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.32340486G>A | CA387788208 | BRCA2 | c.6131G>A (p.Gly2044Asp) c.5762G>A (p.Gly1921Asp) n.6131G>A | ClinVar dbSNP |
13 | g.32340486G>C | CA023684 | BRCA2 | c.6131G>C (p.Gly2044Ala) c.5762G>C (p.Gly1921Ala) n.6131G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340486G= | CA2082810686 | BRCA2 | c.6131G= (p.Gly2044=) c.5762G= (p.Gly1921=) n.6131G= | |
13 | g.32340486G>T | CA023686 | BRCA2 | c.6131G>T (p.Gly2044Val) c.5762G>T (p.Gly1921Val) n.6131G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340487C>A | CA16606689 | BRCA2 | c.6132C>A (p.Gly2044=) c.5763C>A (p.Gly1921=) n.6132C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340487C= | CA2082810701 | BRCA2 | c.6132C= (p.Gly2044=) c.5763C= (p.Gly1921=) n.6132C= | |
13 | g.32340487C>G | CA483439211 | BRCA2 | c.6132C>G (p.Gly2044=) c.5763C>G (p.Gly1921=) n.6132C>G | dbSNP |
13 | g.32340487C>T | CA483439212 | BRCA2 | c.6132C>T (p.Gly2044=) c.5763C>T (p.Gly1921=) n.6132C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340487_32340488delinsCT | CA2082810705 | BRCA2 | c.6132_6133delinsCT (p.Gly2044=) c.5763_5764delinsCT (p.Gly1921=) n.6132_6133delinsCT | |
13 | g.32340488T>A | CA387788210 | BRCA2 | c.6133T>A (p.Phe2045Ile) c.5764T>A (p.Phe1922Ile) n.6133T>A | dbSNP |
13 | g.32340488T>C | CA387788212 | BRCA2 | c.6133T>C (p.Phe2045Leu) c.5764T>C (p.Phe1922Leu) n.6133T>C | dbSNP |
13 | g.32340488T>G | CA387788214 | BRCA2 | c.6133T>G (p.Phe2045Val) c.5764T>G (p.Phe1922Val) n.6133T>G | dbSNP |
13 | g.32340488T= | CA2082810739 | BRCA2 | c.6133T= (p.Phe2045=) c.5764T= (p.Phe1922=) n.6133T= | |
13 | g.32340491dup | CA2580087788 | BRCA2 | c.6136dup (p.Ser2046PhefsTer3) c.5767dup (p.Ser1923PhefsTer3) n.6136dup | ClinVar |
13 | g.32340491del | CA10586552 | BRCA2 | c.6136del (p.Ser2046HisfsTer5) c.5767del (p.Ser1923HisfsTer5) n.6136del | ClinVar dbSNP |
13 | g.32340489T>A | CA387788217 | BRCA2 | c.6134T>A (p.Phe2045Tyr) c.5765T>A (p.Phe1922Tyr) n.6134T>A | dbSNP |
13 | g.32340489T>C | CA387788219 | BRCA2 | c.6134T>C (p.Phe2045Ser) c.5765T>C (p.Phe1922Ser) n.6134T>C | |
13 | g.32340489T>G | CA387788221 | BRCA2 | c.6134T>G (p.Phe2045Cys) c.5765T>G (p.Phe1922Cys) n.6134T>G | |
13 | g.32340490_32340494del | CA2582341809 | BRCA2 | c.6135_6139del (p.Phe2045LeufsTer2) c.5766_5770del (p.Phe1922LeufsTer2) n.6135_6139del | ClinVar |
13 | g.32340490T>A | CA387788223 | BRCA2 | c.6135T>A (p.Phe2045Leu) c.5766T>A (p.Phe1922Leu) n.6135T>A | dbSNP |
13 | g.32340490T>C | CA483439217 | BRCA2 | c.6135T>C (p.Phe2045=) c.5766T>C (p.Phe1922=) n.6135T>C | |
13 | g.32340490T>G | CA387788224 | BRCA2 | c.6135T>G (p.Phe2045Leu) c.5766T>G (p.Phe1922Leu) n.6135T>G | |
13 | g.32340491T>A | CA387788225 | BRCA2 | c.6136T>A (p.Ser2046Thr) c.5767T>A (p.Ser1923Thr) n.6136T>A | dbSNP |
13 | g.32340491T>C | CA387788227 | BRCA2 | c.6136T>C (p.Ser2046Pro) c.5767T>C (p.Ser1923Pro) n.6136T>C | |
13 | g.32340491T>G | CA387788228 | BRCA2 | c.6136T>G (p.Ser2046Ala) c.5767T>G (p.Ser1923Ala) n.6136T>G | |
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 |