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.32340629_32340630delinsCT | CA2082812639 | BRCA2 | c.6274_6275delinsCT (p.Leu2092=) c.5905_5906delinsCT (p.Leu1969=) n.6274_6275delinsCT | |
13 | g.32340629_32340631delinsCTT | CA2082812644 | BRCA2 | c.6274_6276delinsCTT (p.Leu2092=) c.5905_5907delinsCTT (p.Leu1969=) n.6274_6276delinsCTT | |
13 | g.32340629_32340636delinsCTTCACTA | CA2082812640 | BRCA2 | c.6274_6281delinsCTTCACTA (p.Leu2092=) c.5905_5912delinsCTTCACTA (p.Leu1969=) n.6274_6281delinsCTTCACTA | |
13 | g.32340630T>A | CA387788978 | BRCA2 | c.6275T>A (p.Leu2092His) c.5906T>A (p.Leu1969His) n.6275T>A | dbSNP |
13 | g.32340630T>C | CA387788979 | BRCA2 | c.6275T>C (p.Leu2092Pro) c.5906T>C (p.Leu1969Pro) n.6275T>C | ClinVar dbSNP |
13 | g.32340630T>G | CA387788980 | BRCA2 | c.6275T>G (p.Leu2092Arg) c.5906T>G (p.Leu1969Arg) n.6275T>G | |
13 | g.32340630T= | CA2082812670 | BRCA2 | c.6275T= (p.Leu2092=) c.5906T= (p.Leu1969=) n.6275T= | |
13 | g.32340630_32340631del | CA023808 | BRCA2 | c.6275_6276del (p.Leu2092ProfsTer7) c.5906_5907del (p.Leu1969ProfsTer7) n.6275_6276del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340631del | CA023810 | BRCA2 | c.6276del (p.His2093ThrfsTer26) c.5907del (p.His1970ThrfsTer26) n.6276del | ClinVar dbSNP |
13 | g.32340635_32340641del | CA023816 | BRCA2 | c.6280_6286del (p.Tyr2094LeufsTer23) c.5911_5917del (p.Tyr1971LeufsTer23) n.6280_6286del | ClinVar dbSNP |
13 | g.32340631T>A | CA483438747 | BRCA2 | c.6276T>A (p.Leu2092=) c.5907T>A (p.Leu1969=) n.6276T>A | dbSNP |
13 | g.32340631T>C | CA483438748 | BRCA2 | c.6276T>C (p.Leu2092=) c.5907T>C (p.Leu1969=) n.6276T>C | dbSNP |
13 | g.32340631T>G | CA483438749 | BRCA2 | c.6276T>G (p.Leu2092=) c.5907T>G (p.Leu1969=) n.6276T>G | |
13 | g.32340631T= | CA2082812677 | BRCA2 | c.6276T= (p.Leu2092=) c.5907T= (p.Leu1969=) n.6276T= | |
13 | g.32340632C>A | CA387788981 | BRCA2 | c.6277C>A (p.His2093Asn) c.5908C>A (p.His1970Asn) n.6277C>A | dbSNP |
13 | g.32340632C= | CA2082812695 | BRCA2 | c.6277C= (p.His2093=) c.5908C= (p.His1970=) n.6277C= | |
13 | g.32340632C>G | CA387788983 | BRCA2 | c.6277C>G (p.His2093Asp) c.5908C>G (p.His1970Asp) n.6277C>G | dbSNP |
13 | g.32340632C>T | CA387788982 | BRCA2 | c.6277C>T (p.His2093Tyr) c.5908C>T (p.His1970Tyr) n.6277C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340632dup | CA10586554 | BRCA2 | c.6277dup (p.His2093ProfsTer7) c.5908dup (p.His1970ProfsTer7) n.6277dup | ClinVar dbSNP |
13 | g.32340633A= | CA2082812720 | BRCA2 | c.6278A= (p.His2093=) c.5909A= (p.His1970=) n.6278A= | |
13 | g.32340633A>C | CA387788984 | BRCA2 | c.6278A>C (p.His2093Pro) c.5909A>C (p.His1970Pro) n.6278A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340633A>G | CA387788985 | BRCA2 | c.6278A>G (p.His2093Arg) c.5909A>G (p.His1970Arg) n.6278A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340633A>T | CA387788986 | BRCA2 | c.6278A>T (p.His2093Leu) c.5909A>T (p.His1970Leu) n.6278A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340633_32340641delinsACTATTCAC | CA2082812717 | BRCA2 | c.6278_6286delinsACTATTCAC (p.His2093=) c.5909_5917delinsACTATTCAC (p.His1970=) n.6278_6286delinsACTATTCAC | |
13 | g.32340634C>A | CA387788987 | BRCA2 | c.6279C>A (p.His2093Gln) c.5910C>A (p.His1970Gln) n.6279C>A | ClinVar dbSNP |
13 | g.32340634C= | CA2082812739 | BRCA2 | c.6279C= (p.His2093=) c.5910C= (p.His1970=) n.6279C= | |
13 | g.32340634C>G | CA387788988 | BRCA2 | c.6279C>G (p.His2093Gln) c.5910C>G (p.His1970Gln) n.6279C>G | ClinVar dbSNP |
13 | g.32340634C>T | CA483438750 | BRCA2 | c.6279C>T (p.His2093=) c.5910C>T (p.His1970=) n.6279C>T | ClinVar dbSNP |
13 | g.32340637_32340644del | CA023821 | BRCA2 | c.6282_6289del (p.Ser2095ValfsTer2) c.5913_5920del (p.Ser1972ValfsTer2) n.6282_6289del | ClinVar dbSNP |
13 | g.32340635T>A | CA387788989 | BRCA2 | c.6280T>A (p.Tyr2094Asn) c.5911T>A (p.Tyr1971Asn) n.6280T>A | dbSNP |
13 | g.32340635T>C | CA387788990 | BRCA2 | c.6280T>C (p.Tyr2094His) c.5911T>C (p.Tyr1971His) n.6280T>C | dbSNP |
13 | g.32340635T>G | CA387788991 | BRCA2 | c.6280T>G (p.Tyr2094Asp) c.5911T>G (p.Tyr1971Asp) n.6280T>G | |
13 | g.32340636A= | CA2082812754 | BRCA2 | c.6281A= (p.Tyr2094=) c.5912A= (p.Tyr1971=) n.6281A= | |
13 | g.32340636A>C | CA387788993 | BRCA2 | c.6281A>C (p.Tyr2094Ser) c.5912A>C (p.Tyr1971Ser) n.6281A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340636A>G | CA023819 | BRCA2 | c.6281A>G (p.Tyr2094Cys) c.5912A>G (p.Tyr1971Cys) n.6281A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340636A>T | CA387788992 | BRCA2 | c.6281A>T (p.Tyr2094Phe) c.5912A>T (p.Tyr1971Phe) n.6281A>T | dbSNP |
13 | g.32340637T>A | CA387788994 | BRCA2 | c.6282T>A (p.Tyr2094Ter) c.5913T>A (p.Tyr1971Ter) n.6282T>A | ClinVar dbSNP |
13 | g.32340637T>C | CA483438752 | BRCA2 | c.6282T>C (p.Tyr2094=) c.5913T>C (p.Tyr1971=) n.6282T>C | ClinVar |
13 | g.32340637T>G | CA387788995 | BRCA2 | c.6282T>G (p.Tyr2094Ter) c.5913T>G (p.Tyr1971Ter) n.6282T>G | dbSNP |
13 | g.32340637T= | CA2082812771 | BRCA2 | c.6282T= (p.Tyr2094=) c.5913T= (p.Tyr1971=) n.6282T= | |
13 | g.32340638T>A | CA387788996 | BRCA2 | c.6283T>A (p.Ser2095Thr) c.5914T>A (p.Ser1972Thr) n.6283T>A | dbSNP |
13 | g.32340638T>C | CA387788997 | BRCA2 | c.6283T>C (p.Ser2095Pro) c.5914T>C (p.Ser1972Pro) n.6283T>C | dbSNP |
13 | g.32340638T>G | CA387788998 | BRCA2 | c.6283T>G (p.Ser2095Ala) c.5914T>G (p.Ser1972Ala) n.6283T>G | dbSNP |
13 | g.32340639C>A | CA387788999 | BRCA2 | c.6284C>A (p.Ser2095Ter) c.5915C>A (p.Ser1972Ter) n.6284C>A | ClinVar dbSNP |
13 | g.32340639C= | CA2082812792 | BRCA2 | c.6284C= (p.Ser2095=) c.5915C= (p.Ser1972=) n.6284C= | |
13 | g.32340639C>G | CA387789000 | BRCA2 | c.6284C>G (p.Ser2095Ter) c.5915C>G (p.Ser1972Ter) n.6284C>G | ClinVar dbSNP |
13 | g.32340639C>T | CA387789001 | BRCA2 | c.6284C>T (p.Ser2095Leu) c.5915C>T (p.Ser1972Leu) n.6284C>T | dbSNP |