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.32340571del | CA023764 | BRCA2 | c.6216del (p.Leu2073TyrfsTer8) c.5847del (p.Leu1950TyrfsTer8) n.6216del | ClinVar dbSNP gnomAD v4 |
13 | g.32340571C>A | CA483438685 | BRCA2 | c.6216C>A (p.Ser2072=) c.5847C>A (p.Ser1949=) n.6216C>A | |
13 | g.32340571C= | CA2082811672 | BRCA2 | c.6216C= (p.Ser2072=) c.5847C= (p.Ser1949=) n.6216C= | |
13 | g.32340571C>G | CA023760 | BRCA2 | c.6216C>G (p.Ser2072=) c.5847C>G (p.Ser1949=) n.6216C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340571C>T | CA023762 | BRCA2 | c.6216C>T (p.Ser2072=) c.5847C>T (p.Ser1949=) n.6216C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340572T>A | CA387788862 | BRCA2 | c.6217T>A (p.Leu2073Ile) c.5848T>A (p.Leu1950Ile) n.6217T>A | dbSNP |
13 | g.32340572T>C | CA483438687 | BRCA2 | c.6217T>C (p.Leu2073=) c.5848T>C (p.Leu1950=) n.6217T>C | ClinVar dbSNP |
13 | g.32340572T>G | CA387788863 | BRCA2 | c.6217T>G (p.Leu2073Val) c.5848T>G (p.Leu1950Val) n.6217T>G | |
13 | g.32340573dup | CA2695217820 | BRCA2 | c.6218dup (p.Leu2073PhefsTer5) c.5849dup (p.Leu1950PhefsTer5) n.6218dup | |
13 | g.32340573T>A | CA387788864 | BRCA2 | c.6218T>A (p.Leu2073Ter) c.5849T>A (p.Leu1950Ter) n.6218T>A | |
13 | g.32340573T>C | CA387788865 | BRCA2 | c.6218T>C (p.Leu2073Ser) c.5849T>C (p.Leu1950Ser) n.6218T>C | gnomAD v4 |
13 | g.32340573T>G | CA387788866 | BRCA2 | c.6218T>G (p.Leu2073Ter) c.5849T>G (p.Leu1950Ter) n.6218T>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340573T= | CA2082811684 | BRCA2 | c.6218T= (p.Leu2073=) c.5849T= (p.Leu1950=) n.6218T= | |
13 | g.32340574A>C | CA387788867 | BRCA2 | c.6219A>C (p.Leu2073Phe) c.5850A>C (p.Leu1950Phe) n.6219A>C | dbSNP |
13 | g.32340574A>G | CA483438691 | BRCA2 | c.6219A>G (p.Leu2073=) c.5850A>G (p.Leu1950=) n.6219A>G | dbSNP |
13 | g.32340574A>T | CA387788868 | BRCA2 | c.6219A>T (p.Leu2073Phe) c.5850A>T (p.Leu1950Phe) n.6219A>T | dbSNP |
13 | g.32340574dup | CA023766 | BRCA2 | c.6219dup (p.His2074ThrfsTer4) c.5850dup (p.His1951ThrfsTer4) n.6219dup | ClinVar dbSNP |
13 | g.32340574_32340575delinsAC | CA2082811706 | BRCA2 | c.6219_6220delinsAC (p.Leu2073=) c.5850_5851delinsAC (p.Leu1950=) n.6219_6220delinsAC | |
13 | g.32340574_32340577delinsACAC | CA2082811703 | BRCA2 | c.6219_6222delinsACAC (p.Leu2073=) c.5850_5853delinsACAC (p.Leu1950=) n.6219_6222delinsACAC | |
13 | g.32340577_32340578dup | CA2695199688 | BRCA2 | c.6222_6223dup (p.Lys2075ThrfsTer7) c.5853_5854dup (p.Lys1952ThrfsTer7) n.6222_6223dup | ClinVar |
13 | g.32340577_32340578del | CA2582341810 | BRCA2 | c.6222_6223del (p.His2074GlnfsTer3) c.5853_5854del (p.His1951GlnfsTer3) n.6222_6223del | ClinVar |
13 | g.32340575del | CA16614193 | BRCA2 | c.6220del (p.His2074ThrfsTer7) c.5851del (p.His1951ThrfsTer7) n.6220del | ClinVar dbSNP |
13 | g.32340575C>A | CA023770 | BRCA2 | c.6220C>A (p.His2074Asn) c.5851C>A (p.His1951Asn) n.6220C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340575C= | CA2082811725 | BRCA2 | c.6220C= (p.His2074=) c.5851C= (p.His1951=) n.6220C= | |
13 | g.32340575C>G | CA387788869 | BRCA2 | c.6220C>G (p.His2074Asp) c.5851C>G (p.His1951Asp) n.6220C>G | dbSNP COSMIC COSMIC |
13 | g.32340575C>T | CA6940936 | BRCA2 | c.6220C>T (p.His2074Tyr) c.5851C>T (p.His1951Tyr) n.6220C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340575_32340577delinsAA | CA023768 | BRCA2 | c.6220_6222delinsAA (p.His2074LysfsTer7) c.5851_5853delinsAA (p.His1951LysfsTer7) n.6220_6222delinsAA | ClinVar dbSNP |
13 | g.32340576A>C | CA387788870 | BRCA2 | c.6221A>C (p.His2074Pro) c.5852A>C (p.His1951Pro) n.6221A>C | dbSNP |
13 | g.32340576A>G | CA387788871 | BRCA2 | c.6221A>G (p.His2074Arg) c.5852A>G (p.His1951Arg) n.6221A>G | ClinVar dbSNP |
13 | g.32340576A>T | CA387788872 | BRCA2 | c.6221A>T (p.His2074Leu) c.5852A>T (p.His1951Leu) n.6221A>T | dbSNP |
13 | g.32340577C>A | CA387788873 | BRCA2 | c.6222C>A (p.His2074Gln) c.5853C>A (p.His1951Gln) n.6222C>A | dbSNP gnomAD v4 |
13 | g.32340577C= | CA2082811755 | BRCA2 | c.6222C= (p.His2074=) c.5853C= (p.His1951=) n.6222C= | |
13 | g.32340577C>G | CA387788874 | BRCA2 | c.6222C>G (p.His2074Gln) c.5853C>G (p.His1951Gln) n.6222C>G | ClinVar dbSNP |
13 | g.32340577C>T | CA483438692 | BRCA2 | c.6222C>T (p.His2074=) c.5853C>T (p.His1951=) n.6222C>T | dbSNP |
13 | g.32340577_32340583delinsCAAAGTT | CA2082811762 | BRCA2 | c.6222_6228delinsCAAAGTT (p.His2074=) c.5853_5859delinsCAAAGTT (p.His1951=) n.6222_6228delinsCAAAGTT | |
13 | g.32340578A= | CA2082811782 | BRCA2 | c.6223A= (p.Lys2075=) c.5854A= (p.Lys1952=) n.6223A= | |
13 | g.32340578A>C | CA387788875 | BRCA2 | c.6223A>C (p.Lys2075Gln) c.5854A>C (p.Lys1952Gln) n.6223A>C | |
13 | g.32340578A>G | CA387788876 | BRCA2 | c.6223A>G (p.Lys2075Glu) c.5854A>G (p.Lys1952Glu) n.6223A>G | dbSNP |
13 | g.32340578A>T | CA387788877 | BRCA2 | c.6223A>T (p.Lys2075Ter) c.5854A>T (p.Lys1952Ter) n.6223A>T | ClinVar dbSNP |
13 | g.32340580dup | CA10589360 | BRCA2 | c.6225dup (p.Val2076SerfsTer2) c.5856dup (p.Val1953SerfsTer2) n.6225dup | ClinVar dbSNP |
13 | g.32340579_32340580del | CA2499222225 | BRCA2 | c.6224_6225del (p.Lys2075SerfsTer2) c.5855_5856del (p.Lys1952SerfsTer2) n.6224_6225del | ClinVar |
13 | g.32340578_32340582del | CA2580087863 | BRCA2 | c.6223_6227del (p.Lys2075Ter) c.5854_5858del (p.Lys1952Ter) n.6223_6227del | ClinVar |
13 | g.32340580_32340585del | CA1139663232 | BRCA2 | c.6225_6230del (p.Val2076_Lys2077del) c.5856_5861del (p.Val1953_Lys1954del) n.6225_6230del | ClinVar dbSNP |
13 | g.32340579A= | CA2082811792 | BRCA2 | c.6224A= (p.Lys2075=) c.5855A= (p.Lys1952=) n.6224A= | |
13 | g.32340579A>C | CA387788880 | BRCA2 | c.6224A>C (p.Lys2075Thr) c.5855A>C (p.Lys1952Thr) n.6224A>C | |
13 | g.32340579A>G | CA387788879 | BRCA2 | c.6224A>G (p.Lys2075Arg) c.5855A>G (p.Lys1952Arg) n.6224A>G | ClinVar dbSNP |
13 | g.32340579A>T | CA387788878 | BRCA2 | c.6224A>T (p.Lys2075Ile) c.5855A>T (p.Lys1952Ile) n.6224A>T | dbSNP |