| 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.32340888_32340893del | CA2573053818 | BRCA2 | c.6533_6538del (p.His2178_Val2179del) c.6164_6169del (p.His2055_Val2056del) n.6533_6538del | ClinVar dbSNP |
| 13 | g.32340894del | CA2622600175 | BRCA2 | c.6539del (p.Leu2180TrpfsTer11) c.6170del (p.Leu2057TrpfsTer11) n.6539del | gnomAD v4 |
| 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.32340899A>C | CA387789743 | BRCA2 | c.6544A>C (p.Lys2182Gln) c.6175A>C (p.Lys2059Gln) n.6544A>C | |
| 13 | g.32340899A>G | CA387789737 | BRCA2 | c.6544A>G (p.Lys2182Glu) c.6175A>G (p.Lys2059Glu) n.6544A>G | |
| 13 | g.32340899A>T | CA387789739 | BRCA2 | c.6544A>T (p.Lys2182Ter) c.6175A>T (p.Lys2059Ter) n.6544A>T | |
| 13 | g.32340900A= | CA2082815689 | BRCA2 | c.6545A= (p.Lys2182=) c.6176A= (p.Lys2059=) n.6545A= | |
| 13 | g.32340900A>C | CA387789745 | BRCA2 | c.6545A>C (p.Lys2182Thr) c.6176A>C (p.Lys2059Thr) n.6545A>C | |
| 13 | g.32340900A>G | CA387789747 | BRCA2 | c.6545A>G (p.Lys2182Arg) c.6176A>G (p.Lys2059Arg) n.6545A>G | ClinVar dbSNP |
| 13 | g.32340900A>T | CA387789750 | BRCA2 | c.6545A>T (p.Lys2182Ile) c.6176A>T (p.Lys2059Ile) n.6545A>T | |
| 13 | g.32340901A= | CA2082815698 | BRCA2 | c.6546A= (p.Lys2182=) c.6177A= (p.Lys2059=) n.6546A= | |
| 13 | g.32340901A>C | CA387789752 | BRCA2 | c.6546A>C (p.Lys2182Asn) c.6177A>C (p.Lys2059Asn) n.6546A>C | |
| 13 | g.32340901A>G | CA247514020 | BRCA2 | c.6546A>G (p.Lys2182=) c.6177A>G (p.Lys2059=) n.6546A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340901A>T | CA387789755 | BRCA2 | c.6546A>T (p.Lys2182Asn) c.6177A>T (p.Lys2059Asn) n.6546A>T | dbSNP |
| 13 | g.32340901_32340902delinsAG | CA2082815706 | BRCA2 | c.6546_6547delinsAG (p.Lys2182=) c.6177_6178delinsAG (p.Lys2059=) n.6546_6547delinsAG | |
| 13 | g.32340901_32340905delinsAGAAC | CA2082815710 | BRCA2 | c.6546_6550delinsAGAAC (p.Lys2182=) c.6177_6181delinsAGAAC (p.Lys2059=) n.6546_6550delinsAGAAC | |
| 13 | g.32340902del | CA916080216 | BRCA2 | c.6547del (p.Glu2183AsnfsTer8) c.6178del (p.Glu2060AsnfsTer8) n.6547del | ClinVar dbSNP |
| 13 | g.32340902G>A | CA387789758 | BRCA2 | c.6547G>A (p.Glu2183Lys) c.6178G>A (p.Glu2060Lys) n.6547G>A | dbSNP |
| 13 | g.32340902G>C | CA387789762 | BRCA2 | c.6547G>C (p.Glu2183Gln) c.6178G>C (p.Glu2060Gln) n.6547G>C | ClinVar dbSNP |
| 13 | g.32340902G= | CA2082815723 | BRCA2 | c.6547G= (p.Glu2183=) c.6178G= (p.Glu2060=) n.6547G= | |
| 13 | g.32340902G>T | CA024157 | BRCA2 | c.6547G>T (p.Glu2183Ter) c.6178G>T (p.Glu2060Ter) n.6547G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340902_32340905del | CA1139663239 | BRCA2 | c.6547_6550del (p.Glu2183ArgfsTer7) c.6178_6181del (p.Glu2060ArgfsTer7) n.6547_6550del | ClinVar dbSNP |
| 13 | g.32340903A= | CA2082815731 | BRCA2 | c.6548A= (p.Glu2183=) c.6179A= (p.Glu2060=) n.6548A= | |
| 13 | g.32340903A>C | CA387789765 | BRCA2 | c.6548A>C (p.Glu2183Ala) c.6179A>C (p.Glu2060Ala) n.6548A>C | |
| 13 | g.32340903A>G | CA387789769 | BRCA2 | c.6548A>G (p.Glu2183Gly) c.6179A>G (p.Glu2060Gly) n.6548A>G |