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.32340159_32340162del | CA2695217902 | BRCA2 | c.5804_5807del (p.Asn1935SerfsTer27) c.5435_5438del (p.Asn1812SerfsTer27) n.5804_5807del | |
13 | g.32340161_32340162del | CA2575387727 | BRCA2 | c.5806_5807del (p.Met1936ValfsTer8) c.5437_5438del (p.Met1813ValfsTer8) n.5806_5807del | ClinVar |
13 | g.32340161A= | CA2082827778 | BRCA2 | c.5806A= (p.Met1936=) c.5437A= (p.Met1813=) n.5806A= | |
13 | g.32340161A>C | CA387787232 | BRCA2 | c.5806A>C (p.Met1936Leu) c.5437A>C (p.Met1813Leu) n.5806A>C | ClinVar |
13 | g.32340161A>G | CA387787233 | BRCA2 | c.5806A>G (p.Met1936Val) c.5437A>G (p.Met1813Val) n.5806A>G | ClinVar dbSNP |
13 | g.32340161A>T | CA387787235 | BRCA2 | c.5806A>T (p.Met1936Leu) c.5437A>T (p.Met1813Leu) n.5806A>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340161_32340162delinsAT | CA2082827773 | BRCA2 | c.5806_5807delinsAT (p.Met1936=) c.5437_5438delinsAT (p.Met1813=) n.5806_5807delinsAT | |
13 | g.32340161_32340165delinsATGTC | CA2082827769 | BRCA2 | c.5806_5810delinsATGTC (p.Met1936=) c.5437_5441delinsATGTC (p.Met1813=) n.5806_5810delinsATGTC | |
13 | g.32340161_32340171delinsATGTCTGGATT | CA2082827776 | BRCA2 | c.5806_5816delinsATGTCTGGATT (p.Met1936=) c.5437_5447delinsATGTCTGGATT (p.Met1813=) n.5806_5816delinsATGTCTGGATT | |
13 | g.32340162del | CA658798121 | BRCA2 | c.5807del (p.Met1936SerfsTer27) c.5438del (p.Met1813SerfsTer27) n.5807del | ClinVar dbSNP |
13 | g.32340162T>A | CA387787237 | BRCA2 | c.5807T>A (p.Met1936Lys) c.5438T>A (p.Met1813Lys) n.5807T>A | dbSNP |
13 | g.32340162T>C | CA387787238 | BRCA2 | c.5807T>C (p.Met1936Thr) c.5438T>C (p.Met1813Thr) n.5807T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340162T>G | CA387787240 | BRCA2 | c.5807T>G (p.Met1936Arg) c.5438T>G (p.Met1813Arg) n.5807T>G | ClinVar dbSNP |
13 | g.32340162T= | CA2082827810 | BRCA2 | c.5807T= (p.Met1936=) c.5438T= (p.Met1813=) n.5807T= | |
13 | g.32340162_32340163delinsTG | CA2082827793 | BRCA2 | c.5807_5808delinsTG (p.Met1936=) c.5438_5439delinsTG (p.Met1813=) n.5807_5808delinsTG | |
13 | g.32340163_32340164del | CA2740097657 | BRCA2 | c.5808_5809del (p.Met1936IlefsTer8) c.5439_5440del (p.Met1813IlefsTer8) n.5808_5809del | ClinVar |
13 | g.32340164_32340167del | CA10589330 | BRCA2 | c.5809_5812del (p.Ser1937AspfsTer25) c.5440_5443del (p.Ser1814AspfsTer25) n.5809_5812del | ClinVar dbSNP |
13 | g.32340162_32340171delinsGTC | CA658656404 | BRCA2 | c.5807_5816delinsGTC (p.Met1936SerfsTer25) c.5438_5447delinsGTC (p.Met1813SerfsTer25) n.5807_5816delinsGTC | ClinVar dbSNP |
13 | g.32340163del | CA919242569 | BRCA2 | c.5808del (p.Met1936IlefsTer27) c.5439del (p.Met1813IlefsTer27) n.5808del | dbSNP gnomAD v4 |
13 | g.32340163G>A | CA023262 | BRCA2 | c.5808G>A (p.Met1936Ile) c.5439G>A (p.Met1813Ile) n.5808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340163G>C | CA387787242 | BRCA2 | c.5808G>C (p.Met1936Ile) c.5439G>C (p.Met1813Ile) n.5808G>C | dbSNP |
13 | g.32340163G= | CA2082827825 | BRCA2 | c.5808G= (p.Met1936=) c.5439G= (p.Met1813=) n.5808G= | |
13 | g.32340163G>T | CA387787244 | BRCA2 | c.5808G>T (p.Met1936Ile) c.5439G>T (p.Met1813Ile) n.5808G>T | ClinVar dbSNP |
13 | g.32340164T>A | CA387787245 | BRCA2 | c.5809T>A (p.Ser1937Thr) c.5440T>A (p.Ser1814Thr) n.5809T>A | dbSNP |
13 | g.32340164T>C | CA387787247 | BRCA2 | c.5809T>C (p.Ser1937Pro) c.5440T>C (p.Ser1814Pro) n.5809T>C | dbSNP |
13 | g.32340164T>G | CA387787248 | BRCA2 | c.5809T>G (p.Ser1937Ala) c.5440T>G (p.Ser1814Ala) n.5809T>G | ClinVar |
13 | g.32340165_32340166del | CA658761196 | BRCA2 | c.5810_5811del (p.Ser1937TrpfsTer7) c.5441_5442del (p.Ser1814TrpfsTer7) n.5810_5811del | |
13 | g.32340164_32340169delinsTCTGGA | CA2082827831 | BRCA2 | c.5809_5814delinsTCTGGA (p.Ser1937=) c.5440_5445delinsTCTGGA (p.Ser1814=) n.5809_5814delinsTCTGGA | |
13 | g.32340165C>A | CA387787250 | BRCA2 | c.5810C>A (p.Ser1937Tyr) c.5441C>A (p.Ser1814Tyr) n.5810C>A | dbSNP |
13 | g.32340165C= | CA2082827842 | BRCA2 | c.5810C= (p.Ser1937=) c.5441C= (p.Ser1814=) n.5810C= | |
13 | g.32340165C>G | CA387787252 | BRCA2 | c.5810C>G (p.Ser1937Cys) c.5441C>G (p.Ser1814Cys) n.5810C>G | dbSNP |
13 | g.32340165C>T | CA387787253 | BRCA2 | c.5810C>T (p.Ser1937Phe) c.5441C>T (p.Ser1814Phe) n.5810C>T | dbSNP |
13 | g.32340165_32340167delinsCTG | CA2082827840 | BRCA2 | c.5810_5812delinsCTG (p.Ser1937=) c.5441_5443delinsCTG (p.Ser1814=) n.5810_5812delinsCTG | |
13 | g.32340165_32340169del | CA919242570 | BRCA2 | c.5810_5814del (p.Ser1937PhefsTer6) c.5441_5445del (p.Ser1814PhefsTer6) n.5810_5814del | dbSNP gnomAD v4 |
13 | g.32340166T>A | CA483438968 | BRCA2 | c.5811T>A (p.Ser1937=) c.5442T>A (p.Ser1814=) n.5811T>A | |
13 | g.32340166T>C | CA483438969 | BRCA2 | c.5811T>C (p.Ser1937=) c.5442T>C (p.Ser1814=) n.5811T>C | |
13 | g.32340166T>G | CA483438970 | BRCA2 | c.5811T>G (p.Ser1937=) c.5442T>G (p.Ser1814=) n.5811T>G | |
13 | g.32340166_32340167del | CA10589331 | BRCA2 | c.5811_5812del (p.Gly1938IlefsTer6) c.5442_5443del (p.Gly1815IlefsTer6) n.5811_5812del | ClinVar dbSNP |
13 | g.32340167G>A | CA387787255 | BRCA2 | c.5812G>A (p.Gly1938Arg) c.5443G>A (p.Gly1815Arg) n.5812G>A | dbSNP gnomAD v4 |
13 | g.32340167G>C | CA6940904 | BRCA2 | c.5812G>C (p.Gly1938Arg) c.5443G>C (p.Gly1815Arg) n.5812G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340167G= | CA2082827849 | BRCA2 | c.5812G= (p.Gly1938=) c.5443G= (p.Gly1815=) n.5812G= | |
13 | g.32340167G>T | CA387787258 | BRCA2 | c.5812G>T (p.Gly1938Ter) c.5443G>T (p.Gly1815Ter) n.5812G>T | dbSNP |
13 | g.32340167_32340168delinsC | CA2580087780 | BRCA2 | c.5812_5813delinsC (p.Gly1938HisfsTer25) c.5443_5444delinsC (p.Gly1815HisfsTer25) n.5812_5813delinsC | ClinVar |
13 | g.32340168G>A | CA387787259 | BRCA2 | c.5813G>A (p.Gly1938Glu) c.5444G>A (p.Gly1815Glu) n.5813G>A | ClinVar dbSNP |
13 | g.32340168G>C | CA023264 | BRCA2 | c.5813G>C (p.Gly1938Ala) c.5444G>C (p.Gly1815Ala) n.5813G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340168G= | CA2082827857 | BRCA2 | c.5813G= (p.Gly1938=) c.5444G= (p.Gly1815=) n.5813G= | |
13 | g.32340168G>T | CA387787261 | BRCA2 | c.5813G>T (p.Gly1938Val) c.5444G>T (p.Gly1815Val) n.5813G>T | ClinVar dbSNP |
13 | g.32340169_32340172del | CA1139770796 | BRCA2 | c.5814_5817del (p.Leu1939ArgfsTer23) c.5445_5448del (p.Leu1816ArgfsTer23) n.5814_5817del |