| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339776_32340004delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | CA2082823130 | BRCA2 | c.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1807=) c.5052_5280delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1684=) n.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | |
| 13 | g.32339783_32340010del | CA1139663219 | BRCA2 | c.5428_5655del (p.Val1810_Cys1885del) c.5059_5286del (p.Val1687_Cys1762del) n.5428_5655del | ClinVar dbSNP |
| 13 | g.32339837_32339841del | CA022418 | BRCA2 | c.5482_5486del (p.Lys1828ValfsTer4) c.5113_5117del (p.Lys1705ValfsTer4) n.5482_5486del | ClinVar dbSNP |
| 13 | g.32339841del | CA10586541 | BRCA2 | c.5486del (p.Leu1829CysfsTer11) c.5117del (p.Leu1706CysfsTer11) n.5486del | ClinVar dbSNP |
| 13 | g.32339840_32339842delinsTTG | CA2082823809 | BRCA2 | c.5485_5487delinsTTG (p.Leu1829=) c.5116_5118delinsTTG (p.Leu1706=) n.5485_5487delinsTTG | |
| 13 | g.32339841T>A | CA387785743 | BRCA2 | c.5486T>A (p.Leu1829Ter) c.5117T>A (p.Leu1706Ter) n.5486T>A | ClinVar dbSNP |
| 13 | g.32339841T>C | CA387785739 | BRCA2 | c.5486T>C (p.Leu1829Ser) c.5117T>C (p.Leu1706Ser) n.5486T>C | ClinVar dbSNP |
| 13 | g.32339841T>G | CA387785741 | BRCA2 | c.5486T>G (p.Leu1829Trp) c.5117T>G (p.Leu1706Trp) n.5486T>G | |
| 13 | g.32339841T= | CA2082823819 | BRCA2 | c.5486T= (p.Leu1829=) c.5117T= (p.Leu1706=) n.5486T= | |
| 13 | g.32339842_32339843del | CA16042141 | BRCA2 | c.5487_5488del (p.Leu1829PhefsTer4) c.5118_5119del (p.Leu1706PhefsTer4) n.5487_5488del | ClinVar dbSNP |
| 13 | g.32339842G>A | CA483438485 | BRCA2 | c.5487G>A (p.Leu1829=) c.5118G>A (p.Leu1706=) n.5487G>A | ClinVar dbSNP |
| 13 | g.32339842G>C | CA387785744 | BRCA2 | c.5487G>C (p.Leu1829Phe) c.5118G>C (p.Leu1706Phe) n.5487G>C | ClinVar dbSNP |
| 13 | g.32339842G= | CA2082823832 | BRCA2 | c.5487G= (p.Leu1829=) c.5118G= (p.Leu1706=) n.5487G= | |
| 13 | g.32339842G>T | CA6940879 | BRCA2 | c.5487G>T (p.Leu1829Phe) c.5118G>T (p.Leu1706Phe) n.5487G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339842dup | CA2695217892 | BRCA2 | c.5487dup (p.Ser1830ValfsTer4) c.5118dup (p.Ser1707ValfsTer4) n.5487dup | |
| 13 | g.32339843T>A | CA387785746 | BRCA2 | c.5488T>A (p.Ser1830Thr) c.5119T>A (p.Ser1707Thr) n.5488T>A | |
| 13 | g.32339843T>C | CA387785748 | BRCA2 | c.5488T>C (p.Ser1830Pro) c.5119T>C (p.Ser1707Pro) n.5488T>C | |
| 13 | g.32339843T>G | CA387785750 | BRCA2 | c.5488T>G (p.Ser1830Ala) c.5119T>G (p.Ser1707Ala) n.5488T>G | |
| 13 | g.32339844C>A | CA387785752 | BRCA2 | c.5489C>A (p.Ser1830Tyr) c.5120C>A (p.Ser1707Tyr) n.5489C>A | dbSNP |
| 13 | g.32339844C= | CA2082823841 | BRCA2 | c.5489C= (p.Ser1830=) c.5120C= (p.Ser1707=) n.5489C= | |
| 13 | g.32339844C>G | CA387785753 | BRCA2 | c.5489C>G (p.Ser1830Cys) c.5120C>G (p.Ser1707Cys) n.5489C>G | ClinVar dbSNP |
| 13 | g.32339844C>T | CA387785755 | BRCA2 | c.5489C>T (p.Ser1830Phe) c.5120C>T (p.Ser1707Phe) n.5489C>T | ClinVar dbSNP |
| 13 | g.32339845C>A | CA483438488 | BRCA2 | c.5490C>A (p.Ser1830=) c.5121C>A (p.Ser1707=) n.5490C>A | dbSNP |
| 13 | g.32339845C= | CA2082823858 | BRCA2 | c.5490C= (p.Ser1830=) c.5121C= (p.Ser1707=) n.5490C= | |
| 13 | g.32339845C>G | CA483438489 | BRCA2 | c.5490C>G (p.Ser1830=) c.5121C>G (p.Ser1707=) n.5490C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339845C>T | CA022426 | BRCA2 | c.5490C>T (p.Ser1830=) c.5121C>T (p.Ser1707=) n.5490C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339846A= | CA2082823871 | BRCA2 | c.5491A= (p.Ile1831=) c.5122A= (p.Ile1708=) n.5491A= | |
| 13 | g.32339846A>C | CA387785758 | BRCA2 | c.5491A>C (p.Ile1831Leu) c.5122A>C (p.Ile1708Leu) n.5491A>C | ClinVar dbSNP |
| 13 | g.32339846A>G | CA387785762 | BRCA2 | c.5491A>G (p.Ile1831Val) c.5122A>G (p.Ile1708Val) n.5491A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339846A>T | CA387785760 | BRCA2 | c.5491A>T (p.Ile1831Leu) c.5122A>T (p.Ile1708Leu) n.5491A>T | ClinVar dbSNP |
| 13 | g.32339847T>A | CA387785763 | BRCA2 | c.5492T>A (p.Ile1831Lys) c.5123T>A (p.Ile1708Lys) n.5492T>A | |
| 13 | g.32339847T>C | CA022439 | BRCA2 | c.5492T>C (p.Ile1831Thr) c.5123T>C (p.Ile1708Thr) n.5492T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339847T>G | CA387785765 | BRCA2 | c.5492T>G (p.Ile1831Arg) c.5123T>G (p.Ile1708Arg) n.5492T>G | |
| 13 | g.32339847T= | CA2082823889 | BRCA2 | c.5492T= (p.Ile1831=) c.5123T= (p.Ile1708=) n.5492T= | |
| 13 | g.32339847dup | CA022431 | BRCA2 | c.5492dup (p.Ser1832IlefsTer2) c.5123dup (p.Ser1709IlefsTer2) n.5492dup | ClinVar dbSNP |
| 13 | g.32339848A= | CA2082823895 | BRCA2 | c.5493A= (p.Ile1831=) c.5124A= (p.Ile1708=) n.5493A= | |
| 13 | g.32339848A>C | CA483438492 | BRCA2 | c.5493A>C (p.Ile1831=) c.5124A>C (p.Ile1708=) n.5493A>C | |
| 13 | g.32339848A>G | CA387785768 | BRCA2 | c.5493A>G (p.Ile1831Met) c.5124A>G (p.Ile1708Met) n.5493A>G | ClinVar dbSNP |
| 13 | g.32339848A>T | CA483438493 | BRCA2 | c.5493A>T (p.Ile1831=) c.5124A>T (p.Ile1708=) n.5493A>T | dbSNP |
| 13 | g.32339849T>A | CA387785771 | BRCA2 | c.5494T>A (p.Ser1832Thr) c.5125T>A (p.Ser1709Thr) n.5494T>A | dbSNP |
| 13 | g.32339849T>C | CA387785769 | BRCA2 | c.5494T>C (p.Ser1832Pro) c.5125T>C (p.Ser1709Pro) n.5494T>C | ClinVar dbSNP |
| 13 | g.32339849T>G | CA387785770 | BRCA2 | c.5494T>G (p.Ser1832Ala) c.5125T>G (p.Ser1709Ala) n.5494T>G | |
| 13 | g.32339849T= | CA2082823905 | BRCA2 | c.5494T= (p.Ser1832=) c.5125T= (p.Ser1709=) n.5494T= | |
| 13 | g.32339849_32339850delinsTC | CA2082823908 | BRCA2 | c.5494_5495delinsTC (p.Ser1832=) c.5125_5126delinsTC (p.Ser1709=) n.5494_5495delinsTC | |
| 13 | g.32339850del | CA919242530 | BRCA2 | c.5495del (p.Ser1832LeufsTer8) c.5126del (p.Ser1709LeufsTer8) n.5495del | dbSNP |
| 13 | g.32339850C>A | CA022441 | BRCA2 | c.5495C>A (p.Ser1832Tyr) c.5126C>A (p.Ser1709Tyr) n.5495C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339850C= | CA2082823919 | BRCA2 | c.5495C= (p.Ser1832=) c.5126C= (p.Ser1709=) n.5495C= | |
| 13 | g.32339850C>G | CA022446 | BRCA2 | c.5495C>G (p.Ser1832Cys) c.5126C>G (p.Ser1709Cys) n.5495C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339850C>T | CA387785775 | BRCA2 | c.5495C>T (p.Ser1832Phe) c.5126C>T (p.Ser1709Phe) n.5495C>T | dbSNP |