| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
| 13 | g.32362524_32362624del | CA913203499 | BRCA2 | c.7807_7907del (p.Ala2603CysfsTer4) c.7438_7538del (p.Ala2480CysfsTer4) c.274_374del (p.Ala92CysfsTer4) c.7815_7915del (p.Leu2606AlafsTer?) c.372_472del n.7815_7915del c.7711_7811del (p.Ala2571CysfsTer4) | |
| 13 | g.32362593T>A | CA16614217 | BRCA2 | c.7876T>A (p.Trp2626Arg) c.7507T>A (p.Trp2503Arg) c.343T>A (p.Trp115Arg) c.7884T>A (p.Asp2628Glu) c.441T>A n.7884T>A c.7780T>A (p.Trp2594Arg) | ClinVar dbSNP |
| 13 | g.32362593T>C | CA387747100 | BRCA2 | c.7876T>C (p.Trp2626Arg) c.7507T>C (p.Trp2503Arg) c.343T>C (p.Trp115Arg) c.7884T>C (p.Asp2628=) c.441T>C n.7884T>C c.7780T>C (p.Trp2594Arg) | ClinVar dbSNP |
| 13 | g.32362593T>G | CA387747101 | BRCA2 | c.7876T>G (p.Trp2626Gly) c.7507T>G (p.Trp2503Gly) c.343T>G (p.Trp115Gly) c.7884T>G (p.Asp2628Glu) c.441T>G n.7884T>G c.7780T>G (p.Trp2594Gly) | gnomAD v4 |
| 13 | g.32362593T= | CA2082831005 | BRCA2 | c.7876T= (p.Trp2626=) c.7507T= (p.Trp2503=) c.343T= (p.Trp115=) c.7884T= (p.Asp2628=) c.441T= n.7884T= c.7780T= (p.Trp2594=) | |
| 13 | g.32362593_32362594delinsTG | CA2082831012 | BRCA2 | c.7876_7877delinsTG (p.Trp2626=) c.7507_7508delinsTG (p.Trp2503=) c.343_344delinsTG (p.Trp115=) c.7884_7885delinsTG (p.Asp2628=) c.441_442delinsTG n.7884_7885delinsTG c.7780_7781delinsTG (p.Trp2594=) | |
| 13 | g.32362594G>A | CA025317 | BRCA2 | c.7877G>A (p.Trp2626Ter) c.7508G>A (p.Trp2503Ter) c.344G>A (p.Trp115Ter) c.7885G>A (p.Gly2629Arg) c.442G>A n.7885G>A c.7781G>A (p.Trp2594Ter) | ClinVar dbSNP |
| 13 | g.32362594G>C | CA387747102 | BRCA2 | c.7877G>C (p.Trp2626Ser) c.7508G>C (p.Trp2503Ser) c.344G>C (p.Trp115Ser) c.7885G>C (p.Gly2629Arg) c.442G>C n.7885G>C c.7781G>C (p.Trp2594Ser) | |
| 13 | g.32362594G= | CA2082831089 | BRCA2 | c.7877G= (p.Trp2626=) c.7508G= (p.Trp2503=) c.344G= (p.Trp115=) c.7885G= (p.Gly2629=) c.442G= n.7885G= c.7781G= (p.Trp2594=) | |
| 13 | g.32362594G>T | CA387747103 | BRCA2 | c.7877G>T (p.Trp2626Leu) c.7508G>T (p.Trp2503Leu) c.344G>T (p.Trp115Leu) c.7885G>T (p.Gly2629Ter) c.442G>T n.7885G>T c.7781G>T (p.Trp2594Leu) | COSMIC COSMIC |
| 13 | g.32362595del | CA658653812 | BRCA2 | c.7878del (p.Trp2626Ter) c.7509del (p.Trp2503Ter) c.345del (p.Trp115Ter) c.7886del (p.Gly2629AspfsTer14) c.443del n.7886del c.7782del (p.Trp2594Ter) | ClinVar dbSNP |
| 13 | g.32362595G>A | CA025318 | BRCA2 | c.7878G>A (p.Trp2626Ter) c.7509G>A (p.Trp2503Ter) c.345G>A (p.Trp115Ter) c.7886G>A (p.Gly2629Glu) c.443G>A n.7886G>A c.7782G>A (p.Trp2594Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32362595G>C | CA025319 | BRCA2 | c.7878G>C (p.Trp2626Cys) c.7509G>C (p.Trp2503Cys) c.345G>C (p.Trp115Cys) c.7886G>C (p.Gly2629Ala) c.443G>C n.7886G>C c.7782G>C (p.Trp2594Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32362595G= | CA2082831105 | BRCA2 | c.7878G= (p.Trp2626=) c.7509G= (p.Trp2503=) c.345G= (p.Trp115=) c.7886G= (p.Gly2629=) c.443G= n.7886G= c.7782G= (p.Trp2594=) | |
| 13 | g.32362595G>T | CA387747104 | BRCA2 | c.7878G>T (p.Trp2626Cys) c.7509G>T (p.Trp2503Cys) c.345G>T (p.Trp115Cys) c.7886G>T (p.Gly2629Val) c.443G>T n.7886G>T c.7782G>T (p.Trp2594Cys) | ClinVar dbSNP |
| 13 | g.32362595_32362598dup | CA10589455 | BRCA2 | c.7878_7881dup (p.Ile2628AspfsTer14) c.7509_7512dup (p.Ile2505AspfsTer14) c.345_348dup (p.Ile117AspfsTer14) c.7886_7889dup (p.Tyr2631IlefsTer?) c.443_446dup n.7886_7889dup c.7782_7785dup (p.Ile2596AspfsTer14) | ClinVar dbSNP |
| 13 | g.32362596A= | CA2082831118 | BRCA2 | c.7879A= (p.Ile2627=) c.7510A= (p.Ile2504=) c.346A= (p.Ile116=) c.7887A= (p.Gly2629=) c.444A= n.7887A= c.7783A= (p.Ile2595=) | |
| 13 | g.32362596A>C | CA387747105 | BRCA2 | c.7879A>C (p.Ile2627Leu) c.7510A>C (p.Ile2504Leu) c.346A>C (p.Ile116Leu) c.7887A>C (p.Gly2629=) c.444A>C n.7887A>C c.7783A>C (p.Ile2595Leu) | |
| 13 | g.32362596A>G | CA025320 | BRCA2 | c.7879A>G (p.Ile2627Val) c.7510A>G (p.Ile2504Val) c.346A>G (p.Ile116Val) c.7887A>G (p.Gly2629=) c.444A>G n.7887A>G c.7783A>G (p.Ile2595Val) | ClinVar dbSNP |
| 13 | g.32362596A>T | CA025321 | BRCA2 | c.7879A>T (p.Ile2627Phe) c.7510A>T (p.Ile2504Phe) c.346A>T (p.Ile116Phe) c.7887A>T (p.Gly2629=) c.444A>T n.7887A>T c.7783A>T (p.Ile2595Phe) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362597T>A | CA10579758 | BRCA2 | c.7880T>A (p.Ile2627Asn) c.7511T>A (p.Ile2504Asn) c.347T>A (p.Ile116Asn) c.7888T>A (p.Ser2630Thr) c.445T>A n.7888T>A c.7784T>A (p.Ile2595Asn) | ClinVar dbSNP |
| 13 | g.32362597T>C | CA387747106 | BRCA2 | c.7880T>C (p.Ile2627Thr) c.7511T>C (p.Ile2504Thr) c.347T>C (p.Ile116Thr) c.7888T>C (p.Ser2630Pro) c.445T>C n.7888T>C c.7784T>C (p.Ile2595Thr) | |
| 13 | g.32362597T>G | CA387747107 | BRCA2 | c.7880T>G (p.Ile2627Ser) c.7511T>G (p.Ile2504Ser) c.347T>G (p.Ile116Ser) c.7888T>G (p.Ser2630Ala) c.445T>G n.7888T>G c.7784T>G (p.Ile2595Ser) | ClinVar dbSNP |
| 13 | g.32362597T= | CA2082831148 | BRCA2 | c.7880T= (p.Ile2627=) c.7511T= (p.Ile2504=) c.347T= (p.Ile116=) c.7888T= (p.Ser2630=) c.445T= n.7888T= c.7784T= (p.Ile2595=) | |
| 13 | g.32362598C>A | CA483260915 | BRCA2 | c.7881C>A (p.Ile2627=) c.7512C>A (p.Ile2504=) c.348C>A (p.Ile116=) c.7889C>A (p.Ser2630Ter) c.446C>A n.7889C>A c.7785C>A (p.Ile2595=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362598C= | CA2082831160 | BRCA2 | c.7881C= (p.Ile2627=) c.7512C= (p.Ile2504=) c.348C= (p.Ile116=) c.7889C= (p.Ser2630=) c.446C= n.7889C= c.7785C= (p.Ile2595=) | |
| 13 | g.32362598C>G | CA387747108 | BRCA2 | c.7881C>G (p.Ile2627Met) c.7512C>G (p.Ile2504Met) c.348C>G (p.Ile116Met) c.7889C>G (p.Ser2630Ter) c.446C>G n.7889C>G c.7785C>G (p.Ile2595Met) | dbSNP |
| 13 | g.32362598C>T | CA483260916 | BRCA2 | c.7881C>T (p.Ile2627=) c.7512C>T (p.Ile2504=) c.348C>T (p.Ile116=) c.7889C>T (p.Ser2630Leu) c.446C>T n.7889C>T c.7785C>T (p.Ile2595=) | dbSNP |
| 13 | g.32362599A= | CA2082831167 | BRCA2 | c.7882A= (p.Ile2628=) c.7513A= (p.Ile2505=) c.349A= (p.Ile117=) c.7890A= (p.Ser2630=) c.447A= n.7890A= c.7786A= (p.Ile2596=) | |
| 13 | g.32362599A>C | CA387747109 | BRCA2 | c.7882A>C (p.Ile2628Leu) c.7513A>C (p.Ile2505Leu) c.349A>C (p.Ile117Leu) c.7890A>C (p.Ser2630=) c.447A>C n.7890A>C c.7786A>C (p.Ile2596Leu) | |
| 13 | g.32362599A>G | CA387747110 | BRCA2 | c.7882A>G (p.Ile2628Val) c.7513A>G (p.Ile2505Val) c.349A>G (p.Ile117Val) c.7890A>G (p.Ser2630=) c.447A>G n.7890A>G c.7786A>G (p.Ile2596Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32362599A>T | CA387747111 | BRCA2 | c.7882A>T (p.Ile2628Leu) c.7513A>T (p.Ile2505Leu) c.349A>T (p.Ile117Leu) c.7890A>T (p.Ser2630=) c.447A>T n.7890A>T c.7786A>T (p.Ile2596Leu) | ClinVar dbSNP |
| 13 | g.32362600T>A | CA387747112 | BRCA2 | c.7883T>A (p.Ile2628Lys) c.7514T>A (p.Ile2505Lys) c.350T>A (p.Ile117Lys) c.7891T>A (p.Tyr2631Asn) c.448T>A n.7891T>A c.7787T>A (p.Ile2596Lys) | dbSNP |
| 13 | g.32362600T>C | CA10586080 | BRCA2 | c.7883T>C (p.Ile2628Thr) c.7514T>C (p.Ile2505Thr) c.350T>C (p.Ile117Thr) c.7891T>C (p.Tyr2631His) c.448T>C n.7891T>C c.7787T>C (p.Ile2596Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32362600T>G | CA387747113 | BRCA2 | c.7883T>G (p.Ile2628Arg) c.7514T>G (p.Ile2505Arg) c.350T>G (p.Ile117Arg) c.7891T>G (p.Tyr2631Asp) c.448T>G n.7891T>G c.7787T>G (p.Ile2596Arg) | |
| 13 | g.32362600T= | CA2082831174 | BRCA2 | c.7883T= (p.Ile2628=) c.7514T= (p.Ile2505=) c.350T= (p.Ile117=) c.7891T= (p.Tyr2631=) c.448T= n.7891T= c.7787T= (p.Ile2596=) | |
| 13 | g.32362601A= | CA2082831184 | BRCA2 | c.7884A= (p.Ile2628=) c.7515A= (p.Ile2505=) c.351A= (p.Ile117=) c.7892A= (p.Tyr2631=) c.449A= n.7892A= c.7788A= (p.Ile2596=) | |
| 13 | g.32362601A>C | CA483260917 | BRCA2 | c.7884A>C (p.Ile2628=) c.7515A>C (p.Ile2505=) c.351A>C (p.Ile117=) c.7892A>C (p.Tyr2631Ser) c.449A>C n.7892A>C c.7788A>C (p.Ile2596=) | |
| 13 | g.32362601A>G | CA6941162 | BRCA2 | c.7884A>G (p.Ile2628Met) c.7515A>G (p.Ile2505Met) c.351A>G (p.Ile117Met) c.7892A>G (p.Tyr2631Cys) c.449A>G n.7892A>G c.7788A>G (p.Ile2596Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32362601A>T | CA483260922 | BRCA2 | c.7884A>T (p.Ile2628=) c.7515A>T (p.Ile2505=) c.351A>T (p.Ile117=) c.7892A>T (p.Tyr2631Phe) c.449A>T n.7892A>T c.7788A>T (p.Ile2596=) | ClinVar dbSNP |
| 13 | g.32362601dup | CA025322 | BRCA2 | c.7884dup (p.Trp2629MetfsTer12) c.7515dup (p.Trp2506MetfsTer12) c.351dup (p.Trp118MetfsTer12) c.7892dup (p.Tyr2631Ter) c.449dup n.7892dup c.7788dup (p.Trp2597MetfsTer12) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362602T>A | CA387747116 | BRCA2 | c.7885T>A (p.Trp2629Arg) c.7516T>A (p.Trp2506Arg) c.352T>A (p.Trp118Arg) c.7893T>A (p.Tyr2631Ter) c.450T>A n.7893T>A c.7789T>A (p.Trp2597Arg) | |
| 13 | g.32362602T>C | CA387747114 | BRCA2 | c.7885T>C (p.Trp2629Arg) c.7516T>C (p.Trp2506Arg) c.352T>C (p.Trp118Arg) c.7893T>C (p.Tyr2631=) c.450T>C n.7893T>C c.7789T>C (p.Trp2597Arg) | ClinVar |
| 13 | g.32362602T>G | CA387747115 | BRCA2 | c.7885T>G (p.Trp2629Gly) c.7516T>G (p.Trp2506Gly) c.352T>G (p.Trp118Gly) c.7893T>G (p.Tyr2631Ter) c.450T>G n.7893T>G c.7789T>G (p.Trp2597Gly) | |
| 13 | g.32362603G>A | CA025323 | BRCA2 | c.7886G>A (p.Trp2629Ter) c.7517G>A (p.Trp2506Ter) c.353G>A (p.Trp118Ter) c.7894G>A (p.Gly2632Arg) c.451G>A n.7894G>A c.7790G>A (p.Trp2597Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362603G>C | CA387747117 | BRCA2 | c.7886G>C (p.Trp2629Ser) c.7517G>C (p.Trp2506Ser) c.353G>C (p.Trp118Ser) c.7894G>C (p.Gly2632Arg) c.451G>C n.7894G>C c.7790G>C (p.Trp2597Ser) | dbSNP |
| 13 | g.32362603G= | CA2082831197 | BRCA2 | c.7886G= (p.Trp2629=) c.7517G= (p.Trp2506=) c.353G= (p.Trp118=) c.7894G= (p.Gly2632=) c.451G= n.7894G= c.7790G= (p.Trp2597=) | |
| 13 | g.32362603G>T | CA387747118 | BRCA2 | c.7886G>T (p.Trp2629Leu) c.7517G>T (p.Trp2506Leu) c.353G>T (p.Trp118Leu) c.7894G>T (p.Gly2632Ter) c.451G>T n.7894G>T c.7790G>T (p.Trp2597Leu) | |
| 13 | g.32362603_32362614del | CA2499222313 | BRCA2 | c.7886_7897del (p.Trp2629_Ala2633delinsSer) c.7517_7528del (p.Trp2506_Ala2510delinsSer) c.353_364del (p.Trp118_Ala122delinsSer) c.7894_7905del (p.Gly2632_Gln2635del) c.451_462del n.7894_7905del c.7790_7801del (p.Trp2597_Ala2601delinsSer) | ClinVar dbSNP |