| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32324894_32328983dup | CA2580086925 | BRCA2 | c.317-182_632-460dup c.-53-182_263-460dup c.*95+68_*411-460dup n.515-182_830-460dup n.317-182_632-460dup | ClinVar |
| 13 | g.32326101_32326613del | CA2581463424 | BRCA2 | c.426_631del c.57_262del n.297_502del c.*205_*410del n.624_829del n.426_631del | |
| 13 | g.32326471_32326622del | CA2695217875 | BRCA2 | c.517-28_631+9del c.148-28_262+9del n.388-28_511del c.*296-28_*410+9del n.715-28_829+9del n.517-28_631+9del | |
| 13 | g.32326497_32326614del | CA2499222047 | BRCA2 | c.517-2_631+1del c.148-2_262+1del n.388-2_503del c.*296-2_*410+1del n.715-2_829+1del n.517-2_631+1del | ClinVar dbSNP |
| 13 | g.32326499_32327075delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | CA2082751656 | BRCA2 | c.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.148_262+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.*296_*410+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.715_829+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | |
| 13 | g.32326500_32327075del | CA1139663062 | BRCA2 | c.518_631+462del c.149_262+462del c.*297_*410+462del n.716_829+462del n.518_631+462del | ClinVar dbSNP |
| 13 | g.32326500_32327075delinsAAAGAAATTTTATTTCTTT | CA2697551694 | BRCA2 | c.518_631+462delinsAAAGAAATTTTATTTCTTT c.149_262+462delinsAAAGAAATTTTATTTCTTT c.*297_*410+462delinsAAAGAAATTTTATTTCTTT n.716_829+462delinsAAAGAAATTTTATTTCTTT n.518_631+462delinsAAAGAAATTTTATTTCTTT | ClinVar |
| 13 | g.32326594_32326596delinsTAG | CA2082752547 | BRCA2 | c.612_614delinsTAG (p.Leu204=) c.243_245delinsTAG (p.Leu81=) n.483_485delinsTAG c.*391_*393delinsTAG (n.*391_*393delinsTAG) n.810_812delinsTAG n.612_614delinsTAG | |
| 13 | g.32326595_32326596del | CA919242703 | BRCA2 | c.613_614del (p.Ser205PhefsTer9) c.244_245del (p.Ser82PhefsTer9) n.484_485del c.*392_*393del (n.*392_*393del) n.811_812del n.613_614del | ClinVar dbSNP |
| 13 | g.32326595_32326596delinsAG | CA2082752559 | BRCA2 | c.613_614delinsAG (p.Ser205=) c.244_245delinsAG (p.Ser82=) n.484_485delinsAG c.*392_*393delinsAG (n.*392_*393delinsAG) n.811_812delinsAG n.613_614delinsAG | |
| 13 | g.32326596del | CA645509357 | BRCA2 | c.614del (p.Ser205IlefsTer6) c.245del (p.Ser82IlefsTer6) n.485del c.*393del (n.*393del) n.812del n.614del | ClinVar dbSNP |
| 13 | g.32326596G>A | CA387758306 | BRCA2 | c.614G>A (p.Ser205Asn) c.245G>A (p.Ser82Asn) n.485G>A c.*393G>A (n.*393G>A) n.812G>A n.614G>A | |
| 13 | g.32326596G>C | CA387758308 | BRCA2 | c.614G>C (p.Ser205Thr) c.245G>C (p.Ser82Thr) n.485G>C c.*393G>C (n.*393G>C) n.812G>C n.614G>C | ClinVar dbSNP |
| 13 | g.32326596G>T | CA387758311 | BRCA2 | c.614G>T (p.Ser205Ile) c.245G>T (p.Ser82Ile) n.485G>T c.*393G>T (n.*393G>T) n.812G>T n.614G>T | |
| 13 | g.32326597T>A | CA387758317 | BRCA2 | c.615T>A (p.Ser205Arg) c.246T>A (p.Ser82Arg) n.486T>A c.*394T>A (n.*394T>A) n.813T>A n.615T>A | dbSNP |
| 13 | g.32326597T>C | CA483273906 | BRCA2 | c.615T>C (p.Ser205=) c.246T>C (p.Ser82=) n.486T>C c.*394T>C (n.*394T>C) n.813T>C n.615T>C | |
| 13 | g.32326597T>G | CA387758319 | BRCA2 | c.615T>G (p.Ser205Arg) c.246T>G (p.Ser82Arg) n.486T>G c.*394T>G (n.*394T>G) n.813T>G n.615T>G | |
| 13 | g.32326598T>A | CA387758325 | BRCA2 | c.616T>A (p.Ser206Thr) c.247T>A (p.Ser83Thr) n.487T>A c.*395T>A (n.*395T>A) n.814T>A n.616T>A | |
| 13 | g.32326598T>C | CA387758320 | BRCA2 | c.616T>C (p.Ser206Pro) c.247T>C (p.Ser83Pro) n.487T>C c.*395T>C (n.*395T>C) n.814T>C n.616T>C | |
| 13 | g.32326598T>G | CA387758322 | BRCA2 | c.616T>G (p.Ser206Ala) c.247T>G (p.Ser83Ala) n.487T>G c.*395T>G (n.*395T>G) n.814T>G n.616T>G | dbSNP |
| 13 | g.32326599C>A | CA387758328 | BRCA2 | c.617C>A (p.Ser206Tyr) c.248C>A (p.Ser83Tyr) n.488C>A c.*396C>A (n.*396C>A) n.815C>A n.617C>A | ClinVar dbSNP |
| 13 | g.32326599C= | CA2082752581 | BRCA2 | c.617C= (p.Ser206=) c.248C= (p.Ser83=) n.488C= c.*396C= (n.*396C=) n.815C= n.617C= | |
| 13 | g.32326599C>G | CA023724 | BRCA2 | c.617C>G (p.Ser206Cys) c.248C>G (p.Ser83Cys) n.488C>G c.*396C>G (n.*396C>G) n.815C>G n.617C>G | ClinVar dbSNP |
| 13 | g.32326599C>T | CA387758334 | BRCA2 | c.617C>T (p.Ser206Phe) c.248C>T (p.Ser83Phe) n.488C>T c.*396C>T (n.*396C>T) n.815C>T n.617C>T | ClinVar dbSNP |
| 13 | g.32326600T>A | CA483273908 | BRCA2 | c.618T>A (p.Ser206=) c.249T>A (p.Ser83=) n.489T>A c.*397T>A (n.*397T>A) n.816T>A n.618T>A | dbSNP |
| 13 | g.32326600T>C | CA483273909 | BRCA2 | c.618T>C (p.Ser206=) c.249T>C (p.Ser83=) n.489T>C c.*397T>C (n.*397T>C) n.816T>C n.618T>C | ClinVar |
| 13 | g.32326600T>G | CA483273910 | BRCA2 | c.618T>G (p.Ser206=) c.249T>G (p.Ser83=) n.489T>G c.*397T>G (n.*397T>G) n.816T>G n.618T>G | |
| 13 | g.32326601A= | CA2082752588 | BRCA2 | c.619A= (p.Thr207=) c.250A= (p.Thr84=) n.490A= c.*398A= (n.*398A=) n.817A= n.619A= | |
| 13 | g.32326601A>C | CA387758338 | BRCA2 | c.619A>C (p.Thr207Pro) c.250A>C (p.Thr84Pro) n.490A>C c.*398A>C (n.*398A>C) n.817A>C n.619A>C | ClinVar |
| 13 | g.32326601A>G | CA023736 | BRCA2 | c.619A>G (p.Thr207Ala) c.250A>G (p.Thr84Ala) n.490A>G c.*398A>G (n.*398A>G) n.817A>G n.619A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326601A>T | CA387758356 | BRCA2 | c.619A>T (p.Thr207Ser) c.250A>T (p.Thr84Ser) n.490A>T c.*398A>T (n.*398A>T) n.817A>T n.619A>T | dbSNP |
| 13 | g.32326602C>A | CA387758359 | BRCA2 | c.620C>A (p.Thr207Asn) c.251C>A (p.Thr84Asn) n.491C>A c.*399C>A (n.*399C>A) n.818C>A n.620C>A | gnomAD v4 |
| 13 | g.32326602C= | CA2082752598 | BRCA2 | c.620C= (p.Thr207=) c.251C= (p.Thr84=) n.491C= c.*399C= (n.*399C=) n.818C= n.620C= | |
| 13 | g.32326602C>G | CA387758363 | BRCA2 | c.620C>G (p.Thr207Ser) c.251C>G (p.Thr84Ser) n.491C>G c.*399C>G (n.*399C>G) n.818C>G n.620C>G | dbSNP |
| 13 | g.32326602C>T | CA023750 | BRCA2 | c.620C>T (p.Thr207Ile) c.251C>T (p.Thr84Ile) n.491C>T c.*399C>T (n.*399C>T) n.818C>T n.620C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326604_32326608dup | CA2580087040 | BRCA2 | c.622_626dup (p.Ile210CysfsTer3) c.253_257dup (p.Ile87CysfsTer3) n.493_497dup c.*401_*405dup (n.*401_*405dup) n.820_824dup n.622_626dup | ClinVar |
| 13 | g.32326603T>A | CA483273912 | BRCA2 | c.621T>A (p.Thr207=) c.252T>A (p.Thr84=) n.492T>A c.*400T>A (n.*400T>A) n.819T>A n.621T>A | |
| 13 | g.32326603T>C | CA483273913 | BRCA2 | c.621T>C (p.Thr207=) c.252T>C (p.Thr84=) n.492T>C c.*400T>C (n.*400T>C) n.819T>C n.621T>C | dbSNP |
| 13 | g.32326603T>G | CA483273911 | BRCA2 | c.621T>G (p.Thr207=) c.252T>G (p.Thr84=) n.492T>G c.*400T>G (n.*400T>G) n.819T>G n.621T>G | |
| 13 | g.32326604G>A | CA387758370 | BRCA2 | c.622G>A (p.Val208Met) c.253G>A (p.Val85Met) n.493G>A c.*401G>A (n.*401G>A) n.820G>A n.622G>A | dbSNP |
| 13 | g.32326604G>C | CA387758372 | BRCA2 | c.622G>C (p.Val208Leu) c.253G>C (p.Val85Leu) n.493G>C c.*401G>C (n.*401G>C) n.820G>C n.622G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326604G= | CA2082752606 | BRCA2 | c.622G= (p.Val208=) c.253G= (p.Val85=) n.493G= c.*401G= (n.*401G=) n.820G= n.622G= | |
| 13 | g.32326604G>T | CA387758380 | BRCA2 | c.622G>T (p.Val208Leu) c.253G>T (p.Val85Leu) n.493G>T c.*401G>T (n.*401G>T) n.820G>T n.622G>T | |
| 13 | g.32326605T>A | CA387758388 | BRCA2 | c.623T>A (p.Val208Glu) c.254T>A (p.Val85Glu) n.494T>A c.*402T>A (n.*402T>A) n.821T>A n.623T>A | dbSNP |
| 13 | g.32326605T>C | CA387758394 | BRCA2 | c.623T>C (p.Val208Ala) c.254T>C (p.Val85Ala) n.494T>C c.*402T>C (n.*402T>C) n.821T>C n.623T>C | dbSNP |
| 13 | g.32326605T>G | CA023784 | BRCA2 | c.623T>G (p.Val208Gly) c.254T>G (p.Val85Gly) n.494T>G c.*402T>G (n.*402T>G) n.821T>G n.623T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326605T= | CA2082752615 | BRCA2 | c.623T= (p.Val208=) c.254T= (p.Val85=) n.494T= c.*402T= (n.*402T=) n.821T= n.623T= | |
| 13 | g.32326606G>A | CA483273914 | BRCA2 | c.624G>A (p.Val208=) c.255G>A (p.Val85=) n.495G>A c.*403G>A (n.*403G>A) n.822G>A n.624G>A | ClinVar dbSNP |
| 13 | g.32326606G>C | CA483273915 | BRCA2 | c.624G>C (p.Val208=) c.255G>C (p.Val85=) n.495G>C c.*403G>C (n.*403G>C) n.822G>C n.624G>C | dbSNP |
| 13 | g.32326606G= | CA2082752622 | BRCA2 | c.624G= (p.Val208=) c.255G= (p.Val85=) n.495G= c.*403G= (n.*403G=) n.822G= n.624G= |