| 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.32339945_32339948del | CA10586075 | BRCA2 | c.5590_5593del (p.Asp1864TyrfsTer9) c.5221_5224del (p.Asp1741TyrfsTer9) n.5590_5593del | ClinVar dbSNP |
| 13 | g.32339947_32339948del | CA022659 | BRCA2 | c.5592_5593del (p.Phe1866TyrfsTer6) c.5223_5224del (p.Phe1743TyrfsTer6) n.5592_5593del | ClinVar dbSNP |
| 13 | g.32339947_32339948delinsCA | CA2082825096 | BRCA2 | c.5592_5593delinsCA (p.Asp1864=) c.5223_5224delinsCA (p.Asp1741=) n.5592_5593delinsCA | |
| 13 | g.32339947_32339949delinsCAT | CA2082825093 | BRCA2 | c.5592_5594delinsCAT (p.Asp1864=) c.5223_5225delinsCAT (p.Asp1741=) n.5592_5594delinsCAT | |
| 13 | g.32339948del | CA16619727 | BRCA2 | c.5593del (p.Ile1865TyrfsTer9) c.5224del (p.Ile1742TyrfsTer9) n.5593del | ClinVar dbSNP |
| 13 | g.32339948A= | CA2082825112 | BRCA2 | c.5593A= (p.Ile1865=) c.5224A= (p.Ile1742=) n.5593A= | |
| 13 | g.32339948A>C | CA387786044 | BRCA2 | c.5593A>C (p.Ile1865Leu) c.5224A>C (p.Ile1742Leu) n.5593A>C | |
| 13 | g.32339948A>G | CA022664 | BRCA2 | c.5593A>G (p.Ile1865Val) c.5224A>G (p.Ile1742Val) n.5593A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339948A>T | CA387786045 | BRCA2 | c.5593A>T (p.Ile1865Leu) c.5224A>T (p.Ile1742Leu) n.5593A>T | dbSNP |
| 13 | g.32339948dup | CA2499222204 | BRCA2 | c.5593dup (p.Ile1865AsnfsTer8) c.5224dup (p.Ile1742AsnfsTer8) n.5593dup | ClinVar dbSNP |
| 13 | g.32339950_32339951del | CA022668 | BRCA2 | c.5595_5596del (p.Phe1866TyrfsTer6) c.5226_5227del (p.Phe1743TyrfsTer6) n.5595_5596del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339949T>A | CA387786046 | BRCA2 | c.5594T>A (p.Ile1865Lys) c.5225T>A (p.Ile1742Lys) n.5594T>A | dbSNP |
| 13 | g.32339949T>C | CA387786047 | BRCA2 | c.5594T>C (p.Ile1865Thr) c.5225T>C (p.Ile1742Thr) n.5594T>C | |
| 13 | g.32339949T>G | CA387786048 | BRCA2 | c.5594T>G (p.Ile1865Arg) c.5225T>G (p.Ile1742Arg) n.5594T>G | |
| 13 | g.32339949_32339951delinsTAT | CA2082825116 | BRCA2 | c.5594_5596delinsTAT (p.Ile1865=) c.5225_5227delinsTAT (p.Ile1742=) n.5594_5596delinsTAT | |
| 13 | g.32339950A= | CA2082825125 | BRCA2 | c.5595A= (p.Ile1865=) c.5226A= (p.Ile1742=) n.5595A= | |
| 13 | g.32339950A>C | CA483438739 | BRCA2 | c.5595A>C (p.Ile1865=) c.5226A>C (p.Ile1742=) n.5595A>C | |
| 13 | g.32339950A>G | CA387786049 | BRCA2 | c.5595A>G (p.Ile1865Met) c.5226A>G (p.Ile1742Met) n.5595A>G | ClinVar dbSNP |
| 13 | g.32339950A>T | CA483438740 | BRCA2 | c.5595A>T (p.Ile1865=) c.5226A>T (p.Ile1742=) n.5595A>T | |
| 13 | g.32339950_32339951delinsC | CA280073 | BRCA2 | c.5595_5596delinsC (p.Phe1866LeufsTer8) c.5226_5227delinsC (p.Phe1743LeufsTer8) n.5595_5596delinsC | ClinVar dbSNP |
| 13 | g.32339951T>A | CA387786050 | BRCA2 | c.5596T>A (p.Phe1866Ile) c.5227T>A (p.Phe1743Ile) n.5596T>A | dbSNP |
| 13 | g.32339951T>C | CA022674 | BRCA2 | c.5596T>C (p.Phe1866Leu) c.5227T>C (p.Phe1743Leu) n.5596T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339951T>G | CA387786051 | BRCA2 | c.5596T>G (p.Phe1866Val) c.5227T>G (p.Phe1743Val) n.5596T>G | |
| 13 | g.32339951T= | CA2082825147 | BRCA2 | c.5596T= (p.Phe1866=) c.5227T= (p.Phe1743=) n.5596T= | |
| 13 | g.32339953dup | CA2580087617 | BRCA2 | c.5598dup (p.Thr1867TyrfsTer6) c.5229dup (p.Thr1744TyrfsTer6) n.5598dup | ClinVar |
| 13 | g.32339952T>A | CA387786052 | BRCA2 | c.5597T>A (p.Phe1866Tyr) c.5228T>A (p.Phe1743Tyr) n.5597T>A | dbSNP |
| 13 | g.32339952T>C | CA387786053 | BRCA2 | c.5597T>C (p.Phe1866Ser) c.5228T>C (p.Phe1743Ser) n.5597T>C | |
| 13 | g.32339952T>G | CA387786054 | BRCA2 | c.5597T>G (p.Phe1866Cys) c.5228T>G (p.Phe1743Cys) n.5597T>G | |
| 13 | g.32339953T>A | CA387786056 | BRCA2 | c.5598T>A (p.Phe1866Leu) c.5229T>A (p.Phe1743Leu) n.5598T>A | |
| 13 | g.32339953T>C | CA483438742 | BRCA2 | c.5598T>C (p.Phe1866=) c.5229T>C (p.Phe1743=) n.5598T>C | |
| 13 | g.32339953T>G | CA387786055 | BRCA2 | c.5598T>G (p.Phe1866Leu) c.5229T>G (p.Phe1743Leu) n.5598T>G | |
| 13 | g.32339953_32339957delinsTACAG | CA2082825155 | BRCA2 | c.5598_5602delinsTACAG (p.Phe1866=) c.5229_5233delinsTACAG (p.Phe1743=) n.5598_5602delinsTACAG | |
| 13 | g.32339954A= | CA2082825169 | BRCA2 | c.5599A= (p.Thr1867=) c.5230A= (p.Thr1744=) n.5599A= | |
| 13 | g.32339954A>C | CA387786057 | BRCA2 | c.5599A>C (p.Thr1867Pro) c.5230A>C (p.Thr1744Pro) n.5599A>C | ClinVar dbSNP |
| 13 | g.32339954A>G | CA387786058 | BRCA2 | c.5599A>G (p.Thr1867Ala) c.5230A>G (p.Thr1744Ala) n.5599A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339954A>T | CA387786059 | BRCA2 | c.5599A>T (p.Thr1867Ser) c.5230A>T (p.Thr1744Ser) n.5599A>T | dbSNP |
| 13 | g.32339958_32339961del | CA022689 | BRCA2 | c.5603_5606del (p.Asp1868ValfsTer5) c.5234_5237del (p.Asp1745ValfsTer5) n.5603_5606del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339955C>A | CA387786060 | BRCA2 | c.5600C>A (p.Thr1867Lys) c.5231C>A (p.Thr1744Lys) n.5600C>A | ClinVar dbSNP |
| 13 | g.32339955C= | CA2082825176 | BRCA2 | c.5600C= (p.Thr1867=) c.5231C= (p.Thr1744=) n.5600C= | |
| 13 | g.32339955C>G | CA387786061 | BRCA2 | c.5600C>G (p.Thr1867Arg) c.5231C>G (p.Thr1744Arg) n.5600C>G | dbSNP |
| 13 | g.32339955C>T | CA387786062 | BRCA2 | c.5600C>T (p.Thr1867Ile) c.5231C>T (p.Thr1744Ile) n.5600C>T | dbSNP |
| 13 | g.32339956A>C | CA483438744 | BRCA2 | c.5601A>C (p.Thr1867=) c.5232A>C (p.Thr1744=) n.5601A>C | |
| 13 | g.32339956A>G | CA483438745 | BRCA2 | c.5601A>G (p.Thr1867=) c.5232A>G (p.Thr1744=) n.5601A>G | dbSNP |
| 13 | g.32339956A>T | CA483438746 | BRCA2 | c.5601A>T (p.Thr1867=) c.5232A>T (p.Thr1744=) n.5601A>T | dbSNP |
| 13 | g.32339957G>A | CA387786063 | BRCA2 | c.5602G>A (p.Asp1868Asn) c.5233G>A (p.Asp1745Asn) n.5602G>A | ClinVar dbSNP |
| 13 | g.32339957G>C | CA387786064 | BRCA2 | c.5602G>C (p.Asp1868His) c.5233G>C (p.Asp1745His) n.5602G>C | dbSNP |
| 13 | g.32339957G= | CA2082825182 | BRCA2 | c.5602G= (p.Asp1868=) c.5233G= (p.Asp1745=) n.5602G= |