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.32340707_32340708del | CA023942 | BRCA2 | c.6352_6353del (p.Val2118LysfsTer10) c.5983_5984del (p.Val1995LysfsTer10) n.6352_6353del | ClinVar dbSNP |
13 | g.32340705_32340719delinsGTGTAAACTCAGAAA | CA2082813625 | BRCA2 | c.6350_6364delinsGTGTAAACTCAGAAA (p.Cys2117=) c.5981_5995delinsGTGTAAACTCAGAAA (p.Cys1994=) n.6350_6364delinsGTGTAAACTCAGAAA | |
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= | |
13 | g.32340714C>G | CA023950 | BRCA2 | c.6359C>G (p.Ser2120Ter) c.5990C>G (p.Ser1997Ter) n.6359C>G | ClinVar dbSNP |
13 | g.32340714C>T | CA387789145 | BRCA2 | c.6359C>T (p.Ser2120Leu) c.5990C>T (p.Ser1997Leu) n.6359C>T | dbSNP gnomAD v2 |
13 | g.32340714_32340716delinsCAG | CA2082813706 | BRCA2 | c.6359_6361delinsCAG (p.Ser2120=) c.5990_5992delinsCAG (p.Ser1997=) n.6359_6361delinsCAG | |
13 | g.32340714_32340720delinsCAGAAAT | CA2082813707 | BRCA2 | c.6359_6365delinsCAGAAAT (p.Ser2120=) c.5990_5996delinsCAGAAAT (p.Ser1997=) n.6359_6365delinsCAGAAAT | |
13 | g.32340715A>C | CA483438829 | BRCA2 | c.6360A>C (p.Ser2120=) c.5991A>C (p.Ser1997=) n.6360A>C | |
13 | g.32340715A>G | CA483438828 | BRCA2 | c.6360A>G (p.Ser2120=) c.5991A>G (p.Ser1997=) n.6360A>G | dbSNP |
13 | g.32340715A>T | CA483438830 | BRCA2 | c.6360A>T (p.Ser2120=) c.5991A>T (p.Ser1997=) n.6360A>T | dbSNP |
13 | g.32340716_32340717del | CA10586555 | BRCA2 | c.6361_6362del (p.Glu2121AsnfsTer7) c.5992_5993del (p.Glu1998AsnfsTer7) n.6361_6362del | ClinVar dbSNP |
13 | g.32340715_32340720del | CA658656331 | BRCA2 | c.6360_6365del (p.Glu2121_Met2122del) c.5991_5996del (p.Glu1998_Met1999del) n.6360_6365del | ClinVar dbSNP |
13 | g.32340716del | CA2622599894 | BRCA2 | c.6361del (p.Glu2121LysfsTer16) c.5992del (p.Glu1998LysfsTer16) n.6361del | gnomAD v4 |
13 | g.32340716G>A | CA023952 | BRCA2 | c.6361G>A (p.Glu2121Lys) c.5992G>A (p.Glu1998Lys) n.6361G>A | ClinVar dbSNP gnomAD v2 |
13 | g.32340716G>C | CA387789146 | BRCA2 | c.6361G>C (p.Glu2121Gln) c.5992G>C (p.Glu1998Gln) n.6361G>C | dbSNP gnomAD v4 |
13 | g.32340716G= | CA2082813728 | BRCA2 | c.6361G= (p.Glu2121=) c.5992G= (p.Glu1998=) n.6361G= |