UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.32340901dup | CA2798719263 | BRCA2 | c.6546dup (p.Glu2183ArgfsTer6) c.6177dup (p.Glu2060ArgfsTer6) n.6546dup | |
| 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 |
| 13 | g.32340908G= | CA2082815787 | BRCA2 | c.6553G= (p.Ala2185=) c.6184G= (p.Ala2062=) n.6553G= | |
| 13 | g.32340908G>T | CA387789806 | BRCA2 | c.6553G>T (p.Ala2185Ser) c.6184G>T (p.Ala2062Ser) n.6553G>T | ClinVar dbSNP |
| 13 | g.32340909C>A | CA387789811 | BRCA2 | c.6554C>A (p.Ala2185Asp) c.6185C>A (p.Ala2062Asp) n.6554C>A | |
| 13 | g.32340909C= | CA2082815795 | BRCA2 | c.6554C= (p.Ala2185=) c.6185C= (p.Ala2062=) n.6554C= | |
| 13 | g.32340909C>G | CA387789813 | BRCA2 | c.6554C>G (p.Ala2185Gly) c.6185C>G (p.Ala2062Gly) n.6554C>G | dbSNP |
| 13 | g.32340909C>T | CA247514034 | BRCA2 | c.6554C>T (p.Ala2185Val) c.6185C>T (p.Ala2062Val) n.6554C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340909dup | CA916080217 | BRCA2 | c.6554dup (p.Ser2186PhefsTer3) c.6185dup (p.Ser2063PhefsTer3) n.6554dup | ClinVar dbSNP |
| 13 | g.32340910T>A | CA483439111 | BRCA2 | c.6555T>A (p.Ala2185=) c.6186T>A (p.Ala2062=) n.6555T>A | dbSNP |
| 13 | g.32340910T>C | CA483439112 | BRCA2 | c.6555T>C (p.Ala2185=) c.6186T>C (p.Ala2062=) n.6555T>C | |
| 13 | g.32340910T>G | CA483439113 | BRCA2 | c.6555T>G (p.Ala2185=) c.6186T>G (p.Ala2062=) n.6555T>G | |
| 13 | g.32340911T>A | CA387789823 | BRCA2 | c.6556T>A (p.Ser2186Thr) c.6187T>A (p.Ser2063Thr) n.6556T>A | ClinVar dbSNP |
| 13 | g.32340911T>C | CA387789821 | BRCA2 | c.6556T>C (p.Ser2186Pro) c.6187T>C (p.Ser2063Pro) n.6556T>C | dbSNP |
| 13 | g.32340911T>G | CA387789818 | BRCA2 | c.6556T>G (p.Ser2186Ala) c.6187T>G (p.Ser2063Ala) n.6556T>G | |
| 13 | g.32340911T= | CA2082815801 | BRCA2 | c.6556T= (p.Ser2186=) c.6187T= (p.Ser2063=) n.6556T= | |
| 13 | g.32340911_32340912insA | CA2695217840 | BRCA2 | c.6556_6557insA (p.Ser2186TyrfsTer3) c.6187_6188insA (p.Ser2063TyrfsTer3) n.6556_6557insA | |
| 13 | g.32340912C>A | CA024166 | BRCA2 | c.6557C>A (p.Ser2186Ter) c.6188C>A (p.Ser2063Ter) n.6557C>A | ClinVar dbSNP |
| 13 | g.32340912C= | CA2082815816 | BRCA2 | c.6557C= (p.Ser2186=) c.6188C= (p.Ser2063=) n.6557C= | |
| 13 | g.32340912C>G | CA10589391 | BRCA2 | c.6557C>G (p.Ser2186Ter) c.6188C>G (p.Ser2063Ter) n.6557C>G | ClinVar dbSNP |
| 13 | g.32340912C>T | CA16614339 | BRCA2 | c.6557C>T (p.Ser2186Leu) c.6188C>T (p.Ser2063Leu) n.6557C>T | ClinVar dbSNP |
| 13 | g.32340913A>C | CA483439114 | BRCA2 | c.6558A>C (p.Ser2186=) c.6189A>C (p.Ser2063=) n.6558A>C | |
| 13 | g.32340913A>G | CA483439115 | BRCA2 | c.6558A>G (p.Ser2186=) c.6189A>G (p.Ser2063=) n.6558A>G | dbSNP |
| 13 | g.32340913A>T | CA483439116 | BRCA2 | c.6558A>T (p.Ser2186=) c.6189A>T (p.Ser2063=) n.6558A>T | dbSNP |
| 13 | g.32340914C>A | CA247514046 | BRCA2 | c.6559C>A (p.Pro2187Thr) c.6190C>A (p.Pro2064Thr) n.6559C>A | dbSNP |
| 13 | g.32340914C= | CA2082815825 | BRCA2 | c.6559C= (p.Pro2187=) c.6190C= (p.Pro2064=) n.6559C= | |
| 13 | g.32340914C>G | CA387789829 | BRCA2 | c.6559C>G (p.Pro2187Ala) c.6190C>G (p.Pro2064Ala) n.6559C>G | dbSNP |
| 13 | g.32340914C>T | CA10577480 | BRCA2 | c.6559C>T (p.Pro2187Ser) c.6190C>T (p.Pro2064Ser) n.6559C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340915C>A | CA387789830 | BRCA2 | c.6560C>A (p.Pro2187His) c.6191C>A (p.Pro2064His) n.6560C>A | ClinVar |
| 13 | g.32340915C= | CA2082815836 | BRCA2 | c.6560C= (p.Pro2187=) c.6191C= (p.Pro2064=) n.6560C= | |
| 13 | g.32340915C>G | CA387789834 | BRCA2 | c.6560C>G (p.Pro2187Arg) c.6191C>G (p.Pro2064Arg) n.6560C>G | |
| 13 | g.32340915C>T | CA024168 | BRCA2 | c.6560C>T (p.Pro2187Leu) c.6191C>T (p.Pro2064Leu) n.6560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340916T>A | CA483439117 | BRCA2 | c.6561T>A (p.Pro2187=) c.6192T>A (p.Pro2064=) n.6561T>A | |
| 13 | g.32340916T>C | CA483439118 | BRCA2 | c.6561T>C (p.Pro2187=) c.6192T>C (p.Pro2064=) n.6561T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340916T>G | CA483439119 | BRCA2 | c.6561T>G (p.Pro2187=) c.6192T>G (p.Pro2064=) n.6561T>G | |
| 13 | g.32340916T= | CA2082815855 | BRCA2 | c.6561T= (p.Pro2187=) c.6192T= (p.Pro2064=) n.6561T= | |
| 13 | g.32340916_32340917delinsTA | CA2082815851 | BRCA2 | c.6561_6562delinsTA (p.Pro2187=) c.6192_6193delinsTA (p.Pro2064=) n.6561_6562delinsTA | |
| 13 | g.32340922_32340929del | CA2695199708 | BRCA2 | c.6567_6574del (p.Val2190GlyfsTer4) c.6198_6205del (p.Val2067GlyfsTer4) n.6567_6574del | ClinVar |
| 13 | g.32340917A= | CA2082815873 | BRCA2 | c.6562A= (p.Lys2188=) c.6193A= (p.Lys2065=) n.6562A= | |
| 13 | g.32340917A>C | CA387789836 | BRCA2 | c.6562A>C (p.Lys2188Gln) c.6193A>C (p.Lys2065Gln) n.6562A>C | |
| 13 | g.32340917A>G | CA387789838 | BRCA2 | c.6562A>G (p.Lys2188Glu) c.6193A>G (p.Lys2065Glu) n.6562A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340917A>T | CA387789840 | BRCA2 | c.6562A>T (p.Lys2188Ter) c.6193A>T (p.Lys2065Ter) n.6562A>T | |
| 13 | g.32340921dup | CA024170 | BRCA2 | c.6566dup (p.Asn2189LysfsTer8) c.6197dup (p.Asn2066LysfsTer8) n.6566dup | ClinVar dbSNP |
| 13 | g.32340921del | CA10589392 | BRCA2 | c.6566del (p.Asn2189ThrfsTer2) c.6197del (p.Asn2066ThrfsTer2) n.6566del | ClinVar dbSNP |
| 13 | g.32340917_32340924delinsAAAAACGT | CA2082815877 | BRCA2 | c.6562_6569delinsAAAAACGT (p.Lys2188=) c.6193_6200delinsAAAAACGT (p.Lys2065=) n.6562_6569delinsAAAAACGT | |
| 13 | g.32340918A>C | CA387789846 | BRCA2 | c.6563A>C (p.Lys2188Thr) c.6194A>C (p.Lys2065Thr) n.6563A>C | |
| 13 | g.32340918A>G | CA387789847 | BRCA2 | c.6563A>G (p.Lys2188Arg) c.6194A>G (p.Lys2065Arg) n.6563A>G | ClinVar |
| 13 | g.32340918A>T | CA387789849 | BRCA2 | c.6563A>T (p.Lys2188Ile) c.6194A>T (p.Lys2065Ile) n.6563A>T | |
| 13 | g.32340922_32340928del | CA10579702 | BRCA2 | c.6567_6573del (p.Asn2189LysfsTer15) c.6198_6204del (p.Asn2066LysfsTer15) n.6567_6573del | ClinVar dbSNP |
| 13 | g.32340919A>C | CA387789853 | BRCA2 | c.6564A>C (p.Lys2188Asn) c.6195A>C (p.Lys2065Asn) n.6564A>C | |
| 13 | g.32340919A>G | CA483439120 | BRCA2 | c.6564A>G (p.Lys2188=) c.6195A>G (p.Lys2065=) n.6564A>G | dbSNP |
| 13 | g.32340919A>T | CA387789856 | BRCA2 | c.6564A>T (p.Lys2188Asn) c.6195A>T (p.Lys2065Asn) n.6564A>T | |
| 13 | g.32340920A>C | CA387789859 | BRCA2 | c.6565A>C (p.Asn2189His) c.6196A>C (p.Asn2066His) n.6565A>C | |
| 13 | g.32340920A>G | CA387789862 | BRCA2 | c.6565A>G (p.Asn2189Asp) c.6196A>G (p.Asn2066Asp) n.6565A>G | dbSNP |
| 13 | g.32340920A>T | CA387789865 | BRCA2 | c.6565A>T (p.Asn2189Tyr) c.6196A>T (p.Asn2066Tyr) n.6565A>T | dbSNP |
| 13 | g.32340921A>C | CA387789869 | BRCA2 | c.6566A>C (p.Asn2189Thr) c.6197A>C (p.Asn2066Thr) n.6566A>C | |
| 13 | g.32340921A>G | CA387789872 | BRCA2 | c.6566A>G (p.Asn2189Ser) c.6197A>G (p.Asn2066Ser) n.6566A>G | dbSNP |
| 13 | g.32340921A>T | CA387789873 | BRCA2 | c.6566A>T (p.Asn2189Ile) c.6197A>T (p.Asn2066Ile) n.6566A>T | dbSNP COSMIC COSMIC |
| 13 | g.32340922C>A | CA024175 | BRCA2 | c.6567C>A (p.Asn2189Lys) c.6198C>A (p.Asn2066Lys) n.6567C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340922C= | CA2082815897 | BRCA2 | c.6567C= (p.Asn2189=) c.6198C= (p.Asn2066=) n.6567C= | |
| 13 | g.32340922C>G | CA024178 | BRCA2 | c.6567C>G (p.Asn2189Lys) c.6198C>G (p.Asn2066Lys) n.6567C>G | ClinVar dbSNP |
| 13 | g.32340922C>T | CA024181 | BRCA2 | c.6567C>T (p.Asn2189=) c.6198C>T (p.Asn2066=) n.6567C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340923G>A | CA024184 | BRCA2 | c.6568G>A (p.Val2190Ile) c.6199G>A (p.Val2067Ile) n.6568G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340923G>C | CA387789884 | BRCA2 | c.6568G>C (p.Val2190Leu) c.6199G>C (p.Val2067Leu) n.6568G>C | ClinVar dbSNP |
| 13 | g.32340923G= | CA2082815912 | BRCA2 | c.6568G= (p.Val2190=) c.6199G= (p.Val2067=) n.6568G= | |
| 13 | g.32340923G>T | CA6940968 | BRCA2 | c.6568G>T (p.Val2190Leu) c.6199G>T (p.Val2067Leu) n.6568G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340924T>A | CA387789888 | BRCA2 | c.6569T>A (p.Val2190Glu) c.6200T>A (p.Val2067Glu) n.6569T>A | |
| 13 | g.32340924T>C | CA024186 | BRCA2 | c.6569T>C (p.Val2190Ala) c.6200T>C (p.Val2067Ala) n.6569T>C | ClinVar dbSNP |
| 13 | g.32340924T>G | CA387789891 | BRCA2 | c.6569T>G (p.Val2190Gly) c.6200T>G (p.Val2067Gly) n.6569T>G | |
| 13 | g.32340924T= | CA2082815929 | BRCA2 | c.6569T= (p.Val2190=) c.6200T= (p.Val2067=) n.6569T= | |
| 13 | g.32340924_32340925delinsTA | CA2082815936 | BRCA2 | c.6569_6570delinsTA (p.Val2190=) c.6200_6201delinsTA (p.Val2067=) n.6569_6570delinsTA | |
| 13 | g.32340925A= | CA2082815953 | BRCA2 | c.6570A= (p.Val2190=) c.6201A= (p.Val2067=) n.6570A= | |
| 13 | g.32340925A>C | CA483439121 | BRCA2 | c.6570A>C (p.Val2190=) c.6201A>C (p.Val2067=) n.6570A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340925A>G | CA483439123 | BRCA2 | c.6570A>G (p.Val2190=) c.6201A>G (p.Val2067=) n.6570A>G | |
| 13 | g.32340925A>T | CA483439122 | BRCA2 | c.6570A>T (p.Val2190=) c.6201A>T (p.Val2067=) n.6570A>T | |
| 13 | g.32340929dup | CA2825002114 | BRCA2 | c.6574dup (p.Met2192AsnfsTer5) c.6205dup (p.Met2069AsnfsTer5) n.6574dup | ClinVar |
| 13 | g.32340929del | CA16614340 | BRCA2 | c.6574del (p.Met2192TrpfsTer14) c.6205del (p.Met2069TrpfsTer14) n.6574del | ClinVar dbSNP |
| 13 | g.32340926A>C | CA387789894 | BRCA2 | c.6571A>C (p.Lys2191Gln) c.6202A>C (p.Lys2068Gln) n.6571A>C | |
| 13 | g.32340926A>G | CA387789897 | BRCA2 | c.6571A>G (p.Lys2191Glu) c.6202A>G (p.Lys2068Glu) n.6571A>G | dbSNP |
| 13 | g.32340926A>T | CA387789899 | BRCA2 | c.6571A>T (p.Lys2191Ter) c.6202A>T (p.Lys2068Ter) n.6571A>T | dbSNP |
| 13 | g.32340926_32340940delinsAAAATGGAAATTGGT | CA2082815958 | BRCA2 | c.6571_6585delinsAAAATGGAAATTGGT (p.Lys2191=) c.6202_6216delinsAAAATGGAAATTGGT (p.Lys2068=) n.6571_6585delinsAAAATGGAAATTGGT | |
| 13 | g.32340927A>C | CA387789904 | BRCA2 | c.6572A>C (p.Lys2191Thr) c.6203A>C (p.Lys2068Thr) n.6572A>C | |
| 13 | g.32340927A>G | CA387789910 | BRCA2 | c.6572A>G (p.Lys2191Arg) c.6203A>G (p.Lys2068Arg) n.6572A>G | |
| 13 | g.32340927A>T | CA387789908 | BRCA2 | c.6572A>T (p.Lys2191Ile) c.6203A>T (p.Lys2068Ile) n.6572A>T | dbSNP |
| 13 | g.32340930_32340943del | CA10589393 | BRCA2 | c.6575_6588del (p.Met2192AsnfsTer2) c.6206_6219del (p.Met2069AsnfsTer2) n.6575_6588del | ClinVar dbSNP |
| 13 | g.32340928A>C | CA387789913 | BRCA2 | c.6573A>C (p.Lys2191Asn) c.6204A>C (p.Lys2068Asn) n.6573A>C | COSMIC |
| 13 | g.32340928A>G | CA483439124 | BRCA2 | c.6573A>G (p.Lys2191=) c.6204A>G (p.Lys2068=) n.6573A>G | ClinVar |
| 13 | g.32340928A>T | CA387789916 | BRCA2 | c.6573A>T (p.Lys2191Asn) c.6204A>T (p.Lys2068Asn) n.6573A>T | |
| 13 | g.32340929A= | CA2082815968 | BRCA2 | c.6574A= (p.Met2192=) c.6205A= (p.Met2069=) n.6574A= | |
| 13 | g.32340929A>C | CA387789917 | BRCA2 | c.6574A>C (p.Met2192Leu) c.6205A>C (p.Met2069Leu) n.6574A>C | |
| 13 | g.32340929A>G | CA247514103 | BRCA2 | c.6574A>G (p.Met2192Val) c.6205A>G (p.Met2069Val) n.6574A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340929A>T | CA387789921 | BRCA2 | c.6574A>T (p.Met2192Leu) c.6205A>T (p.Met2069Leu) n.6574A>T | ClinVar dbSNP |
| 13 | g.32340929_32340936delinsATGGAAAT | CA2082815967 | BRCA2 | c.6574_6581delinsATGGAAAT (p.Met2192=) c.6205_6212delinsATGGAAAT (p.Met2069=) n.6574_6581delinsATGGAAAT | |
| 13 | g.32340930T>A | CA387789925 | BRCA2 | c.6575T>A (p.Met2192Lys) c.6206T>A (p.Met2069Lys) n.6575T>A | |
| 13 | g.32340930T>C | CA387789926 | BRCA2 | c.6575T>C (p.Met2192Thr) c.6206T>C (p.Met2069Thr) n.6575T>C | ClinVar dbSNP |
| 13 | g.32340930T>G | CA387789928 | BRCA2 | c.6575T>G (p.Met2192Arg) c.6206T>G (p.Met2069Arg) n.6575T>G | dbSNP |
| 13 | g.32340930T= | CA2082815983 | BRCA2 | c.6575T= (p.Met2192=) c.6206T= (p.Met2069=) n.6575T= | |
| 13 | g.32340933_32340939del | CA10586559 | BRCA2 | c.6578_6584del (p.Glu2193ValfsTer11) c.6209_6215del (p.Glu2070ValfsTer11) n.6578_6584del | ClinVar dbSNP |
| 13 | g.32340931G>A | CA387789936 | BRCA2 | c.6576G>A (p.Met2192Ile) c.6207G>A (p.Met2069Ile) n.6576G>A | dbSNP |
| 13 | g.32340931G>C | CA387789932 | BRCA2 | c.6576G>C (p.Met2192Ile) c.6207G>C (p.Met2069Ile) n.6576G>C | |
| 13 | g.32340931G>T | CA387789933 | BRCA2 | c.6576G>T (p.Met2192Ile) c.6207G>T (p.Met2069Ile) n.6576G>T | gnomAD v4 |
| 13 | g.32340932G>A | CA387789940 | BRCA2 | c.6577G>A (p.Glu2193Lys) c.6208G>A (p.Glu2070Lys) n.6577G>A | ClinVar dbSNP |
| 13 | g.32340932G>C | CA387789952 | BRCA2 | c.6577G>C (p.Glu2193Gln) c.6208G>C (p.Glu2070Gln) n.6577G>C | dbSNP |
| 13 | g.32340932G>T | CA387789949 | BRCA2 | c.6577G>T (p.Glu2193Ter) c.6208G>T (p.Glu2070Ter) n.6577G>T | dbSNP gnomAD v4 |
| 13 | g.32340932_32340933delinsGA | CA2082815990 | BRCA2 | c.6577_6578delinsGA (p.Glu2193=) c.6208_6209delinsGA (p.Glu2070=) n.6577_6578delinsGA | |
| 13 | g.32340933A>C | CA387789954 | BRCA2 | c.6578A>C (p.Glu2193Ala) c.6209A>C (p.Glu2070Ala) n.6578A>C | |
| 13 | g.32340933A>G | CA387789956 | BRCA2 | c.6578A>G (p.Glu2193Gly) c.6209A>G (p.Glu2070Gly) n.6578A>G | |
| 13 | g.32340933A>T | CA387789958 | BRCA2 | c.6578A>T (p.Glu2193Val) c.6209A>T (p.Glu2070Val) n.6578A>T | |
| 13 | g.32340935dup | CA10589394 | BRCA2 | c.6580dup (p.Ile2194AsnfsTer3) c.6211dup (p.Ile2071AsnfsTer3) n.6580dup | ClinVar dbSNP |
| 13 | g.32340935del | CA2082816020 | BRCA2 | c.6580del (p.Ile2194LeufsTer12) c.6211del (p.Ile2071LeufsTer12) n.6580del | ClinVar dbSNP |
| 13 | g.32340934A= | CA2082816031 | BRCA2 | c.6579A= (p.Glu2193=) c.6210A= (p.Glu2070=) n.6579A= | |
| 13 | g.32340934A>C | CA387789959 | BRCA2 | c.6579A>C (p.Glu2193Asp) c.6210A>C (p.Glu2070Asp) n.6579A>C | |
| 13 | g.32340934A>G | CA483439228 | BRCA2 | c.6579A>G (p.Glu2193=) c.6210A>G (p.Glu2070=) n.6579A>G | ClinVar dbSNP |
| 13 | g.32340934A>T | CA387789960 | BRCA2 | c.6579A>T (p.Glu2193Asp) c.6210A>T (p.Glu2070Asp) n.6579A>T | dbSNP |
| 13 | g.32340935A= | CA2082816060 | BRCA2 | c.6580A= (p.Ile2194=) c.6211A= (p.Ile2071=) n.6580A= | |
| 13 | g.32340935A>C | CA387789962 | BRCA2 | c.6580A>C (p.Ile2194Leu) c.6211A>C (p.Ile2071Leu) n.6580A>C | dbSNP |
| 13 | g.32340935A>G | CA387789964 | BRCA2 | c.6580A>G (p.Ile2194Val) c.6211A>G (p.Ile2071Val) n.6580A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340935A>T | CA387789966 | BRCA2 | c.6580A>T (p.Ile2194Phe) c.6211A>T (p.Ile2071Phe) n.6580A>T | ClinVar dbSNP |
| 13 | g.32340935_32340936delinsAT | CA2082816064 | BRCA2 | c.6580_6581delinsAT (p.Ile2194=) c.6211_6212delinsAT (p.Ile2071=) n.6580_6581delinsAT | |
| 13 | g.32340936T>A | CA387789969 | BRCA2 | c.6581T>A (p.Ile2194Asn) c.6212T>A (p.Ile2071Asn) n.6581T>A | dbSNP |
| 13 | g.32340936T>C | CA10579703 | BRCA2 | c.6581T>C (p.Ile2194Thr) c.6212T>C (p.Ile2071Thr) n.6581T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340936T>G | CA387789972 | BRCA2 | c.6581T>G (p.Ile2194Ser) c.6212T>G (p.Ile2071Ser) n.6581T>G | dbSNP |
| 13 | g.32340936T= | CA2082816077 | BRCA2 | c.6581T= (p.Ile2194=) c.6212T= (p.Ile2071=) n.6581T= | |
| 13 | g.32340937del | CA919242736 | BRCA2 | c.6582del (p.Ile2194MetfsTer12) c.6213del (p.Ile2071MetfsTer12) n.6582del | ClinVar dbSNP |
| 13 | g.32340937T>A | CA483439231 | BRCA2 | c.6582T>A (p.Ile2194=) c.6213T>A (p.Ile2071=) n.6582T>A | ClinVar dbSNP |
| 13 | g.32340937T>C | CA483439232 | BRCA2 | c.6582T>C (p.Ile2194=) c.6213T>C (p.Ile2071=) n.6582T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340937T>G | CA387789973 | BRCA2 | c.6582T>G (p.Ile2194Met) c.6213T>G (p.Ile2071Met) n.6582T>G | |
| 13 | g.32340937T= | CA2082816090 | BRCA2 | c.6582T= (p.Ile2194=) c.6213T= (p.Ile2071=) n.6582T= | |
| 13 | g.32340938G>A | CA387789974 | BRCA2 | c.6583G>A (p.Gly2195Ser) c.6214G>A (p.Gly2072Ser) n.6583G>A | ClinVar dbSNP |
| 13 | g.32340938G>C | CA387789975 | BRCA2 | c.6583G>C (p.Gly2195Arg) c.6214G>C (p.Gly2072Arg) n.6583G>C | dbSNP |
| 13 | g.32340938G= | CA2082816099 | BRCA2 | c.6583G= (p.Gly2195=) c.6214G= (p.Gly2072=) n.6583G= | |
| 13 | g.32340938G>T | CA387789977 | BRCA2 | c.6583G>T (p.Gly2195Cys) c.6214G>T (p.Gly2072Cys) n.6583G>T | dbSNP |
| 13 | g.32340938_32340939insAGAGAGATATGGA | CA2508854091 | BRCA2 | c.6583_6584insAGAGAGATATGGA (p.Gly2195GlufsTer6) c.6214_6215insAGAGAGATATGGA (p.Gly2072GlufsTer6) n.6583_6584insAGAGAGATATGGA | |
| 13 | g.32340939G>A | CA247514117 | BRCA2 | c.6584G>A (p.Gly2195Asp) c.6215G>A (p.Gly2072Asp) n.6584G>A | ClinVar dbSNP |
| 13 | g.32340939G>C | CA387789980 | BRCA2 | c.6584G>C (p.Gly2195Ala) c.6215G>C (p.Gly2072Ala) n.6584G>C | dbSNP |
| 13 | g.32340939G= | CA2082816113 | BRCA2 | c.6584G= (p.Gly2195=) c.6215G= (p.Gly2072=) n.6584G= | |
| 13 | g.32340939G>T | CA387789983 | BRCA2 | c.6584G>T (p.Gly2195Val) c.6215G>T (p.Gly2072Val) n.6584G>T | dbSNP |
| 13 | g.32340940T>A | CA483439237 | BRCA2 | c.6585T>A (p.Gly2195=) c.6216T>A (p.Gly2072=) n.6585T>A | |
| 13 | g.32340940T>C | CA483439239 | BRCA2 | c.6585T>C (p.Gly2195=) c.6216T>C (p.Gly2072=) n.6585T>C | ClinVar dbSNP |
| 13 | g.32340940T>G | CA483439238 | BRCA2 | c.6585T>G (p.Gly2195=) c.6216T>G (p.Gly2072=) n.6585T>G | |
| 13 | g.32340940dup | CA10589395 | BRCA2 | c.6585dup (p.Lys2196Ter) c.6216dup (p.Lys2073Ter) n.6585dup | ClinVar dbSNP |
| 13 | g.32340940_32340942delinsTAA | CA2082816123 | BRCA2 | c.6585_6587delinsTAA (p.Gly2195=) c.6216_6218delinsTAA (p.Gly2072=) n.6585_6587delinsTAA | |
| 13 | g.32340941A= | CA2082816149 | BRCA2 | c.6586A= (p.Lys2196=) c.6217A= (p.Lys2073=) n.6586A= | |
| 13 | g.32340941A>C | CA387789986 | BRCA2 | c.6586A>C (p.Lys2196Gln) c.6217A>C (p.Lys2073Gln) n.6586A>C | |
| 13 | g.32340941A>G | CA387789988 | BRCA2 | c.6586A>G (p.Lys2196Glu) c.6217A>G (p.Lys2073Glu) n.6586A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340941A>T | CA024190 | BRCA2 | c.6586A>T (p.Lys2196Ter) c.6217A>T (p.Lys2073Ter) n.6586A>T | ClinVar dbSNP |
| 13 | g.32340944dup | CA915948509 | BRCA2 | c.6589dup (p.Thr2197AsnfsTer2) c.6220dup (p.Thr2074AsnfsTer2) n.6589dup | ClinVar dbSNP |
| 13 | g.32340944del | CA024192 | BRCA2 | c.6589del (p.Thr2197LeufsTer9) c.6220del (p.Thr2074LeufsTer9) n.6589del | ClinVar dbSNP |
| 13 | g.32340943_32340944del | CA10581589 | BRCA2 | c.6588_6589del (p.Lys2196AsnfsTer2) c.6219_6220del (p.Lys2073AsnfsTer2) n.6588_6589del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340942A= | CA2082816163 | BRCA2 | c.6587A= (p.Lys2196=) c.6218A= (p.Lys2073=) n.6587A= | |
| 13 | g.32340942A>C | CA387789996 | BRCA2 | c.6587A>C (p.Lys2196Thr) c.6218A>C (p.Lys2073Thr) n.6587A>C | |
| 13 | g.32340942A>G | CA387790000 | BRCA2 | c.6587A>G (p.Lys2196Arg) c.6218A>G (p.Lys2073Arg) n.6587A>G | ClinVar dbSNP |
| 13 | g.32340942A>T | CA387790001 | BRCA2 | c.6587A>T (p.Lys2196Ile) c.6218A>T (p.Lys2073Ile) n.6587A>T | dbSNP |
| 13 | g.32340947_32340952del | CA2727928710 | BRCA2 | c.6592_6597del (p.Glu2198_Thr2199del) c.6223_6228del (p.Glu2075_Thr2076del) n.6592_6597del | dbSNP |
| 13 | g.32340943A>C | CA387790003 | BRCA2 | c.6588A>C (p.Lys2196Asn) c.6219A>C (p.Lys2073Asn) n.6588A>C | |
| 13 | g.32340943A>G | CA483439246 | BRCA2 | c.6588A>G (p.Lys2196=) c.6219A>G (p.Lys2073=) n.6588A>G | |
| 13 | g.32340943A>T | CA387790004 | BRCA2 | c.6588A>T (p.Lys2196Asn) c.6219A>T (p.Lys2073Asn) n.6588A>T | dbSNP |
| 13 | g.32340944A>C | CA387790014 | BRCA2 | c.6589A>C (p.Thr2197Pro) c.6220A>C (p.Thr2074Pro) n.6589A>C | dbSNP |
| 13 | g.32340944A>G | CA387790009 | BRCA2 | c.6589A>G (p.Thr2197Ala) c.6220A>G (p.Thr2074Ala) n.6589A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340944A>T | CA387790012 | BRCA2 | c.6589A>T (p.Thr2197Ser) c.6220A>T (p.Thr2074Ser) n.6589A>T | dbSNP |
| 13 | g.32340945_32340948del | CA2499222243 | BRCA2 | c.6590_6593del (p.Thr2197LysfsTer8) c.6221_6224del (p.Thr2074LysfsTer8) n.6590_6593del | |
| 13 | g.32340945C>A | CA387790017 | BRCA2 | c.6590C>A (p.Thr2197Asn) c.6221C>A (p.Thr2074Asn) n.6590C>A | dbSNP |
| 13 | g.32340945C= | CA2082816176 | BRCA2 | c.6590C= (p.Thr2197=) c.6221C= (p.Thr2074=) n.6590C= | |
| 13 | g.32340945C>G | CA387790020 | BRCA2 | c.6590C>G (p.Thr2197Ser) c.6221C>G (p.Thr2074Ser) n.6590C>G | dbSNP |
| 13 | g.32340945C>T | CA387790023 | BRCA2 | c.6590C>T (p.Thr2197Ile) c.6221C>T (p.Thr2074Ile) n.6590C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340945_32340946delinsCT | CA2082816180 | BRCA2 | c.6590_6591delinsCT (p.Thr2197=) c.6221_6222delinsCT (p.Thr2074=) n.6590_6591delinsCT | |
| 13 | g.32340945_32340947del | CA2695217841 | BRCA2 | c.6590_6592del (p.Thr2197_Glu2198delinsLys) c.6221_6223del (p.Thr2074_Glu2075delinsLys) n.6590_6592del | |
| 13 | g.32340945_32340947delinsCTG | CA2082816173 | BRCA2 | c.6590_6592delinsCTG (p.Thr2197=) c.6221_6223delinsCTG (p.Thr2074=) n.6590_6592delinsCTG | |
| 13 | g.32340945_32340946insA | CA2695217842 | BRCA2 | c.6590_6591insA (p.Glu2198Ter) c.6221_6222insA (p.Glu2075Ter) n.6590_6591insA | |
| 13 | g.32340946del | CA024195 | BRCA2 | c.6591del (p.Glu2198LysfsTer8) c.6222del (p.Glu2075LysfsTer8) n.6591del | ClinVar dbSNP |
| 13 | g.32340946T>A | CA483439252 | BRCA2 | c.6591T>A (p.Thr2197=) c.6222T>A (p.Thr2074=) n.6591T>A | |
| 13 | g.32340946T>C | CA483439253 | BRCA2 | c.6591T>C (p.Thr2197=) c.6222T>C (p.Thr2074=) n.6591T>C | |
| 13 | g.32340946T>G | CA483439254 | BRCA2 | c.6591T>G (p.Thr2197=) c.6222T>G (p.Thr2074=) n.6591T>G | ClinVar |
| 13 | g.32340946_32340947del | CA024193 | BRCA2 | c.6591_6592del (p.Glu2198AsnfsTer4) c.6222_6223del (p.Glu2075AsnfsTer4) n.6591_6592del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340947G>A | CA387790030 | BRCA2 | c.6592G>A (p.Glu2198Lys) c.6223G>A (p.Glu2075Lys) n.6592G>A | ClinVar dbSNP |
| 13 | g.32340947G>C | CA387790032 | BRCA2 | c.6592G>C (p.Glu2198Gln) c.6223G>C (p.Glu2075Gln) n.6592G>C | ClinVar dbSNP |
| 13 | g.32340947G= | CA2082816195 | BRCA2 | c.6592G= (p.Glu2198=) c.6223G= (p.Glu2075=) n.6592G= | |
| 13 | g.32340947G>T | CA387790035 | BRCA2 | c.6592G>T (p.Glu2198Ter) c.6223G>T (p.Glu2075Ter) n.6592G>T | ClinVar dbSNP |
| 13 | g.32340948A= | CA2082816199 | BRCA2 | c.6593A= (p.Glu2198=) c.6224A= (p.Glu2075=) n.6593A= | |
| 13 | g.32340948A>C | CA387790042 | BRCA2 | c.6593A>C (p.Glu2198Ala) c.6224A>C (p.Glu2075Ala) n.6593A>C | |
| 13 | g.32340948A>G | CA6940969 | BRCA2 | c.6593A>G (p.Glu2198Gly) c.6224A>G (p.Glu2075Gly) n.6593A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340948A>T | CA387790040 | BRCA2 | c.6593A>T (p.Glu2198Val) c.6224A>T (p.Glu2075Val) n.6593A>T | dbSNP |
| 13 | g.32340949A>C | CA387790045 | BRCA2 | c.6594A>C (p.Glu2198Asp) c.6225A>C (p.Glu2075Asp) n.6594A>C | ClinVar dbSNP |
| 13 | g.32340949A>G | CA483439258 | BRCA2 | c.6594A>G (p.Glu2198=) c.6225A>G (p.Glu2075=) n.6594A>G | |
| 13 | g.32340949A>T | CA387790047 | BRCA2 | c.6594A>T (p.Glu2198Asp) c.6225A>T (p.Glu2075Asp) n.6594A>T | dbSNP |
| 13 | g.32340950A>C | CA387790050 | BRCA2 | c.6595A>C (p.Thr2199Pro) c.6226A>C (p.Thr2076Pro) n.6595A>C | dbSNP |
| 13 | g.32340950A>G | CA387790052 | BRCA2 | c.6595A>G (p.Thr2199Ala) c.6226A>G (p.Thr2076Ala) n.6595A>G | |
| 13 | g.32340950A>T | CA387790055 | BRCA2 | c.6595A>T (p.Thr2199Ser) c.6226A>T (p.Thr2076Ser) n.6595A>T | dbSNP |
| 13 | g.32340950_32340951delinsAC | CA2082816208 | BRCA2 | c.6595_6596delinsAC (p.Thr2199=) c.6226_6227delinsAC (p.Thr2076=) n.6595_6596delinsAC | |
| 13 | g.32340950_32340952delinsACT | CA2082816210 | BRCA2 | c.6595_6597delinsACT (p.Thr2199=) c.6226_6228delinsACT (p.Thr2076=) n.6595_6597delinsACT | |
| 13 | g.32340951del | CA10579704 | BRCA2 | c.6596del (p.Thr2199IlefsTer7) c.6227del (p.Thr2076IlefsTer7) n.6596del | ClinVar dbSNP |
| 13 | g.32340951C>A | CA387790058 | BRCA2 | c.6596C>A (p.Thr2199Asn) c.6227C>A (p.Thr2076Asn) n.6596C>A | dbSNP COSMIC |
| 13 | g.32340951C>G | CA387790059 | BRCA2 | c.6596C>G (p.Thr2199Ser) c.6227C>G (p.Thr2076Ser) n.6596C>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340951C>T | CA387790061 | BRCA2 | c.6596C>T (p.Thr2199Ile) c.6227C>T (p.Thr2076Ile) n.6596C>T | dbSNP |
| 13 | g.32340951_32340952delinsA | CA915948510 | BRCA2 | c.6596_6597delinsA (p.Thr2199AsnfsTer7) c.6227_6228delinsA (p.Thr2076AsnfsTer7) n.6596_6597delinsA | ClinVar dbSNP |
| 13 | g.32340951_32340953delinsCTT | CA2082816215 | BRCA2 | c.6596_6598delinsCTT (p.Thr2199=) c.6227_6229delinsCTT (p.Thr2076=) n.6596_6598delinsCTT | |
| 13 | g.32340952T>A | CA483439264 | BRCA2 | c.6597T>A (p.Thr2199=) c.6228T>A (p.Thr2076=) n.6597T>A | dbSNP |
| 13 | g.32340952T>C | CA483439263 | BRCA2 | c.6597T>C (p.Thr2199=) c.6228T>C (p.Thr2076=) n.6597T>C | ClinVar |
| 13 | g.32340952T>G | CA483439262 | BRCA2 | c.6597T>G (p.Thr2199=) c.6228T>G (p.Thr2076=) n.6597T>G | |
| 13 | g.32340956del | CA024201 | BRCA2 | c.6601del (p.Ser2201LeufsTer5) c.6232del (p.Ser2078LeufsTer5) n.6601del | ClinVar dbSNP |
| 13 | g.32340955_32340956del | CA024197 | BRCA2 | c.6600_6601del (p.Ser2201Ter) c.6231_6232del (p.Ser2078Ter) n.6600_6601del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340954_32340956del | CA2622600311 | BRCA2 | c.6599_6601del (p.Phe2200del) c.6230_6232del (p.Phe2077del) n.6599_6601del | ClinVar gnomAD v4 |
| 13 | g.32340953T>A | CA387790072 | BRCA2 | c.6598T>A (p.Phe2200Ile) c.6229T>A (p.Phe2077Ile) n.6598T>A | |
| 13 | g.32340953T>C | CA10575926 | BRCA2 | c.6598T>C (p.Phe2200Leu) c.6229T>C (p.Phe2077Leu) n.6598T>C | ClinVar dbSNP |
| 13 | g.32340953T>G | CA387790067 | BRCA2 | c.6598T>G (p.Phe2200Val) c.6229T>G (p.Phe2077Val) n.6598T>G | |
| 13 | g.32340953T= | CA2082816226 | BRCA2 | c.6598T= (p.Phe2200=) c.6229T= (p.Phe2077=) n.6598T= | |
| 13 | g.32340954T>A | CA387790074 | BRCA2 | c.6599T>A (p.Phe2200Tyr) c.6230T>A (p.Phe2077Tyr) n.6599T>A | dbSNP |
| 13 | g.32340954T>C | CA387790079 | BRCA2 | c.6599T>C (p.Phe2200Ser) c.6230T>C (p.Phe2077Ser) n.6599T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340954T>G | CA387790075 | BRCA2 | c.6599T>G (p.Phe2200Cys) c.6230T>G (p.Phe2077Cys) n.6599T>G | |
| 13 | g.32340954T= | CA2082816233 | BRCA2 | c.6599T= (p.Phe2200=) c.6230T= (p.Phe2077=) n.6599T= | |
| 13 | g.32340955T>A | CA387790084 | BRCA2 | c.6600T>A (p.Phe2200Leu) c.6231T>A (p.Phe2077Leu) n.6600T>A | dbSNP |
| 13 | g.32340955T>C | CA483439269 | BRCA2 | c.6600T>C (p.Phe2200=) c.6231T>C (p.Phe2077=) n.6600T>C | |
| 13 | g.32340955T>G | CA024199 | BRCA2 | c.6600T>G (p.Phe2200Leu) c.6231T>G (p.Phe2077Leu) n.6600T>G | ClinVar dbSNP |
| 13 | g.32340955T= | CA2082816243 | BRCA2 | c.6600T= (p.Phe2200=) c.6231T= (p.Phe2077=) n.6600T= | |
| 13 | g.32340956T>A | CA387790088 | BRCA2 | c.6601T>A (p.Ser2201Thr) c.6232T>A (p.Ser2078Thr) n.6601T>A | dbSNP |
| 13 | g.32340956T>C | CA10576070 | BRCA2 | c.6601T>C (p.Ser2201Pro) c.6232T>C (p.Ser2078Pro) n.6601T>C | ClinVar dbSNP |
| 13 | g.32340956T>G | CA387790091 | BRCA2 | c.6601T>G (p.Ser2201Ala) c.6232T>G (p.Ser2078Ala) n.6601T>G | |
| 13 | g.32340956T= | CA2082816254 | BRCA2 | c.6601T= (p.Ser2201=) c.6232T= (p.Ser2078=) n.6601T= | |
| 13 | g.32340956_32340957delinsTC | CA2082816257 | BRCA2 | c.6601_6602delinsTC (p.Ser2201=) c.6232_6233delinsTC (p.Ser2078=) n.6601_6602delinsTC | |
| 13 | g.32340957_32340958dup | CA2695217843 | BRCA2 | c.6602_6603dup (p.Asp2202LeufsTer5) c.6233_6234dup (p.Asp2079LeufsTer5) n.6602_6603dup | |
| 13 | g.32340957del | CA024203 | BRCA2 | c.6602del (p.Ser2201LeufsTer5) c.6233del (p.Ser2078LeufsTer5) n.6602del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340957C>A | CA387790102 | BRCA2 | c.6602C>A (p.Ser2201Tyr) c.6233C>A (p.Ser2078Tyr) n.6602C>A | dbSNP |
| 13 | g.32340957C>G | CA387790099 | BRCA2 | c.6602C>G (p.Ser2201Cys) c.6233C>G (p.Ser2078Cys) n.6602C>G | dbSNP |
| 13 | g.32340957C>T | CA387790095 | BRCA2 | c.6602C>T (p.Ser2201Phe) c.6233C>T (p.Ser2078Phe) n.6602C>T | dbSNP COSMIC COSMIC |
| 13 | g.32340957_32340959delinsCTG | CA2082816264 | BRCA2 | c.6602_6604delinsCTG (p.Ser2201=) c.6233_6235delinsCTG (p.Ser2078=) n.6602_6604delinsCTG | |
| 13 | g.32340958T>A | CA483439278 | BRCA2 | c.6603T>A (p.Ser2201=) c.6234T>A (p.Ser2078=) n.6603T>A | dbSNP |
| 13 | g.32340958T>C | CA024207 | BRCA2 | c.6603T>C (p.Ser2201=) c.6234T>C (p.Ser2078=) n.6603T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340958T>G | CA483439277 | BRCA2 | c.6603T>G (p.Ser2201=) c.6234T>G (p.Ser2078=) n.6603T>G | |
| 13 | g.32340958T= | CA2082816276 | BRCA2 | c.6603T= (p.Ser2201=) c.6234T= (p.Ser2078=) n.6603T= | |
| 13 | g.32340958_32340959del | CA024205 | BRCA2 | c.6603_6604del (p.Asp2202CysfsTer22) c.6234_6235del (p.Asp2079CysfsTer22) n.6603_6604del | ClinVar dbSNP |
| 13 | g.32340959G>A | CA387790108 | BRCA2 | c.6604G>A (p.Asp2202Asn) c.6235G>A (p.Asp2079Asn) n.6604G>A | dbSNP |
| 13 | g.32340959G>C | CA387790111 | BRCA2 | c.6604G>C (p.Asp2202His) c.6235G>C (p.Asp2079His) n.6604G>C | ClinVar dbSNP |
| 13 | g.32340959G= | CA2082816286 | BRCA2 | c.6604G= (p.Asp2202=) c.6235G= (p.Asp2079=) n.6604G= | |
| 13 | g.32340959G>T | CA387790114 | BRCA2 | c.6604G>T (p.Asp2202Tyr) c.6235G>T (p.Asp2079Tyr) n.6604G>T | dbSNP gnomAD v4 |
| 13 | g.32340960A>C | CA387790118 | BRCA2 | c.6605A>C (p.Asp2202Ala) c.6236A>C (p.Asp2079Ala) n.6605A>C | dbSNP |
| 13 | g.32340960A>G | CA387790123 | BRCA2 | c.6605A>G (p.Asp2202Gly) c.6236A>G (p.Asp2079Gly) n.6605A>G | dbSNP |
| 13 | g.32340960A>T | CA387790120 | BRCA2 | c.6605A>T (p.Asp2202Val) c.6236A>T (p.Asp2079Val) n.6605A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340961T>A | CA387790126 | BRCA2 | c.6606T>A (p.Asp2202Glu) c.6237T>A (p.Asp2079Glu) n.6606T>A | ClinVar dbSNP |
| 13 | g.32340961T>C | CA247514160 | BRCA2 | c.6606T>C (p.Asp2202=) c.6237T>C (p.Asp2079=) n.6606T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340961T>G | CA387790129 | BRCA2 | c.6606T>G (p.Asp2202Glu) c.6237T>G (p.Asp2079Glu) n.6606T>G | dbSNP |
| 13 | g.32340961T= | CA2082816291 | BRCA2 | c.6606T= (p.Asp2202=) c.6237T= (p.Asp2079=) n.6606T= | |
| 13 | g.32340962G>A | CA387790133 | BRCA2 | c.6607G>A (p.Val2203Ile) c.6238G>A (p.Val2080Ile) n.6607G>A | dbSNP |
| 13 | g.32340962G>C | CA387790135 | BRCA2 | c.6607G>C (p.Val2203Leu) c.6238G>C (p.Val2080Leu) n.6607G>C | dbSNP |
| 13 | g.32340962G= | CA2082816304 | BRCA2 | c.6607G= (p.Val2203=) c.6238G= (p.Val2080=) n.6607G= | |
| 13 | g.32340962G>T | CA024209 | BRCA2 | c.6607G>T (p.Val2203Phe) c.6238G>T (p.Val2080Phe) n.6607G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340963T>A | CA387790139 | BRCA2 | c.6608T>A (p.Val2203Asp) c.6239T>A (p.Val2080Asp) n.6608T>A | ClinVar dbSNP |
| 13 | g.32340963T>C | CA387790142 | BRCA2 | c.6608T>C (p.Val2203Ala) c.6239T>C (p.Val2080Ala) n.6608T>C | |
| 13 | g.32340963T>G | CA387790144 | BRCA2 | c.6608T>G (p.Val2203Gly) c.6239T>G (p.Val2080Gly) n.6608T>G | |
| 13 | g.32340964T>A | CA483439290 | BRCA2 | c.6609T>A (p.Val2203=) c.6240T>A (p.Val2080=) n.6609T>A | dbSNP |
| 13 | g.32340964T>C | CA483439287 | BRCA2 | c.6609T>C (p.Val2203=) c.6240T>C (p.Val2080=) n.6609T>C | ClinVar dbSNP |
| 13 | g.32340964T>G | CA483439289 | BRCA2 | c.6609T>G (p.Val2203=) c.6240T>G (p.Val2080=) n.6609T>G | ClinVar |
| 13 | g.32340964T= | CA2082816311 | BRCA2 | c.6609T= (p.Val2203=) c.6240T= (p.Val2080=) n.6609T= | |
| 13 | g.32340965C>A | CA387790146 | BRCA2 | c.6610C>A (p.Pro2204Thr) c.6241C>A (p.Pro2081Thr) n.6610C>A | ClinVar dbSNP |
| 13 | g.32340965C= | CA2082816325 | BRCA2 | c.6610C= (p.Pro2204=) c.6241C= (p.Pro2081=) n.6610C= | |
| 13 | g.32340965C>G | CA387790147 | BRCA2 | c.6610C>G (p.Pro2204Ala) c.6241C>G (p.Pro2081Ala) n.6610C>G | ClinVar dbSNP |
| 13 | g.32340965C>T | CA387790149 | BRCA2 | c.6610C>T (p.Pro2204Ser) c.6241C>T (p.Pro2081Ser) n.6610C>T | dbSNP gnomAD v4 |
| 13 | g.32340966dup | CA645372980 | BRCA2 | c.6611dup (p.Val2205CysfsTer20) c.6242dup (p.Val2082CysfsTer20) n.6611dup | ClinVar dbSNP |
| 13 | g.32340966del | CA658761140 | BRCA2 | c.6611del (p.Pro2204LeufsTer2) c.6242del (p.Pro2081LeufsTer2) n.6611del | ClinVar dbSNP |
| 13 | g.32340966C>A | CA387790156 | BRCA2 | c.6611C>A (p.Pro2204His) c.6242C>A (p.Pro2081His) n.6611C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340966C= | CA2082816336 | BRCA2 | c.6611C= (p.Pro2204=) c.6242C= (p.Pro2081=) n.6611C= | |
| 13 | g.32340966C>G | CA387790155 | BRCA2 | c.6611C>G (p.Pro2204Arg) c.6242C>G (p.Pro2081Arg) n.6611C>G | ClinVar dbSNP |
| 13 | g.32340966C>T | CA387790152 | BRCA2 | c.6611C>T (p.Pro2204Leu) c.6242C>T (p.Pro2081Leu) n.6611C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340967T>A | CA483439295 | BRCA2 | c.6612T>A (p.Pro2204=) c.6243T>A (p.Pro2081=) n.6612T>A | ClinVar dbSNP |
| 13 | g.32340967T>C | CA483439296 | BRCA2 | c.6612T>C (p.Pro2204=) c.6243T>C (p.Pro2081=) n.6612T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340967T>G | CA483439297 | BRCA2 | c.6612T>G (p.Pro2204=) c.6243T>G (p.Pro2081=) n.6612T>G | |
| 13 | g.32340967T= | CA2082816351 | BRCA2 | c.6612T= (p.Pro2204=) c.6243T= (p.Pro2081=) n.6612T= | |
| 13 | g.32340968G>A | CA024211 | BRCA2 | c.6613G>A (p.Val2205Met) c.6244G>A (p.Val2082Met) n.6613G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340968G>C | CA387790165 | BRCA2 | c.6613G>C (p.Val2205Leu) c.6244G>C (p.Val2082Leu) n.6613G>C | |
| 13 | g.32340968G= | CA2082816357 | BRCA2 | c.6613G= (p.Val2205=) c.6244G= (p.Val2082=) n.6613G= | |
| 13 | g.32340968G>T | CA387790163 | BRCA2 | c.6613G>T (p.Val2205Leu) c.6244G>T (p.Val2082Leu) n.6613G>T | |
| 13 | g.32340969T>A | CA387790167 | BRCA2 | c.6614T>A (p.Val2205Glu) c.6245T>A (p.Val2082Glu) n.6614T>A | dbSNP |
| 13 | g.32340969T>C | CA387790170 | BRCA2 | c.6614T>C (p.Val2205Ala) c.6245T>C (p.Val2082Ala) n.6614T>C | dbSNP |
| 13 | g.32340969T>G | CA024214 | BRCA2 | c.6614T>G (p.Val2205Gly) c.6245T>G (p.Val2082Gly) n.6614T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340969T= | CA2082816363 | BRCA2 | c.6614T= (p.Val2205=) c.6245T= (p.Val2082=) n.6614T= | |
| 13 | g.32340970G>A | CA483439304 | BRCA2 | c.6615G>A (p.Val2205=) c.6246G>A (p.Val2082=) n.6615G>A | dbSNP |
| 13 | g.32340970G>C | CA483439305 | BRCA2 | c.6615G>C (p.Val2205=) c.6246G>C (p.Val2082=) n.6615G>C | dbSNP |
| 13 | g.32340970G>T | CA483439306 | BRCA2 | c.6615G>T (p.Val2205=) c.6246G>T (p.Val2082=) n.6615G>T | |
| 13 | g.32340971A= | CA2082816371 | BRCA2 | c.6616A= (p.Lys2206=) c.6247A= (p.Lys2083=) n.6616A= | |
| 13 | g.32340971A>C | CA387790171 | BRCA2 | c.6616A>C (p.Lys2206Gln) c.6247A>C (p.Lys2083Gln) n.6616A>C | |
| 13 | g.32340971A>G | CA387790172 | BRCA2 | c.6616A>G (p.Lys2206Glu) c.6247A>G (p.Lys2083Glu) n.6616A>G | ClinVar dbSNP |
| 13 | g.32340971A>T | CA387790173 | BRCA2 | c.6616A>T (p.Lys2206Ter) c.6247A>T (p.Lys2083Ter) n.6616A>T | dbSNP |
| 13 | g.32340974dup | CA2499222244 | BRCA2 | c.6619dup (p.Thr2207AsnfsTer18) c.6250dup (p.Thr2084AsnfsTer18) n.6619dup | |
| 13 | g.32340972A>C | CA387790174 | BRCA2 | c.6617A>C (p.Lys2206Thr) c.6248A>C (p.Lys2083Thr) n.6617A>C | |
| 13 | g.32340972A>G | CA387790175 | BRCA2 | c.6617A>G (p.Lys2206Arg) c.6248A>G (p.Lys2083Arg) n.6617A>G | |
| 13 | g.32340972A>T | CA387790177 | BRCA2 | c.6617A>T (p.Lys2206Ile) c.6248A>T (p.Lys2083Ile) n.6617A>T | dbSNP |
| 13 | g.32340975_32340978del | CA2499222245 | BRCA2 | c.6620_6623del (p.Thr2207IlefsTer2) c.6251_6254del (p.Thr2084IlefsTer2) n.6620_6623del | ClinVar gnomAD v4 |
| 13 | g.32340973A= | CA2082816380 | BRCA2 | c.6618A= (p.Lys2206=) c.6249A= (p.Lys2083=) n.6618A= | |
| 13 | g.32340973A>C | CA387790183 | BRCA2 | c.6618A>C (p.Lys2206Asn) c.6249A>C (p.Lys2083Asn) n.6618A>C | COSMIC COSMIC |
| 13 | g.32340973A>G | CA6940970 | BRCA2 | c.6618A>G (p.Lys2206=) c.6249A>G (p.Lys2083=) n.6618A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340973A>T | CA387790188 | BRCA2 | c.6618A>T (p.Lys2206Asn) c.6249A>T (p.Lys2083Asn) n.6618A>T | dbSNP |
| 13 | g.32340975_32340977del | CA2695217844 | BRCA2 | c.6620_6622del (p.Thr2207del) c.6251_6253del (p.Thr2084del) n.6620_6622del | |
| 13 | g.32340974A= | CA2082816392 | BRCA2 | c.6619A= (p.Thr2207=) c.6250A= (p.Thr2084=) n.6619A= | |
| 13 | g.32340974A>C | CA387790200 | BRCA2 | c.6619A>C (p.Thr2207Pro) c.6250A>C (p.Thr2084Pro) n.6619A>C | dbSNP |
| 13 | g.32340974A>G | CA16622064 | BRCA2 | c.6619A>G (p.Thr2207Ala) c.6250A>G (p.Thr2084Ala) n.6619A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340974A>T | CA387790190 | BRCA2 | c.6619A>T (p.Thr2207Ser) c.6250A>T (p.Thr2084Ser) n.6619A>T | dbSNP |
| 13 | g.32340975C>A | CA387790203 | BRCA2 | c.6620C>A (p.Thr2207Lys) c.6251C>A (p.Thr2084Lys) n.6620C>A | dbSNP |
| 13 | g.32340975C>G | CA387790205 | BRCA2 | c.6620C>G (p.Thr2207Arg) c.6251C>G (p.Thr2084Arg) n.6620C>G | dbSNP |
| 13 | g.32340975C>T | CA387790208 | BRCA2 | c.6620C>T (p.Thr2207Ile) c.6251C>T (p.Thr2084Ile) n.6620C>T | dbSNP |
| 13 | g.32340975_32340976delinsCA | CA2082816401 | BRCA2 | c.6620_6621delinsCA (p.Thr2207=) c.6251_6252delinsCA (p.Thr2084=) n.6620_6621delinsCA | |
| 13 | g.32340976A= | CA2082816414 | BRCA2 | c.6621A= (p.Thr2207=) c.6252A= (p.Thr2084=) n.6621A= | |
| 13 | g.32340976A>C | CA483439311 | BRCA2 | c.6621A>C (p.Thr2207=) c.6252A>C (p.Thr2084=) n.6621A>C | |
| 13 | g.32340976A>G | CA483439312 | BRCA2 | c.6621A>G (p.Thr2207=) c.6252A>G (p.Thr2084=) n.6621A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340976A>T | CA483439313 | BRCA2 | c.6621A>T (p.Thr2207=) c.6252A>T (p.Thr2084=) n.6621A>T | ClinVar dbSNP |
| 13 | g.32340978del | CA10586560 | BRCA2 | c.6623del (p.Asn2208IlefsTer2) c.6254del (p.Asn2085IlefsTer2) n.6623del | ClinVar dbSNP |
| 13 | g.32340977_32340978del | CA2499222246 | BRCA2 | c.6622_6623del (p.Asn2208TyrfsTer16) c.6253_6254del (p.Asn2085TyrfsTer16) n.6622_6623del | ClinVar |
| 13 | g.32340977A>C | CA387790213 | BRCA2 | c.6622A>C (p.Asn2208His) c.6253A>C (p.Asn2085His) n.6622A>C | |
| 13 | g.32340977A>G | CA387790215 | BRCA2 | c.6622A>G (p.Asn2208Asp) c.6253A>G (p.Asn2085Asp) n.6622A>G | dbSNP |
| 13 | g.32340977A>T | CA387790218 | BRCA2 | c.6622A>T (p.Asn2208Tyr) c.6253A>T (p.Asn2085Tyr) n.6622A>T | dbSNP |
| 13 | g.32340977_32340979delinsAAT | CA2082816420 | BRCA2 | c.6622_6624delinsAAT (p.Asn2208=) c.6253_6255delinsAAT (p.Asn2085=) n.6622_6624delinsAAT | |
| 13 | g.32340978A= | CA2082816436 | BRCA2 | c.6623A= (p.Asn2208=) c.6254A= (p.Asn2085=) n.6623A= | |
| 13 | g.32340978A>C | CA387790226 | BRCA2 | c.6623A>C (p.Asn2208Thr) c.6254A>C (p.Asn2085Thr) n.6623A>C | |
| 13 | g.32340978A>G | CA6940971 | BRCA2 | c.6623A>G (p.Asn2208Ser) c.6254A>G (p.Asn2085Ser) n.6623A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340978A>T | CA387790223 | BRCA2 | c.6623A>T (p.Asn2208Ile) c.6254A>T (p.Asn2085Ile) n.6623A>T | dbSNP gnomAD v4 |
| 13 | g.32340981_32340982dup | CA024224 | BRCA2 | c.6626_6627dup (p.Glu2210Ter) c.6257_6258dup (p.Glu2087Ter) n.6626_6627dup | ClinVar dbSNP |
| 13 | g.32340981_32340982del | CA024219 | BRCA2 | c.6626_6627del (p.Ile2209ArgfsTer15) c.6257_6258del (p.Ile2086ArgfsTer15) n.6626_6627del | ClinVar dbSNP |
| 13 | g.32340979T>A | CA387790231 | BRCA2 | c.6624T>A (p.Asn2208Lys) c.6255T>A (p.Asn2085Lys) n.6624T>A | dbSNP |
| 13 | g.32340979T>C | CA024216 | BRCA2 | c.6624T>C (p.Asn2208=) c.6255T>C (p.Asn2085=) n.6624T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340979T>G | CA387790235 | BRCA2 | c.6624T>G (p.Asn2208Lys) c.6255T>G (p.Asn2085Lys) n.6624T>G | |
| 13 | g.32340979T= | CA2082816443 | BRCA2 | c.6624T= (p.Asn2208=) c.6255T= (p.Asn2085=) n.6624T= | |
| 13 | g.32340980del | CA2580088040 | BRCA2 | c.6625del (p.Ile2209Ter) c.6256del (p.Ile2086Ter) n.6625del | ClinVar |
| 13 | g.32340980A>C | CA387790237 | BRCA2 | c.6625A>C (p.Ile2209Leu) c.6256A>C (p.Ile2086Leu) n.6625A>C | dbSNP |
| 13 | g.32340980A>G | CA387790241 | BRCA2 | c.6625A>G (p.Ile2209Val) c.6256A>G (p.Ile2086Val) n.6625A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340980A>T | CA387790239 | BRCA2 | c.6625A>T (p.Ile2209Leu) c.6256A>T (p.Ile2086Leu) n.6625A>T | dbSNP |
| 13 | g.32340980dup | CA10589396 | BRCA2 | c.6625dup (p.Ile2209AsnfsTer16) c.6256dup (p.Ile2086AsnfsTer16) n.6625dup | ClinVar dbSNP |
| 13 | g.32340980_32340981delinsAT | CA2082816467 | BRCA2 | c.6625_6626delinsAT (p.Ile2209=) c.6256_6257delinsAT (p.Ile2086=) n.6625_6626delinsAT | |
| 13 | g.32340980_32340981delinsGA | CA913188572 | BRCA2 | c.6625_6626delinsGA (p.Ile2209Glu) c.6256_6257delinsGA (p.Ile2086Glu) n.6625_6626delinsGA | ClinVar dbSNP |
| 13 | g.32340980_32340988delinsATAGAAGTT | CA2082816460 | BRCA2 | c.6625_6633delinsATAGAAGTT (p.Ile2209=) c.6256_6264delinsATAGAAGTT (p.Ile2086=) n.6625_6633delinsATAGAAGTT | |
| 13 | g.32340981T>A | CA387790246 | BRCA2 | c.6626T>A (p.Ile2209Lys) c.6257T>A (p.Ile2086Lys) n.6626T>A | dbSNP gnomAD v4 |
| 13 | g.32340981T>C | CA024222 | BRCA2 | c.6626T>C (p.Ile2209Thr) c.6257T>C (p.Ile2086Thr) n.6626T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340981T>G | CA387790249 | BRCA2 | c.6626T>G (p.Ile2209Arg) c.6257T>G (p.Ile2086Arg) n.6626T>G | ClinVar |
| 13 | g.32340981T= | CA2082816481 | BRCA2 | c.6626T= (p.Ile2209=) c.6257T= (p.Ile2086=) n.6626T= | |
| 13 | g.32340982_32340989del | CA024226 | BRCA2 | c.6627_6634del (p.Ile2209MetfsTer13) c.6258_6265del (p.Ile2086MetfsTer13) n.6627_6634del | ClinVar dbSNP |
| 13 | g.32340982A= | CA2082816489 | BRCA2 | c.6627A= (p.Ile2209=) c.6258A= (p.Ile2086=) n.6627A= | |
| 13 | g.32340982A>C | CA337248 | BRCA2 | c.6627A>C (p.Ile2209=) c.6258A>C (p.Ile2086=) n.6627A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340982A>G | CA387790251 | BRCA2 | c.6627A>G (p.Ile2209Met) c.6258A>G (p.Ile2086Met) n.6627A>G | ClinVar dbSNP |
| 13 | g.32340982A>T | CA483439328 | BRCA2 | c.6627A>T (p.Ile2209=) c.6258A>T (p.Ile2086=) n.6627A>T | ClinVar dbSNP |
| 13 | g.32340984_32340986del | CA1139770785 | BRCA2 | c.6629_6631del (p.Glu2210del) c.6260_6262del (p.Glu2087del) n.6629_6631del | |
| 13 | g.32340983G>A | CA387790256 | BRCA2 | c.6628G>A (p.Glu2210Lys) c.6259G>A (p.Glu2087Lys) n.6628G>A | dbSNP COSMIC |
| 13 | g.32340983G>C | CA387790258 | BRCA2 | c.6628G>C (p.Glu2210Gln) c.6259G>C (p.Glu2087Gln) n.6628G>C | ClinVar dbSNP |
| 13 | g.32340983G= | CA2082816501 | BRCA2 | c.6628G= (p.Glu2210=) c.6259G= (p.Glu2087=) n.6628G= | |
| 13 | g.32340983G>T | CA387790261 | BRCA2 | c.6628G>T (p.Glu2210Ter) c.6259G>T (p.Glu2087Ter) n.6628G>T | dbSNP |
| 13 | g.32340983_32340985delinsGAA | CA2082816494 | BRCA2 | c.6628_6630delinsGAA (p.Glu2210=) c.6259_6261delinsGAA (p.Glu2087=) n.6628_6630delinsGAA | |
| 13 | g.32340984A>C | CA387790263 | BRCA2 | c.6629A>C (p.Glu2210Ala) c.6260A>C (p.Glu2087Ala) n.6629A>C | dbSNP |
| 13 | g.32340984A>G | CA387790265 | BRCA2 | c.6629A>G (p.Glu2210Gly) c.6260A>G (p.Glu2087Gly) n.6629A>G | |
| 13 | g.32340984A>T | CA387790268 | BRCA2 | c.6629A>T (p.Glu2210Val) c.6260A>T (p.Glu2087Val) n.6629A>T | dbSNP |
| 13 | g.32340984_32340985del | CA024228 | BRCA2 | c.6629_6630del (p.Glu2210GlyfsTer14) c.6260_6261del (p.Glu2087GlyfsTer14) n.6629_6630del | ClinVar dbSNP |
| 13 | g.32340985A>C | CA387790273 | BRCA2 | c.6630A>C (p.Glu2210Asp) c.6261A>C (p.Glu2087Asp) n.6630A>C | |
| 13 | g.32340985A>G | CA483439332 | BRCA2 | c.6630A>G (p.Glu2210=) c.6261A>G (p.Glu2087=) n.6630A>G | ClinVar dbSNP |
| 13 | g.32340985A>T | CA387790275 | BRCA2 | c.6630A>T (p.Glu2210Asp) c.6261A>T (p.Glu2087Asp) n.6630A>T | dbSNP |
| 13 | g.32340985_32340989delinsAGTTT | CA2082816516 | BRCA2 | c.6630_6634delinsAGTTT (p.Glu2210=) c.6261_6265delinsAGTTT (p.Glu2087=) n.6630_6634delinsAGTTT | |
| 13 | g.32340986G>A | CA387790283 | BRCA2 | c.6631G>A (p.Val2211Ile) c.6262G>A (p.Val2088Ile) n.6631G>A | ClinVar dbSNP |
| 13 | g.32340986G>C | CA387790281 | BRCA2 | c.6631G>C (p.Val2211Leu) c.6262G>C (p.Val2088Leu) n.6631G>C | dbSNP |
| 13 | g.32340986G= | CA2082816524 | BRCA2 | c.6631G= (p.Val2211=) c.6262G= (p.Val2088=) n.6631G= | |
| 13 | g.32340986G>T | CA16614197 | BRCA2 | c.6631G>T (p.Val2211Phe) c.6262G>T (p.Val2088Phe) n.6631G>T | ClinVar dbSNP |
| 13 | g.32340989_32340992del | CA024232 | BRCA2 | c.6634_6637del (p.Cys2212LeufsTer16) c.6265_6268del (p.Cys2089LeufsTer16) n.6634_6637del | ClinVar dbSNP |
| 13 | g.32340987T>A | CA387790286 | BRCA2 | c.6632T>A (p.Val2211Asp) c.6263T>A (p.Val2088Asp) n.6632T>A | dbSNP |
| 13 | g.32340987T>C | CA387790288 | BRCA2 | c.6632T>C (p.Val2211Ala) c.6263T>C (p.Val2088Ala) n.6632T>C | gnomAD v4 |
| 13 | g.32340987T>G | CA387790290 | BRCA2 | c.6632T>G (p.Val2211Gly) c.6263T>G (p.Val2088Gly) n.6632T>G | |
| 13 | g.32340988_32340992del | CA1139770790 | BRCA2 | c.6633_6637del (p.Cys2212TyrfsTer11) c.6264_6268del (p.Cys2089TyrfsTer11) n.6633_6637del | |
| 13 | g.32340988T>A | CA483439334 | BRCA2 | c.6633T>A (p.Val2211=) c.6264T>A (p.Val2088=) n.6633T>A | dbSNP |
| 13 | g.32340988T>C | CA024230 | BRCA2 | c.6633T>C (p.Val2211=) c.6264T>C (p.Val2088=) n.6633T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340988T>G | CA483439335 | BRCA2 | c.6633T>G (p.Val2211=) c.6264T>G (p.Val2088=) n.6633T>G | ClinVar dbSNP |
| 13 | g.32340988T= | CA2082816533 | BRCA2 | c.6633T= (p.Val2211=) c.6264T= (p.Val2088=) n.6633T= | |
| 13 | g.32340988_32340990delinsTTG | CA2082816536 | BRCA2 | c.6633_6635delinsTTG (p.Val2211=) c.6264_6266delinsTTG (p.Val2088=) n.6633_6635delinsTTG | |
| 13 | g.32340988_32340989insACTACTATATATACTACTTACTCCAAATATA | CA2499222247 | BRCA2 | c.6633_6634insACTACTATATATACTACTTACTCCAAATATA (p.Cys2212ThrfsTer23) c.6264_6265insACTACTATATATACTACTTACTCCAAATATA (p.Cys2089ThrfsTer23) n.6633_6634insACTACTATATATACTACTTACTCCAAATATA | dbSNP |
| 13 | g.32340989T>A | CA387790293 | BRCA2 | c.6634T>A (p.Cys2212Ser) c.6265T>A (p.Cys2089Ser) n.6634T>A | dbSNP |
| 13 | g.32340989T>C | CA387790295 | BRCA2 | c.6634T>C (p.Cys2212Arg) c.6265T>C (p.Cys2089Arg) n.6634T>C | dbSNP |
| 13 | g.32340989T>G | CA387790296 | BRCA2 | c.6634T>G (p.Cys2212Gly) c.6265T>G (p.Cys2089Gly) n.6634T>G | |
| 13 | g.32340990_32340991del | CA024234 | BRCA2 | c.6635_6636del (p.Cys2212PhefsTer12) c.6266_6267del (p.Cys2089PhefsTer12) n.6635_6636del | ClinVar dbSNP |
| 13 | g.32340990del | CA2580088041 | BRCA2 | c.6635del (p.Cys2212PhefsTer17) c.6266del (p.Cys2089PhefsTer17) n.6635del | ClinVar |
| 13 | g.32340990G>A | CA387790300 | BRCA2 | c.6635G>A (p.Cys2212Tyr) c.6266G>A (p.Cys2089Tyr) n.6635G>A | dbSNP |
| 13 | g.32340990G>C | CA387790302 | BRCA2 | c.6635G>C (p.Cys2212Ser) c.6266G>C (p.Cys2089Ser) n.6635G>C | dbSNP |
| 13 | g.32340990G= | CA2082816549 | BRCA2 | c.6635G= (p.Cys2212=) c.6266G= (p.Cys2089=) n.6635G= | |
| 13 | g.32340990G>T | CA387790304 | BRCA2 | c.6635G>T (p.Cys2212Phe) c.6266G>T (p.Cys2089Phe) n.6635G>T | ClinVar dbSNP |
| 13 | g.32340991T>A | CA387790307 | BRCA2 | c.6636T>A (p.Cys2212Ter) c.6267T>A (p.Cys2089Ter) n.6636T>A | dbSNP |
| 13 | g.32340991T>C | CA483439339 | BRCA2 | c.6636T>C (p.Cys2212=) c.6267T>C (p.Cys2089=) n.6636T>C | gnomAD v4 |
| 13 | g.32340991T>G | CA387790309 | BRCA2 | c.6636T>G (p.Cys2212Trp) c.6267T>G (p.Cys2089Trp) n.6636T>G | |
| 13 | g.32340992T>A | CA387790311 | BRCA2 | c.6637T>A (p.Ser2213Thr) c.6268T>A (p.Ser2090Thr) n.6637T>A | dbSNP |
| 13 | g.32340992T>C | CA024236 | BRCA2 | c.6637T>C (p.Ser2213Pro) c.6268T>C (p.Ser2090Pro) n.6637T>C | ClinVar dbSNP |
| 13 | g.32340992T>G | CA387790315 | BRCA2 | c.6637T>G (p.Ser2213Ala) c.6268T>G (p.Ser2090Ala) n.6637T>G | |
| 13 | g.32340992T= | CA2082816557 | BRCA2 | c.6637T= (p.Ser2213=) c.6268T= (p.Ser2090=) n.6637T= | |
| 13 | g.32340992_32340993delinsTC | CA2082816572 | BRCA2 | c.6637_6638delinsTC (p.Ser2213=) c.6268_6269delinsTC (p.Ser2090=) n.6637_6638delinsTC | |
| 13 | g.32340993del | CA024238 | BRCA2 | c.6638del (p.Ser2213LeufsTer16) c.6269del (p.Ser2090LeufsTer16) n.6638del | ClinVar dbSNP |
| 13 | g.32340993C>A | CA387790319 | BRCA2 | c.6638C>A (p.Ser2213Tyr) c.6269C>A (p.Ser2090Tyr) n.6638C>A | ClinVar dbSNP |
| 13 | g.32340993C= | CA2082816592 | BRCA2 | c.6638C= (p.Ser2213=) c.6269C= (p.Ser2090=) n.6638C= | |
| 13 | g.32340993C>G | CA387790322 | BRCA2 | c.6638C>G (p.Ser2213Cys) c.6269C>G (p.Ser2090Cys) n.6638C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340993C>T | CA348036 | BRCA2 | c.6638C>T (p.Ser2213Phe) c.6269C>T (p.Ser2090Phe) n.6638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340994T>A | CA483439341 | BRCA2 | c.6639T>A (p.Ser2213=) c.6270T>A (p.Ser2090=) n.6639T>A | dbSNP |
| 13 | g.32340994T>C | CA483439343 | BRCA2 | c.6639T>C (p.Ser2213=) c.6270T>C (p.Ser2090=) n.6639T>C | |
| 13 | g.32340994T>G | CA483439342 | BRCA2 | c.6639T>G (p.Ser2213=) c.6270T>G (p.Ser2090=) n.6639T>G | |
| 13 | g.32340995A= | CA2082816622 | BRCA2 | c.6640A= (p.Thr2214=) c.6271A= (p.Thr2091=) n.6640A= | |
| 13 | g.32340995A>C | CA387790328 | BRCA2 | c.6640A>C (p.Thr2214Pro) c.6271A>C (p.Thr2091Pro) n.6640A>C | dbSNP |
| 13 | g.32340995A>G | CA16606429 | BRCA2 | c.6640A>G (p.Thr2214Ala) c.6271A>G (p.Thr2091Ala) n.6640A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340995A>T | CA247514222 | BRCA2 | c.6640A>T (p.Thr2214Ser) c.6271A>T (p.Thr2091Ser) n.6640A>T | dbSNP |
| 13 | g.32340996C>A | CA387790334 | BRCA2 | c.6641C>A (p.Thr2214Asn) c.6272C>A (p.Thr2091Asn) n.6641C>A | |
| 13 | g.32340996C= | CA2082816633 | BRCA2 | c.6641C= (p.Thr2214=) c.6272C= (p.Thr2091=) n.6641C= | |
| 13 | g.32340996C>G | CA387790336 | BRCA2 | c.6641C>G (p.Thr2214Ser) c.6272C>G (p.Thr2091Ser) n.6641C>G | |
| 13 | g.32340996C>T | CA387790339 | BRCA2 | c.6641C>T (p.Thr2214Ile) c.6272C>T (p.Thr2091Ile) n.6641C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340996dup | CA024243 | BRCA2 | c.6641dup (p.Tyr2215LeufsTer10) c.6272dup (p.Tyr2092LeufsTer10) n.6641dup | ClinVar dbSNP |
| 13 | g.32340996_32340997delinsCT | CA2082816630 | BRCA2 | c.6641_6642delinsCT (p.Thr2214=) c.6272_6273delinsCT (p.Thr2091=) n.6641_6642delinsCT |