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.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340259_32340262del | CA023357 | BRCA2 | c.5904_5907del (p.Val1969HisfsTer?) c.5535_5538del (p.Val1846HisfsTer?) n.5904_5907del | ClinVar dbSNP |
13 | g.32340261_32340269del | CA2517023400 | BRCA2 | c.5906_5914del (p.Val1969_Ser1971del) c.5537_5545del (p.Val1846_Ser1848del) n.5906_5914del | |
13 | g.32340261T>A | CA387787505 | BRCA2 | c.5906T>A (p.Val1969Asp) c.5537T>A (p.Val1846Asp) n.5906T>A | |
13 | g.32340261T>C | CA387787506 | BRCA2 | c.5906T>C (p.Val1969Ala) c.5537T>C (p.Val1846Ala) n.5906T>C | |
13 | g.32340261T>G | CA387787507 | BRCA2 | c.5906T>G (p.Val1969Gly) c.5537T>G (p.Val1846Gly) n.5906T>G | |
13 | g.32340263_32340264del | CA2580614697 | BRCA2 | c.5908_5909del (p.Ser1970IlefsTer9) c.5539_5540del (p.Ser1847IlefsTer9) n.5908_5909del | ClinVar |
13 | g.32340262C>A | CA16606793 | BRCA2 | c.5907C>A (p.Val1969=) c.5538C>A (p.Val1846=) n.5907C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340262C= | CA2082828816 | BRCA2 | c.5907C= (p.Val1969=) c.5538C= (p.Val1846=) n.5907C= | |
13 | g.32340262C>G | CA023360 | BRCA2 | c.5907C>G (p.Val1969=) c.5538C>G (p.Val1846=) n.5907C>G | ClinVar dbSNP |
13 | g.32340262C>T | CA483439065 | BRCA2 | c.5907C>T (p.Val1969=) c.5538C>T (p.Val1846=) n.5907C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340263T>A | CA387787508 | BRCA2 | c.5908T>A (p.Ser1970Thr) c.5539T>A (p.Ser1847Thr) n.5908T>A | dbSNP |
13 | g.32340263T>C | CA387787509 | BRCA2 | c.5908T>C (p.Ser1970Pro) c.5539T>C (p.Ser1847Pro) n.5908T>C | dbSNP |
13 | g.32340263T>G | CA387787510 | BRCA2 | c.5908T>G (p.Ser1970Ala) c.5539T>G (p.Ser1847Ala) n.5908T>G | |
13 | g.32340264C>A | CA023362 | BRCA2 | c.5909C>A (p.Ser1970Ter) c.5540C>A (p.Ser1847Ter) n.5909C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340264C= | CA2082828825 | BRCA2 | c.5909C= (p.Ser1970=) c.5540C= (p.Ser1847=) n.5909C= | |
13 | g.32340264C>G | CA387787511 | BRCA2 | c.5909C>G (p.Ser1970Ter) c.5540C>G (p.Ser1847Ter) n.5909C>G | ClinVar dbSNP |
13 | g.32340264C>T | CA023364 | BRCA2 | c.5909C>T (p.Ser1970Leu) c.5540C>T (p.Ser1847Leu) n.5909C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340265A= | CA2082828841 | BRCA2 | c.5910A= (p.Ser1970=) c.5541A= (p.Ser1847=) n.5910A= | |
13 | g.32340265A>C | CA483439066 | BRCA2 | c.5910A>C (p.Ser1970=) c.5541A>C (p.Ser1847=) n.5910A>C | ClinVar dbSNP |
13 | g.32340265A>G | CA10579671 | BRCA2 | c.5910A>G (p.Ser1970=) c.5541A>G (p.Ser1847=) n.5910A>G | ClinVar dbSNP |
13 | g.32340265A>T | CA483439067 | BRCA2 | c.5910A>T (p.Ser1970=) c.5541A>T (p.Ser1847=) n.5910A>T | dbSNP |
13 | g.32340265dup | CA1139770797 | BRCA2 | c.5910dup (p.Ser1971IlefsTer9) c.5541dup (p.Ser1848IlefsTer9) n.5910dup | |
13 | g.32340265_32340266delinsAT | CA2082828859 | BRCA2 | c.5910_5911delinsAT (p.Ser1970=) c.5541_5542delinsAT (p.Ser1847=) n.5910_5911delinsAT | |
13 | g.32340266del | CA658653656 | BRCA2 | c.5911del (p.Ser1971LeufsTer?) c.5542del (p.Ser1848LeufsTer?) n.5911del | ClinVar dbSNP |
13 | g.32340266T>A | CA387787514 | BRCA2 | c.5911T>A (p.Ser1971Thr) c.5542T>A (p.Ser1848Thr) n.5911T>A | dbSNP |
13 | g.32340266T>C | CA387787513 | BRCA2 | c.5911T>C (p.Ser1971Pro) c.5542T>C (p.Ser1848Pro) n.5911T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340266T>G | CA387787512 | BRCA2 | c.5911T>G (p.Ser1971Ala) c.5542T>G (p.Ser1848Ala) n.5911T>G | |
13 | g.32340266T= | CA2082828868 | BRCA2 | c.5911T= (p.Ser1971=) c.5542T= (p.Ser1848=) n.5911T= | |
13 | g.32340266_32340267delinsTC | CA2082828870 | BRCA2 | c.5911_5912delinsTC (p.Ser1971=) c.5542_5543delinsTC (p.Ser1848=) n.5911_5912delinsTC | |
13 | g.32340267del | CA658653657 | BRCA2 | c.5912del (p.Ser1971LeufsTer?) c.5543del (p.Ser1848LeufsTer?) n.5912del | ClinVar dbSNP gnomAD v4 |
13 | g.32340267C>A | CA387787515 | BRCA2 | c.5912C>A (p.Ser1971Tyr) c.5543C>A (p.Ser1848Tyr) n.5912C>A | dbSNP |
13 | g.32340267C= | CA2082828886 | BRCA2 | c.5912C= (p.Ser1971=) c.5543C= (p.Ser1848=) n.5912C= | |
13 | g.32340267C>G | CA387787517 | BRCA2 | c.5912C>G (p.Ser1971Cys) c.5543C>G (p.Ser1848Cys) n.5912C>G | ClinVar dbSNP |
13 | g.32340267C>T | CA387787516 | BRCA2 | c.5912C>T (p.Ser1971Phe) c.5543C>T (p.Ser1848Phe) n.5912C>T | ClinVar dbSNP |
13 | g.32340267_32340268delinsCT | CA2082828881 | BRCA2 | c.5912_5913delinsCT (p.Ser1971=) c.5543_5544delinsCT (p.Ser1848=) n.5912_5913delinsCT | |
13 | g.32340268del | CA919242595 | BRCA2 | c.5913del (p.Ala1972GlnfsTer?) c.5544del (p.Ala1849GlnfsTer?) n.5913del | dbSNP |
13 | g.32340268T>A | CA483439072 | BRCA2 | c.5913T>A (p.Ser1971=) c.5544T>A (p.Ser1848=) n.5913T>A | dbSNP |
13 | g.32340268T>C | CA6940911 | BRCA2 | c.5913T>C (p.Ser1971=) c.5544T>C (p.Ser1848=) n.5913T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340268T>G | CA483439073 | BRCA2 | c.5913T>G (p.Ser1971=) c.5544T>G (p.Ser1848=) n.5913T>G | dbSNP |
13 | g.32340268T= | CA2082828901 | BRCA2 | c.5913T= (p.Ser1971=) c.5544T= (p.Ser1848=) n.5913T= | |
13 | g.32340269G>A | CA387787518 | BRCA2 | c.5914G>A (p.Ala1972Thr) c.5545G>A (p.Ala1849Thr) n.5914G>A | dbSNP |
13 | g.32340269G>C | CA16619733 | BRCA2 | c.5914G>C (p.Ala1972Pro) c.5545G>C (p.Ala1849Pro) n.5914G>C | ClinVar dbSNP |
13 | g.32340269G= | CA2082828914 | BRCA2 | c.5914G= (p.Ala1972=) c.5545G= (p.Ala1849=) n.5914G= | |
13 | g.32340269G>T | CA387787519 | BRCA2 | c.5914G>T (p.Ala1972Ser) c.5545G>T (p.Ala1849Ser) n.5914G>T | dbSNP |
13 | g.32340270C>A | CA387787520 | BRCA2 | c.5915C>A (p.Ala1972Glu) c.5546C>A (p.Ala1849Glu) n.5915C>A | dbSNP |
13 | g.32340270C>G | CA387787522 | BRCA2 | c.5915C>G (p.Ala1972Gly) c.5546C>G (p.Ala1849Gly) n.5915C>G | |
13 | g.32340270C>T | CA387787521 | BRCA2 | c.5915C>T (p.Ala1972Val) c.5546C>T (p.Ala1849Val) n.5915C>T | ClinVar dbSNP |
13 | g.32340270_32340271delinsCA | CA2082828919 | BRCA2 | c.5915_5916delinsCA (p.Ala1972=) c.5546_5547delinsCA (p.Ala1849=) n.5915_5916delinsCA |