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.32340699A= | CA2082813578 | BRCA2 | c.6344A= (p.Glu2115=) c.5975A= (p.Glu1992=) n.6344A= | |
13 | g.32340699A>C | CA387789111 | BRCA2 | c.6344A>C (p.Glu2115Ala) c.5975A>C (p.Glu1992Ala) n.6344A>C | |
13 | g.32340699A>G | CA023933 | BRCA2 | c.6344A>G (p.Glu2115Gly) c.5975A>G (p.Glu1992Gly) n.6344A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340699A>T | CA387789112 | BRCA2 | c.6344A>T (p.Glu2115Val) c.5975A>T (p.Glu1992Val) n.6344A>T | ClinVar dbSNP |
13 | g.32340700G>A | CA483438821 | BRCA2 | c.6345G>A (p.Glu2115=) c.5976G>A (p.Glu1992=) n.6345G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340700G>C | CA387789114 | BRCA2 | c.6345G>C (p.Glu2115Asp) c.5976G>C (p.Glu1992Asp) n.6345G>C | ClinVar dbSNP |
13 | g.32340700G= | CA2082813588 | BRCA2 | c.6345G= (p.Glu2115=) c.5976G= (p.Glu1992=) n.6345G= | |
13 | g.32340700G>T | CA387789113 | BRCA2 | c.6345G>T (p.Glu2115Asp) c.5976G>T (p.Glu1992Asp) n.6345G>T | dbSNP |
13 | g.32340701C>A | CA387789115 | BRCA2 | c.6346C>A (p.His2116Asn) c.5977C>A (p.His1993Asn) n.6346C>A | dbSNP |
13 | g.32340701C>G | CA387789116 | BRCA2 | c.6346C>G (p.His2116Asp) c.5977C>G (p.His1993Asp) n.6346C>G | ClinVar dbSNP |
13 | g.32340701C>T | CA387789117 | BRCA2 | c.6346C>T (p.His2116Tyr) c.5977C>T (p.His1993Tyr) n.6346C>T | dbSNP gnomAD v4 |
13 | g.32340702A= | CA2082813599 | BRCA2 | c.6347A= (p.His2116=) c.5978A= (p.His1993=) n.6347A= | |
13 | g.32340702A>C | CA387789118 | BRCA2 | c.6347A>C (p.His2116Pro) c.5978A>C (p.His1993Pro) n.6347A>C | |
13 | g.32340702A>G | CA023937 | BRCA2 | c.6347A>G (p.His2116Arg) c.5978A>G (p.His1993Arg) n.6347A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340702A>T | CA10579690 | BRCA2 | c.6347A>T (p.His2116Leu) c.5978A>T (p.His1993Leu) n.6347A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340705_32340713del | CA2622599890 | BRCA2 | c.6350_6358del (p.Cys2117_Asn2119del) c.5981_5989del (p.Cys1994_Asn1996del) n.6350_6358del | gnomAD v4 |
13 | g.32340703del | CA2499222230 | BRCA2 | c.6348del (p.Cys2117ValfsTer2) c.5979del (p.Cys1994ValfsTer2) n.6348del | ClinVar |
13 | g.32340703C>A | CA387789119 | BRCA2 | c.6348C>A (p.His2116Gln) c.5979C>A (p.His1993Gln) n.6348C>A | dbSNP |
13 | g.32340703C= | CA2082813615 | BRCA2 | c.6348C= (p.His2116=) c.5979C= (p.His1993=) n.6348C= | |
13 | g.32340703C>G | CA387789120 | BRCA2 | c.6348C>G (p.His2116Gln) c.5979C>G (p.His1993Gln) n.6348C>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340703C>T | CA483438822 | BRCA2 | c.6348C>T (p.His2116=) c.5979C>T (p.His1993=) n.6348C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340703_32340705delinsCTG | CA2082813609 | BRCA2 | c.6348_6350delinsCTG (p.His2116=) c.5979_5981delinsCTG (p.His1993=) n.6348_6350delinsCTG | |
13 | g.32340704T>A | CA387789123 | BRCA2 | c.6349T>A (p.Cys2117Ser) c.5980T>A (p.Cys1994Ser) n.6349T>A | dbSNP |
13 | g.32340704T>C | CA387789122 | BRCA2 | c.6349T>C (p.Cys2117Arg) c.5980T>C (p.Cys1994Arg) n.6349T>C | dbSNP |
13 | g.32340704T>G | CA387789121 | BRCA2 | c.6349T>G (p.Cys2117Gly) c.5980T>G (p.Cys1994Gly) n.6349T>G | gnomAD v4 |
13 | g.32340704dup | CA023940 | BRCA2 | c.6349dup (p.Cys2117LeufsTer12) c.5980dup (p.Cys1994LeufsTer12) n.6349dup | ClinVar dbSNP |
13 | g.32340707_32340708del | CA023942 | BRCA2 | c.6352_6353del (p.Val2118LysfsTer10) c.5983_5984del (p.Val1995LysfsTer10) n.6352_6353del | ClinVar dbSNP |
13 | g.32340705G>A | CA387789124 | BRCA2 | c.6350G>A (p.Cys2117Tyr) c.5981G>A (p.Cys1994Tyr) n.6350G>A | ClinVar dbSNP |
13 | g.32340705G>C | CA387789125 | BRCA2 | c.6350G>C (p.Cys2117Ser) c.5981G>C (p.Cys1994Ser) n.6350G>C | ClinVar dbSNP |
13 | g.32340705G= | CA2082813626 | BRCA2 | c.6350G= (p.Cys2117=) c.5981G= (p.Cys1994=) n.6350G= | |
13 | g.32340705G>T | CA387789126 | BRCA2 | c.6350G>T (p.Cys2117Phe) c.5981G>T (p.Cys1994Phe) n.6350G>T | |
13 | g.32340705_32340719delinsGTGTAAACTCAGAAA | CA2082813625 | BRCA2 | c.6350_6364delinsGTGTAAACTCAGAAA (p.Cys2117=) c.5981_5995delinsGTGTAAACTCAGAAA (p.Cys1994=) n.6350_6364delinsGTGTAAACTCAGAAA | |
13 | g.32340706T>A | CA10579691 | BRCA2 | c.6351T>A (p.Cys2117Ter) c.5982T>A (p.Cys1994Ter) n.6351T>A | ClinVar dbSNP |
13 | g.32340706T>C | CA483438823 | BRCA2 | c.6351T>C (p.Cys2117=) c.5982T>C (p.Cys1994=) n.6351T>C | dbSNP |
13 | g.32340706T>G | CA387789127 | BRCA2 | c.6351T>G (p.Cys2117Trp) c.5982T>G (p.Cys1994Trp) n.6351T>G | ClinVar dbSNP |
13 | g.32340706T= | CA2082813647 | BRCA2 | c.6351T= (p.Cys2117=) c.5982T= (p.Cys1994=) n.6351T= | |
13 | g.32340708_32340721del | CA023946 | BRCA2 | c.6353_6366del (p.Val2118GlyfsTer6) c.5984_5997del (p.Val1995GlyfsTer6) n.6353_6366del | ClinVar dbSNP |
13 | g.32340707G>A | CA387789128 | BRCA2 | c.6352G>A (p.Val2118Ile) c.5983G>A (p.Val1995Ile) n.6352G>A | dbSNP gnomAD v4 |
13 | g.32340707G>C | CA387789130 | BRCA2 | c.6352G>C (p.Val2118Leu) c.5983G>C (p.Val1995Leu) n.6352G>C | dbSNP |
13 | g.32340707G>T | CA387789129 | BRCA2 | c.6352G>T (p.Val2118Leu) c.5983G>T (p.Val1995Leu) n.6352G>T | ClinVar |
13 | g.32340708T>A | CA387789131 | BRCA2 | c.6353T>A (p.Val2118Glu) c.5984T>A (p.Val1995Glu) n.6353T>A | |
13 | g.32340708T>C | CA387789132 | BRCA2 | c.6353T>C (p.Val2118Ala) c.5984T>C (p.Val1995Ala) n.6353T>C | |
13 | g.32340708T>G | CA387789133 | BRCA2 | c.6353T>G (p.Val2118Gly) c.5984T>G (p.Val1995Gly) n.6353T>G | dbSNP |
13 | g.32340708T= | CA2082813658 | BRCA2 | c.6353T= (p.Val2118=) c.5984T= (p.Val1995=) n.6353T= | |
13 | g.32340709A>C | CA483438824 | BRCA2 | c.6354A>C (p.Val2118=) c.5985A>C (p.Val1995=) n.6354A>C | |
13 | g.32340709A>G | CA483438825 | BRCA2 | c.6354A>G (p.Val2118=) c.5985A>G (p.Val1995=) n.6354A>G | |
13 | g.32340709A>T | CA483438826 | BRCA2 | c.6354A>T (p.Val2118=) c.5985A>T (p.Val1995=) n.6354A>T | dbSNP |
13 | g.32340711dup | CA10589371 | BRCA2 | c.6356dup (p.Asn2119LysfsTer10) c.5987dup (p.Asn1996LysfsTer10) n.6356dup | ClinVar dbSNP |