Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340753_32340757delinsCAAAT | CA2082814066 | BRCA2 | c.6398_6402delinsCAAAT (p.Ser2133=) c.6029_6033delinsCAAAT (p.Ser2010=) n.6398_6402delinsCAAAT | |
13 | g.32340756_32340759del | CA023989 | BRCA2 | c.6401_6404del (p.Asn2134ThrfsTer2) c.6032_6035del (p.Asn2011ThrfsTer2) n.6401_6404del | ClinVar dbSNP |
13 | g.32340756_32340761delinsATAACT | CA2082814088 | BRCA2 | c.6401_6406delinsATAACT (p.Asn2134=) c.6032_6037delinsATAACT (p.Asn2011=) n.6401_6406delinsATAACT | |
13 | g.32340757T>A | CA387789239 | BRCA2 | c.6402T>A (p.Asn2134Lys) c.6033T>A (p.Asn2011Lys) n.6402T>A | dbSNP |
13 | g.32340757T>C | CA483438848 | BRCA2 | c.6402T>C (p.Asn2134=) c.6033T>C (p.Asn2011=) n.6402T>C | dbSNP |
13 | g.32340757T>G | CA387789240 | BRCA2 | c.6402T>G (p.Asn2134Lys) c.6033T>G (p.Asn2011Lys) n.6402T>G | dbSNP |
13 | g.32340760_32340764del | CA023991 | BRCA2 | c.6405_6409del (p.Asn2135LysfsTer3) c.6036_6040del (p.Asn2012LysfsTer3) n.6405_6409del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340758A= | CA2082814116 | BRCA2 | c.6403A= (p.Asn2135=) c.6034A= (p.Asn2012=) n.6403A= | |
13 | g.32340758A>C | CA023994 | BRCA2 | c.6403A>C (p.Asn2135His) c.6034A>C (p.Asn2012His) n.6403A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340758A>G | CA387789241 | BRCA2 | c.6403A>G (p.Asn2135Asp) c.6034A>G (p.Asn2012Asp) n.6403A>G | |
13 | g.32340758A>T | CA387789242 | BRCA2 | c.6403A>T (p.Asn2135Tyr) c.6034A>T (p.Asn2012Tyr) n.6403A>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340758_32340762delinsAACTT | CA2082814109 | BRCA2 | c.6403_6407delinsAACTT (p.Asn2135=) c.6034_6038delinsAACTT (p.Asn2012=) n.6403_6407delinsAACTT | |
13 | g.32340759A>C | CA387789243 | BRCA2 | c.6404A>C (p.Asn2135Thr) c.6035A>C (p.Asn2012Thr) n.6404A>C | |
13 | g.32340759A>G | CA387789244 | BRCA2 | c.6404A>G (p.Asn2135Ser) c.6035A>G (p.Asn2012Ser) n.6404A>G | ClinVar dbSNP |
13 | g.32340759A>T | CA387789245 | BRCA2 | c.6404A>T (p.Asn2135Ile) c.6035A>T (p.Asn2012Ile) n.6404A>T | dbSNP |
13 | g.32340760_32340763del | CA023996 | BRCA2 | c.6405_6408del (p.Asn2135LysfsTer?) c.6036_6039del (p.Asn2012LysfsTer?) n.6405_6408del | ClinVar dbSNP |
13 | g.32340760C>A | CA387789247 | BRCA2 | c.6405C>A (p.Asn2135Lys) c.6036C>A (p.Asn2012Lys) n.6405C>A | dbSNP |
13 | g.32340760C>G | CA387789246 | BRCA2 | c.6405C>G (p.Asn2135Lys) c.6036C>G (p.Asn2012Lys) n.6405C>G | dbSNP gnomAD v4 |
13 | g.32340760C>T | CA483438849 | BRCA2 | c.6405C>T (p.Asn2135=) c.6036C>T (p.Asn2012=) n.6405C>T | dbSNP |
13 | g.32340760_32340762delinsCTT | CA2082814123 | BRCA2 | c.6405_6407delinsCTT (p.Asn2135=) c.6036_6038delinsCTT (p.Asn2012=) n.6405_6407delinsCTT | |
13 | g.32340760_32340765delinsCTTAAA | CA2082814122 | BRCA2 | c.6405_6410delinsCTTAAA (p.Asn2135=) c.6036_6041delinsCTTAAA (p.Asn2012=) n.6405_6410delinsCTTAAA | |
13 | g.32340760_32340767delinsCTTAAATG | CA2082814124 | BRCA2 | c.6405_6412delinsCTTAAATG (p.Asn2135=) c.6036_6043delinsCTTAAATG (p.Asn2012=) n.6405_6412delinsCTTAAATG | |
13 | g.32340761T>A | CA387789248 | BRCA2 | c.6406T>A (p.Leu2136Ile) c.6037T>A (p.Leu2013Ile) n.6406T>A | ClinVar dbSNP |
13 | g.32340761T>C | CA483438850 | BRCA2 | c.6406T>C (p.Leu2136=) c.6037T>C (p.Leu2013=) n.6406T>C | gnomAD v4 |
13 | g.32340761T>G | CA387789249 | BRCA2 | c.6406T>G (p.Leu2136Val) c.6037T>G (p.Leu2013Val) n.6406T>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340761T= | CA2082814144 | BRCA2 | c.6406T= (p.Leu2136=) c.6037T= (p.Leu2013=) n.6406T= | |
13 | g.32340761_32340762del | CA024002 | BRCA2 | c.6406_6407del (p.Leu2136LysfsTer3) c.6037_6038del (p.Leu2013LysfsTer3) n.6406_6407del | ClinVar dbSNP |
13 | g.32340762dup | CA2695199698 | BRCA2 | c.6407dup (p.Leu2136PhefsTer4) c.6038dup (p.Leu2013PhefsTer4) n.6407dup | ClinVar |
13 | g.32340762_32340766del | CA024004 | BRCA2 | c.6407_6411del (p.Leu2136CysfsTer2) c.6038_6042del (p.Leu2013CysfsTer2) n.6407_6411del | ClinVar dbSNP |
13 | g.32340763_32340769del | CA024006 | BRCA2 | c.6408_6414del (p.Asn2137LysfsTer29) c.6039_6045del (p.Asn2014LysfsTer29) n.6408_6414del | ClinVar dbSNP |
13 | g.32340762T>A | CA387789250 | BRCA2 | c.6407T>A (p.Leu2136Ter) c.6038T>A (p.Leu2013Ter) n.6407T>A | |
13 | g.32340762T>C | CA387789251 | BRCA2 | c.6407T>C (p.Leu2136Ser) c.6038T>C (p.Leu2013Ser) n.6407T>C | |
13 | g.32340762T>G | CA387789252 | BRCA2 | c.6407T>G (p.Leu2136Ter) c.6038T>G (p.Leu2013Ter) n.6407T>G | ClinVar dbSNP |
13 | g.32340762_32340763delinsTA | CA2082814153 | BRCA2 | c.6407_6408delinsTA (p.Leu2136=) c.6038_6039delinsTA (p.Leu2013=) n.6407_6408delinsTA | |
13 | g.32340763_32340766dup | CA658683804 | BRCA2 | c.6408_6411dup (p.Val2138LysfsTer3) c.6039_6042dup (p.Val2015LysfsTer3) n.6408_6411dup | ClinVar dbSNP |
13 | g.32340763A>C | CA387789253 | BRCA2 | c.6408A>C (p.Leu2136Phe) c.6039A>C (p.Leu2013Phe) n.6408A>C | |
13 | g.32340763A>G | CA483438851 | BRCA2 | c.6408A>G (p.Leu2136=) c.6039A>G (p.Leu2013=) n.6408A>G | |
13 | g.32340763A>T | CA387789254 | BRCA2 | c.6408A>T (p.Leu2136Phe) c.6039A>T (p.Leu2013Phe) n.6408A>T | ClinVar dbSNP |
13 | g.32340765dup | CA10586557 | BRCA2 | c.6410dup (p.Asn2137LysfsTer3) c.6041dup (p.Asn2014LysfsTer3) n.6410dup | ClinVar dbSNP |
13 | g.32340765del | CA10589375 | BRCA2 | c.6410del (p.Asn2137MetfsTer?) c.6041del (p.Asn2014MetfsTer?) n.6410del | ClinVar dbSNP |
13 | g.32340764_32340765del | CA2499222235 | BRCA2 | c.6409_6410del (p.Asn2137CysfsTer2) c.6040_6041del (p.Asn2014CysfsTer2) n.6409_6410del | ClinVar dbSNP |
13 | g.32340764A= | CA2082814167 | BRCA2 | c.6409A= (p.Asn2137=) c.6040A= (p.Asn2014=) n.6409A= | |
13 | g.32340764A>C | CA387789255 | BRCA2 | c.6409A>C (p.Asn2137His) c.6040A>C (p.Asn2014His) n.6409A>C | |
13 | g.32340764A>G | CA387789256 | BRCA2 | c.6409A>G (p.Asn2137Asp) c.6040A>G (p.Asn2014Asp) n.6409A>G | ClinVar dbSNP |
13 | g.32340764A>T | CA387789257 | BRCA2 | c.6409A>T (p.Asn2137Tyr) c.6040A>T (p.Asn2014Tyr) n.6409A>T | dbSNP |
13 | g.32340765A= | CA2082814172 | BRCA2 | c.6410A= (p.Asn2137=) c.6041A= (p.Asn2014=) n.6410A= | |
13 | g.32340765A>C | CA387789258 | BRCA2 | c.6410A>C (p.Asn2137Thr) c.6041A>C (p.Asn2014Thr) n.6410A>C | ClinVar |
13 | g.32340765A>G | CA387789260 | BRCA2 | c.6410A>G (p.Asn2137Ser) c.6041A>G (p.Asn2014Ser) n.6410A>G | ClinVar dbSNP gnomAD v4 |