n.1795G>C c.1982G>C (p.Gly661Ala) c.*5191G>C (p.=) c.2022G>C (p.Gly674=) c.2096G>C (p.Gly699Ala) c.5267G>C (p.Gly1756Ala) c.338G>C (p.Gly113Ala) c.881G>C (p.Gly294Ala) c.107G>C (p.Gly36Ala) n.5544G>C n.5585G>C | ClinVar dbSNP |
| 17 | g.43047702C>T | CA10590654 | BRCA1 | c.5408G>A (p.Gly1803Asp) c.5471G>A (p.Gly1824Asp) n.1795G>A c.1982G>A (p.Gly661Asp) c.*5191G>A (p.=) c.2022G>A (p.Gly674=) c.2096G>A (p.Gly699Asp) c.5267G>A (p.Gly1756Asp) c.338G>A (p.Gly113Asp) c.881G>A (p.Gly294Asp) c.107G>A (p.Gly36Asp) n.5544G>A n.5585G>A | ClinVar |
| 17 | g.43047703C>A | CA10590655 | BRCA1 | c.5407G>T (p.Gly1803Cys) c.5470G>T (p.Gly1824Cys) n.1794G>T c.1981G>T (p.Gly661Cys) c.*5190G>T (p.=) c.2021G>T (p.Gly674Val) c.2095G>T (p.Gly699Cys) c.5266G>T (p.Gly1756Cys) c.337G>T (p.Gly113Cys) c.880G>T (p.Gly294Cys) c.106G>T (p.Gly36Cys) n.5543G>T n.5584G>T | ClinVar dbSNP |
| 17 | g.43047703C= | CA2260762037 | BRCA1 | c.5407G= (p.Gly1803=) c.5470G= (p.Gly1824=) n.1794G= c.1981G= (p.Gly661=) c.*5190G= (p.=) c.2021G= (p.Gly674=) c.2095G= (p.Gly699=) c.5266G= (p.Gly1756=) c.337G= (p.Gly113=) c.880G= (p.Gly294=) c.106G= (p.Gly36=) n.5543G= n.5584G= | |
| 17 | g.43047703C>G | CA10590657 | BRCA1 | c.5407G>C (p.Gly1803Arg) c.5470G>C (p.Gly1824Arg) n.1794G>C c.1981G>C (p.Gly661Arg) c.*5190G>C (p.=) c.2021G>C (p.Gly674Ala) c.2095G>C (p.Gly699Arg) c.5266G>C (p.Gly1756Arg) c.337G>C (p.Gly113Arg) c.880G>C (p.Gly294Arg) c.106G>C (p.Gly36Arg) n.5543G>C n.5584G>C | ClinVar dbSNP |
| 17 | g.43047703C>T | CA10580482 | BRCA1 | c.5407G>A (p.Gly1803Ser) c.5470G>A (p.Gly1824Ser) n.1794G>A c.1981G>A (p.Gly661Ser) c.*5190G>A (p.=) c.2021G>A (p.Gly674Glu) c.2095G>A (p.Gly699Ser) c.5266G>A (p.Gly1756Ser) c.337G>A (p.Gly113Ser) c.880G>A (p.Gly294Ser) c.106G>A (p.Gly36Ser) n.5543G>A n.5584G>A | ClinVar dbSNP |
| 17 | g.43047704C>A | CA10590659 | BRCA1 | c.5407-1G>T (p.=) c.5470-1G>T (p.=) n.1794-1G>T c.1981-1G>T (p.=) c.*5190-1G>T (p.=) c.2021-1G>T (p.=) c.2095-1G>T (p.=) c.5266-1G>T (p.=) c.337-1G>T (p.=) c.880-1G>T (p.=) c.106-1G>T (p.=) n.5543-1G>T n.5584-1G>T | ClinVar |
| 17 | g.43047704C= | CA2260762038 | BRCA1 | c.5407-1G= (p.=) c.5470-1G= (p.=) n.1794-1G= c.1981-1G= (p.=) c.*5190-1G= (p.=) c.2021-1G= (p.=) c.2095-1G= (p.=) c.5266-1G= (p.=) c.337-1G= (p.=) c.880-1G= (p.=) c.106-1G= (p.=) n.5543-1G= n.5584-1G= | |
| 17 | g.43047704C>G | CA003570 | BRCA1 | c.5407-1G>C (p.=) c.5470-1G>C (p.=) n.1794-1G>C c.1981-1G>C (p.=) c.*5190-1G>C (p.=) c.2021-1G>C (p.=) c.2095-1G>C (p.=) c.5266-1G>C (p.=) c.337-1G>C (p.=) c.880-1G>C (p.=) c.106-1G>C (p.=) n.5543-1G>C n.5584-1G>C | ClinVar dbSNP |
| 17 | g.43047704C>T | CA003569 | BRCA1 | c.5407-1G>A (p.=) c.5470-1G>A (p.=) n.1794-1G>A c.1981-1G>A (p.=) c.*5190-1G>A (p.=) c.2021-1G>A (p.=) c.2095-1G>A (p.=) c.5266-1G>A (p.=) c.337-1G>A (p.=) c.880-1G>A (p.=) c.106-1G>A (p.=) n.5543-1G>A n.5584-1G>A | ClinVar dbSNP |
| 17 | g.43047705T>A | CA003573 | BRCA1 | c.5407-2A>T (p.=) c.5470-2A>T (p.=) n.1794-2A>T c.1981-2A>T (p.=) c.*5190-2A>T (p.=) c.2021-2A>T (p.=) c.2095-2A>T (p.=) c.5266-2A>T (p.=) c.337-2A>T (p.=) c.880-2A>T (p.=) c.106-2A>T (p.=) n.5543-2A>T n.5584-2A>T | ClinVar dbSNP |
| 17 | g.43047705T>C | CA003572 | BRCA1 | c.5407-2A>G (p.=) c.5470-2A>G (p.=) n.1794-2A>G c.1981-2A>G (p.=) c.*5190-2A>G (p.=) c.2021-2A>G (p.=) c.2095-2A>G (p.=) c.5266-2A>G (p.=) c.337-2A>G (p.=) c.880-2A>G (p.=) c.106-2A>G (p.=) n.5543-2A>G n.5584-2A>G | ClinVar dbSNP |
| 17 | g.43047705T>G | CA10590660 | BRCA1 | c.5407-2A>C (p.=) c.5470-2A>C (p.=) n.1794-2A>C c.1981-2A>C (p.=) c.*5190-2A>C (p.=) c.2021-2A>C (p.=) c.2095-2A>C (p.=) c.5266-2A>C (p.=) c.337-2A>C (p.=) c.880-2A>C (p.=) c.106-2A>C (p.=) n.5543-2A>C n.5584-2A>C | ClinVar |