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.32340886_32340889del | CA024136 | BRCA2 | c.6531_6534del (p.Ile2177MetfsTer13) c.6162_6165del (p.Ile2054MetfsTer13) n.6531_6534del | ClinVar dbSNP |
13 | g.32340883_32340890dup | CA10589386 | BRCA2 | c.6528_6535dup (p.Val2179AlafsTer15) c.6159_6166dup (p.Val2056AlafsTer15) n.6528_6535dup | ClinVar dbSNP gnomAD v4 |
13 | g.32340888_32340893del | CA2573053818 | BRCA2 | c.6533_6538del (p.His2178_Val2179del) c.6164_6169del (p.His2055_Val2056del) n.6533_6538del | ClinVar dbSNP |
13 | g.32340889T>A | CA387789680 | BRCA2 | c.6534T>A (p.His2178Gln) c.6165T>A (p.His2055Gln) n.6534T>A | dbSNP |
13 | g.32340889T>C | CA6940967 | BRCA2 | c.6534T>C (p.His2178=) c.6165T>C (p.His2055=) n.6534T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340889T>G | CA387789684 | BRCA2 | c.6534T>G (p.His2178Gln) c.6165T>G (p.His2055Gln) n.6534T>G | |
13 | g.32340889T= | CA2082815605 | BRCA2 | c.6534T= (p.His2178=) c.6165T= (p.His2055=) n.6534T= | |
13 | g.32340889_32340890insA | CA658823578 | BRCA2 | c.6534_6535insA (p.Val2179SerfsTer10) c.6165_6166insA (p.Val2056SerfsTer10) n.6534_6535insA | ClinVar dbSNP |
13 | g.32340890G>A | CA387789694 | BRCA2 | c.6535G>A (p.Val2179Ile) c.6166G>A (p.Val2056Ile) n.6535G>A | ClinVar |
13 | g.32340890G>C | CA10579701 | BRCA2 | c.6535G>C (p.Val2179Leu) c.6166G>C (p.Val2056Leu) n.6535G>C | ClinVar dbSNP |
13 | g.32340890G= | CA2082815621 | BRCA2 | c.6535G= (p.Val2179=) c.6166G= (p.Val2056=) n.6535G= | |
13 | g.32340890G>T | CA387789691 | BRCA2 | c.6535G>T (p.Val2179Phe) c.6166G>T (p.Val2056Phe) n.6535G>T | |
13 | g.32340890dup | CA024149 | BRCA2 | c.6535dup (p.Val2179GlyfsTer10) c.6166dup (p.Val2056GlyfsTer10) n.6535dup | ClinVar dbSNP |
13 | g.32340890_32340891insA | CA024147 | BRCA2 | c.6535_6536insA (p.Val2179AspfsTer10) c.6166_6167insA (p.Val2056AspfsTer10) n.6535_6536insA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340891T>A | CA387789699 | BRCA2 | c.6536T>A (p.Val2179Asp) c.6167T>A (p.Val2056Asp) n.6536T>A | dbSNP |
13 | g.32340891T>C | CA387789701 | BRCA2 | c.6536T>C (p.Val2179Ala) c.6167T>C (p.Val2056Ala) n.6536T>C | dbSNP |
13 | g.32340891T>G | CA387789703 | BRCA2 | c.6536T>G (p.Val2179Gly) c.6167T>G (p.Val2056Gly) n.6536T>G | dbSNP |
13 | g.32340891T= | CA2082815631 | BRCA2 | c.6536T= (p.Val2179=) c.6167T= (p.Val2056=) n.6536T= | |
13 | g.32340894del | CA2622600175 | BRCA2 | c.6539del (p.Leu2180TrpfsTer11) c.6170del (p.Leu2057TrpfsTer11) n.6539del | gnomAD v4 |
13 | g.32340891_32340892insA | CA10589389 | BRCA2 | c.6536_6537insA (p.Leu2180PhefsTer9) c.6167_6168insA (p.Leu2057PhefsTer9) n.6536_6537insA | ClinVar dbSNP |
13 | g.32340892T>A | CA483439101 | BRCA2 | c.6537T>A (p.Val2179=) c.6168T>A (p.Val2056=) n.6537T>A | dbSNP |
13 | g.32340892T>C | CA483439102 | BRCA2 | c.6537T>C (p.Val2179=) c.6168T>C (p.Val2056=) n.6537T>C | dbSNP |
13 | g.32340892T>G | CA483439103 | BRCA2 | c.6537T>G (p.Val2179=) c.6168T>G (p.Val2056=) n.6537T>G | COSMIC COSMIC |
13 | g.32340893T>A | CA387789707 | BRCA2 | c.6538T>A (p.Leu2180Met) c.6169T>A (p.Leu2057Met) n.6538T>A | dbSNP |
13 | g.32340893T>C | CA483439104 | BRCA2 | c.6538T>C (p.Leu2180=) c.6169T>C (p.Leu2057=) n.6538T>C | ClinVar dbSNP |
13 | g.32340893T>G | CA024151 | BRCA2 | c.6538T>G (p.Leu2180Val) c.6169T>G (p.Leu2057Val) n.6538T>G | ClinVar dbSNP |
13 | g.32340893T= | CA2082815640 | BRCA2 | c.6538T= (p.Leu2180=) c.6169T= (p.Leu2057=) n.6538T= | |
13 | g.32340894T>A | CA387789712 | BRCA2 | c.6539T>A (p.Leu2180Ter) c.6170T>A (p.Leu2057Ter) n.6539T>A | |
13 | g.32340894T>C | CA387789714 | BRCA2 | c.6539T>C (p.Leu2180Ser) c.6170T>C (p.Leu2057Ser) n.6539T>C | gnomAD v4 |
13 | g.32340894T>G | CA387789717 | BRCA2 | c.6539T>G (p.Leu2180Trp) c.6170T>G (p.Leu2057Trp) n.6539T>G | |
13 | g.32340895G>A | CA483439105 | BRCA2 | c.6540G>A (p.Leu2180=) c.6171G>A (p.Leu2057=) n.6540G>A | dbSNP |
13 | g.32340895G>C | CA024153 | BRCA2 | c.6540G>C (p.Leu2180Phe) c.6171G>C (p.Leu2057Phe) n.6540G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340895G= | CA2082815644 | BRCA2 | c.6540G= (p.Leu2180=) c.6171G= (p.Leu2057=) n.6540G= | |
13 | g.32340895G>T | CA387789721 | BRCA2 | c.6540G>T (p.Leu2180Phe) c.6171G>T (p.Leu2057Phe) n.6540G>T | dbSNP |
13 | g.32340897del | CA2695217839 | BRCA2 | c.6542del (p.Gly2181GlufsTer10) c.6173del (p.Gly2058GlufsTer10) n.6542del | |
13 | g.32340896G>A | CA16607475 | BRCA2 | c.6541G>A (p.Gly2181Arg) c.6172G>A (p.Gly2058Arg) n.6541G>A | ClinVar dbSNP |
13 | g.32340896G>C | CA024155 | BRCA2 | c.6541G>C (p.Gly2181Arg) c.6172G>C (p.Gly2058Arg) n.6541G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340896G= | CA2082815660 | BRCA2 | c.6541G= (p.Gly2181=) c.6172G= (p.Gly2058=) n.6541G= | |
13 | g.32340896G>T | CA10589390 | BRCA2 | c.6541G>T (p.Gly2181Ter) c.6172G>T (p.Gly2058Ter) n.6541G>T | ClinVar dbSNP |
13 | g.32340897G>A | CA247514009 | BRCA2 | c.6542G>A (p.Gly2181Glu) c.6173G>A (p.Gly2058Glu) n.6542G>A | dbSNP |
13 | g.32340897G>C | CA387789730 | BRCA2 | c.6542G>C (p.Gly2181Ala) c.6173G>C (p.Gly2058Ala) n.6542G>C | |
13 | g.32340897G= | CA2082815673 | BRCA2 | c.6542G= (p.Gly2181=) c.6173G= (p.Gly2058=) n.6542G= | |
13 | g.32340897G>T | CA387789733 | BRCA2 | c.6542G>T (p.Gly2181Val) c.6173G>T (p.Gly2058Val) n.6542G>T | dbSNP |
13 | g.32340898A= | CA2082815684 | BRCA2 | c.6543A= (p.Gly2181=) c.6174A= (p.Gly2058=) n.6543A= | |
13 | g.32340898A>C | CA483439106 | BRCA2 | c.6543A>C (p.Gly2181=) c.6174A>C (p.Gly2058=) n.6543A>C | ClinVar |
13 | g.32340898A>G | CA483439107 | BRCA2 | c.6543A>G (p.Gly2181=) c.6174A>G (p.Gly2058=) n.6543A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340898A>T | CA483439108 | BRCA2 | c.6543A>T (p.Gly2181=) c.6174A>T (p.Gly2058=) n.6543A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32340901dup | CA2798719263 | BRCA2 | c.6546dup (p.Glu2183ArgfsTer6) c.6177dup (p.Glu2060ArgfsTer6) n.6546dup |