| 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.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= | |
| 13 | g.32340536G>T | CA387788396 | BRCA2 | c.6181G>T (p.Ala2061Ser) c.5812G>T (p.Ala1938Ser) n.6181G>T | dbSNP |
| 13 | g.32340537C>A | CA387788402 | BRCA2 | c.6182C>A (p.Ala2061Glu) c.5813C>A (p.Ala1938Glu) n.6182C>A | ClinVar dbSNP |
| 13 | g.32340537C= | CA2082811284 | BRCA2 | c.6182C= (p.Ala2061=) c.5813C= (p.Ala1938=) n.6182C= | |
| 13 | g.32340537C>G | CA387788398 | BRCA2 | c.6182C>G (p.Ala2061Gly) c.5813C>G (p.Ala1938Gly) n.6182C>G | dbSNP |
| 13 | g.32340537C>T | CA387788400 | BRCA2 | c.6182C>T (p.Ala2061Val) c.5813C>T (p.Ala1938Val) n.6182C>T | ClinVar dbSNP |
| 13 | g.32340537dup | CA2573149411 | BRCA2 | c.6182dup (p.Ser2062LysfsTer16) c.5813dup (p.Ser1939LysfsTer16) n.6182dup | ClinVar dbSNP |
| 13 | g.32340538A>C | CA483439320 | BRCA2 | c.6183A>C (p.Ala2061=) c.5814A>C (p.Ala1938=) n.6183A>C | |
| 13 | g.32340538A>G | CA483439321 | BRCA2 | c.6183A>G (p.Ala2061=) c.5814A>G (p.Ala1938=) n.6183A>G | |
| 13 | g.32340538A>T | CA483439323 | BRCA2 | c.6183A>T (p.Ala2061=) c.5814A>T (p.Ala1938=) n.6183A>T | dbSNP |
| 13 | g.32340539A>C | CA387788404 | BRCA2 | c.6184A>C (p.Ser2062Arg) c.5815A>C (p.Ser1939Arg) n.6184A>C | |
| 13 | g.32340539A>G | CA387788406 | BRCA2 | c.6184A>G (p.Ser2062Gly) c.5815A>G (p.Ser1939Gly) n.6184A>G | |
| 13 | g.32340539A>T | CA387788407 | BRCA2 | c.6184A>T (p.Ser2062Cys) c.5815A>T (p.Ser1939Cys) n.6184A>T | dbSNP |
| 13 | g.32340540G>A | CA6940932 | BRCA2 | c.6185G>A (p.Ser2062Asn) c.5816G>A (p.Ser1939Asn) n.6185G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340540G>C | CA387788409 | BRCA2 | c.6185G>C (p.Ser2062Thr) c.5816G>C (p.Ser1939Thr) n.6185G>C | dbSNP |
| 13 | g.32340540G= | CA2082811291 | BRCA2 | c.6185G= (p.Ser2062=) c.5816G= (p.Ser1939=) n.6185G= | |
| 13 | g.32340540G>T | CA387788411 | BRCA2 | c.6185G>T (p.Ser2062Ile) c.5816G>T (p.Ser1939Ile) n.6185G>T | |
| 13 | g.32340541T>A | CA387788412 | BRCA2 | c.6186T>A (p.Ser2062Arg) c.5817T>A (p.Ser1939Arg) n.6186T>A | ClinVar dbSNP gnomAD v4 |