| 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.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 | ClinVar 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 | ClinVar dbSNP |
| 13 | g.32339851T>A | CA483438495 | BRCA2 | c.5496T>A (p.Ser1832=) c.5127T>A (p.Ser1709=) n.5496T>A | |
| 13 | g.32339851T>C | CA483438496 | BRCA2 | c.5496T>C (p.Ser1832=) c.5127T>C (p.Ser1709=) n.5496T>C | |
| 13 | g.32339851T>G | CA483438497 | BRCA2 | c.5496T>G (p.Ser1832=) c.5127T>G (p.Ser1709=) n.5496T>G | |
| 13 | g.32339851dup | CA198047 | BRCA2 | c.5496dup (p.Asn1833Ter) c.5127dup (p.Asn1710Ter) n.5496dup | ClinVar dbSNP |
| 13 | g.32339851_32339852delinsTA | CA2082823937 | BRCA2 | c.5496_5497delinsTA (p.Ser1832=) c.5127_5128delinsTA (p.Ser1709=) n.5496_5497delinsTA | |
| 13 | g.32339852A= | CA2082823945 | BRCA2 | c.5497A= (p.Asn1833=) c.5128A= (p.Asn1710=) n.5497A= | |
| 13 | g.32339852A>C | CA387785777 | BRCA2 | c.5497A>C (p.Asn1833His) c.5128A>C (p.Asn1710His) n.5497A>C | |
| 13 | g.32339852A>G | CA387785779 | BRCA2 | c.5497A>G (p.Asn1833Asp) c.5128A>G (p.Asn1710Asp) n.5497A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339852A>T | CA387785781 | BRCA2 | c.5497A>T (p.Asn1833Tyr) c.5128A>T (p.Asn1710Tyr) n.5497A>T | dbSNP |
| 13 | g.32339853del | CA022455 | BRCA2 | c.5498del (p.Asn1833IlefsTer7) c.5129del (p.Asn1710IlefsTer7) n.5498del | ClinVar dbSNP |
| 13 | g.32339853A= | CA2082823957 | BRCA2 | c.5498A= (p.Asn1833=) c.5129A= (p.Asn1710=) n.5498A= | |
| 13 | g.32339853A>C | CA387785784 | BRCA2 | c.5498A>C (p.Asn1833Thr) c.5129A>C (p.Asn1710Thr) n.5498A>C | |
| 13 | g.32339853A>G | CA022451 | BRCA2 | c.5498A>G (p.Asn1833Ser) c.5129A>G (p.Asn1710Ser) n.5498A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339853A>T | CA387785786 | BRCA2 | c.5498A>T (p.Asn1833Ile) c.5129A>T (p.Asn1710Ile) n.5498A>T | dbSNP |
| 13 | g.32339854T>A | CA387785788 | BRCA2 | c.5499T>A (p.Asn1833Lys) c.5130T>A (p.Asn1710Lys) n.5499T>A | dbSNP |
| 13 | g.32339854T>C | CA483438503 | BRCA2 | c.5499T>C (p.Asn1833=) c.5130T>C (p.Asn1710=) n.5499T>C | ClinVar dbSNP |
| 13 | g.32339854T>G | CA387785790 | BRCA2 | c.5499T>G (p.Asn1833Lys) c.5130T>G (p.Asn1710Lys) n.5499T>G | dbSNP gnomAD v4 |
| 13 | g.32339854T= | CA2082823967 | BRCA2 | c.5499T= (p.Asn1833=) c.5130T= (p.Asn1710=) n.5499T= | |
| 13 | g.32339856_32339858del | CA2695217893 | BRCA2 | c.5501_5503del (p.Ser1834del) c.5132_5134del (p.Ser1711del) n.5501_5503del | |
| 13 | g.32339855A= | CA2082823976 | BRCA2 | c.5500A= (p.Ser1834=) c.5131A= (p.Ser1711=) n.5500A= | |
| 13 | g.32339855A>C | CA387785793 | BRCA2 | c.5500A>C (p.Ser1834Arg) c.5131A>C (p.Ser1711Arg) n.5500A>C | COSMIC COSMIC |
| 13 | g.32339855A>G | CA6940880 | BRCA2 | c.5500A>G (p.Ser1834Gly) c.5131A>G (p.Ser1711Gly) n.5500A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339855A>T | CA387785794 | BRCA2 | c.5500A>T (p.Ser1834Cys) c.5131A>T (p.Ser1711Cys) n.5500A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339855_32339856del | CA2580087598 | BRCA2 | c.5500_5501del (p.Ser1834Ter) c.5131_5132del (p.Ser1711Ter) n.5500_5501del | ClinVar |
| 13 | g.32339856_32339859del | CA2580087599 | BRCA2 | c.5501_5504del (p.Ser1834IlefsTer5) c.5132_5135del (p.Ser1711IlefsTer5) n.5501_5504del | ClinVar |
| 13 | g.32339856G>A | CA387785797 | BRCA2 | c.5501G>A (p.Ser1834Asn) c.5132G>A (p.Ser1711Asn) n.5501G>A | dbSNP |
| 13 | g.32339856G>C | CA387785798 | BRCA2 | c.5501G>C (p.Ser1834Thr) c.5132G>C (p.Ser1711Thr) n.5501G>C | |
| 13 | g.32339856G>T | CA387785800 | BRCA2 | c.5501G>T (p.Ser1834Ile) c.5132G>T (p.Ser1711Ile) n.5501G>T | gnomAD v4 |
| 13 | g.32339856_32339859delinsGTAA | CA2082823981 | BRCA2 | c.5501_5504delinsGTAA (p.Ser1834=) c.5132_5135delinsGTAA (p.Ser1711=) n.5501_5504delinsGTAA | |
| 13 | g.32339857T>A | CA387785802 | BRCA2 | c.5502T>A (p.Ser1834Arg) c.5133T>A (p.Ser1711Arg) n.5502T>A | ClinVar dbSNP |
| 13 | g.32339857T>C | CA483438505 | BRCA2 | c.5502T>C (p.Ser1834=) c.5133T>C (p.Ser1711=) n.5502T>C | |
| 13 | g.32339857T>G | CA387785804 | BRCA2 | c.5502T>G (p.Ser1834Arg) c.5133T>G (p.Ser1711Arg) n.5502T>G | |
| 13 | g.32339857T= | CA2082824005 | BRCA2 | c.5502T= (p.Ser1834=) c.5133T= (p.Ser1711=) n.5502T= |