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.32340705_32340713del | CA2622599890 | BRCA2 | c.6350_6358del (p.Cys2117_Asn2119del) c.5981_5989del (p.Cys1994_Asn1996del) n.6350_6358del | 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 |
13 | g.32340710_32340711del | CA2573149191 | BRCA2 | c.6355_6356del (p.Asn2119LeufsTer9) c.5986_5987del (p.Asn1996LeufsTer9) n.6355_6356del | ClinVar dbSNP |
13 | g.32340709_32340712delinsAAAC | CA2082813667 | BRCA2 | c.6354_6357delinsAAAC (p.Val2118=) c.5985_5988delinsAAAC (p.Val1995=) n.6354_6357delinsAAAC | |
13 | g.32340709_32340710insG | CA1139768339 | BRCA2 | c.6354_6355insG (p.Asn2119GlufsTer10) c.5985_5986insG (p.Asn1996GlufsTer10) n.6354_6355insG | |
13 | g.32340710A>C | CA387789134 | BRCA2 | c.6355A>C (p.Asn2119His) c.5986A>C (p.Asn1996His) n.6355A>C | |
13 | g.32340710A>G | CA387789135 | BRCA2 | c.6355A>G (p.Asn2119Asp) c.5986A>G (p.Asn1996Asp) n.6355A>G | |
13 | g.32340710A>T | CA387789136 | BRCA2 | c.6355A>T (p.Asn2119Tyr) c.5986A>T (p.Asn1996Tyr) n.6355A>T | dbSNP |
13 | g.32340710_32340712delinsT | CA658656330 | BRCA2 | c.6355_6357delinsT (p.Asn2119PhefsTer9) c.5986_5988delinsT (p.Asn1996PhefsTer9) n.6355_6357delinsT | ClinVar dbSNP |
13 | g.32340711A= | CA2082813679 | BRCA2 | c.6356A= (p.Asn2119=) c.5987A= (p.Asn1996=) n.6356A= | |
13 | g.32340711A>C | CA387789137 | BRCA2 | c.6356A>C (p.Asn2119Thr) c.5987A>C (p.Asn1996Thr) n.6356A>C | |
13 | g.32340711A>G | CA387789138 | BRCA2 | c.6356A>G (p.Asn2119Ser) c.5987A>G (p.Asn1996Ser) n.6356A>G | |
13 | g.32340711A>T | CA387789139 | BRCA2 | c.6356A>T (p.Asn2119Ile) c.5987A>T (p.Asn1996Ile) n.6356A>T | ClinVar dbSNP |
13 | g.32340712C>A | CA387789140 | BRCA2 | c.6357C>A (p.Asn2119Lys) c.5988C>A (p.Asn1996Lys) n.6357C>A | dbSNP |
13 | g.32340712C= | CA2082813690 | BRCA2 | c.6357C= (p.Asn2119=) c.5988C= (p.Asn1996=) n.6357C= | |
13 | g.32340712C>G | CA16619741 | BRCA2 | c.6357C>G (p.Asn2119Lys) c.5988C>G (p.Asn1996Lys) n.6357C>G | ClinVar dbSNP gnomAD v2 |
13 | g.32340712C>T | CA483438827 | BRCA2 | c.6357C>T (p.Asn2119=) c.5988C>T (p.Asn1996=) n.6357C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340713T>A | CA387789141 | BRCA2 | c.6358T>A (p.Ser2120Thr) c.5989T>A (p.Ser1997Thr) n.6358T>A | dbSNP COSMIC COSMIC |
13 | g.32340713T>C | CA387789143 | BRCA2 | c.6358T>C (p.Ser2120Pro) c.5989T>C (p.Ser1997Pro) n.6358T>C | dbSNP |
13 | g.32340713T>G | CA387789142 | BRCA2 | c.6358T>G (p.Ser2120Ala) c.5989T>G (p.Ser1997Ala) n.6358T>G | |
13 | g.32340714C>A | CA387789144 | BRCA2 | c.6359C>A (p.Ser2120Ter) c.5990C>A (p.Ser1997Ter) n.6359C>A | ClinVar |
13 | g.32340714C= | CA2082813709 | BRCA2 | c.6359C= (p.Ser2120=) c.5990C= (p.Ser1997=) n.6359C= |