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.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 |
13 | g.32340388_32340389del | CA023552 | BRCA2 | c.6033_6034del (p.Ser2012GlnfsTer5) c.5664_5665del (p.Ser1889GlnfsTer5) n.6033_6034del | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32340387T>A | CA387787790 | BRCA2 | c.6032T>A (p.Phe2011Tyr) c.5663T>A (p.Phe1888Tyr) n.6032T>A | dbSNP |
13 | g.32340387T>C | CA387787792 | BRCA2 | c.6032T>C (p.Phe2011Ser) c.5663T>C (p.Phe1888Ser) n.6032T>C | ClinVar dbSNP |
13 | g.32340387T>G | CA387787793 | BRCA2 | c.6032T>G (p.Phe2011Cys) c.5663T>G (p.Phe1888Cys) n.6032T>G | |
13 | g.32340387T= | CA2082809364 | BRCA2 | c.6032T= (p.Phe2011=) c.5663T= (p.Phe1888=) n.6032T= | |
13 | g.32340387_32340388insGT | CA658823680 | BRCA2 | c.6032_6033insGT (p.Phe2011LeufsTer30) c.5663_5664insGT (p.Phe1888LeufsTer30) n.6032_6033insGT | ClinVar dbSNP |
13 | g.32340388T>A | CA387787795 | BRCA2 | c.6033T>A (p.Phe2011Leu) c.5664T>A (p.Phe1888Leu) n.6033T>A | dbSNP |
13 | g.32340388T>C | CA483438990 | BRCA2 | c.6033T>C (p.Phe2011=) c.5664T>C (p.Phe1888=) n.6033T>C | |
13 | g.32340388T>G | CA387787796 | BRCA2 | c.6033T>G (p.Phe2011Leu) c.5664T>G (p.Phe1888Leu) n.6033T>G | dbSNP |
13 | g.32340388_32340389insGT | CA023557 | BRCA2 | c.6033_6034insGT (p.Ser2012ValfsTer29) c.5664_5665insGT (p.Ser1889ValfsTer29) n.6033_6034insGT | ClinVar dbSNP |
13 | g.32340389T>A | CA387787804 | BRCA2 | c.6034T>A (p.Ser2012Thr) c.5665T>A (p.Ser1889Thr) n.6034T>A | |
13 | g.32340389T>C | CA387787802 | BRCA2 | c.6034T>C (p.Ser2012Pro) c.5665T>C (p.Ser1889Pro) n.6034T>C | ClinVar |
13 | g.32340389T>G | CA387787799 | BRCA2 | c.6034T>G (p.Ser2012Ala) c.5665T>G (p.Ser1889Ala) n.6034T>G | |
13 | g.32340389_32340390delinsTC | CA2082809373 | BRCA2 | c.6034_6035delinsTC (p.Ser2012=) c.5665_5666delinsTC (p.Ser1889=) n.6034_6035delinsTC | |
13 | g.32340390C>A | CA387787807 | BRCA2 | c.6035C>A (p.Ser2012Tyr) c.5666C>A (p.Ser1889Tyr) n.6035C>A | ClinVar dbSNP |
13 | g.32340390C= | CA2082809386 | BRCA2 | c.6035C= (p.Ser2012=) c.5666C= (p.Ser1889=) n.6035C= | |
13 | g.32340390C>G | CA387787808 | BRCA2 | c.6035C>G (p.Ser2012Cys) c.5666C>G (p.Ser1889Cys) n.6035C>G | dbSNP |
13 | g.32340390C>T | CA387787810 | BRCA2 | c.6035C>T (p.Ser2012Phe) c.5666C>T (p.Ser1889Phe) n.6035C>T | dbSNP |
13 | g.32340391del | CA658653660 | BRCA2 | c.6036del (p.Val2014TyrfsTer26) c.5667del (p.Val1891TyrfsTer26) n.6036del | ClinVar dbSNP |
13 | g.32340391C>A | CA483438992 | BRCA2 | c.6036C>A (p.Ser2012=) c.5667C>A (p.Ser1889=) n.6036C>A | dbSNP |
13 | g.32340391C>G | CA483438994 | BRCA2 | c.6036C>G (p.Ser2012=) c.5667C>G (p.Ser1889=) n.6036C>G | dbSNP |
13 | g.32340391C>T | CA483438996 | BRCA2 | c.6036C>T (p.Ser2012=) c.5667C>T (p.Ser1889=) n.6036C>T | dbSNP |
13 | g.32340391_32340392delinsCA | CA2082809397 | BRCA2 | c.6036_6037delinsCA (p.Ser2012=) c.5667_5668delinsCA (p.Ser1889=) n.6036_6037delinsCA | |
13 | g.32340392A= | CA2082809413 | BRCA2 | c.6037A= (p.Lys2013=) c.5668A= (p.Lys1890=) n.6037A= | |
13 | g.32340392A>C | CA387787813 | BRCA2 | c.6037A>C (p.Lys2013Gln) c.5668A>C (p.Lys1890Gln) n.6037A>C | |
13 | g.32340392A>G | CA023559 | BRCA2 | c.6037A>G (p.Lys2013Glu) c.5668A>G (p.Lys1890Glu) n.6037A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340392A>T | CA023562 | BRCA2 | c.6037A>T (p.Lys2013Ter) c.5668A>T (p.Lys1890Ter) n.6037A>T | ClinVar dbSNP |
13 | g.32340394del | CA10579677 | BRCA2 | c.6039del (p.Val2014TyrfsTer26) c.5670del (p.Val1891TyrfsTer26) n.6039del | ClinVar dbSNP |
13 | g.32340393A= | CA2082809421 | BRCA2 | c.6038A= (p.Lys2013=) c.5669A= (p.Lys1890=) n.6038A= | |
13 | g.32340393A>C | CA387787818 | BRCA2 | c.6038A>C (p.Lys2013Thr) c.5669A>C (p.Lys1890Thr) n.6038A>C | |
13 | g.32340393A>G | CA10579676 | BRCA2 | c.6038A>G (p.Lys2013Arg) c.5669A>G (p.Lys1890Arg) n.6038A>G | ClinVar dbSNP |