Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
13 | g.32356478_32356499dup | CA2580087467 | BRCA2 | c.7486_7507dup (p.Val2503GlufsTer?) c.7117_7138dup (p.Val2380GlufsTer?) c.51_72dup n.7486_7507dup c.7390_7411dup (p.Val2471GlufsTer?) | ClinVar |
13 | g.32356487_32356488del | CA2697551777 | BRCA2 | c.7495_7496del (p.Gln2499LysfsTer?) c.7126_7127del (p.Gln2376LysfsTer?) c.60_61del n.7495_7496del c.7399_7400del (p.Gln2467LysfsTer?) | ClinVar |
13 | g.32356487_32356488delinsCA | CA2082814464 | BRCA2 | c.7495_7496delinsCA (p.Gln2499=) c.7126_7127delinsCA (p.Gln2376=) c.60_61delinsCA n.7495_7496delinsCA c.7399_7400delinsCA (p.Gln2467=) | |
13 | g.32356488A>C | CA387743382 | BRCA2 | c.7496A>C (p.Gln2499Pro) c.7127A>C (p.Gln2376Pro) c.61A>C n.7496A>C c.7400A>C (p.Gln2467Pro) | |
13 | g.32356488A>G | CA387743383 | BRCA2 | c.7496A>G (p.Gln2499Arg) c.7127A>G (p.Gln2376Arg) c.61A>G n.7496A>G c.7400A>G (p.Gln2467Arg) | |
13 | g.32356488A>T | CA387743384 | BRCA2 | c.7496A>T (p.Gln2499Leu) c.7127A>T (p.Gln2376Leu) c.61A>T n.7496A>T c.7400A>T (p.Gln2467Leu) | dbSNP |
13 | g.32356490del | CA919242752 | BRCA2 | c.7498del (p.Arg2500GlyfsTer24) c.7129del (p.Arg2377GlyfsTer24) c.63del n.7498del c.7402del (p.Arg2468GlyfsTer24) | dbSNP |
13 | g.32356489A= | CA2082814478 | BRCA2 | c.7497A= (p.Gln2499=) c.7128A= (p.Gln2376=) c.62A= n.7497A= c.7401A= (p.Gln2467=) | |
13 | g.32356489A>C | CA387743386 | BRCA2 | c.7497A>C (p.Gln2499His) c.7128A>C (p.Gln2376His) c.62A>C n.7497A>C c.7401A>C (p.Gln2467His) | |
13 | g.32356489A>G | CA483260379 | BRCA2 | c.7497A>G (p.Gln2499=) c.7128A>G (p.Gln2376=) c.62A>G n.7497A>G c.7401A>G (p.Gln2467=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356489A>T | CA387743387 | BRCA2 | c.7497A>T (p.Gln2499His) c.7128A>T (p.Gln2376His) c.62A>T n.7497A>T c.7401A>T (p.Gln2467His) | dbSNP |
13 | g.32356490A>C | CA483260380 | BRCA2 | c.7498A>C (p.Arg2500=) c.7129A>C (p.Arg2377=) c.63A>C n.7498A>C c.7402A>C (p.Arg2468=) | |
13 | g.32356490A>G | CA387743389 | BRCA2 | c.7498A>G (p.Arg2500Gly) c.7129A>G (p.Arg2377Gly) c.63A>G n.7498A>G c.7402A>G (p.Arg2468Gly) | dbSNP |
13 | g.32356490A>T | CA387743391 | BRCA2 | c.7498A>T (p.Arg2500Trp) c.7129A>T (p.Arg2377Trp) c.63A>T n.7498A>T c.7402A>T (p.Arg2468Trp) | dbSNP |
13 | g.32356490_32356491delinsAG | CA2082814482 | BRCA2 | c.7498_7499delinsAG (p.Arg2500=) c.7129_7130delinsAG (p.Arg2377=) c.63_64delinsAG n.7498_7499delinsAG c.7402_7403delinsAG (p.Arg2468=) | |
13 | g.32356491G>A | CA025118 | BRCA2 | c.7499G>A (p.Arg2500Lys) c.7130G>A (p.Arg2377Lys) c.64G>A n.7499G>A c.7403G>A (p.Arg2468Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32356491G>C | CA025119 | BRCA2 | c.7499G>C (p.Arg2500Thr) c.7130G>C (p.Arg2377Thr) c.64G>C n.7499G>C c.7403G>C (p.Arg2468Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356491G= | CA2082814490 | BRCA2 | c.7499G= (p.Arg2500=) c.7130G= (p.Arg2377=) c.64G= n.7499G= c.7403G= (p.Arg2468=) | |
13 | g.32356491G>T | CA387743393 | BRCA2 | c.7499G>T (p.Arg2500Met) c.7130G>T (p.Arg2377Met) c.64G>T n.7499G>T c.7403G>T (p.Arg2468Met) | dbSNP |
13 | g.32356492del | CA913188525 | BRCA2 | c.7500del (p.Arg2500SerfsTer24) c.7131del (p.Arg2377SerfsTer24) c.65del n.7500del c.7404del (p.Arg2468SerfsTer24) | ClinVar dbSNP |
13 | g.32356492G>A | CA483260381 | BRCA2 | c.7500G>A (p.Arg2500=) c.7131G>A (p.Arg2377=) c.65G>A n.7500G>A c.7404G>A (p.Arg2468=) | ClinVar dbSNP |
13 | g.32356492G>C | CA387743402 | BRCA2 | c.7500G>C (p.Arg2500Ser) c.7131G>C (p.Arg2377Ser) c.65G>C n.7500G>C c.7404G>C (p.Arg2468Ser) | ClinVar dbSNP |
13 | g.32356492G= | CA2082814496 | BRCA2 | c.7500G= (p.Arg2500=) c.7131G= (p.Arg2377=) c.65G= n.7500G= c.7404G= (p.Arg2468=) | |
13 | g.32356492G>T | CA387743403 | BRCA2 | c.7500G>T (p.Arg2500Ser) c.7131G>T (p.Arg2377Ser) c.65G>T n.7500G>T c.7404G>T (p.Arg2468Ser) | |
13 | g.32356492_32356493del | CA2695199716 | BRCA2 | c.7500_7501del (p.Gln2501ThrfsTer?) c.7131_7132del (p.Gln2378ThrfsTer?) c.65_66del n.7500_7501del c.7404_7405del (p.Gln2469ThrfsTer?) | ClinVar |
13 | g.32356493C>A | CA387743406 | BRCA2 | c.7501C>A (p.Gln2501Lys) c.7132C>A (p.Gln2378Lys) c.66C>A n.7501C>A c.7405C>A (p.Gln2469Lys) | dbSNP |
13 | g.32356493C= | CA2082814507 | BRCA2 | c.7501C= (p.Gln2501=) c.7132C= (p.Gln2378=) c.66C= n.7501C= c.7405C= (p.Gln2469=) | |
13 | g.32356493C>G | CA387743408 | BRCA2 | c.7501C>G (p.Gln2501Glu) c.7132C>G (p.Gln2378Glu) c.66C>G n.7501C>G c.7405C>G (p.Gln2469Glu) | dbSNP |
13 | g.32356493C>T | CA10589432 | BRCA2 | c.7501C>T (p.Gln2501Ter) c.7132C>T (p.Gln2378Ter) c.66C>T n.7501C>T c.7405C>T (p.Gln2469Ter) | ClinVar dbSNP |
13 | g.32356494A= | CA2082814513 | BRCA2 | c.7502A= (p.Gln2501=) c.7133A= (p.Gln2378=) c.67A= n.7502A= c.7406A= (p.Gln2469=) | |
13 | g.32356494A>C | CA387743419 | BRCA2 | c.7502A>C (p.Gln2501Pro) c.7133A>C (p.Gln2378Pro) c.67A>C n.7502A>C c.7406A>C (p.Gln2469Pro) | |
13 | g.32356494A>G | CA387743415 | BRCA2 | c.7502A>G (p.Gln2501Arg) c.7133A>G (p.Gln2378Arg) c.67A>G n.7502A>G c.7406A>G (p.Gln2469Arg) | ClinVar dbSNP |
13 | g.32356494A>T | CA387743411 | BRCA2 | c.7502A>T (p.Gln2501Leu) c.7133A>T (p.Gln2378Leu) c.67A>T n.7502A>T c.7406A>T (p.Gln2469Leu) | |
13 | g.32356494_32356498delinsAACGC | CA2082814511 | BRCA2 | c.7502_7506delinsAACGC (p.Gln2501=) c.7133_7137delinsAACGC (p.Gln2378=) c.67_71delinsAACGC n.7502_7506delinsAACGC c.7406_7410delinsAACGC (p.Gln2469=) | |
13 | g.32356495A= | CA2082814521 | BRCA2 | c.7503A= (p.Gln2501=) c.7134A= (p.Gln2378=) c.68A= n.7503A= c.7407A= (p.Gln2469=) | |
13 | g.32356495A>C | CA387743422 | BRCA2 | c.7503A>C (p.Gln2501His) c.7134A>C (p.Gln2378His) c.68A>C n.7503A>C c.7407A>C (p.Gln2469His) | dbSNP |
13 | g.32356495A>G | CA16606811 | BRCA2 | c.7503A>G (p.Gln2501=) c.7134A>G (p.Gln2378=) c.68A>G n.7503A>G c.7407A>G (p.Gln2469=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356495A>T | CA387743424 | BRCA2 | c.7503A>T (p.Gln2501His) c.7134A>T (p.Gln2378His) c.68A>T n.7503A>T c.7407A>T (p.Gln2469His) | dbSNP gnomAD v4 |
13 | g.32356495_32356498del | CA10589433 | BRCA2 | c.7503_7506del (p.Arg2502SerfsTer21) c.7134_7137del (p.Arg2379SerfsTer21) c.68_71del n.7503_7506del c.7407_7410del (p.Arg2470SerfsTer21) | ClinVar dbSNP |
13 | g.32356495_32356503delinsACGCGTCTT | CA2082814528 | BRCA2 | c.7503_7511delinsACGCGTCTT (p.Gln2501=) c.7134_7142delinsACGCGTCTT (p.Gln2378=) c.68_76delinsACGCGTCTT n.7503_7511delinsACGCGTCTT c.7407_7415delinsACGCGTCTT (p.Gln2469=) | |
13 | g.32356496C>A | CA387743431 | BRCA2 | c.7504C>A (p.Arg2502Ser) c.7135C>A (p.Arg2379Ser) c.69C>A n.7504C>A c.7408C>A (p.Arg2470Ser) | ClinVar dbSNP |
13 | g.32356496C= | CA2082814548 | BRCA2 | c.7504C= (p.Arg2502=) c.7135C= (p.Arg2379=) c.69C= n.7504C= c.7408C= (p.Arg2470=) | |
13 | g.32356496C>G | CA387743435 | BRCA2 | c.7504C>G (p.Arg2502Gly) c.7135C>G (p.Arg2379Gly) c.69C>G n.7504C>G c.7408C>G (p.Arg2470Gly) | dbSNP |
13 | g.32356496C>T | CA025120 | BRCA2 | c.7504C>T (p.Arg2502Cys) c.7135C>T (p.Arg2379Cys) c.69C>T n.7504C>T c.7408C>T (p.Arg2470Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356496_32356503del | CA658683850 | BRCA2 | c.7504_7511del (p.Arg2502SerfsTer?) c.7135_7142del (p.Arg2379SerfsTer?) c.69_76del n.7504_7511del c.7408_7415del (p.Arg2470SerfsTer?) | ClinVar dbSNP |
13 | g.32356497G>A | CA025121 | BRCA2 | c.7505G>A (p.Arg2502His) c.7136G>A (p.Arg2379His) c.70G>A n.7505G>A c.7409G>A (p.Arg2470His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356497G>C | CA025122 | BRCA2 | c.7505G>C (p.Arg2502Pro) c.7136G>C (p.Arg2379Pro) c.70G>C n.7505G>C c.7409G>C (p.Arg2470Pro) | ClinVar dbSNP |
13 | g.32356497G= | CA2082814563 | BRCA2 | c.7505G= (p.Arg2502=) c.7136G= (p.Arg2379=) c.70G= n.7505G= c.7409G= (p.Arg2470=) | |
13 | g.32356497G>T | CA10579740 | BRCA2 | c.7505G>T (p.Arg2502Leu) c.7136G>T (p.Arg2379Leu) c.70G>T n.7505G>T c.7409G>T (p.Arg2470Leu) | ClinVar dbSNP |