| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32357226_32357777del | CA2580087492 | BRCA2 | c.7618-516_7653del c.7249-516_7284del c.85-516_120del c.183-516_218del n.7618-516_7653del c.7522-516_7557del | ClinVar |
| 13 | g.32357740_32357767delinsGTGTTATTTTGTTTTATT | CA2580087327 | BRCA2 | c.7618-2_7643delinsGTGTTATTTTGTTTTATT c.7249-2_7274delinsGTGTTATTTTGTTTTATT c.85-2_110delinsGTGTTATTTTGTTTTATT c.183-2_208delinsGTGTTATTTTGTTTTATT n.7618-2_7643delinsGTGTTATTTTGTTTTATT c.7522-2_7547delinsGTGTTATTTTGTTTTATT | ClinVar |
| 13 | g.32357757_32357767delinsGTTTCTAAACA | CA2082817628 | BRCA2 | c.7633_7643delinsGTTTCTAAACA (p.Val2545=) c.7264_7274delinsGTTTCTAAACA (p.Val2422=) c.100_110delinsGTTTCTAAACA (p.Val34=) c.198_208delinsGTTTCTAAACA n.7633_7643delinsGTTTCTAAACA c.7537_7547delinsGTTTCTAAACA (p.Val2513=) | |
| 13 | g.32357760_32357769del | CA025203 | BRCA2 | c.7636_7645del (p.Ser2546AlafsTer2) c.7267_7276del (p.Ser2423AlafsTer2) c.103_112del (p.Ser35AlafsTer2) c.201_210del n.7636_7645del c.7540_7549del (p.Ser2514AlafsTer2) | ClinVar dbSNP |
| 13 | g.32357760_32357770delinsTCTAAACATTG | CA2082817653 | BRCA2 | c.7636_7646delinsTCTAAACATTG (p.Ser2546=) c.7267_7277delinsTCTAAACATTG (p.Ser2423=) c.103_113delinsTCTAAACATTG (p.Ser35=) c.201_211delinsTCTAAACATTG n.7636_7646delinsTCTAAACATTG c.7540_7550delinsTCTAAACATTG (p.Ser2514=) | |
| 13 | g.32357762_32357771del | CA10589443 | BRCA2 | c.7638_7647del (p.Lys2547Ter) c.7269_7278del (p.Lys2424Ter) c.105_114del (p.Lys36Ter) c.203_212del n.7638_7647del c.7542_7551del (p.Lys2515Ter) | ClinVar dbSNP |
| 13 | g.32357762T>A | CA483439144 | BRCA2 | c.7638T>A (p.Ser2546=) c.7269T>A (p.Ser2423=) c.105T>A (p.Ser35=) c.203T>A n.7638T>A c.7542T>A (p.Ser2514=) | |
| 13 | g.32357762T>C | CA025206 | BRCA2 | c.7638T>C (p.Ser2546=) c.7269T>C (p.Ser2423=) c.105T>C (p.Ser35=) c.203T>C n.7638T>C c.7542T>C (p.Ser2514=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32357762T>G | CA483439145 | BRCA2 | c.7638T>G (p.Ser2546=) c.7269T>G (p.Ser2423=) c.105T>G (p.Ser35=) c.203T>G n.7638T>G c.7542T>G (p.Ser2514=) | |
| 13 | g.32357762T= | CA2082817685 | BRCA2 | c.7638T= (p.Ser2546=) c.7269T= (p.Ser2423=) c.105T= (p.Ser35=) c.203T= n.7638T= c.7542T= (p.Ser2514=) | |
| 13 | g.32357762dup | CA2695217913 | BRCA2 | c.7638dup (p.Lys2547Ter) c.7269dup (p.Lys2424Ter) c.105dup (p.Lys36Ter) c.203dup n.7638dup c.7542dup (p.Lys2515Ter) | |
| 13 | g.32357763A= | CA2082817697 | BRCA2 | c.7639A= (p.Lys2547=) c.7270A= (p.Lys2424=) c.106A= (p.Lys36=) c.204A= n.7639A= c.7543A= (p.Lys2515=) | |
| 13 | g.32357763A>C | CA387744845 | BRCA2 | c.7639A>C (p.Lys2547Gln) c.7270A>C (p.Lys2424Gln) c.106A>C (p.Lys36Gln) c.204A>C n.7639A>C c.7543A>C (p.Lys2515Gln) | ClinVar dbSNP |
| 13 | g.32357763A>G | CA025207 | BRCA2 | c.7639A>G (p.Lys2547Glu) c.7270A>G (p.Lys2424Glu) c.106A>G (p.Lys36Glu) c.204A>G n.7639A>G c.7543A>G (p.Lys2515Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357763A>T | CA387744842 | BRCA2 | c.7639A>T (p.Lys2547Ter) c.7270A>T (p.Lys2424Ter) c.106A>T (p.Lys36Ter) c.204A>T n.7639A>T c.7543A>T (p.Lys2515Ter) | dbSNP |
| 13 | g.32357765del | CA2573149407 | BRCA2 | c.7641del (p.Lys2547AsnfsTer4) c.7272del (p.Lys2424AsnfsTer4) c.108del (p.Lys36AsnfsTer4) c.206del n.7641del c.7545del (p.Lys2515AsnfsTer4) | ClinVar dbSNP |
| 13 | g.32357764A= | CA2082817705 | BRCA2 | c.7640A= (p.Lys2547=) c.7271A= (p.Lys2424=) c.107A= (p.Lys36=) c.205A= n.7640A= c.7544A= (p.Lys2515=) | |
| 13 | g.32357764A>C | CA387744848 | BRCA2 | c.7640A>C (p.Lys2547Thr) c.7271A>C (p.Lys2424Thr) c.107A>C (p.Lys36Thr) c.205A>C n.7640A>C c.7544A>C (p.Lys2515Thr) | |
| 13 | g.32357764A>G | CA387744851 | BRCA2 | c.7640A>G (p.Lys2547Arg) c.7271A>G (p.Lys2424Arg) c.107A>G (p.Lys36Arg) c.205A>G n.7640A>G c.7544A>G (p.Lys2515Arg) | dbSNP |
| 13 | g.32357764A>T | CA387744853 | BRCA2 | c.7640A>T (p.Lys2547Ile) c.7271A>T (p.Lys2424Ile) c.107A>T (p.Lys36Ile) c.205A>T n.7640A>T c.7544A>T (p.Lys2515Ile) | ClinVar dbSNP |
| 13 | g.32357765A= | CA2082817715 | BRCA2 | c.7641A= (p.Lys2547=) c.7272A= (p.Lys2424=) c.108A= (p.Lys36=) c.206A= n.7641A= c.7545A= (p.Lys2515=) | |
| 13 | g.32357765A>C | CA387744856 | BRCA2 | c.7641A>C (p.Lys2547Asn) c.7272A>C (p.Lys2424Asn) c.108A>C (p.Lys36Asn) c.206A>C n.7641A>C c.7545A>C (p.Lys2515Asn) | |
| 13 | g.32357765A>G | CA483439148 | BRCA2 | c.7641A>G (p.Lys2547=) c.7272A>G (p.Lys2424=) c.108A>G (p.Lys36=) c.206A>G n.7641A>G c.7545A>G (p.Lys2515=) | ClinVar dbSNP |
| 13 | g.32357765A>T | CA387744858 | BRCA2 | c.7641A>T (p.Lys2547Asn) c.7272A>T (p.Lys2424Asn) c.108A>T (p.Lys36Asn) c.206A>T n.7641A>T c.7545A>T (p.Lys2515Asn) | dbSNP |
| 13 | g.32357766C>A | CA387744862 | BRCA2 | c.7642C>A (p.His2548Asn) c.7273C>A (p.His2425Asn) c.109C>A (p.His37Asn) c.207C>A n.7642C>A c.7546C>A (p.His2516Asn) | |
| 13 | g.32357766C>G | CA387744863 | BRCA2 | c.7642C>G (p.His2548Asp) c.7273C>G (p.His2425Asp) c.109C>G (p.His37Asp) c.207C>G n.7642C>G c.7546C>G (p.His2516Asp) | dbSNP |
| 13 | g.32357766C>T | CA387744865 | BRCA2 | c.7642C>T (p.His2548Tyr) c.7273C>T (p.His2425Tyr) c.109C>T (p.His37Tyr) c.207C>T n.7642C>T c.7546C>T (p.His2516Tyr) | |
| 13 | g.32357766_32357768delinsCAT | CA2082817724 | BRCA2 | c.7642_7644delinsCAT (p.His2548=) c.7273_7275delinsCAT (p.His2425=) c.109_111delinsCAT (p.His37=) c.207_209delinsCAT n.7642_7644delinsCAT c.7546_7548delinsCAT (p.His2516=) | |
| 13 | g.32357767A= | CA2082817736 | BRCA2 | c.7643A= (p.His2548=) c.7274A= (p.His2425=) c.110A= (p.His37=) c.208A= n.7643A= c.7547A= (p.His2516=) | |
| 13 | g.32357767A>C | CA387744869 | BRCA2 | c.7643A>C (p.His2548Pro) c.7274A>C (p.His2425Pro) c.110A>C (p.His37Pro) c.208A>C n.7643A>C c.7547A>C (p.His2516Pro) | |
| 13 | g.32357767A>G | CA025208 | BRCA2 | c.7643A>G (p.His2548Arg) c.7274A>G (p.His2425Arg) c.110A>G (p.His37Arg) c.208A>G n.7643A>G c.7547A>G (p.His2516Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32357767A>T | CA025209 | BRCA2 | c.7643A>T (p.His2548Leu) c.7274A>T (p.His2425Leu) c.110A>T (p.His37Leu) c.208A>T n.7643A>T c.7547A>T (p.His2516Leu) | ClinVar dbSNP |
| 13 | g.32357767_32357768del | CA10589444 | BRCA2 | c.7643_7644del (p.His2548LeufsTer5) c.7274_7275del (p.His2425LeufsTer5) c.110_111del (p.His37LeufsTer5) c.208_209del n.7643_7644del c.7547_7548del (p.His2516LeufsTer5) | ClinVar dbSNP |
| 13 | g.32357768T>A | CA387744876 | BRCA2 | c.7644T>A (p.His2548Gln) c.7275T>A (p.His2425Gln) c.111T>A (p.His37Gln) c.209T>A n.7644T>A c.7548T>A (p.His2516Gln) | dbSNP |
| 13 | g.32357768T>C | CA247470895 | BRCA2 | c.7644T>C (p.His2548=) c.7275T>C (p.His2425=) c.111T>C (p.His37=) c.209T>C n.7644T>C c.7548T>C (p.His2516=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357768T>G | CA387744877 | BRCA2 | c.7644T>G (p.His2548Gln) c.7275T>G (p.His2425Gln) c.111T>G (p.His37Gln) c.209T>G n.7644T>G c.7548T>G (p.His2516Gln) | |
| 13 | g.32357768T= | CA2082817746 | BRCA2 | c.7644T= (p.His2548=) c.7275T= (p.His2425=) c.111T= (p.His37=) c.209T= n.7644T= c.7548T= (p.His2516=) | |
| 13 | g.32357769dup | CA2695217916 | BRCA2 | c.7645dup (p.Cys2549LeufsTer5) c.7276dup (p.Cys2426LeufsTer5) c.112dup (p.Cys38LeufsTer5) c.210dup n.7645dup c.7549dup (p.Cys2517LeufsTer5) | |
| 13 | g.32357769T>A | CA387744886 | BRCA2 | c.7645T>A (p.Cys2549Ser) c.7276T>A (p.Cys2426Ser) c.112T>A (p.Cys38Ser) c.210T>A n.7645T>A c.7549T>A (p.Cys2517Ser) | dbSNP |
| 13 | g.32357769T>C | CA387744884 | BRCA2 | c.7645T>C (p.Cys2549Arg) c.7276T>C (p.Cys2426Arg) c.112T>C (p.Cys38Arg) c.210T>C n.7645T>C c.7549T>C (p.Cys2517Arg) | |
| 13 | g.32357769T>G | CA387744881 | BRCA2 | c.7645T>G (p.Cys2549Gly) c.7276T>G (p.Cys2426Gly) c.112T>G (p.Cys38Gly) c.210T>G n.7645T>G c.7549T>G (p.Cys2517Gly) | ClinVar dbSNP |
| 13 | g.32357769T= | CA2082817747 | BRCA2 | c.7645T= (p.Cys2549=) c.7276T= (p.Cys2426=) c.112T= (p.Cys38=) c.210T= n.7645T= c.7549T= (p.Cys2517=) | |
| 13 | g.32357770G>A | CA387744890 | BRCA2 | c.7646G>A (p.Cys2549Tyr) c.7277G>A (p.Cys2426Tyr) c.113G>A (p.Cys38Tyr) c.211G>A n.7646G>A c.7550G>A (p.Cys2517Tyr) | dbSNP gnomAD v4 |
| 13 | g.32357770G>C | CA387744892 | BRCA2 | c.7646G>C (p.Cys2549Ser) c.7277G>C (p.Cys2426Ser) c.113G>C (p.Cys38Ser) c.211G>C n.7646G>C c.7550G>C (p.Cys2517Ser) | ClinVar dbSNP |
| 13 | g.32357770G= | CA2082817748 | BRCA2 | c.7646G= (p.Cys2549=) c.7277G= (p.Cys2426=) c.113G= (p.Cys38=) c.211G= n.7646G= c.7550G= (p.Cys2517=) | |
| 13 | g.32357770G>T | CA387744895 | BRCA2 | c.7646G>T (p.Cys2549Phe) c.7277G>T (p.Cys2426Phe) c.113G>T (p.Cys38Phe) c.211G>T n.7646G>T c.7550G>T (p.Cys2517Phe) | dbSNP |
| 13 | g.32357771C>A | CA025210 | BRCA2 | c.7647C>A (p.Cys2549Ter) c.7278C>A (p.Cys2426Ter) c.114C>A (p.Cys38Ter) c.212C>A n.7647C>A c.7551C>A (p.Cys2517Ter) | ClinVar dbSNP |
| 13 | g.32357771C= | CA2082817769 | BRCA2 | c.7647C= (p.Cys2549=) c.7278C= (p.Cys2426=) c.114C= (p.Cys38=) c.212C= n.7647C= c.7551C= (p.Cys2517=) | |
| 13 | g.32357771C>G | CA387744899 | BRCA2 | c.7647C>G (p.Cys2549Trp) c.7278C>G (p.Cys2426Trp) c.114C>G (p.Cys38Trp) c.212C>G n.7647C>G c.7551C>G (p.Cys2517Trp) | dbSNP |
| 13 | g.32357771C>T | CA483439151 | BRCA2 | c.7647C>T (p.Cys2549=) c.7278C>T (p.Cys2426=) c.114C>T (p.Cys38=) c.212C>T n.7647C>T c.7551C>T (p.Cys2517=) | ClinVar dbSNP gnomAD v4 |