| 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.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 | |
| 13 | g.32340903A>T | CA16619750 | BRCA2 | c.6548A>T (p.Glu2183Val) c.6179A>T (p.Glu2060Val) n.6548A>T | ClinVar dbSNP |
| 13 | g.32340904A= | CA2082815739 | BRCA2 | c.6549A= (p.Glu2183=) c.6180A= (p.Glu2060=) n.6549A= | |
| 13 | g.32340904A>C | CA387789772 | BRCA2 | c.6549A>C (p.Glu2183Asp) c.6180A>C (p.Glu2060Asp) n.6549A>C | |
| 13 | g.32340904A>G | CA483439109 | BRCA2 | c.6549A>G (p.Glu2183=) c.6180A>G (p.Glu2060=) n.6549A>G | gnomAD v4 |
| 13 | g.32340904A>T | CA387789775 | BRCA2 | c.6549A>T (p.Glu2183Asp) c.6180A>T (p.Glu2060Asp) n.6549A>T | ClinVar dbSNP |
| 13 | g.32340904_32340905delinsAC | CA2082815738 | BRCA2 | c.6549_6550delinsAC (p.Glu2183=) c.6180_6181delinsAC (p.Glu2060=) n.6549_6550delinsAC | |
| 13 | g.32340905del | CA919242732 | BRCA2 | c.6550del (p.Gln2184ArgfsTer7) c.6181del (p.Gln2061ArgfsTer7) n.6550del | dbSNP |
| 13 | g.32340905C>A | CA387789777 | BRCA2 | c.6550C>A (p.Gln2184Lys) c.6181C>A (p.Gln2061Lys) n.6550C>A | ClinVar dbSNP |
| 13 | g.32340905C= | CA2082815753 | BRCA2 | c.6550C= (p.Gln2184=) c.6181C= (p.Gln2061=) n.6550C= | |
| 13 | g.32340905C>G | CA024160 | BRCA2 | c.6550C>G (p.Gln2184Glu) c.6181C>G (p.Gln2061Glu) n.6550C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340905C>T | CA16043340 | BRCA2 | c.6550C>T (p.Gln2184Ter) c.6181C>T (p.Gln2061Ter) n.6550C>T | ClinVar dbSNP |
| 13 | g.32340906A= | CA2082815766 | BRCA2 | c.6551A= (p.Gln2184=) c.6182A= (p.Gln2061=) n.6551A= | |
| 13 | g.32340906A>C | CA387789783 | BRCA2 | c.6551A>C (p.Gln2184Pro) c.6182A>C (p.Gln2061Pro) n.6551A>C | |
| 13 | g.32340906A>G | CA387789786 | BRCA2 | c.6551A>G (p.Gln2184Arg) c.6182A>G (p.Gln2061Arg) n.6551A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340906A>T | CA387789792 | BRCA2 | c.6551A>T (p.Gln2184Leu) c.6182A>T (p.Gln2061Leu) n.6551A>T | dbSNP |
| 13 | g.32340906_32340907delinsAG | CA2082815767 | BRCA2 | c.6551_6552delinsAG (p.Gln2184=) c.6182_6183delinsAG (p.Gln2061=) n.6551_6552delinsAG | |
| 13 | g.32340907G>A | CA483439110 | BRCA2 | c.6552G>A (p.Gln2184=) c.6183G>A (p.Gln2061=) n.6552G>A | dbSNP COSMIC COSMIC |
| 13 | g.32340907G>C | CA387789795 | BRCA2 | c.6552G>C (p.Gln2184His) c.6183G>C (p.Gln2061His) n.6552G>C | dbSNP |
| 13 | g.32340907G>T | CA387789799 | BRCA2 | c.6552G>T (p.Gln2184His) c.6183G>T (p.Gln2061His) n.6552G>T | dbSNP |
| 13 | g.32340908del | CA024162 | BRCA2 | c.6553del (p.Ala2185LeufsTer6) c.6184del (p.Ala2062LeufsTer6) n.6553del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340908G>A | CA024164 | BRCA2 | c.6553G>A (p.Ala2185Thr) c.6184G>A (p.Ala2062Thr) n.6553G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340908G>C | CA387789803 | BRCA2 | c.6553G>C (p.Ala2185Pro) c.6184G>C (p.Ala2062Pro) n.6553G>C | ClinVar dbSNP gnomAD v4 |