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.32340366_32340372del | CA023508 | BRCA2 | c.6011_6017del (p.Glu2004ValfsTer?) c.5642_5648del (p.Glu1881ValfsTer?) n.6011_6017del | ClinVar dbSNP |
13 | g.32340365_32340370delinsGAAGAT | CA2082809156 | BRCA2 | c.6010_6015delinsGAAGAT (p.Glu2004=) c.5641_5646delinsGAAGAT (p.Glu1881=) n.6010_6015delinsGAAGAT | |
13 | g.32340366_32340370delinsAAGAT | CA2082809168 | BRCA2 | c.6011_6015delinsAAGAT (p.Glu2004=) c.5642_5646delinsAAGAT (p.Glu1881=) n.6011_6015delinsAAGAT | |
13 | g.32340367_32340371del | CA10589345 | BRCA2 | c.6012_6016del (p.Asp2005TyrfsTer11) c.5643_5647del (p.Asp1882TyrfsTer11) n.6012_6016del | ClinVar dbSNP |
13 | g.32340369_32340372del | CA16043339 | BRCA2 | c.6014_6017del (p.Asp2005ValfsTer?) c.5645_5648del (p.Asp1882ValfsTer?) n.6014_6017del | ClinVar dbSNP |
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.32340370T>A | CA387787722 | BRCA2 | c.6015T>A (p.Asp2005Glu) c.5646T>A (p.Asp1882Glu) n.6015T>A | ClinVar dbSNP |
13 | g.32340370T>C | CA483438966 | BRCA2 | c.6015T>C (p.Asp2005=) c.5646T>C (p.Asp1882=) n.6015T>C | dbSNP |
13 | g.32340370T>G | CA387787723 | BRCA2 | c.6015T>G (p.Asp2005Glu) c.5646T>G (p.Asp1882Glu) n.6015T>G | dbSNP |
13 | g.32340370_32340374delinsTAGTA | CA2082809213 | BRCA2 | c.6015_6019delinsTAGTA (p.Asp2005=) c.5646_5650delinsTAGTA (p.Asp1882=) n.6015_6019delinsTAGTA | |
13 | g.32340371A= | CA2082809224 | BRCA2 | c.6016A= (p.Ser2006=) c.5647A= (p.Ser1883=) n.6016A= | |
13 | g.32340371A>C | CA387787725 | BRCA2 | c.6016A>C (p.Ser2006Arg) c.5647A>C (p.Ser1883Arg) n.6016A>C | |
13 | g.32340371A>G | CA387787727 | BRCA2 | c.6016A>G (p.Ser2006Gly) c.5647A>G (p.Ser1883Gly) n.6016A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340371A>T | CA387787729 | BRCA2 | c.6016A>T (p.Ser2006Cys) c.5647A>T (p.Ser1883Cys) n.6016A>T | dbSNP |
13 | g.32340371_32340374del | CA10589346 | BRCA2 | c.6016_6019del (p.Ser2006ProfsTer?) c.5647_5650del (p.Ser1883ProfsTer?) n.6016_6019del | ClinVar dbSNP |
13 | g.32340372del | CA2580087784 | BRCA2 | c.6017del (p.Ser2006IlefsTer?) c.5648del (p.Ser1883IlefsTer?) n.6017del | ClinVar |
13 | g.32340372G>A | CA387787732 | BRCA2 | c.6017G>A (p.Ser2006Asn) c.5648G>A (p.Ser1883Asn) n.6017G>A | dbSNP |
13 | g.32340372G>C | CA023520 | BRCA2 | c.6017G>C (p.Ser2006Thr) c.5648G>C (p.Ser1883Thr) n.6017G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340372G= | CA2082809227 | BRCA2 | c.6017G= (p.Ser2006=) c.5648G= (p.Ser1883=) n.6017G= | |
13 | g.32340372G>T | CA387787734 | BRCA2 | c.6017G>T (p.Ser2006Ile) c.5648G>T (p.Ser1883Ile) n.6017G>T | |
13 | g.32340373T>A | CA023523 | BRCA2 | c.6018T>A (p.Ser2006Arg) c.5649T>A (p.Ser1883Arg) n.6018T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340373T>C | CA483438967 | BRCA2 | c.6018T>C (p.Ser2006=) c.5649T>C (p.Ser1883=) n.6018T>C | ClinVar dbSNP |
13 | g.32340373T>G | CA387787738 | BRCA2 | c.6018T>G (p.Ser2006Arg) c.5649T>G (p.Ser1883Arg) n.6018T>G | ClinVar dbSNP |
13 | g.32340373T= | CA2082809238 | BRCA2 | c.6018T= (p.Ser2006=) c.5649T= (p.Ser1883=) n.6018T= | |
13 | g.32340373dup | CA919242624 | BRCA2 | c.6018dup (p.Thr2007TyrfsTer11) c.5649dup (p.Thr1884TyrfsTer11) n.6018dup | 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= |