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.32340523T>A | CA483439291 | BRCA2 | c.6168T>A (p.Ser2056=) c.5799T>A (p.Ser1933=) n.6168T>A | |
13 | g.32340523T>C | CA16613900 | BRCA2 | c.6168T>C (p.Ser2056=) c.5799T>C (p.Ser1933=) n.6168T>C | ClinVar dbSNP |
13 | g.32340523T>G | CA483439292 | BRCA2 | c.6168T>G (p.Ser2056=) c.5799T>G (p.Ser1933=) n.6168T>G | |
13 | g.32340523T= | CA2082811143 | BRCA2 | c.6168T= (p.Ser2056=) c.5799T= (p.Ser1933=) n.6168T= | |
13 | g.32340524G>A | CA387788354 | BRCA2 | c.6169G>A (p.Gly2057Arg) c.5800G>A (p.Gly1934Arg) n.6169G>A | ClinVar dbSNP |
13 | g.32340524G>C | CA387788351 | BRCA2 | c.6169G>C (p.Gly2057Arg) c.5800G>C (p.Gly1934Arg) n.6169G>C | |
13 | g.32340524G= | CA2082811153 | BRCA2 | c.6169G= (p.Gly2057=) c.5800G= (p.Gly1934=) n.6169G= | |
13 | g.32340524G>T | CA023712 | BRCA2 | c.6169G>T (p.Gly2057Ter) c.5800G>T (p.Gly1934Ter) n.6169G>T | ClinVar dbSNP |
13 | g.32340525del | CA2580087791 | BRCA2 | c.6170del (p.Gly2057AspfsTer13) c.5801del (p.Gly1934AspfsTer13) n.6170del | ClinVar |
13 | g.32340525G>A | CA387788356 | BRCA2 | c.6170G>A (p.Gly2057Glu) c.5801G>A (p.Gly1934Glu) n.6170G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340525G>C | CA387788357 | BRCA2 | c.6170G>C (p.Gly2057Ala) c.5801G>C (p.Gly1934Ala) n.6170G>C | dbSNP |
13 | g.32340525G= | CA2082811168 | BRCA2 | c.6170G= (p.Gly2057=) c.5801G= (p.Gly1934=) n.6170G= | |
13 | g.32340525G>T | CA10579682 | BRCA2 | c.6170G>T (p.Gly2057Val) c.5801G>T (p.Gly1934Val) n.6170G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340526A= | CA2082811173 | BRCA2 | c.6171A= (p.Gly2057=) c.5802A= (p.Gly1934=) n.6171A= | |
13 | g.32340526A>C | CA483439298 | BRCA2 | c.6171A>C (p.Gly2057=) c.5802A>C (p.Gly1934=) n.6171A>C | ClinVar |
13 | g.32340526A>G | CA483439299 | BRCA2 | c.6171A>G (p.Gly2057=) c.5802A>G (p.Gly1934=) n.6171A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340526A>T | CA483439302 | BRCA2 | c.6171A>T (p.Gly2057=) c.5802A>T (p.Gly1934=) n.6171A>T | ClinVar |
13 | g.32340526_32340527delinsAT | CA2082811175 | BRCA2 | c.6171_6172delinsAT (p.Gly2057=) c.5802_5803delinsAT (p.Gly1934=) n.6171_6172delinsAT | |
13 | g.32340527T>A | CA023714 | BRCA2 | c.6172T>A (p.Phe2058Ile) c.5803T>A (p.Phe1935Ile) n.6172T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340527T>C | CA387788360 | BRCA2 | c.6172T>C (p.Phe2058Leu) c.5803T>C (p.Phe1935Leu) n.6172T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340527T>G | CA387788362 | BRCA2 | c.6172T>G (p.Phe2058Val) c.5803T>G (p.Phe1935Val) n.6172T>G | dbSNP |
13 | g.32340527T= | CA2082811187 | BRCA2 | c.6172T= (p.Phe2058=) c.5803T= (p.Phe1935=) n.6172T= | |
13 | g.32340529del | CA023718 | BRCA2 | c.6174del (p.Phe2058LeufsTer12) c.5805del (p.Phe1935LeufsTer12) n.6174del | ClinVar dbSNP |
13 | g.32340528T>A | CA247512675 | BRCA2 | c.6173T>A (p.Phe2058Tyr) c.5804T>A (p.Phe1935Tyr) n.6173T>A | dbSNP gnomAD v4 |
13 | g.32340528T>C | CA387788366 | BRCA2 | c.6173T>C (p.Phe2058Ser) c.5804T>C (p.Phe1935Ser) n.6173T>C | |
13 | g.32340528T>G | CA023716 | BRCA2 | c.6173T>G (p.Phe2058Cys) c.5804T>G (p.Phe1935Cys) n.6173T>G | ClinVar dbSNP |
13 | g.32340528T= | CA2082811201 | BRCA2 | c.6173T= (p.Phe2058=) c.5804T= (p.Phe1935=) n.6173T= | |
13 | g.32340529T>A | CA387788368 | BRCA2 | c.6174T>A (p.Phe2058Leu) c.5805T>A (p.Phe1935Leu) n.6174T>A | dbSNP |
13 | g.32340529T>C | CA483439308 | BRCA2 | c.6174T>C (p.Phe2058=) c.5805T>C (p.Phe1935=) n.6174T>C | |
13 | g.32340529T>G | CA387788369 | BRCA2 | c.6174T>G (p.Phe2058Leu) c.5805T>G (p.Phe1935Leu) n.6174T>G | |
13 | g.32340530A>C | CA387788373 | BRCA2 | c.6175A>C (p.Ser2059Arg) c.5806A>C (p.Ser1936Arg) n.6175A>C | dbSNP |
13 | g.32340530A>G | CA387788371 | BRCA2 | c.6175A>G (p.Ser2059Gly) c.5806A>G (p.Ser1936Gly) n.6175A>G | dbSNP |
13 | g.32340530A>T | CA387788370 | BRCA2 | c.6175A>T (p.Ser2059Cys) c.5806A>T (p.Ser1936Cys) n.6175A>T | dbSNP |
13 | g.32340531G>A | CA023720 | BRCA2 | c.6176G>A (p.Ser2059Asn) c.5807G>A (p.Ser1936Asn) n.6176G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340531G>C | CA387788375 | BRCA2 | c.6176G>C (p.Ser2059Thr) c.5807G>C (p.Ser1936Thr) n.6176G>C | dbSNP |
13 | g.32340531G= | CA2082811211 | BRCA2 | c.6176G= (p.Ser2059=) c.5807G= (p.Ser1936=) n.6176G= | |
13 | g.32340531G>T | CA387788377 | BRCA2 | c.6176G>T (p.Ser2059Ile) c.5807G>T (p.Ser1936Ile) n.6176G>T | dbSNP |
13 | g.32340532del | CA2622599607 | BRCA2 | c.6177del (p.Ser2059ArgfsTer11) c.5808del (p.Ser1936ArgfsTer11) n.6177del | gnomAD v4 |
13 | g.32340532T>A | CA387788379 | BRCA2 | c.6177T>A (p.Ser2059Arg) c.5808T>A (p.Ser1936Arg) n.6177T>A | dbSNP |
13 | g.32340532T>C | CA483439310 | BRCA2 | c.6177T>C (p.Ser2059=) c.5808T>C (p.Ser1936=) n.6177T>C | ClinVar dbSNP |
13 | g.32340532T>G | CA387788381 | BRCA2 | c.6177T>G (p.Ser2059Arg) c.5808T>G (p.Ser1936Arg) n.6177T>G | |
13 | g.32340532T= | CA2082811226 | BRCA2 | c.6177T= (p.Ser2059=) c.5808T= (p.Ser1936=) n.6177T= | |
13 | g.32340532_32340533delinsTA | CA2082811220 | BRCA2 | c.6177_6178delinsTA (p.Ser2059=) c.5808_5809delinsTA (p.Ser1936=) n.6177_6178delinsTA | |
13 | g.32340533del | CA023722 | BRCA2 | c.6178del (p.Thr2060GlnfsTer10) c.5809del (p.Thr1937GlnfsTer10) n.6178del | ClinVar dbSNP |
13 | g.32340533A>C | CA387788382 | BRCA2 | c.6178A>C (p.Thr2060Pro) c.5809A>C (p.Thr1937Pro) n.6178A>C | dbSNP |
13 | g.32340533A>G | CA387788384 | BRCA2 | c.6178A>G (p.Thr2060Ala) c.5809A>G (p.Thr1937Ala) n.6178A>G | dbSNP |
13 | g.32340533A>T | CA387788385 | BRCA2 | c.6178A>T (p.Thr2060Ser) c.5809A>T (p.Thr1937Ser) n.6178A>T | dbSNP |