Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340391_32340392insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | CA2580087783 | BRCA2 | c.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys2013Ter) c.5667_5668insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC (p.Lys1890Ter) n.6036_6037insTAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCC | ClinVar |
13 | g.32340370_32340414dup | CA2573149399 | BRCA2 | c.6015_6059dup (p.Asn2019_Glu2020insAspSerThrLysGlnValPheSerLysValLeuPheLysSerAsn) c.5646_5690dup (p.Asn1896_Glu1897insAspSerThrLysGlnValPheSerLysValLeuPheLysSerAsn) n.6015_6059dup | ClinVar dbSNP |
13 | g.32340370_32340374delinsTAGTA | CA2082809213 | BRCA2 | c.6015_6019delinsTAGTA (p.Asp2005=) c.5646_5650delinsTAGTA (p.Asp1882=) n.6015_6019delinsTAGTA | |
13 | g.32340371_32340374del | CA10589346 | BRCA2 | c.6016_6019del (p.Ser2006ProfsTer?) c.5647_5650del (p.Ser1883ProfsTer?) n.6016_6019del | ClinVar dbSNP |
13 | g.32340373_32340374dup | CA023526 | BRCA2 | c.6018_6019dup (p.Thr2007IlefsTer?) c.5649_5650dup (p.Thr1884IlefsTer?) n.6018_6019dup | ClinVar dbSNP |
13 | g.32340374A>C | CA387787740 | BRCA2 | c.6019A>C (p.Thr2007Pro) c.5650A>C (p.Thr1884Pro) n.6019A>C | |
13 | g.32340374A>G | CA387787742 | BRCA2 | c.6019A>G (p.Thr2007Ala) c.5650A>G (p.Thr1884Ala) n.6019A>G | ClinVar |
13 | g.32340374A>T | CA387787744 | BRCA2 | c.6019A>T (p.Thr2007Ser) c.5650A>T (p.Thr1884Ser) n.6019A>T | |
13 | g.32340375C>A | CA023530 | BRCA2 | c.6020C>A (p.Thr2007Asn) c.5651C>A (p.Thr1884Asn) n.6020C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340375C= | CA2082809252 | BRCA2 | c.6020C= (p.Thr2007=) c.5651C= (p.Thr1884=) n.6020C= | |
13 | g.32340375C>G | CA387787747 | BRCA2 | c.6020C>G (p.Thr2007Ser) c.5651C>G (p.Thr1884Ser) n.6020C>G | ClinVar dbSNP |
13 | g.32340375C>T | CA387787749 | BRCA2 | c.6020C>T (p.Thr2007Ile) c.5651C>T (p.Thr1884Ile) n.6020C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340376C>A | CA483438971 | BRCA2 | c.6021C>A (p.Thr2007=) c.5652C>A (p.Thr1884=) n.6021C>A | dbSNP |
13 | g.32340376C>G | CA483438972 | BRCA2 | c.6021C>G (p.Thr2007=) c.5652C>G (p.Thr1884=) n.6021C>G | ClinVar dbSNP |
13 | g.32340376C>T | CA483438973 | BRCA2 | c.6021C>T (p.Thr2007=) c.5652C>T (p.Thr1884=) n.6021C>T | dbSNP |
13 | g.32340377A= | CA2082809255 | BRCA2 | c.6022A= (p.Lys2008=) c.5653A= (p.Lys1885=) n.6022A= | |
13 | g.32340377A>C | CA387787751 | BRCA2 | c.6022A>C (p.Lys2008Gln) c.5653A>C (p.Lys1885Gln) n.6022A>C | |
13 | g.32340377A>G | CA387787753 | BRCA2 | c.6022A>G (p.Lys2008Glu) c.5653A>G (p.Lys1885Glu) n.6022A>G | gnomAD v4 |
13 | g.32340377A>T | CA335857 | BRCA2 | c.6022A>T (p.Lys2008Ter) c.5653A>T (p.Lys1885Ter) n.6022A>T | ClinVar dbSNP |
13 | g.32340378A= | CA2082809261 | BRCA2 | c.6023A= (p.Lys2008=) c.5654A= (p.Lys1885=) n.6023A= | |
13 | g.32340378A>C | CA387787758 | BRCA2 | c.6023A>C (p.Lys2008Thr) c.5654A>C (p.Lys1885Thr) n.6023A>C | |
13 | g.32340378A>G | CA387787759 | BRCA2 | c.6023A>G (p.Lys2008Arg) c.5654A>G (p.Lys1885Arg) n.6023A>G | dbSNP |
13 | g.32340378A>T | CA387787756 | BRCA2 | c.6023A>T (p.Lys2008Met) c.5654A>T (p.Lys1885Met) n.6023A>T | dbSNP |
13 | g.32340378_32340379insTGCTGTTGCTGGTATTAGTTCAATGTTGAATTAT | CA2798719953 | BRCA2 | c.6023_6024insTGCTGTTGCTGGTATTAGTTCAATGTTGAATTAT (p.Lys2008AsnfsTer21) c.5654_5655insTGCTGTTGCTGGTATTAGTTCAATGTTGAATTAT (p.Lys1885AsnfsTer21) n.6023_6024insTGCTGTTGCTGGTATTAGTTCAATGTTGAATTAT | |
13 | g.32340379G>A | CA483438979 | BRCA2 | c.6024G>A (p.Lys2008=) c.5655G>A (p.Lys1885=) n.6024G>A | ClinVar dbSNP |
13 | g.32340379G>C | CA023537 | BRCA2 | c.6024G>C (p.Lys2008Asn) c.5655G>C (p.Lys1885Asn) n.6024G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340379G= | CA2082809271 | BRCA2 | c.6024G= (p.Lys2008=) c.5655G= (p.Lys1885=) n.6024G= | |
13 | g.32340379G>T | CA387787762 | BRCA2 | c.6024G>T (p.Lys2008Asn) c.5655G>T (p.Lys1885Asn) n.6024G>T | ClinVar |
13 | g.32340379dup | CA023532 | BRCA2 | c.6024dup (p.Gln2009AlafsTer9) c.5655dup (p.Gln1886AlafsTer9) n.6024dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340379_32340380del | CA1139770780 | BRCA2 | c.6024_6025del (p.Gln2009SerfsTer8) c.5655_5656del (p.Gln1886SerfsTer8) n.6024_6025del | |
13 | g.32340380C>A | CA387787763 | BRCA2 | c.6025C>A (p.Gln2009Lys) c.5656C>A (p.Gln1886Lys) n.6025C>A | dbSNP |
13 | g.32340380C= | CA2082809275 | BRCA2 | c.6025C= (p.Gln2009=) c.5656C= (p.Gln1886=) n.6025C= | |
13 | g.32340380C>G | CA387787765 | BRCA2 | c.6025C>G (p.Gln2009Glu) c.5656C>G (p.Gln1886Glu) n.6025C>G | dbSNP |
13 | g.32340380C>T | CA023540 | BRCA2 | c.6025C>T (p.Gln2009Ter) c.5656C>T (p.Gln1886Ter) n.6025C>T | ClinVar dbSNP |
13 | g.32340381A= | CA2082809279 | BRCA2 | c.6026A= (p.Gln2009=) c.5657A= (p.Gln1886=) n.6026A= | |
13 | g.32340381A>C | CA387787771 | BRCA2 | c.6026A>C (p.Gln2009Pro) c.5657A>C (p.Gln1886Pro) n.6026A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340381A>G | CA387787768 | BRCA2 | c.6026A>G (p.Gln2009Arg) c.5657A>G (p.Gln1886Arg) n.6026A>G | ClinVar dbSNP |
13 | g.32340381A>T | CA387787770 | BRCA2 | c.6026A>T (p.Gln2009Leu) c.5657A>T (p.Gln1886Leu) n.6026A>T | dbSNP |
13 | g.32340382A= | CA2082809290 | BRCA2 | c.6027A= (p.Gln2009=) c.5658A= (p.Gln1886=) n.6027A= | |
13 | g.32340382A>C | CA387787773 | BRCA2 | c.6027A>C (p.Gln2009His) c.5658A>C (p.Gln1886His) n.6027A>C | ClinVar dbSNP |
13 | g.32340382A>G | CA483438981 | BRCA2 | c.6027A>G (p.Gln2009=) c.5658A>G (p.Gln1886=) n.6027A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340382A>T | CA387787774 | BRCA2 | c.6027A>T (p.Gln2009His) c.5658A>T (p.Gln1886His) n.6027A>T | dbSNP |
13 | g.32340383G>A | CA387787775 | BRCA2 | c.6028G>A (p.Val2010Ile) c.5659G>A (p.Val1887Ile) n.6028G>A | ClinVar dbSNP |
13 | g.32340383G>C | CA387787777 | BRCA2 | c.6028G>C (p.Val2010Leu) c.5659G>C (p.Val1887Leu) n.6028G>C | dbSNP |
13 | g.32340383G= | CA2082809298 | BRCA2 | c.6028G= (p.Val2010=) c.5659G= (p.Val1887=) n.6028G= | |
13 | g.32340383G>T | CA387787779 | BRCA2 | c.6028G>T (p.Val2010Phe) c.5659G>T (p.Val1887Phe) n.6028G>T | dbSNP |
13 | g.32340384T>A | CA387787780 | BRCA2 | c.6029T>A (p.Val2010Asp) c.5660T>A (p.Val1887Asp) n.6029T>A | dbSNP gnomAD v4 |
13 | g.32340384T>C | CA387787781 | BRCA2 | c.6029T>C (p.Val2010Ala) c.5660T>C (p.Val1887Ala) n.6029T>C | |
13 | g.32340384T>G | CA023542 | BRCA2 | c.6029T>G (p.Val2010Gly) c.5660T>G (p.Val1887Gly) n.6029T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |