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.32340362del | CA915948504 | BRCA2 | c.6007del (p.Ile2003Ter) c.5638del (p.Ile1880Ter) n.6007del | ClinVar dbSNP |
13 | g.32340361_32340368delinsAATAGAAG | CA2082809099 | BRCA2 | c.6006_6013delinsAATAGAAG (p.Glu2002=) c.5637_5644delinsAATAGAAG (p.Glu1879=) n.6006_6013delinsAATAGAAG | |
13 | g.32340362A= | CA2082809115 | BRCA2 | c.6007A= (p.Ile2003=) c.5638A= (p.Ile1880=) n.6007A= | |
13 | g.32340362A>C | CA387787692 | BRCA2 | c.6007A>C (p.Ile2003Leu) c.5638A>C (p.Ile1880Leu) n.6007A>C | |
13 | g.32340362A>G | CA387787691 | BRCA2 | c.6007A>G (p.Ile2003Val) c.5638A>G (p.Ile1880Val) n.6007A>G | ClinVar dbSNP |
13 | g.32340362A>T | CA387787690 | BRCA2 | c.6007A>T (p.Ile2003Leu) c.5638A>T (p.Ile1880Leu) n.6007A>T | |
13 | g.32340362_32340363delinsAT | CA2082809113 | BRCA2 | c.6007_6008delinsAT (p.Ile2003=) c.5638_5639delinsAT (p.Ile1880=) n.6007_6008delinsAT | |
13 | g.32340366_32340372del | CA023508 | BRCA2 | c.6011_6017del (p.Glu2004ValfsTer?) c.5642_5648del (p.Glu1881ValfsTer?) n.6011_6017del | ClinVar dbSNP |
13 | g.32340363del | CA10586549 | BRCA2 | c.6008del (p.Ile2003LysfsTer?) c.5639del (p.Ile1880LysfsTer?) n.6008del | ClinVar dbSNP |
13 | g.32340363T>A | CA387787693 | BRCA2 | c.6008T>A (p.Ile2003Lys) c.5639T>A (p.Ile1880Lys) n.6008T>A | dbSNP |
13 | g.32340363T>C | CA023504 | BRCA2 | c.6008T>C (p.Ile2003Thr) c.5639T>C (p.Ile1880Thr) n.6008T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340363T>G | CA387787694 | BRCA2 | c.6008T>G (p.Ile2003Arg) c.5639T>G (p.Ile1880Arg) n.6008T>G | ClinVar dbSNP |
13 | g.32340363T= | CA2082809127 | BRCA2 | c.6008T= (p.Ile2003=) c.5639T= (p.Ile1880=) n.6008T= | |
13 | g.32340363_32340368delinsTAGAAG | CA2082809128 | BRCA2 | c.6008_6013delinsTAGAAG (p.Ile2003=) c.5639_5644delinsTAGAAG (p.Ile1880=) n.6008_6013delinsTAGAAG | |
13 | g.32340364A= | CA2082809145 | BRCA2 | c.6009A= (p.Ile2003=) c.5640A= (p.Ile1880=) n.6009A= | |
13 | g.32340364A>C | CA483438964 | BRCA2 | c.6009A>C (p.Ile2003=) c.5640A>C (p.Ile1880=) n.6009A>C | |
13 | g.32340364A>G | CA387787695 | BRCA2 | c.6009A>G (p.Ile2003Met) c.5640A>G (p.Ile1880Met) n.6009A>G | |
13 | g.32340364A>T | CA483438965 | BRCA2 | c.6009A>T (p.Ile2003=) c.5640A>T (p.Ile1880=) n.6009A>T | ClinVar dbSNP |
13 | g.32340367_32340369del | CA6940924 | BRCA2 | c.6012_6014del (p.Glu2004del) c.5643_5645del (p.Glu1881del) n.6012_6014del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340365_32340369del | CA10589344 | BRCA2 | c.6010_6014del (p.Glu2004Ter) c.5641_5645del (p.Glu1881Ter) n.6010_6014del | ClinVar dbSNP |
13 | g.32340365G>A | CA387787701 | BRCA2 | c.6010G>A (p.Glu2004Lys) c.5641G>A (p.Glu1881Lys) n.6010G>A | dbSNP |
13 | g.32340365G>C | CA387787699 | BRCA2 | c.6010G>C (p.Glu2004Gln) c.5641G>C (p.Glu1881Gln) n.6010G>C | dbSNP COSMIC |
13 | g.32340365G>T | CA387787697 | BRCA2 | c.6010G>T (p.Glu2004Ter) c.5641G>T (p.Glu1881Ter) n.6010G>T | ClinVar dbSNP |
13 | g.32340365_32340370delinsGAAGAT | CA2082809156 | BRCA2 | c.6010_6015delinsGAAGAT (p.Glu2004=) c.5641_5646delinsGAAGAT (p.Glu1881=) n.6010_6015delinsGAAGAT | |
13 | g.32340366A= | CA2082809175 | BRCA2 | c.6011A= (p.Glu2004=) c.5642A= (p.Glu1881=) n.6011A= | |
13 | g.32340366A>C | CA387787703 | BRCA2 | c.6011A>C (p.Glu2004Ala) c.5642A>C (p.Glu1881Ala) n.6011A>C | |
13 | g.32340366A>G | CA350195 | BRCA2 | c.6011A>G (p.Glu2004Gly) c.5642A>G (p.Glu1881Gly) n.6011A>G | ClinVar dbSNP |
13 | g.32340366A>T | CA387787705 | BRCA2 | c.6011A>T (p.Glu2004Val) c.5642A>T (p.Glu1881Val) n.6011A>T | dbSNP |
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.32340367A= | CA2082809185 | BRCA2 | c.6012A= (p.Glu2004=) c.5643A= (p.Glu1881=) n.6012A= | |
13 | g.32340367A>C | CA387787711 | BRCA2 | c.6012A>C (p.Glu2004Asp) c.5643A>C (p.Glu1881Asp) n.6012A>C | |
13 | g.32340367A>G | CA023513 | BRCA2 | c.6012A>G (p.Glu2004=) c.5643A>G (p.Glu1881=) n.6012A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340367A>T | CA387787709 | BRCA2 | c.6012A>T (p.Glu2004Asp) c.5643A>T (p.Glu1881Asp) n.6012A>T | dbSNP |
13 | g.32340369_32340372del | CA16043339 | BRCA2 | c.6014_6017del (p.Asp2005ValfsTer?) c.5645_5648del (p.Asp1882ValfsTer?) n.6014_6017del | ClinVar dbSNP |
13 | g.32340368G>A | CA387787714 | BRCA2 | c.6013G>A (p.Asp2005Asn) c.5644G>A (p.Asp1882Asn) n.6013G>A | dbSNP |
13 | g.32340368G>C | CA387787715 | BRCA2 | c.6013G>C (p.Asp2005His) c.5644G>C (p.Asp1882His) n.6013G>C | dbSNP |
13 | g.32340368G= | CA2082809191 | BRCA2 | c.6013G= (p.Asp2005=) c.5644G= (p.Asp1882=) n.6013G= | |
13 | g.32340368G>T | CA023516 | BRCA2 | c.6013G>T (p.Asp2005Tyr) c.5644G>T (p.Asp1882Tyr) n.6013G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
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.32340369del | CA2499222220 | BRCA2 | c.6014del (p.Asp2005ValfsTer?) c.5645del (p.Asp1882ValfsTer?) n.6014del | ClinVar dbSNP |
13 | g.32340369A= | CA2082809201 | BRCA2 | c.6014A= (p.Asp2005=) c.5645A= (p.Asp1882=) n.6014A= | |
13 | g.32340369A>C | CA387787717 | BRCA2 | c.6014A>C (p.Asp2005Ala) c.5645A>C (p.Asp1882Ala) n.6014A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340369A>G | CA10579674 | BRCA2 | c.6014A>G (p.Asp2005Gly) c.5645A>G (p.Asp1882Gly) n.6014A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340369A>T | CA387787720 | BRCA2 | c.6014A>T (p.Asp2005Val) c.5645A>T (p.Asp1882Val) n.6014A>T | ClinVar dbSNP gnomAD v4 |
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 |