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.32340619_32340623del | CA658761211 | BRCA2 | c.6264_6268del (p.Glu2089Ter) c.5895_5899del (p.Glu1966Ter) n.6264_6268del | |
13 | g.32340621_32340623delinsAGC | CA2082812372 | BRCA2 | c.6266_6268delinsAGC (p.Glu2089=) c.5897_5899delinsAGC (p.Glu1966=) n.6266_6268delinsAGC | |
13 | g.32340621_32340624delinsAGCA | CA2082812346 | BRCA2 | c.6266_6269delinsAGCA (p.Glu2089=) c.5897_5900delinsAGCA (p.Glu1966=) n.6266_6269delinsAGCA | |
13 | g.32340621_32340629delinsAGCATAGTC | CA2082812371 | BRCA2 | c.6266_6274delinsAGCATAGTC (p.Glu2089=) c.5897_5905delinsAGCATAGTC (p.Glu1966=) n.6266_6274delinsAGCATAGTC | |
13 | g.32340622_32340623del | CA10589366 | BRCA2 | c.6267_6268del (p.His2090Ter) c.5898_5899del (p.His1967Ter) n.6267_6268del | ClinVar dbSNP |
13 | g.32340622_32340624delinsC | CA023794 | BRCA2 | c.6267_6269delinsC (p.Glu2089AspfsTer2) c.5898_5900delinsC (p.Glu1966AspfsTer2) n.6267_6269delinsC | ClinVar dbSNP |
13 | g.32340622_32340624delinsGCA | CA2082812417 | BRCA2 | c.6267_6269delinsGCA (p.Glu2089=) c.5898_5900delinsGCA (p.Glu1966=) n.6267_6269delinsGCA | |
13 | g.32340622_32340625dup | CA023803 | BRCA2 | c.6267_6270dup (p.Ser2091AlafsTer2) c.5898_5901dup (p.Ser1968AlafsTer2) n.6267_6270dup | ClinVar dbSNP |
13 | g.32340622_32340629del | CA10579686 | BRCA2 | c.6267_6274del (p.Glu2089AspfsTer8) c.5898_5905del (p.Glu1966AspfsTer8) n.6267_6274del | ClinVar dbSNP |
13 | g.32340623C>A | CA387788965 | BRCA2 | c.6268C>A (p.His2090Asn) c.5899C>A (p.His1967Asn) n.6268C>A | dbSNP |
13 | g.32340623C= | CA2082812447 | BRCA2 | c.6268C= (p.His2090=) c.5899C= (p.His1967=) n.6268C= | |
13 | g.32340623C>G | CA387788966 | BRCA2 | c.6268C>G (p.His2090Asp) c.5899C>G (p.His1967Asp) n.6268C>G | ClinVar dbSNP |
13 | g.32340623C>T | CA387788967 | BRCA2 | c.6268C>T (p.His2090Tyr) c.5899C>T (p.His1967Tyr) n.6268C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340623_32340624del | CA023797 | BRCA2 | c.6268_6269del (p.His2090Ter) c.5899_5900del (p.His1967Ter) n.6268_6269del | ClinVar dbSNP |
13 | g.32340623_32340624delinsCA | CA2082812452 | BRCA2 | c.6268_6269delinsCA (p.His2090=) c.5899_5900delinsCA (p.His1967=) n.6268_6269delinsCA | |
13 | g.32340623_32340625delinsCAT | CA2082812459 | BRCA2 | c.6268_6270delinsCAT (p.His2090=) c.5899_5901delinsCAT (p.His1967=) n.6268_6270delinsCAT | |
13 | g.32340624del | CA609453797 | BRCA2 | c.6269del (p.His2090LeufsTer29) c.5900del (p.His1967LeufsTer29) n.6269del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340624A= | CA2082812486 | BRCA2 | c.6269A= (p.His2090=) c.5900A= (p.His1967=) n.6269A= | |
13 | g.32340624A>C | CA387788968 | BRCA2 | c.6269A>C (p.His2090Pro) c.5900A>C (p.His1967Pro) n.6269A>C | dbSNP |
13 | g.32340624A>G | CA023799 | BRCA2 | c.6269A>G (p.His2090Arg) c.5900A>G (p.His1967Arg) n.6269A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340624A>T | CA387788969 | BRCA2 | c.6269A>T (p.His2090Leu) c.5900A>T (p.His1967Leu) n.6269A>T | ClinVar dbSNP |
13 | g.32340625_32340626del | CA023800 | BRCA2 | c.6270_6271del (p.His2090GlnfsTer9) c.5901_5902del (p.His1967GlnfsTer9) n.6270_6271del | ClinVar dbSNP gnomAD v4 |
13 | g.32340625T>A | CA387788971 | BRCA2 | c.6270T>A (p.His2090Gln) c.5901T>A (p.His1967Gln) n.6270T>A | |
13 | g.32340625T>C | CA483438743 | BRCA2 | c.6270T>C (p.His2090=) c.5901T>C (p.His1967=) n.6270T>C | ClinVar dbSNP |
13 | g.32340625T>G | CA387788970 | BRCA2 | c.6270T>G (p.His2090Gln) c.5901T>G (p.His1967Gln) n.6270T>G | |
13 | g.32340625T= | CA2082812501 | BRCA2 | c.6270T= (p.His2090=) c.5901T= (p.His1967=) n.6270T= | |
13 | g.32340626del | CA2697551805 | BRCA2 | c.6271del (p.Ser2091ValfsTer28) c.5902del (p.Ser1968ValfsTer28) n.6271del | ClinVar |
13 | g.32340626A= | CA2082812568 | BRCA2 | c.6271A= (p.Ser2091=) c.5902A= (p.Ser1968=) n.6271A= | |
13 | g.32340626A>C | CA023804 | BRCA2 | c.6271A>C (p.Ser2091Arg) c.5902A>C (p.Ser1968Arg) n.6271A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340626A>G | CA16613992 | BRCA2 | c.6271A>G (p.Ser2091Gly) c.5902A>G (p.Ser1968Gly) n.6271A>G | ClinVar dbSNP |
13 | g.32340626A>T | CA387788972 | BRCA2 | c.6271A>T (p.Ser2091Cys) c.5902A>T (p.Ser1968Cys) n.6271A>T | dbSNP |
13 | g.32340627G>A | CA387788973 | BRCA2 | c.6272G>A (p.Ser2091Asn) c.5903G>A (p.Ser1968Asn) n.6272G>A | ClinVar dbSNP |
13 | g.32340627G>C | CA16614333 | BRCA2 | c.6272G>C (p.Ser2091Thr) c.5903G>C (p.Ser1968Thr) n.6272G>C | ClinVar dbSNP |
13 | g.32340627G= | CA2082812577 | BRCA2 | c.6272G= (p.Ser2091=) c.5903G= (p.Ser1968=) n.6272G= | |
13 | g.32340627G>T | CA387788974 | BRCA2 | c.6272G>T (p.Ser2091Ile) c.5903G>T (p.Ser1968Ile) n.6272G>T | dbSNP |
13 | g.32340627_32340628insA | CA658823704 | BRCA2 | c.6272_6273insA (p.Ser2091ArgfsTer9) c.5903_5904insA (p.Ser1968ArgfsTer9) n.6272_6273insA | ClinVar dbSNP |
13 | g.32340628T>A | CA16619739 | BRCA2 | c.6273T>A (p.Ser2091Arg) c.5904T>A (p.Ser1968Arg) n.6273T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340628T>C | CA247513409 | BRCA2 | c.6273T>C (p.Ser2091=) c.5904T>C (p.Ser1968=) n.6273T>C | ClinVar dbSNP |
13 | g.32340628T>G | CA387788975 | BRCA2 | c.6273T>G (p.Ser2091Arg) c.5904T>G (p.Ser1968Arg) n.6273T>G | |
13 | g.32340628T= | CA2082812601 | BRCA2 | c.6273T= (p.Ser2091=) c.5904T= (p.Ser1968=) n.6273T= | |
13 | g.32340628_32340629insA | CA16619740 | BRCA2 | c.6273_6274insA (p.Leu2092ThrfsTer8) c.5904_5905insA (p.Leu1969ThrfsTer8) n.6273_6274insA | ClinVar dbSNP |
13 | g.32340629C>A | CA387788976 | BRCA2 | c.6274C>A (p.Leu2092Ile) c.5905C>A (p.Leu1969Ile) n.6274C>A | dbSNP |
13 | g.32340629C= | CA2082812636 | BRCA2 | c.6274C= (p.Leu2092=) c.5905C= (p.Leu1969=) n.6274C= | |
13 | g.32340629C>G | CA023806 | BRCA2 | c.6274C>G (p.Leu2092Val) c.5905C>G (p.Leu1969Val) n.6274C>G | dbSNP |
13 | g.32340629C>T | CA387788977 | BRCA2 | c.6274C>T (p.Leu2092Phe) c.5905C>T (p.Leu1969Phe) n.6274C>T | 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 |