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.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.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 |
13 | g.32340393A>T | CA387787822 | BRCA2 | c.6038A>T (p.Lys2013Ile) c.5669A>T (p.Lys1890Ile) n.6038A>T | dbSNP |
13 | g.32340394A= | CA2082809422 | BRCA2 | c.6039A= (p.Lys2013=) c.5670A= (p.Lys1890=) n.6039A= | |
13 | g.32340394A>C | CA387787824 | BRCA2 | c.6039A>C (p.Lys2013Asn) c.5670A>C (p.Lys1890Asn) n.6039A>C | |
13 | g.32340394A>G | CA483439004 | BRCA2 | c.6039A>G (p.Lys2013=) c.5670A>G (p.Lys1890=) n.6039A>G | ClinVar dbSNP |
13 | g.32340394A>T | CA387787826 | BRCA2 | c.6039A>T (p.Lys2013Asn) c.5670A>T (p.Lys1890Asn) n.6039A>T | dbSNP |
13 | g.32340395del | CA2695217816 | BRCA2 | c.6040del (p.Val2014TyrfsTer26) c.5671del (p.Val1891TyrfsTer26) n.6040del | |
13 | g.32340395G>A | CA387787832 | BRCA2 | c.6040G>A (p.Val2014Ile) c.5671G>A (p.Val1891Ile) n.6040G>A | ClinVar dbSNP |
13 | g.32340395G>C | CA387787830 | BRCA2 | c.6040G>C (p.Val2014Leu) c.5671G>C (p.Val1891Leu) n.6040G>C | dbSNP |
13 | g.32340395G>T | CA387787828 | BRCA2 | c.6040G>T (p.Val2014Leu) c.5671G>T (p.Val1891Leu) n.6040G>T | dbSNP gnomAD v4 |
13 | g.32340396T>A | CA387787834 | BRCA2 | c.6041T>A (p.Val2014Glu) c.5672T>A (p.Val1891Glu) n.6041T>A | dbSNP |
13 | g.32340396T>C | CA387787836 | BRCA2 | c.6041T>C (p.Val2014Ala) c.5672T>C (p.Val1891Ala) n.6041T>C | ClinVar dbSNP |
13 | g.32340396T>G | CA387787838 | BRCA2 | c.6041T>G (p.Val2014Gly) c.5672T>G (p.Val1891Gly) n.6041T>G | dbSNP |
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340397A= | CA2082809425 | BRCA2 | c.6042A= (p.Val2014=) c.5673A= (p.Val1891=) n.6042A= | |
13 | g.32340397A>C | CA483439010 | BRCA2 | c.6042A>C (p.Val2014=) c.5673A>C (p.Val1891=) n.6042A>C | |
13 | g.32340397A>G | CA483439011 | BRCA2 | c.6042A>G (p.Val2014=) c.5673A>G (p.Val1891=) n.6042A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340397A>T | CA483439012 | BRCA2 | c.6042A>T (p.Val2014=) c.5673A>T (p.Val1891=) n.6042A>T | dbSNP |
13 | g.32340397_32340400delinsATTG | CA2082809424 | BRCA2 | c.6042_6045delinsATTG (p.Val2014=) c.5673_5676delinsATTG (p.Val1891=) n.6042_6045delinsATTG | |
13 | g.32340398T>A | CA387787840 | BRCA2 | c.6043T>A (p.Leu2015Met) c.5674T>A (p.Leu1892Met) n.6043T>A | dbSNP |
13 | g.32340398T>C | CA483439013 | BRCA2 | c.6043T>C (p.Leu2015=) c.5674T>C (p.Leu1892=) n.6043T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340398T>G | CA387787842 | BRCA2 | c.6043T>G (p.Leu2015Val) c.5674T>G (p.Leu1892Val) n.6043T>G | gnomAD v4 |
13 | g.32340398T= | CA2082809430 | BRCA2 | c.6043T= (p.Leu2015=) c.5674T= (p.Leu1892=) n.6043T= | |
13 | g.32340400_32340402del | CA609453791 | BRCA2 | c.6045_6047del (p.Leu2015del) c.5676_5678del (p.Leu1892del) n.6045_6047del | dbSNP gnomAD v2 |