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.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 |
13 | g.32340384T= | CA2082809305 | BRCA2 | c.6029T= (p.Val2010=) c.5660T= (p.Val1887=) n.6029T= | |
13 | g.32340384_32340385insA | CA2695217815 | BRCA2 | c.6029_6030insA (p.Phe2011LeufsTer7) c.5660_5661insA (p.Phe1888LeufsTer7) n.6029_6030insA | |
13 | g.32340385C>A | CA10579675 | BRCA2 | c.6030C>A (p.Val2010=) c.5661C>A (p.Val1887=) n.6030C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32340385C= | CA2082809323 | BRCA2 | c.6030C= (p.Val2010=) c.5661C= (p.Val1887=) n.6030C= | |
13 | g.32340385C>G | CA483438983 | BRCA2 | c.6030C>G (p.Val2010=) c.5661C>G (p.Val1887=) n.6030C>G | ClinVar dbSNP |
13 | g.32340385C>T | CA023550 | BRCA2 | c.6030C>T (p.Val2010=) c.5661C>T (p.Val1887=) n.6030C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340385_32340387delinsCTT | CA2082809316 | BRCA2 | c.6030_6032delinsCTT (p.Val2010=) c.5661_5663delinsCTT (p.Val1887=) n.6030_6032delinsCTT | |
13 | g.32340386T>A | CA387787784 | BRCA2 | c.6031T>A (p.Phe2011Ile) c.5662T>A (p.Phe1888Ile) n.6031T>A | dbSNP |
13 | g.32340386T>C | CA387787786 | BRCA2 | c.6031T>C (p.Phe2011Leu) c.5662T>C (p.Phe1888Leu) n.6031T>C | dbSNP |
13 | g.32340386T>G | CA387787787 | BRCA2 | c.6031T>G (p.Phe2011Val) c.5662T>G (p.Phe1888Val) n.6031T>G | |
13 | g.32340386T= | CA2082809340 | BRCA2 | c.6031T= (p.Phe2011=) c.5662T= (p.Phe1888=) n.6031T= | |
13 | g.32340389dup | CA645509064 | BRCA2 | c.6034dup (p.Ser2012PhefsTer6) c.5665dup (p.Ser1889PhefsTer6) n.6034dup | ClinVar dbSNP gnomAD v4 |
13 | g.32340389del | CA645294073 | BRCA2 | c.6034del (p.Ser2012ProfsTer28) c.5665del (p.Ser1889ProfsTer28) n.6034del | ClinVar dbSNP gnomAD v4 |