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.32340098_32340100delinsACG | CA2082827061 | BRCA2 | c.5743_5745delinsACG (p.Thr1915=) c.5374_5376delinsACG (p.Thr1792=) n.5743_5745delinsACG | |
13 | g.32340099C>A | CA387786977 | BRCA2 | c.5744C>A (p.Thr1915Lys) c.5375C>A (p.Thr1792Lys) n.5744C>A | ClinVar dbSNP |
13 | g.32340099C= | CA2082827079 | BRCA2 | c.5744C= (p.Thr1915=) c.5375C= (p.Thr1792=) n.5744C= | |
13 | g.32340099C>G | CA387786979 | BRCA2 | c.5744C>G (p.Thr1915Arg) c.5375C>G (p.Thr1792Arg) n.5744C>G | dbSNP |
13 | g.32340099C>T | CA023133 | BRCA2 | c.5744C>T (p.Thr1915Met) c.5375C>T (p.Thr1792Met) n.5744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340099_32340100delinsTGCATT | CA913188655 | BRCA2 | c.5744_5745delinsTGCATT (p.Thr1915MetfsTer6) c.5375_5376delinsTGCATT (p.Thr1792MetfsTer6) n.5744_5745delinsTGCATT | ClinVar dbSNP |
13 | g.32340100del | CA2499222209 | BRCA2 | c.5745del (p.His1916IlefsTer?) c.5376del (p.His1793IlefsTer?) n.5745del | |
13 | g.32340100G>A | CA023145 | BRCA2 | c.5745G>A (p.Thr1915=) c.5376G>A (p.Thr1792=) n.5745G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340100G>C | CA247511520 | BRCA2 | c.5745G>C (p.Thr1915=) c.5376G>C (p.Thr1792=) n.5745G>C | dbSNP |
13 | g.32340100G= | CA2018046952 | BRCA2 | c.5745G= (p.Thr1915=) c.5376G= (p.Thr1792=) n.5745G= | |
13 | g.32340100G>T | CA10579669 | BRCA2 | c.5745G>T (p.Thr1915=) c.5376G>T (p.Thr1792=) n.5745G>T | ClinVar dbSNP |
13 | g.32340100_32340101delinsAT | CA2580087759 | BRCA2 | c.5745_5746delinsAT (p.His1916Tyr) c.5376_5377delinsAT (p.His1793Tyr) n.5745_5746delinsAT | ClinVar |
13 | g.32340101C>A | CA387786985 | BRCA2 | c.5746C>A (p.His1916Asn) c.5377C>A (p.His1793Asn) n.5746C>A | dbSNP |
13 | g.32340101C>G | CA387786986 | BRCA2 | c.5746C>G (p.His1916Asp) c.5377C>G (p.His1793Asp) n.5746C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340101C>T | CA387786989 | BRCA2 | c.5746C>T (p.His1916Tyr) c.5377C>T (p.His1793Tyr) n.5746C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340101_32340110delinsCATTCACATA | CA2082827103 | BRCA2 | c.5746_5755delinsCATTCACATA (p.His1916=) c.5377_5386delinsCATTCACATA (p.His1793=) n.5746_5755delinsCATTCACATA | |
13 | g.32340102del | CA2499222210 | BRCA2 | c.5747del (p.His1916LeufsTer?) c.5378del (p.His1793LeufsTer?) n.5747del | |
13 | g.32340102A= | CA2082827113 | BRCA2 | c.5747A= (p.His1916=) c.5378A= (p.His1793=) n.5747A= | |
13 | g.32340102A>C | CA387786991 | BRCA2 | c.5747A>C (p.His1916Pro) c.5378A>C (p.His1793Pro) n.5747A>C | dbSNP |
13 | g.32340102A>G | CA023149 | BRCA2 | c.5747A>G (p.His1916Arg) c.5378A>G (p.His1793Arg) n.5747A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340102A>T | CA387786993 | BRCA2 | c.5747A>T (p.His1916Leu) c.5378A>T (p.His1793Leu) n.5747A>T | ClinVar dbSNP |
13 | g.32340103_32340111del | CA609453788 | BRCA2 | c.5748_5756del (p.His1916_Lys1919delinsGln) c.5379_5387del (p.His1793_Lys1796delinsGln) n.5748_5756del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340103T>A | CA387787000 | BRCA2 | c.5748T>A (p.His1916Gln) c.5379T>A (p.His1793Gln) n.5748T>A | dbSNP |
13 | g.32340103T>C | CA483438898 | BRCA2 | c.5748T>C (p.His1916=) c.5379T>C (p.His1793=) n.5748T>C | |
13 | g.32340103T>G | CA387787001 | BRCA2 | c.5748T>G (p.His1916Gln) c.5379T>G (p.His1793Gln) n.5748T>G | ClinVar dbSNP |
13 | g.32340103T= | CA2082827123 | BRCA2 | c.5748T= (p.His1916=) c.5379T= (p.His1793=) n.5748T= | |
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340104T>A | CA387787004 | BRCA2 | c.5749T>A (p.Ser1917Thr) c.5380T>A (p.Ser1794Thr) n.5749T>A | dbSNP |
13 | g.32340104T>C | CA387787005 | BRCA2 | c.5749T>C (p.Ser1917Pro) c.5380T>C (p.Ser1794Pro) n.5749T>C | ClinVar dbSNP |
13 | g.32340104T>G | CA387787007 | BRCA2 | c.5749T>G (p.Ser1917Ala) c.5380T>G (p.Ser1794Ala) n.5749T>G | |
13 | g.32340105C>A | CA10589328 | BRCA2 | c.5750C>A (p.Ser1917Ter) c.5381C>A (p.Ser1794Ter) n.5750C>A | ClinVar dbSNP |
13 | g.32340105C= | CA2082827139 | BRCA2 | c.5750C= (p.Ser1917=) c.5381C= (p.Ser1794=) n.5750C= | |
13 | g.32340105C>G | CA387787011 | BRCA2 | c.5750C>G (p.Ser1917Ter) c.5381C>G (p.Ser1794Ter) n.5750C>G | ClinVar dbSNP |
13 | g.32340105C>T | CA387787014 | BRCA2 | c.5750C>T (p.Ser1917Leu) c.5381C>T (p.Ser1794Leu) n.5750C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340106A>C | CA483438901 | BRCA2 | c.5751A>C (p.Ser1917=) c.5382A>C (p.Ser1794=) n.5751A>C | dbSNP |
13 | g.32340106A>G | CA483438899 | BRCA2 | c.5751A>G (p.Ser1917=) c.5382A>G (p.Ser1794=) n.5751A>G | dbSNP |
13 | g.32340106A>T | CA483438900 | BRCA2 | c.5751A>T (p.Ser1917=) c.5382A>T (p.Ser1794=) n.5751A>T | dbSNP |
13 | g.32340107C>A | CA387787020 | BRCA2 | c.5752C>A (p.His1918Asn) c.5383C>A (p.His1795Asn) n.5752C>A | dbSNP |
13 | g.32340107C= | CA2082827164 | BRCA2 | c.5752C= (p.His1918=) c.5383C= (p.His1795=) n.5752C= | |
13 | g.32340107C>G | CA387787022 | BRCA2 | c.5752C>G (p.His1918Asp) c.5383C>G (p.His1795Asp) n.5752C>G | dbSNP |
13 | g.32340107C>T | CA023153 | BRCA2 | c.5752C>T (p.His1918Tyr) c.5383C>T (p.His1795Tyr) n.5752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340107_32340109delinsCAT | CA2082827165 | BRCA2 | c.5752_5754delinsCAT (p.His1918=) c.5383_5385delinsCAT (p.His1795=) n.5752_5754delinsCAT | |
13 | g.32340108del | CA2499222211 | BRCA2 | c.5753del (p.His1918LeufsTer?) c.5384del (p.His1795LeufsTer?) n.5753del | |
13 | g.32340108A= | CA2082827188 | BRCA2 | c.5753A= (p.His1918=) c.5384A= (p.His1795=) n.5753A= | |
13 | g.32340108A>C | CA387787028 | BRCA2 | c.5753A>C (p.His1918Pro) c.5384A>C (p.His1795Pro) n.5753A>C | gnomAD v4 |
13 | g.32340108A>G | CA023157 | BRCA2 | c.5753A>G (p.His1918Arg) c.5384A>G (p.His1795Arg) n.5753A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340108A>T | CA387787030 | BRCA2 | c.5753A>T (p.His1918Leu) c.5384A>T (p.His1795Leu) n.5753A>T | dbSNP |
13 | g.32340109_32340110del | CA023161 | BRCA2 | c.5754_5755del (p.His1918GlnfsTer5) c.5385_5386del (p.His1795GlnfsTer5) n.5754_5755del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340109T>A | CA387787033 | BRCA2 | c.5754T>A (p.His1918Gln) c.5385T>A (p.His1795Gln) n.5754T>A | dbSNP |