| 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.32339792_32339793delinsCT | CA2082823302 | BRCA2 | c.5437_5438delinsCT (p.Leu1813=) c.5068_5069delinsCT (p.Leu1690=) n.5437_5438delinsCT | |
| 13 | g.32339793T>A | CA387785518 | BRCA2 | c.5438T>A (p.Leu1813His) c.5069T>A (p.Leu1690His) n.5438T>A | dbSNP |
| 13 | g.32339793T>C | CA022330 | BRCA2 | c.5438T>C (p.Leu1813Pro) c.5069T>C (p.Leu1690Pro) n.5438T>C | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32339793T>G | CA387785522 | BRCA2 | c.5438T>G (p.Leu1813Arg) c.5069T>G (p.Leu1690Arg) n.5438T>G | |
| 13 | g.32339793T= | CA2082823319 | BRCA2 | c.5438T= (p.Leu1813=) c.5069T= (p.Leu1690=) n.5438T= | |
| 13 | g.32339794dup | CA2499222197 | BRCA2 | c.5439dup (p.Val1814CysfsTer3) c.5070dup (p.Val1691CysfsTer3) n.5439dup | |
| 13 | g.32339794del | CA022334 | BRCA2 | c.5439del (p.Val1814Ter) c.5070del (p.Val1691Ter) n.5439del | ClinVar dbSNP |
| 13 | g.32339794T>A | CA483438406 | BRCA2 | c.5439T>A (p.Leu1813=) c.5070T>A (p.Leu1690=) n.5439T>A | |
| 13 | g.32339794T>C | CA483438407 | BRCA2 | c.5439T>C (p.Leu1813=) c.5070T>C (p.Leu1690=) n.5439T>C | ClinVar dbSNP |
| 13 | g.32339794T>G | CA483438408 | BRCA2 | c.5439T>G (p.Leu1813=) c.5070T>G (p.Leu1690=) n.5439T>G | |
| 13 | g.32339795G>A | CA387785527 | BRCA2 | c.5440G>A (p.Val1814Met) c.5071G>A (p.Val1691Met) n.5440G>A | dbSNP |
| 13 | g.32339795G>C | CA387785530 | BRCA2 | c.5440G>C (p.Val1814Leu) c.5071G>C (p.Val1691Leu) n.5440G>C | dbSNP |
| 13 | g.32339795G= | CA2082823331 | BRCA2 | c.5440G= (p.Val1814=) c.5071G= (p.Val1691=) n.5440G= | |
| 13 | g.32339795G>T | CA387785528 | BRCA2 | c.5440G>T (p.Val1814Leu) c.5071G>T (p.Val1691Leu) n.5440G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339796T>A | CA387785532 | BRCA2 | c.5441T>A (p.Val1814Glu) c.5072T>A (p.Val1691Glu) n.5441T>A | dbSNP |
| 13 | g.32339796T>C | CA387785535 | BRCA2 | c.5441T>C (p.Val1814Ala) c.5072T>C (p.Val1691Ala) n.5441T>C | |
| 13 | g.32339796T>G | CA387785541 | BRCA2 | c.5441T>G (p.Val1814Gly) c.5072T>G (p.Val1691Gly) n.5441T>G | dbSNP |
| 13 | g.32339797_32339800dup | CA10589313 | BRCA2 | c.5442_5445dup (p.Ser1816AspfsTer2) c.5073_5076dup (p.Ser1693AspfsTer2) n.5442_5445dup | ClinVar dbSNP |
| 13 | g.32339797G>A | CA483438411 | BRCA2 | c.5442G>A (p.Val1814=) c.5073G>A (p.Val1691=) n.5442G>A | ClinVar dbSNP |
| 13 | g.32339797G>C | CA483438412 | BRCA2 | c.5442G>C (p.Val1814=) c.5073G>C (p.Val1691=) n.5442G>C | ClinVar dbSNP |
| 13 | g.32339797G= | CA2082823363 | BRCA2 | c.5442G= (p.Val1814=) c.5073G= (p.Val1691=) n.5442G= | |
| 13 | g.32339797G>T | CA483438413 | BRCA2 | c.5442G>T (p.Val1814=) c.5073G>T (p.Val1691=) n.5442G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339797_32339799delinsGAC | CA2082823347 | BRCA2 | c.5442_5444delinsGAC (p.Val1814=) c.5073_5075delinsGAC (p.Val1691=) n.5442_5444delinsGAC | |
| 13 | g.32339797_32339799delinsTAA | CA16619725 | BRCA2 | c.5442_5444delinsTAA (p.Thr1815Asn) c.5073_5075delinsTAA (p.Thr1692Asn) n.5442_5444delinsTAA | ClinVar dbSNP |
| 13 | g.32339798A= | CA2082823384 | BRCA2 | c.5443A= (p.Thr1815=) c.5074A= (p.Thr1692=) n.5443A= | |
| 13 | g.32339798A>C | CA387785547 | BRCA2 | c.5443A>C (p.Thr1815Pro) c.5074A>C (p.Thr1692Pro) n.5443A>C | dbSNP |
| 13 | g.32339798A>G | CA387785550 | BRCA2 | c.5443A>G (p.Thr1815Ala) c.5074A>G (p.Thr1692Ala) n.5443A>G | ClinVar |
| 13 | g.32339798A>T | CA387785548 | BRCA2 | c.5443A>T (p.Thr1815Ser) c.5074A>T (p.Thr1692Ser) n.5443A>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339799C>A | CA387785552 | BRCA2 | c.5444C>A (p.Thr1815Asn) c.5075C>A (p.Thr1692Asn) n.5444C>A | ClinVar dbSNP |
| 13 | g.32339799C= | CA2082823396 | BRCA2 | c.5444C= (p.Thr1815=) c.5075C= (p.Thr1692=) n.5444C= | |
| 13 | g.32339799C>G | CA387785561 | BRCA2 | c.5444C>G (p.Thr1815Ser) c.5075C>G (p.Thr1692Ser) n.5444C>G | dbSNP |
| 13 | g.32339799C>T | CA022341 | BRCA2 | c.5444C>T (p.Thr1815Ile) c.5075C>T (p.Thr1692Ile) n.5444C>T | ClinVar dbSNP |
| 13 | g.32339801_32339804del | CA10654943 | BRCA2 | c.5446_5449del (p.Ser1816LeufsTer23) c.5077_5080del (p.Ser1693LeufsTer23) n.5446_5449del | |
| 13 | g.32339800T>A | CA483438417 | BRCA2 | c.5445T>A (p.Thr1815=) c.5076T>A (p.Thr1692=) n.5445T>A | dbSNP |
| 13 | g.32339800T>C | CA10583114 | BRCA2 | c.5445T>C (p.Thr1815=) c.5076T>C (p.Thr1692=) n.5445T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339800T>G | CA483438416 | BRCA2 | c.5445T>G (p.Thr1815=) c.5076T>G (p.Thr1692=) n.5445T>G | ClinVar dbSNP |
| 13 | g.32339800T= | CA2082823406 | BRCA2 | c.5445T= (p.Thr1815=) c.5076T= (p.Thr1692=) n.5445T= | |
| 13 | g.32339801A>C | CA387785569 | BRCA2 | c.5446A>C (p.Ser1816Arg) c.5077A>C (p.Ser1693Arg) n.5446A>C | |
| 13 | g.32339801A>G | CA387785570 | BRCA2 | c.5446A>G (p.Ser1816Gly) c.5077A>G (p.Ser1693Gly) n.5446A>G | ClinVar |
| 13 | g.32339801A>T | CA387785571 | BRCA2 | c.5446A>T (p.Ser1816Cys) c.5077A>T (p.Ser1693Cys) n.5446A>T | dbSNP |
| 13 | g.32339801dup | CA919242524 | BRCA2 | c.5446dup (p.Ser1816LysfsTer8) c.5077dup (p.Ser1693LysfsTer8) n.5446dup | dbSNP |
| 13 | g.32339802del | CA16621959 | BRCA2 | c.5447del (p.Ser1816ThrfsTer24) c.5078del (p.Ser1693ThrfsTer24) n.5447del | |
| 13 | g.32339802G>A | CA387785573 | BRCA2 | c.5447G>A (p.Ser1816Asn) c.5078G>A (p.Ser1693Asn) n.5447G>A | dbSNP |
| 13 | g.32339802G>C | CA387785576 | BRCA2 | c.5447G>C (p.Ser1816Thr) c.5078G>C (p.Ser1693Thr) n.5447G>C | dbSNP |
| 13 | g.32339802G= | CA2082823425 | BRCA2 | c.5447G= (p.Ser1816=) c.5078G= (p.Ser1693=) n.5447G= | |
| 13 | g.32339802G>T | CA387785577 | BRCA2 | c.5447G>T (p.Ser1816Ile) c.5078G>T (p.Ser1693Ile) n.5447G>T | ClinVar dbSNP |
| 13 | g.32339803C>A | CA387785579 | BRCA2 | c.5448C>A (p.Ser1816Arg) c.5079C>A (p.Ser1693Arg) n.5448C>A | ClinVar dbSNP |