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.32340254_32340258delinsAAGTC | CA2082828733 | BRCA2 | c.5899_5903delinsAAGTC (p.Lys1967=) c.5530_5534delinsAAGTC (p.Lys1844=) n.5899_5903delinsAAGTC | |
13 | g.32340259_32340262del | CA023357 | BRCA2 | c.5904_5907del (p.Val1969HisfsTer?) c.5535_5538del (p.Val1846HisfsTer?) n.5904_5907del | ClinVar dbSNP |
13 | g.32340256G>A | CA6940910 | BRCA2 | c.5901G>A (p.Lys1967=) c.5532G>A (p.Lys1844=) n.5901G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340256G>C | CA387787495 | BRCA2 | c.5901G>C (p.Lys1967Asn) c.5532G>C (p.Lys1844Asn) n.5901G>C | ClinVar dbSNP |
13 | g.32340256G= | CA2082828761 | BRCA2 | c.5901G= (p.Lys1967=) c.5532G= (p.Lys1844=) n.5901G= | |
13 | g.32340256G>T | CA387787496 | BRCA2 | c.5901G>T (p.Lys1967Asn) c.5532G>T (p.Lys1844Asn) n.5901G>T | dbSNP |
13 | g.32340256dup | CA2499222216 | BRCA2 | c.5901dup (p.Ser1968ValfsTer12) c.5532dup (p.Ser1845ValfsTer12) n.5901dup | |
13 | g.32340257T>A | CA387787497 | BRCA2 | c.5902T>A (p.Ser1968Thr) c.5533T>A (p.Ser1845Thr) n.5902T>A | dbSNP |
13 | g.32340257T>C | CA387787498 | BRCA2 | c.5902T>C (p.Ser1968Pro) c.5533T>C (p.Ser1845Pro) n.5902T>C | ClinVar dbSNP |
13 | g.32340257T>G | CA387787499 | BRCA2 | c.5902T>G (p.Ser1968Ala) c.5533T>G (p.Ser1845Ala) n.5902T>G | dbSNP gnomAD v4 |
13 | g.32340257T= | CA2082828767 | BRCA2 | c.5902T= (p.Ser1968=) c.5533T= (p.Ser1845=) n.5902T= | |
13 | g.32340258C>A | CA387787500 | BRCA2 | c.5903C>A (p.Ser1968Ter) c.5534C>A (p.Ser1845Ter) n.5903C>A | dbSNP gnomAD v4 |
13 | g.32340258C= | CA2082828778 | BRCA2 | c.5903C= (p.Ser1968=) c.5534C= (p.Ser1845=) n.5903C= | |
13 | g.32340258C>G | CA387787501 | BRCA2 | c.5903C>G (p.Ser1968Ter) c.5534C>G (p.Ser1845Ter) n.5903C>G | dbSNP |
13 | g.32340258C>T | CA023356 | BRCA2 | c.5903C>T (p.Ser1968Leu) c.5534C>T (p.Ser1845Leu) n.5903C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340259A>C | CA483439063 | BRCA2 | c.5904A>C (p.Ser1968=) c.5535A>C (p.Ser1845=) n.5904A>C | |
13 | g.32340259A>G | CA483439062 | BRCA2 | c.5904A>G (p.Ser1968=) c.5535A>G (p.Ser1845=) n.5904A>G | |
13 | g.32340259A>T | CA483439061 | BRCA2 | c.5904A>T (p.Ser1968=) c.5535A>T (p.Ser1845=) n.5904A>T | |
13 | g.32340259dup | CA10589335 | BRCA2 | c.5904dup (p.Val1969SerfsTer11) c.5535dup (p.Val1846SerfsTer11) n.5904dup | ClinVar dbSNP |
13 | g.32340260G>A | CA387787504 | BRCA2 | c.5905G>A (p.Val1969Ile) c.5536G>A (p.Val1846Ile) n.5905G>A | ClinVar dbSNP |
13 | g.32340260G>C | CA387787502 | BRCA2 | c.5905G>C (p.Val1969Leu) c.5536G>C (p.Val1846Leu) n.5905G>C | ClinVar dbSNP |
13 | g.32340260G= | CA2082828790 | BRCA2 | c.5905G= (p.Val1969=) c.5536G= (p.Val1846=) n.5905G= | |
13 | g.32340260G>T | CA387787503 | BRCA2 | c.5905G>T (p.Val1969Phe) c.5536G>T (p.Val1846Phe) n.5905G>T | |
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 |