| 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.32339988_32340020del | CA2573053815 | BRCA2 | c.5633_5665del (p.Asn1878_Lys1888del) c.5264_5296del (p.Asn1755_Lys1765del) n.5633_5665del | ClinVar dbSNP |
| 13 | g.32339996_32339999del | CA022798 | BRCA2 | c.5641_5644del (p.Lys1881GlnfsTer27) c.5272_5275del (p.Lys1758GlnfsTer27) n.5641_5644del | ClinVar dbSNP |
| 13 | g.32339996_32340000delinsAAATC | CA2082825684 | BRCA2 | c.5641_5645delinsAAATC (p.Lys1881=) c.5272_5276delinsAAATC (p.Lys1758=) n.5641_5645delinsAAATC | |
| 13 | g.32339999_32340003del | CA2580614688 | BRCA2 | c.5644_5648del (p.Ser1882AsnfsTer16) c.5275_5279del (p.Ser1759AsnfsTer16) n.5644_5648del | |
| 13 | g.32339999_32340002del | CA022803 | BRCA2 | c.5644_5647del (p.Ser1882LysfsTer26) c.5275_5278del (p.Ser1759LysfsTer26) n.5644_5647del | ClinVar dbSNP |
| 13 | g.32339999T>A | CA387786152 | BRCA2 | c.5644T>A (p.Ser1882Thr) c.5275T>A (p.Ser1759Thr) n.5644T>A | dbSNP |
| 13 | g.32339999T>C | CA022814 | BRCA2 | c.5644T>C (p.Ser1882Pro) c.5275T>C (p.Ser1759Pro) n.5644T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339999T>G | CA387786151 | BRCA2 | c.5644T>G (p.Ser1882Ala) c.5275T>G (p.Ser1759Ala) n.5644T>G | dbSNP |
| 13 | g.32339999T= | CA2082825713 | BRCA2 | c.5644T= (p.Ser1882=) c.5275T= (p.Ser1759=) n.5644T= | |
| 13 | g.32340000C>A | CA022818 | BRCA2 | c.5645C>A (p.Ser1882Ter) c.5276C>A (p.Ser1759Ter) n.5645C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32340000C= | CA2082825727 | BRCA2 | c.5645C= (p.Ser1882=) c.5276C= (p.Ser1759=) n.5645C= | |
| 13 | g.32340000C>G | CA022825 | BRCA2 | c.5645C>G (p.Ser1882Ter) c.5276C>G (p.Ser1759Ter) n.5645C>G | ClinVar dbSNP |
| 13 | g.32340000C>T | CA387786153 | BRCA2 | c.5645C>T (p.Ser1882Leu) c.5276C>T (p.Ser1759Leu) n.5645C>T | |
| 13 | g.32340001A= | CA2082825749 | BRCA2 | c.5646A= (p.Ser1882=) c.5277A= (p.Ser1759=) n.5646A= | |
| 13 | g.32340001A>C | CA483438789 | BRCA2 | c.5646A>C (p.Ser1882=) c.5277A>C (p.Ser1759=) n.5646A>C | |
| 13 | g.32340001A>G | CA6940893 | BRCA2 | c.5646A>G (p.Ser1882=) c.5277A>G (p.Ser1759=) n.5646A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340001A>T | CA483438790 | BRCA2 | c.5646A>T (p.Ser1882=) c.5277A>T (p.Ser1759=) n.5646A>T | dbSNP |
| 13 | g.32340005dup | CA658823658 | BRCA2 | c.5650dup (p.Ile1884AsnfsTer16) c.5281dup (p.Ile1761AsnfsTer16) n.5650dup | ClinVar dbSNP |
| 13 | g.32340005del | CA2695217898 | BRCA2 | c.5650del (p.Ile1884PhefsTer25) c.5281del (p.Ile1761PhefsTer25) n.5650del | |
| 13 | g.32340003_32340005del | CA2580087627 | BRCA2 | c.5648_5650del (p.Lys1883del) c.5279_5281del (p.Lys1760del) n.5648_5650del | ClinVar |
| 13 | g.32340001_32340011delinsAAAAATTTGCC | CA2082825750 | BRCA2 | c.5646_5656delinsAAAAATTTGCC (p.Ser1882=) c.5277_5287delinsAAAAATTTGCC (p.Ser1759=) n.5646_5656delinsAAAAATTTGCC | |
| 13 | g.32340002A>C | CA387786154 | BRCA2 | c.5647A>C (p.Lys1883Gln) c.5278A>C (p.Lys1760Gln) n.5647A>C | dbSNP |
| 13 | g.32340002A>G | CA387786155 | BRCA2 | c.5647A>G (p.Lys1883Glu) c.5278A>G (p.Lys1760Glu) n.5647A>G | |
| 13 | g.32340002A>T | CA387786156 | BRCA2 | c.5647A>T (p.Lys1883Ter) c.5278A>T (p.Lys1760Ter) n.5647A>T | dbSNP |
| 13 | g.32340005_32340014del | CA022835 | BRCA2 | c.5650_5659del (p.Ile1884ArgfsTer22) c.5281_5290del (p.Ile1761ArgfsTer22) n.5650_5659del | ClinVar dbSNP |
| 13 | g.32340003A>C | CA387786157 | BRCA2 | c.5648A>C (p.Lys1883Thr) c.5279A>C (p.Lys1760Thr) n.5648A>C | |
| 13 | g.32340003A>G | CA387786158 | BRCA2 | c.5648A>G (p.Lys1883Arg) c.5279A>G (p.Lys1760Arg) n.5648A>G | |
| 13 | g.32340003A>T | CA387786159 | BRCA2 | c.5648A>T (p.Lys1883Ile) c.5279A>T (p.Lys1760Ile) n.5648A>T | |
| 13 | g.32340004A= | CA2082825770 | BRCA2 | c.5649A= (p.Lys1883=) c.5280A= (p.Lys1760=) n.5649A= | |
| 13 | g.32340004A>C | CA022832 | BRCA2 | c.5649A>C (p.Lys1883Asn) c.5280A>C (p.Lys1760Asn) n.5649A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340004A>G | CA483438791 | BRCA2 | c.5649A>G (p.Lys1883=) c.5280A>G (p.Lys1760=) n.5649A>G | dbSNP |
| 13 | g.32340004A>T | CA387786160 | BRCA2 | c.5649A>T (p.Lys1883Asn) c.5280A>T (p.Lys1760Asn) n.5649A>T | |
| 13 | g.32340005A= | CA2082825781 | BRCA2 | c.5650A= (p.Ile1884=) c.5281A= (p.Ile1761=) n.5650A= | |
| 13 | g.32340005A>C | CA387786161 | BRCA2 | c.5650A>C (p.Ile1884Leu) c.5281A>C (p.Ile1761Leu) n.5650A>C | dbSNP |
| 13 | g.32340005A>G | CA022846 | BRCA2 | c.5650A>G (p.Ile1884Val) c.5281A>G (p.Ile1761Val) n.5650A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340005A>T | CA022850 | BRCA2 | c.5650A>T (p.Ile1884Phe) c.5281A>T (p.Ile1761Phe) n.5650A>T | ClinVar dbSNP |
| 13 | g.32340005_32340006delinsAT | CA2082825782 | BRCA2 | c.5650_5651delinsAT (p.Ile1884=) c.5281_5282delinsAT (p.Ile1761=) n.5650_5651delinsAT | |
| 13 | g.32340006T>A | CA387786163 | BRCA2 | c.5651T>A (p.Ile1884Asn) c.5282T>A (p.Ile1761Asn) n.5651T>A | dbSNP |
| 13 | g.32340006T>C | CA022855 | BRCA2 | c.5651T>C (p.Ile1884Thr) c.5282T>C (p.Ile1761Thr) n.5651T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340006T>G | CA387786162 | BRCA2 | c.5651T>G (p.Ile1884Ser) c.5282T>G (p.Ile1761Ser) n.5651T>G | ClinVar dbSNP |
| 13 | g.32340006T= | CA2082825804 | BRCA2 | c.5651T= (p.Ile1884=) c.5282T= (p.Ile1761=) n.5651T= | |
| 13 | g.32340008dup | CA10589324 | BRCA2 | c.5653dup (p.Cys1885LeufsTer15) c.5284dup (p.Cys1762LeufsTer15) n.5653dup | ClinVar dbSNP |
| 13 | g.32340008del | CA16614178 | BRCA2 | c.5653del (p.Cys1885AlafsTer24) c.5284del (p.Cys1762AlafsTer24) n.5653del | ClinVar dbSNP |
| 13 | g.32340006_32340007insA | CA10589323 | BRCA2 | c.5651_5652insA (p.Cys1885LeufsTer15) c.5282_5283insA (p.Cys1762LeufsTer15) n.5651_5652insA | ClinVar dbSNP |
| 13 | g.32340007T>A | CA483438792 | BRCA2 | c.5652T>A (p.Ile1884=) c.5283T>A (p.Ile1761=) n.5652T>A | dbSNP |
| 13 | g.32340007T>C | CA022860 | BRCA2 | c.5652T>C (p.Ile1884=) c.5283T>C (p.Ile1761=) n.5652T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340007T>G | CA387786164 | BRCA2 | c.5652T>G (p.Ile1884Met) c.5283T>G (p.Ile1761Met) n.5652T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |