| 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.32363199G>A | CA387748625 | BRCA2 | c.7997G>A (p.Arg2666Lys) c.7628G>A (p.Arg2543Lys) c.464G>A (p.Arg155Lys) c.8005G>A (n.8005G>A) c.562G>A c.7901G>A (p.Arg2634Lys) | dbSNP |
| 13 | g.32363199G>C | CA025392 | BRCA2 | c.7997G>C (p.Arg2666Thr) c.7628G>C (p.Arg2543Thr) c.464G>C (p.Arg155Thr) c.8005G>C (n.8005G>C) c.562G>C c.7901G>C (p.Arg2634Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363199G= | CA2082834275 | BRCA2 | c.7997G= (p.Arg2666=) c.7628G= (p.Arg2543=) c.464G= (p.Arg155=) c.8005G= (n.8005G=) c.562G= c.7901G= (p.Arg2634=) | |
| 13 | g.32363199G>T | CA387748635 | BRCA2 | c.7997G>T (p.Arg2666Ile) c.7628G>T (p.Arg2543Ile) c.464G>T (p.Arg155Ile) c.8005G>T (n.8005G>T) c.562G>T c.7901G>T (p.Arg2634Ile) | |
| 13 | g.32363199_32363200delinsGA | CA2082834272 | BRCA2 | c.7997_7998delinsGA (p.Arg2666=) c.7628_7629delinsGA (p.Arg2543=) c.464_465delinsGA (p.Arg155=) c.8005_8006delinsGA (n.8005_8006delinsGA) c.562_563delinsGA c.7901_7902delinsGA (p.Arg2634=) | |
| 13 | g.32363200A>C | CA387748642 | BRCA2 | c.7998A>C (p.Arg2666Ser) c.7629A>C (p.Arg2543Ser) c.465A>C (p.Arg155Ser) c.8006A>C (n.8006A>C) c.563A>C c.7902A>C (p.Arg2634Ser) | |
| 13 | g.32363200A>G | CA483439441 | BRCA2 | c.7998A>G (p.Arg2666=) c.7629A>G (p.Arg2543=) c.465A>G (p.Arg155=) c.8006A>G (n.8006A>G) c.563A>G c.7902A>G (p.Arg2634=) | |
| 13 | g.32363200A>T | CA387748641 | BRCA2 | c.7998A>T (p.Arg2666Ser) c.7629A>T (p.Arg2543Ser) c.465A>T (p.Arg155Ser) c.8006A>T (n.8006A>T) c.563A>T c.7902A>T (p.Arg2634Ser) | dbSNP |
| 13 | g.32363201del | CA16619775 | BRCA2 | c.7999del (p.Ser2667AlafsTer6) c.7630del (p.Ser2544AlafsTer6) c.466del (p.Ser156AlafsTer6) c.8007del (n.8007del) c.564del c.7903del (p.Ser2635AlafsTer6) | ClinVar dbSNP |
| 13 | g.32363201A>C | CA387748643 | BRCA2 | c.7999A>C (p.Ser2667Arg) c.7630A>C (p.Ser2544Arg) c.466A>C (p.Ser156Arg) c.8007A>C (n.8007A>C) c.564A>C c.7903A>C (p.Ser2635Arg) | |
| 13 | g.32363201A>G | CA387748644 | BRCA2 | c.7999A>G (p.Ser2667Gly) c.7630A>G (p.Ser2544Gly) c.466A>G (p.Ser156Gly) c.8007A>G (n.8007A>G) c.564A>G c.7903A>G (p.Ser2635Gly) | |
| 13 | g.32363201A>T | CA387748645 | BRCA2 | c.7999A>T (p.Ser2667Cys) c.7630A>T (p.Ser2544Cys) c.466A>T (p.Ser156Cys) c.8007A>T (n.8007A>T) c.564A>T c.7903A>T (p.Ser2635Cys) | dbSNP |
| 13 | g.32363202G>A | CA387748646 | BRCA2 | c.8000G>A (p.Ser2667Asn) c.7631G>A (p.Ser2544Asn) c.467G>A (p.Ser156Asn) c.8008G>A (n.8008G>A) c.565G>A c.7904G>A (p.Ser2635Asn) | dbSNP |
| 13 | g.32363202G>C | CA387748647 | BRCA2 | c.8000G>C (p.Ser2667Thr) c.7631G>C (p.Ser2544Thr) c.467G>C (p.Ser156Thr) c.8008G>C (n.8008G>C) c.565G>C c.7904G>C (p.Ser2635Thr) | dbSNP |
| 13 | g.32363202G>T | CA387748648 | BRCA2 | c.8000G>T (p.Ser2667Ile) c.7631G>T (p.Ser2544Ile) c.467G>T (p.Ser156Ile) c.8008G>T (n.8008G>T) c.565G>T c.7904G>T (p.Ser2635Ile) | |
| 13 | g.32363203C>A | CA387748653 | BRCA2 | c.8001C>A (p.Ser2667Arg) c.7632C>A (p.Ser2544Arg) c.468C>A (p.Ser156Arg) c.8009C>A (n.8009C>A) c.566C>A c.7905C>A (p.Ser2635Arg) | dbSNP |
| 13 | g.32363203C= | CA2082834295 | BRCA2 | c.8001C= (p.Ser2667=) c.7632C= (p.Ser2544=) c.468C= (p.Ser156=) c.8009C= (n.8009C=) c.566C= c.7905C= (p.Ser2635=) | |
| 13 | g.32363203C>G | CA387748649 | BRCA2 | c.8001C>G (p.Ser2667Arg) c.7632C>G (p.Ser2544Arg) c.468C>G (p.Ser156Arg) c.8009C>G (n.8009C>G) c.566C>G c.7905C>G (p.Ser2635Arg) | dbSNP |
| 13 | g.32363203C>T | CA025395 | BRCA2 | c.8001C>T (p.Ser2667=) c.7632C>T (p.Ser2544=) c.468C>T (p.Ser156=) c.8009C>T (n.8009C>T) c.566C>T c.7905C>T (p.Ser2635=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363203_32363206delinsCAGA | CA2082834298 | BRCA2 | c.8001_8004delinsCAGA (p.Ser2667=) c.7632_7635delinsCAGA (p.Ser2544=) c.468_471delinsCAGA (p.Ser156=) c.8009_8012delinsCAGA (n.8009_8012delinsCAGA) c.566_569delinsCAGA c.7905_7908delinsCAGA (p.Ser2635=) | |
| 13 | g.32363204A= | CA2082834322 | BRCA2 | c.8002A= (p.Arg2668=) c.7633A= (p.Arg2545=) c.469A= (p.Arg157=) c.8010A= (n.8010A=) c.567A= c.7906A= (p.Arg2636=) | |
| 13 | g.32363204A>C | CA483439450 | BRCA2 | c.8002A>C (p.Arg2668=) c.7633A>C (p.Arg2545=) c.469A>C (p.Arg157=) c.8010A>C (n.8010A>C) c.567A>C c.7906A>C (p.Arg2636=) | |
| 13 | g.32363204A>G | CA6941178 | BRCA2 | c.8002A>G (p.Arg2668Gly) c.7633A>G (p.Arg2545Gly) c.469A>G (p.Arg157Gly) c.8010A>G (n.8010A>G) c.567A>G c.7906A>G (p.Arg2636Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32363204A>T | CA025396 | BRCA2 | c.8002A>T (p.Arg2668Ter) c.7633A>T (p.Arg2545Ter) c.469A>T (p.Arg157Ter) c.8010A>T (n.8010A>T) c.567A>T c.7906A>T (p.Arg2636Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363204_32363205delinsAG | CA2082834325 | BRCA2 | c.8002_8003delinsAG (p.Arg2668=) c.7633_7634delinsAG (p.Arg2545=) c.469_470delinsAG (p.Arg157=) c.8010_8011delinsAG (n.8010_8011delinsAG) c.567_568delinsAG c.7906_7907delinsAG (p.Arg2636=) | |
| 13 | g.32363204_32363205delinsTA | CA645372929 | BRCA2 | c.8002_8003delinsTA (p.Arg2668Ter) c.7633_7634delinsTA (p.Arg2545Ter) c.469_470delinsTA (p.Arg157Ter) c.8010_8011delinsTA (n.8010_8011delinsTA) c.567_568delinsTA c.7906_7907delinsTA (p.Arg2636Ter) | ClinVar dbSNP |
| 13 | g.32363207_32363209del | CA609453898 | BRCA2 | c.8005_8007del (p.Arg2669del) c.7636_7638del (p.Arg2546del) c.472_474del (p.Arg158del) c.8013_8015del (n.8013_8015del) c.570_572del c.7909_7911del (p.Arg2637del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32363204_32363210dup | CA025399 | BRCA2 | c.8002_8008dup (p.Ser2670Ter) c.7633_7639dup (p.Ser2547Ter) c.469_475dup (p.Ser159Ter) c.8010_8016dup (n.8010_8016dup) c.567_573dup c.7906_7912dup (p.Ser2638Ter) | ClinVar dbSNP |
| 13 | g.32363205G>A | CA387748664 | BRCA2 | c.8003G>A (p.Arg2668Lys) c.7634G>A (p.Arg2545Lys) c.470G>A (p.Arg157Lys) c.8011G>A (n.8011G>A) c.568G>A c.7907G>A (p.Arg2636Lys) | dbSNP |
| 13 | g.32363205G>C | CA387748670 | BRCA2 | c.8003G>C (p.Arg2668Thr) c.7634G>C (p.Arg2545Thr) c.470G>C (p.Arg157Thr) c.8011G>C (n.8011G>C) c.568G>C c.7907G>C (p.Arg2636Thr) | dbSNP |
| 13 | g.32363205G>T | CA387748672 | BRCA2 | c.8003G>T (p.Arg2668Ile) c.7634G>T (p.Arg2545Ile) c.470G>T (p.Arg157Ile) c.8011G>T (n.8011G>T) c.568G>T c.7907G>T (p.Arg2636Ile) | |
| 13 | g.32363206A= | CA2082834334 | BRCA2 | c.8004A= (p.Arg2668=) c.7635A= (p.Arg2545=) c.471A= (p.Arg157=) c.8012A= (n.8012A=) c.569A= c.7908A= (p.Arg2636=) | |
| 13 | g.32363206A>C | CA6941179 | BRCA2 | c.8004A>C (p.Arg2668Ser) c.7635A>C (p.Arg2545Ser) c.471A>C (p.Arg157Ser) c.8012A>C (n.8012A>C) c.569A>C c.7908A>C (p.Arg2636Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32363206A>G | CA16614225 | BRCA2 | c.8004A>G (p.Arg2668=) c.7635A>G (p.Arg2545=) c.471A>G (p.Arg157=) c.8012A>G (n.8012A>G) c.569A>G c.7908A>G (p.Arg2636=) | ClinVar dbSNP |
| 13 | g.32363206A>T | CA387748686 | BRCA2 | c.8004A>T (p.Arg2668Ser) c.7635A>T (p.Arg2545Ser) c.471A>T (p.Arg157Ser) c.8012A>T (n.8012A>T) c.569A>T c.7908A>T (p.Arg2636Ser) | |
| 13 | g.32363207A>C | CA483439457 | BRCA2 | c.8005A>C (p.Arg2669=) c.7636A>C (p.Arg2546=) c.472A>C (p.Arg158=) c.8013A>C (n.8013A>C) c.570A>C c.7909A>C (p.Arg2637=) | ClinVar |
| 13 | g.32363207A>G | CA387748690 | BRCA2 | c.8005A>G (p.Arg2669Gly) c.7636A>G (p.Arg2546Gly) c.472A>G (p.Arg158Gly) c.8013A>G (n.8013A>G) c.570A>G c.7909A>G (p.Arg2637Gly) | ClinVar dbSNP |
| 13 | g.32363207A>T | CA387748693 | BRCA2 | c.8005A>T (p.Arg2669Ter) c.7636A>T (p.Arg2546Ter) c.472A>T (p.Arg158Ter) c.8013A>T (n.8013A>T) c.570A>T c.7909A>T (p.Arg2637Ter) | ClinVar dbSNP |
| 13 | g.32363207_32363230delinsAGATCGGCTATAAAAAAGATAATG | CA2082834342 | BRCA2 | c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG (p.Arg2669=) c.7636_7659delinsAGATCGGCTATAAAAAAGATAATG (p.Arg2546=) c.472_495delinsAGATCGGCTATAAAAAAGATAATG (p.Arg158=) c.8013_8036delinsAGATCGGCTATAAAAAAGATAATG (n.8013_8036delinsAGATCGGCTATAAAAAAGATAATG) c.570_593delinsAGATCGGCTATAAAAAAGATAATG c.7909_7932delinsAGATCGGCTATAAAAAAGATAATG (p.Arg2637=) | |
| 13 | g.32363208G>A | CA387748698 | BRCA2 | c.8006G>A (p.Arg2669Lys) c.7637G>A (p.Arg2546Lys) c.473G>A (p.Arg158Lys) c.8014G>A (n.8014G>A) c.571G>A c.7910G>A (p.Arg2637Lys) | dbSNP |
| 13 | g.32363208G>C | CA387748702 | BRCA2 | c.8006G>C (p.Arg2669Thr) c.7637G>C (p.Arg2546Thr) c.473G>C (p.Arg158Thr) c.8014G>C (n.8014G>C) c.571G>C c.7910G>C (p.Arg2637Thr) | dbSNP |
| 13 | g.32363208G>T | CA387748708 | BRCA2 | c.8006G>T (p.Arg2669Ile) c.7637G>T (p.Arg2546Ile) c.473G>T (p.Arg158Ile) c.8014G>T (n.8014G>T) c.571G>T c.7910G>T (p.Arg2637Ile) | ClinVar dbSNP |
| 13 | g.32363210_32363232del | CA10589463 | BRCA2 | c.8008_8030del (p.Ser2670LysfsTer3) c.7639_7661del (p.Ser2547LysfsTer3) c.475_497del (p.Ser159LysfsTer3) c.8016_8038del (n.8016_8038del) c.573_595del c.7912_7934del (p.Ser2638LysfsTer3) | ClinVar dbSNP |
| 13 | g.32363209A= | CA2082834350 | BRCA2 | c.8007A= (p.Arg2669=) c.7638A= (p.Arg2546=) c.474A= (p.Arg158=) c.8015A= (n.8015A=) c.572A= c.7911A= (p.Arg2637=) | |
| 13 | g.32363209A>C | CA387748716 | BRCA2 | c.8007A>C (p.Arg2669Ser) c.7638A>C (p.Arg2546Ser) c.474A>C (p.Arg158Ser) c.8015A>C (n.8015A>C) c.572A>C c.7911A>C (p.Arg2637Ser) | |
| 13 | g.32363209A>G | CA025397 | BRCA2 | c.8007A>G (p.Arg2669=) c.7638A>G (p.Arg2546=) c.474A>G (p.Arg158=) c.8015A>G (n.8015A>G) c.572A>G c.7911A>G (p.Arg2637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32363209A>T | CA025398 | BRCA2 | c.8007A>T (p.Arg2669Ser) c.7638A>T (p.Arg2546Ser) c.474A>T (p.Arg158Ser) c.8015A>T (n.8015A>T) c.572A>T c.7911A>T (p.Arg2637Ser) | ClinVar dbSNP |
| 13 | g.32363210T>A | CA387748730 | BRCA2 | c.8008T>A (p.Ser2670Thr) c.7639T>A (p.Ser2547Thr) c.475T>A (p.Ser159Thr) c.8016T>A (n.8016T>A) c.573T>A c.7912T>A (p.Ser2638Thr) | dbSNP |
| 13 | g.32363210T>C | CA6941180 | BRCA2 | c.8008T>C (p.Ser2670Pro) c.7639T>C (p.Ser2547Pro) c.475T>C (p.Ser159Pro) c.8016T>C (n.8016T>C) c.573T>C c.7912T>C (p.Ser2638Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |