| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355112_32355118del | CA2499222277 | BRCA2 | c.7259_7265del (p.Glu2420ValfsTer?) c.6890_6896del (p.Glu2297ValfsTer?) n.7259_7265del c.7163_7169del (p.Glu2388ValfsTer?) | |
| 13 | g.32355114C>A | CA387740550 | BRCA2 | c.7261C>A (p.Gln2421Lys) c.6892C>A (p.Gln2298Lys) n.7261C>A c.7165C>A (p.Gln2389Lys) | dbSNP |
| 13 | g.32355114C= | CA2082810323 | BRCA2 | c.7261C= (p.Gln2421=) c.6892C= (p.Gln2298=) n.7261C= c.7165C= (p.Gln2389=) | |
| 13 | g.32355114C>G | CA387740552 | BRCA2 | c.7261C>G (p.Gln2421Glu) c.6892C>G (p.Gln2298Glu) n.7261C>G c.7165C>G (p.Gln2389Glu) | dbSNP |
| 13 | g.32355114C>T | CA025004 | BRCA2 | c.7261C>T (p.Gln2421Ter) c.6892C>T (p.Gln2298Ter) n.7261C>T c.7165C>T (p.Gln2389Ter) | ClinVar dbSNP |
| 13 | g.32355115A= | CA2082810333 | BRCA2 | c.7262A= (p.Gln2421=) c.6893A= (p.Gln2298=) n.7262A= c.7166A= (p.Gln2389=) | |
| 13 | g.32355115A>C | CA387740554 | BRCA2 | c.7262A>C (p.Gln2421Pro) c.6893A>C (p.Gln2298Pro) n.7262A>C c.7166A>C (p.Gln2389Pro) | gnomAD v4 |
| 13 | g.32355115A>G | CA387740555 | BRCA2 | c.7262A>G (p.Gln2421Arg) c.6893A>G (p.Gln2298Arg) n.7262A>G c.7166A>G (p.Gln2389Arg) | ClinVar dbSNP |
| 13 | g.32355115A>T | CA387740556 | BRCA2 | c.7262A>T (p.Gln2421Leu) c.6893A>T (p.Gln2298Leu) n.7262A>T c.7166A>T (p.Gln2389Leu) | dbSNP |
| 13 | g.32355115_32355117delinsAGT | CA2082810332 | BRCA2 | c.7262_7264delinsAGT (p.Gln2421=) c.6893_6895delinsAGT (p.Gln2298=) n.7262_7264delinsAGT c.7166_7168delinsAGT (p.Gln2389=) | |
| 13 | g.32355116G>A | CA483439796 | BRCA2 | c.7263G>A (p.Gln2421=) c.6894G>A (p.Gln2298=) n.7263G>A c.7167G>A (p.Gln2389=) | ClinVar dbSNP |
| 13 | g.32355116G>C | CA387740557 | BRCA2 | c.7263G>C (p.Gln2421His) c.6894G>C (p.Gln2298His) n.7263G>C c.7167G>C (p.Gln2389His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355116G= | CA2082810350 | BRCA2 | c.7263G= (p.Gln2421=) c.6894G= (p.Gln2298=) n.7263G= c.7167G= (p.Gln2389=) | |
| 13 | g.32355116G>T | CA387740559 | BRCA2 | c.7263G>T (p.Gln2421His) c.6894G>T (p.Gln2298His) n.7263G>T c.7167G>T (p.Gln2389His) | |
| 13 | g.32355120_32355121del | CA916080533 | BRCA2 | c.7267_7268del (p.Val2423Ter) c.6898_6899del (p.Val2300Ter) n.7267_7268del c.7171_7172del (p.Val2391Ter) | ClinVar dbSNP |
| 13 | g.32355117T>A | CA387740562 | BRCA2 | c.7264T>A (p.Cys2422Ser) c.6895T>A (p.Cys2299Ser) n.7264T>A c.7168T>A (p.Cys2390Ser) | dbSNP |
| 13 | g.32355117T>C | CA387740563 | BRCA2 | c.7264T>C (p.Cys2422Arg) c.6895T>C (p.Cys2299Arg) n.7264T>C c.7168T>C (p.Cys2390Arg) | |
| 13 | g.32355117T>G | CA387740564 | BRCA2 | c.7264T>G (p.Cys2422Gly) c.6895T>G (p.Cys2299Gly) n.7264T>G c.7168T>G (p.Cys2390Gly) | |
| 13 | g.32355118G>A | CA387740565 | BRCA2 | c.7265G>A (p.Cys2422Tyr) c.6896G>A (p.Cys2299Tyr) n.7265G>A c.7169G>A (p.Cys2390Tyr) | dbSNP |
| 13 | g.32355118G>C | CA387740566 | BRCA2 | c.7265G>C (p.Cys2422Ser) c.6896G>C (p.Cys2299Ser) n.7265G>C c.7169G>C (p.Cys2390Ser) | dbSNP |
| 13 | g.32355118G>T | CA387740568 | BRCA2 | c.7265G>T (p.Cys2422Phe) c.6896G>T (p.Cys2299Phe) n.7265G>T c.7169G>T (p.Cys2390Phe) | |
| 13 | g.32355119T>A | CA025006 | BRCA2 | c.7266T>A (p.Cys2422Ter) c.6897T>A (p.Cys2299Ter) n.7266T>A c.7170T>A (p.Cys2390Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355119T>C | CA483439797 | BRCA2 | c.7266T>C (p.Cys2422=) c.6897T>C (p.Cys2299=) n.7266T>C c.7170T>C (p.Cys2390=) | |
| 13 | g.32355119T>G | CA387740571 | BRCA2 | c.7266T>G (p.Cys2422Trp) c.6897T>G (p.Cys2299Trp) n.7266T>G c.7170T>G (p.Cys2390Trp) | |
| 13 | g.32355119T= | CA2082810374 | BRCA2 | c.7266T= (p.Cys2422=) c.6897T= (p.Cys2299=) n.7266T= c.7170T= (p.Cys2390=) | |
| 13 | g.32355120G>A | CA387740572 | BRCA2 | c.7267G>A (p.Val2423Ile) c.6898G>A (p.Val2300Ile) n.7267G>A c.7171G>A (p.Val2391Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355120G>C | CA387740574 | BRCA2 | c.7267G>C (p.Val2423Leu) c.6898G>C (p.Val2300Leu) n.7267G>C c.7171G>C (p.Val2391Leu) | |
| 13 | g.32355120G= | CA2082810381 | BRCA2 | c.7267G= (p.Val2423=) c.6898G= (p.Val2300=) n.7267G= c.7171G= (p.Val2391=) | |
| 13 | g.32355120G>T | CA387740576 | BRCA2 | c.7267G>T (p.Val2423Phe) c.6898G>T (p.Val2300Phe) n.7267G>T c.7171G>T (p.Val2391Phe) | gnomAD v4 |
| 13 | g.32355121T>A | CA387740579 | BRCA2 | c.7268T>A (p.Val2423Asp) c.6899T>A (p.Val2300Asp) n.7268T>A c.7172T>A (p.Val2391Asp) | dbSNP |
| 13 | g.32355121T>C | CA387740582 | BRCA2 | c.7268T>C (p.Val2423Ala) c.6899T>C (p.Val2300Ala) n.7268T>C c.7172T>C (p.Val2391Ala) | |
| 13 | g.32355121T>G | CA387740591 | BRCA2 | c.7268T>G (p.Val2423Gly) c.6899T>G (p.Val2300Gly) n.7268T>G c.7172T>G (p.Val2391Gly) | dbSNP |
| 13 | g.32355122T>A | CA483439799 | BRCA2 | c.7269T>A (p.Val2423=) c.6900T>A (p.Val2300=) n.7269T>A c.7173T>A (p.Val2391=) | dbSNP |
| 13 | g.32355122T>C | CA247468611 | BRCA2 | c.7269T>C (p.Val2423=) c.6900T>C (p.Val2300=) n.7269T>C c.7173T>C (p.Val2391=) | ClinVar dbSNP |
| 13 | g.32355122T>G | CA483439798 | BRCA2 | c.7269T>G (p.Val2423=) c.6900T>G (p.Val2300=) n.7269T>G c.7173T>G (p.Val2391=) | |
| 13 | g.32355122T= | CA2082810397 | BRCA2 | c.7269T= (p.Val2423=) c.6900T= (p.Val2300=) n.7269T= c.7173T= (p.Val2391=) | |
| 13 | g.32355123A= | CA2082810405 | BRCA2 | c.7270A= (p.Arg2424=) c.6901A= (p.Arg2301=) n.7270A= c.7174A= (p.Arg2392=) | |
| 13 | g.32355123A>C | CA483439800 | BRCA2 | c.7270A>C (p.Arg2424=) c.6901A>C (p.Arg2301=) n.7270A>C c.7174A>C (p.Arg2392=) | ClinVar dbSNP |
| 13 | g.32355123A>G | CA025008 | BRCA2 | c.7270A>G (p.Arg2424Gly) c.6901A>G (p.Arg2301Gly) n.7270A>G c.7174A>G (p.Arg2392Gly) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355123A>T | CA387740596 | BRCA2 | c.7270A>T (p.Arg2424Trp) c.6901A>T (p.Arg2301Trp) n.7270A>T c.7174A>T (p.Arg2392Trp) | dbSNP |
| 13 | g.32355123dup | CA1139663172 | BRCA2 | c.7270dup (p.Arg2424LysfsTer4) c.6901dup (p.Arg2301LysfsTer4) n.7270dup c.7174dup (p.Arg2392LysfsTer4) | ClinVar dbSNP |
| 13 | g.32355124G>A | CA387740597 | BRCA2 | c.7271G>A (p.Arg2424Lys) c.6902G>A (p.Arg2301Lys) n.7271G>A c.7175G>A (p.Arg2392Lys) | ClinVar dbSNP |
| 13 | g.32355124G>C | CA6941076 | BRCA2 | c.7271G>C (p.Arg2424Thr) c.6902G>C (p.Arg2301Thr) n.7271G>C c.7175G>C (p.Arg2392Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355124G= | CA2082810415 | BRCA2 | c.7271G= (p.Arg2424=) c.6902G= (p.Arg2301=) n.7271G= c.7175G= (p.Arg2392=) | |
| 13 | g.32355124G>T | CA387740611 | BRCA2 | c.7271G>T (p.Arg2424Met) c.6902G>T (p.Arg2301Met) n.7271G>T c.7175G>T (p.Arg2392Met) | dbSNP |
| 13 | g.32355125G>A | CA483439801 | BRCA2 | c.7272G>A (p.Arg2424=) c.6903G>A (p.Arg2301=) n.7272G>A c.7176G>A (p.Arg2392=) | ClinVar dbSNP |
| 13 | g.32355125G>C | CA387740613 | BRCA2 | c.7272G>C (p.Arg2424Ser) c.6903G>C (p.Arg2301Ser) n.7272G>C c.7176G>C (p.Arg2392Ser) | ClinVar dbSNP |
| 13 | g.32355125G= | CA2082810443 | BRCA2 | c.7272G= (p.Arg2424=) c.6903G= (p.Arg2301=) n.7272G= c.7176G= (p.Arg2392=) | |
| 13 | g.32355125G>T | CA387740616 | BRCA2 | c.7272G>T (p.Arg2424Ser) c.6903G>T (p.Arg2301Ser) n.7272G>T c.7176G>T (p.Arg2392Ser) | dbSNP |