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.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340649_32340650insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT | CA2573149409 | BRCA2 | c.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg2099GlnfsTer12) c.5925_5926insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT (p.Arg1976GlnfsTer12) n.6294_6295insCAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGTGGAAAGCAAGTTTCCATTTTAGAAAGTTCCTTACACAAAGTTAAGGGAGTGTTAGAGGAATTTGATTTAATCAGAACTGAGCATAGTCTTCACTATTCACCTACGTCT | ClinVar dbSNP |
13 | g.32340490_32340494del | CA2582341809 | BRCA2 | c.6135_6139del (p.Phe2045LeufsTer2) c.5766_5770del (p.Phe1922LeufsTer2) n.6135_6139del | ClinVar |
13 | g.32340491_32340493delinsTCA | CA2082810751 | BRCA2 | c.6136_6138delinsTCA (p.Ser2046=) c.5767_5769delinsTCA (p.Ser1923=) n.6136_6138delinsTCA | |
13 | g.32340492C>A | CA387788233 | BRCA2 | c.6137C>A (p.Ser2046Ter) c.5768C>A (p.Ser1923Ter) n.6137C>A | |
13 | g.32340492C= | CA2082810765 | BRCA2 | c.6137C= (p.Ser2046=) c.5768C= (p.Ser1923=) n.6137C= | |
13 | g.32340492C>G | CA387788234 | BRCA2 | c.6137C>G (p.Ser2046Ter) c.5768C>G (p.Ser1923Ter) n.6137C>G | ClinVar dbSNP |
13 | g.32340492C>T | CA387788231 | BRCA2 | c.6137C>T (p.Ser2046Leu) c.5768C>T (p.Ser1923Leu) n.6137C>T | ClinVar dbSNP |
13 | g.32340492_32340493del | CA10589356 | BRCA2 | c.6137_6138del (p.Ser2046LeufsTer2) c.5768_5769del (p.Ser1923LeufsTer2) n.6137_6138del | ClinVar dbSNP |
13 | g.32340493A= | CA2082810777 | BRCA2 | c.6138A= (p.Ser2046=) c.5769A= (p.Ser1923=) n.6138A= | |
13 | g.32340493A>C | CA483439222 | BRCA2 | c.6138A>C (p.Ser2046=) c.5769A>C (p.Ser1923=) n.6138A>C | |
13 | g.32340493A>G | CA483439224 | BRCA2 | c.6138A>G (p.Ser2046=) c.5769A>G (p.Ser1923=) n.6138A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340493A>T | CA483439225 | BRCA2 | c.6138A>T (p.Ser2046=) c.5769A>T (p.Ser1923=) n.6138A>T | dbSNP |
13 | g.32340494T>A | CA387788236 | BRCA2 | c.6139T>A (p.Tyr2047Asn) c.5770T>A (p.Tyr1924Asn) n.6139T>A | dbSNP |
13 | g.32340494T>C | CA387788238 | BRCA2 | c.6139T>C (p.Tyr2047His) c.5770T>C (p.Tyr1924His) n.6139T>C | ClinVar |
13 | g.32340494T>G | CA387788239 | BRCA2 | c.6139T>G (p.Tyr2047Asp) c.5770T>G (p.Tyr1924Asp) n.6139T>G | |
13 | g.32340495A= | CA2082810787 | BRCA2 | c.6140A= (p.Tyr2047=) c.5771A= (p.Tyr1924=) n.6140A= | |
13 | g.32340495A>C | CA387788241 | BRCA2 | c.6140A>C (p.Tyr2047Ser) c.5771A>C (p.Tyr1924Ser) n.6140A>C | dbSNP |
13 | g.32340495A>G | CA023691 | BRCA2 | c.6140A>G (p.Tyr2047Cys) c.5771A>G (p.Tyr1924Cys) n.6140A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340495A>T | CA387788243 | BRCA2 | c.6140A>T (p.Tyr2047Phe) c.5771A>T (p.Tyr1924Phe) n.6140A>T | dbSNP |
13 | g.32340495dup | CA2580087790 | BRCA2 | c.6140dup (p.Tyr2047Ter) c.5771dup (p.Tyr1924Ter) n.6140dup | ClinVar |
13 | g.32340497_32340499del | CA2580087789 | BRCA2 | c.6142_6144del (p.Asn2048del) c.5773_5775del (p.Asn1925del) n.6142_6144del | ClinVar |
13 | g.32340496T>A | CA387788245 | BRCA2 | c.6141T>A (p.Tyr2047Ter) c.5772T>A (p.Tyr1924Ter) n.6141T>A | ClinVar dbSNP |
13 | g.32340496T>C | CA483439229 | BRCA2 | c.6141T>C (p.Tyr2047=) c.5772T>C (p.Tyr1924=) n.6141T>C | ClinVar dbSNP |
13 | g.32340496T>G | CA387788246 | BRCA2 | c.6141T>G (p.Tyr2047Ter) c.5772T>G (p.Tyr1924Ter) n.6141T>G | ClinVar dbSNP |
13 | g.32340496T= | CA2082810797 | BRCA2 | c.6141T= (p.Tyr2047=) c.5772T= (p.Tyr1924=) n.6141T= | |
13 | g.32340496dup | CA2695217818 | BRCA2 | c.6141dup (p.Asn2048Ter) c.5772dup (p.Asn1925Ter) n.6141dup | |
13 | g.32340497A= | CA2082810811 | BRCA2 | c.6142A= (p.Asn2048=) c.5773A= (p.Asn1925=) n.6142A= | |
13 | g.32340497A>C | CA387788249 | BRCA2 | c.6142A>C (p.Asn2048His) c.5773A>C (p.Asn1925His) n.6142A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340497A>G | CA387788251 | BRCA2 | c.6142A>G (p.Asn2048Asp) c.5773A>G (p.Asn1925Asp) n.6142A>G | gnomAD v4 |
13 | g.32340497A>T | CA387788253 | BRCA2 | c.6142A>T (p.Asn2048Tyr) c.5773A>T (p.Asn1925Tyr) n.6142A>T | dbSNP |
13 | g.32340498A= | CA2082810842 | BRCA2 | c.6143A= (p.Asn2048=) c.5774A= (p.Asn1925=) n.6143A= | |
13 | g.32340498A>C | CA023693 | BRCA2 | c.6143A>C (p.Asn2048Thr) c.5774A>C (p.Asn1925Thr) n.6143A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340498A>G | CA387788255 | BRCA2 | c.6143A>G (p.Asn2048Ser) c.5774A>G (p.Asn1925Ser) n.6143A>G | ClinVar dbSNP |
13 | g.32340498A>T | CA023695 | BRCA2 | c.6143A>T (p.Asn2048Ile) c.5774A>T (p.Asn1925Ile) n.6143A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340499T>A | CA387788257 | BRCA2 | c.6144T>A (p.Asn2048Lys) c.5775T>A (p.Asn1925Lys) n.6144T>A | dbSNP |
13 | g.32340499T>C | CA483439236 | BRCA2 | c.6144T>C (p.Asn2048=) c.5775T>C (p.Asn1925=) n.6144T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340499T>G | CA023696 | BRCA2 | c.6144T>G (p.Asn2048Lys) c.5775T>G (p.Asn1925Lys) n.6144T>G | ClinVar dbSNP |
13 | g.32340499T= | CA2082810853 | BRCA2 | c.6144T= (p.Asn2048=) c.5775T= (p.Asn1925=) n.6144T= | |
13 | g.32340499_32340500delinsTG | CA2082810854 | BRCA2 | c.6144_6145delinsTG (p.Asn2048=) c.5775_5776delinsTG (p.Asn1925=) n.6144_6145delinsTG | |
13 | g.32340499_32340502delinsTGTG | CA2082810861 | BRCA2 | c.6144_6147delinsTGTG (p.Asn2048=) c.5775_5778delinsTGTG (p.Asn1925=) n.6144_6147delinsTGTG | |
13 | g.32340499_32340500insA | CA658823695 | BRCA2 | c.6144_6145insA (p.Val2049SerfsTer11) c.5775_5776insA (p.Val1926SerfsTer11) n.6144_6145insA | ClinVar dbSNP |
13 | g.32340500del | CA10589357 | BRCA2 | c.6145del (p.Val2049TrpfsTer2) c.5776del (p.Val1926TrpfsTer2) n.6145del | ClinVar dbSNP |
13 | g.32340500G>A | CA387788266 | BRCA2 | c.6145G>A (p.Val2049Met) c.5776G>A (p.Val1926Met) n.6145G>A | ClinVar dbSNP |
13 | g.32340500G>C | CA387788264 | BRCA2 | c.6145G>C (p.Val2049Leu) c.5776G>C (p.Val1926Leu) n.6145G>C | dbSNP |
13 | g.32340500G= | CA2082810889 | BRCA2 | c.6145G= (p.Val2049=) c.5776G= (p.Val1926=) n.6145G= | |
13 | g.32340500G>T | CA387788262 | BRCA2 | c.6145G>T (p.Val2049Leu) c.5776G>T (p.Val1926Leu) n.6145G>T | gnomAD v4 |
13 | g.32340502_32340504del | CA6940929 | BRCA2 | c.6147_6149del (p.Val2050del) c.5778_5780del (p.Val1927del) n.6147_6149del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340500_32340501insA | CA645372976 | BRCA2 | c.6145_6146insA (p.Val2049AspfsTer11) c.5776_5777insA (p.Val1926AspfsTer11) n.6145_6146insA | ClinVar dbSNP |