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.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 |
13 | g.32340534C>A | CA387788388 | BRCA2 | c.6179C>A (p.Thr2060Lys) c.5810C>A (p.Thr1937Lys) n.6179C>A | ClinVar dbSNP |
13 | g.32340534C= | CA2082811250 | BRCA2 | c.6179C= (p.Thr2060=) c.5810C= (p.Thr1937=) n.6179C= | |
13 | g.32340534C>G | CA387788389 | BRCA2 | c.6179C>G (p.Thr2060Arg) c.5810C>G (p.Thr1937Arg) n.6179C>G | dbSNP |
13 | g.32340534C>T | CA387788391 | BRCA2 | c.6179C>T (p.Thr2060Ile) c.5810C>T (p.Thr1937Ile) n.6179C>T | ClinVar dbSNP |
13 | g.32340534_32340545delinsCAGCAAGTGGAA | CA2082811240 | BRCA2 | c.6179_6190delinsCAGCAAGTGGAA (p.Thr2060=) c.5810_5821delinsCAGCAAGTGGAA (p.Thr1937=) n.6179_6190delinsCAGCAAGTGGAA | |
13 | g.32340535A= | CA2082811258 | BRCA2 | c.6180A= (p.Thr2060=) c.5811A= (p.Thr1937=) n.6180A= | |
13 | g.32340535A>C | CA483439315 | BRCA2 | c.6180A>C (p.Thr2060=) c.5811A>C (p.Thr1937=) n.6180A>C | |
13 | g.32340535A>G | CA483439316 | BRCA2 | c.6180A>G (p.Thr2060=) c.5811A>G (p.Thr1937=) n.6180A>G | ClinVar dbSNP |
13 | g.32340535A>T | CA483439317 | BRCA2 | c.6180A>T (p.Thr2060=) c.5811A>T (p.Thr1937=) n.6180A>T | ClinVar dbSNP |
13 | g.32340542_32340552del | CA658656418 | BRCA2 | c.6187_6197del (p.Gly2063PhefsTer11) c.5818_5828del (p.Gly1940PhefsTer11) n.6187_6197del | ClinVar dbSNP |
13 | g.32340536G>A | CA387788393 | BRCA2 | c.6181G>A (p.Ala2061Thr) c.5812G>A (p.Ala1938Thr) n.6181G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340536G>C | CA387788395 | BRCA2 | c.6181G>C (p.Ala2061Pro) c.5812G>C (p.Ala1938Pro) n.6181G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340536G= | CA2082811273 | BRCA2 | c.6181G= (p.Ala2061=) c.5812G= (p.Ala1938=) n.6181G= |