UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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 |
| 13 | g.32356497dup | CA2695217910 | BRCA2 | c.7505dup (p.Val2503ArgfsTer?) c.7136dup (p.Val2380ArgfsTer?) c.70dup n.7505dup c.7409dup (p.Val2471ArgfsTer?) | |
| 13 | g.32356498del | CA2499222293 | BRCA2 | c.7506del (p.Val2503SerfsTer21) c.7137del (p.Val2380SerfsTer21) c.71del n.7506del c.7410del (p.Val2471SerfsTer21) | |
| 13 | g.32356498C>A | CA483260382 | BRCA2 | c.7506C>A (p.Arg2502=) c.7137C>A (p.Arg2379=) c.71C>A n.7506C>A c.7410C>A (p.Arg2470=) | ClinVar dbSNP |
| 13 | g.32356498C= | CA2082814579 | BRCA2 | c.7506C= (p.Arg2502=) c.7137C= (p.Arg2379=) c.71C= n.7506C= c.7410C= (p.Arg2470=) | |
| 13 | g.32356498C>G | CA10579741 | BRCA2 | c.7506C>G (p.Arg2502=) c.7137C>G (p.Arg2379=) c.71C>G n.7506C>G c.7410C>G (p.Arg2470=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356498C>T | CA025123 | BRCA2 | c.7506C>T (p.Arg2502=) c.7137C>T (p.Arg2379=) c.71C>T n.7506C>T c.7410C>T (p.Arg2470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356498dup | CA2499222292 | BRCA2 | c.7506dup (p.Val2503ArgfsTer?) c.7137dup (p.Val2380ArgfsTer?) c.71dup n.7506dup c.7410dup (p.Val2471ArgfsTer?) | |
| 13 | g.32356498_32356499insTCTT | CA2573053822 | BRCA2 | c.7506_7507insTCTT (p.Val2503SerfsTer?) c.7137_7138insTCTT (p.Val2380SerfsTer?) c.71_72insTCTT n.7506_7507insTCTT c.7410_7411insTCTT (p.Val2471SerfsTer?) | ClinVar dbSNP |
| 13 | g.32356499G>A | CA025124 | BRCA2 | c.7507G>A (p.Val2503Ile) c.7138G>A (p.Val2380Ile) c.72G>A n.7507G>A c.7411G>A (p.Val2471Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356499G>C | CA387743445 | BRCA2 | c.7507G>C (p.Val2503Leu) c.7138G>C (p.Val2380Leu) c.72G>C n.7507G>C c.7411G>C (p.Val2471Leu) | dbSNP |
| 13 | g.32356499G= | CA2082814586 | BRCA2 | c.7507G= (p.Val2503=) c.7138G= (p.Val2380=) c.72G= n.7507G= c.7411G= (p.Val2471=) | |
| 13 | g.32356499G>T | CA387743447 | BRCA2 | c.7507G>T (p.Val2503Phe) c.7138G>T (p.Val2380Phe) c.72G>T n.7507G>T c.7411G>T (p.Val2471Phe) | COSMIC COSMIC |
| 13 | g.32356499_32356513delinsGTCTTTCCACAGCCA | CA2082814587 | BRCA2 | c.7507_7521delinsGTCTTTCCACAGCCA (p.Val2503=) c.7138_7152delinsGTCTTTCCACAGCCA (p.Val2380=) c.72_86delinsGTCTTTCCACAGCCA n.7507_7521delinsGTCTTTCCACAGCCA c.7411_7425delinsGTCTTTCCACAGCCA (p.Val2471=) | |
| 13 | g.32356500T>A | CA025125 | BRCA2 | c.7508T>A (p.Val2503Asp) c.7139T>A (p.Val2380Asp) c.73T>A n.7508T>A c.7412T>A (p.Val2471Asp) | ClinVar dbSNP |
| 13 | g.32356500T>C | CA387743450 | BRCA2 | c.7508T>C (p.Val2503Ala) c.7139T>C (p.Val2380Ala) c.73T>C n.7508T>C c.7412T>C (p.Val2471Ala) | dbSNP |
| 13 | g.32356500T>G | CA387743453 | BRCA2 | c.7508T>G (p.Val2503Gly) c.7139T>G (p.Val2380Gly) c.73T>G n.7508T>G c.7412T>G (p.Val2471Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356500T= | CA2082814604 | BRCA2 | c.7508T= (p.Val2503=) c.7139T= (p.Val2380=) c.73T= n.7508T= c.7412T= (p.Val2471=) | |
| 13 | g.32356502_32356505dup | CA891844184 | BRCA2 | c.7510_7513dup (p.Pro2505LeufsTer?) c.7141_7144dup (p.Pro2382LeufsTer?) c.75_78dup n.7510_7513dup c.7414_7417dup (p.Pro2473LeufsTer?) | ClinVar dbSNP |
| 13 | g.32356500_32356513delinsG | CA10585934 | BRCA2 | c.7508_7521delinsG (p.Val2503GlyfsTer17) c.7139_7152delinsG (p.Val2380GlyfsTer17) c.73_86delinsG n.7508_7521delinsG c.7412_7425delinsG (p.Val2471GlyfsTer17) | ClinVar dbSNP |
| 13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356501C>A | CA483260383 | BRCA2 | c.7509C>A (p.Val2503=) c.7140C>A (p.Val2380=) c.74C>A n.7509C>A c.7413C>A (p.Val2471=) | |
| 13 | g.32356501C= | CA2082814626 | BRCA2 | c.7509C= (p.Val2503=) c.7140C= (p.Val2380=) c.74C= n.7509C= c.7413C= (p.Val2471=) | |
| 13 | g.32356501C>G | CA025126 | BRCA2 | c.7509C>G (p.Val2503=) c.7140C>G (p.Val2380=) c.74C>G n.7509C>G c.7413C>G (p.Val2471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356501C>T | CA10575927 | BRCA2 | c.7509C>T (p.Val2503=) c.7140C>T (p.Val2380=) c.74C>T n.7509C>T c.7413C>T (p.Val2471=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356502T>A | CA387743465 | BRCA2 | c.7510T>A (p.Phe2504Ile) c.7141T>A (p.Phe2381Ile) c.75T>A n.7510T>A c.7414T>A (p.Phe2472Ile) | dbSNP |
| 13 | g.32356502T>C | CA387743463 | BRCA2 | c.7510T>C (p.Phe2504Leu) c.7141T>C (p.Phe2381Leu) c.75T>C n.7510T>C c.7414T>C (p.Phe2472Leu) | |
| 13 | g.32356502T>G | CA387743460 | BRCA2 | c.7510T>G (p.Phe2504Val) c.7141T>G (p.Phe2381Val) c.75T>G n.7510T>G c.7414T>G (p.Phe2472Val) | ClinVar dbSNP |
| 13 | g.32356502T= | CA2082814636 | BRCA2 | c.7510T= (p.Phe2504=) c.7141T= (p.Phe2381=) c.75T= n.7510T= c.7414T= (p.Phe2472=) | |
| 13 | g.32356503T>A | CA387743471 | BRCA2 | c.7511T>A (p.Phe2504Tyr) c.7142T>A (p.Phe2381Tyr) c.76T>A n.7511T>A c.7415T>A (p.Phe2472Tyr) | |
| 13 | g.32356503T>C | CA387743469 | BRCA2 | c.7511T>C (p.Phe2504Ser) c.7142T>C (p.Phe2381Ser) c.76T>C n.7511T>C c.7415T>C (p.Phe2472Ser) | |
| 13 | g.32356503T>G | CA387743473 | BRCA2 | c.7511T>G (p.Phe2504Cys) c.7142T>G (p.Phe2381Cys) c.76T>G n.7511T>G c.7415T>G (p.Phe2472Cys) | |
| 13 | g.32356504T>A | CA387743477 | BRCA2 | c.7512T>A (p.Phe2504Leu) c.7143T>A (p.Phe2381Leu) c.77T>A n.7512T>A c.7416T>A (p.Phe2472Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356504T>C | CA483260384 | BRCA2 | c.7512T>C (p.Phe2504=) c.7143T>C (p.Phe2381=) c.77T>C n.7512T>C c.7416T>C (p.Phe2472=) | |
| 13 | g.32356504T>G | CA025128 | BRCA2 | c.7512T>G (p.Phe2504Leu) c.7143T>G (p.Phe2381Leu) c.77T>G n.7512T>G c.7416T>G (p.Phe2472Leu) | ClinVar dbSNP |
| 13 | g.32356504T= | CA2082814642 | BRCA2 | c.7512T= (p.Phe2504=) c.7143T= (p.Phe2381=) c.77T= n.7512T= c.7416T= (p.Phe2472=) | |
| 13 | g.32356505C>A | CA387743488 | BRCA2 | c.7513C>A (p.Pro2505Thr) c.7144C>A (p.Pro2382Thr) c.78C>A n.7513C>A c.7417C>A (p.Pro2473Thr) | dbSNP |
| 13 | g.32356505C>G | CA387743491 | BRCA2 | c.7513C>G (p.Pro2505Ala) c.7144C>G (p.Pro2382Ala) c.78C>G n.7513C>G c.7417C>G (p.Pro2473Ala) | ClinVar dbSNP |
| 13 | g.32356505C>T | CA387743494 | BRCA2 | c.7513C>T (p.Pro2505Ser) c.7144C>T (p.Pro2382Ser) c.78C>T n.7513C>T c.7417C>T (p.Pro2473Ser) | ClinVar dbSNP |
| 13 | g.32356506C>A | CA387743495 | BRCA2 | c.7514C>A (p.Pro2505Gln) c.7145C>A (p.Pro2382Gln) c.79C>A n.7514C>A c.7418C>A (p.Pro2473Gln) | ClinVar |
| 13 | g.32356506C= | CA2082814644 | BRCA2 | c.7514C= (p.Pro2505=) c.7145C= (p.Pro2382=) c.79C= n.7514C= c.7418C= (p.Pro2473=) | |
| 13 | g.32356506C>G | CA387743498 | BRCA2 | c.7514C>G (p.Pro2505Arg) c.7145C>G (p.Pro2382Arg) c.79C>G n.7514C>G c.7418C>G (p.Pro2473Arg) | dbSNP |
| 13 | g.32356506C>T | CA247469878 | BRCA2 | c.7514C>T (p.Pro2505Leu) c.7145C>T (p.Pro2382Leu) c.79C>T n.7514C>T c.7418C>T (p.Pro2473Leu) | ClinVar dbSNP |
| 13 | g.32356507A= | CA2082814650 | BRCA2 | c.7515A= (p.Pro2505=) c.7146A= (p.Pro2382=) c.80A= n.7515A= c.7419A= (p.Pro2473=) | |
| 13 | g.32356507A>C | CA483260385 | BRCA2 | c.7515A>C (p.Pro2505=) c.7146A>C (p.Pro2382=) c.80A>C n.7515A>C c.7419A>C (p.Pro2473=) | dbSNP |
| 13 | g.32356507A>G | CA247469887 | BRCA2 | c.7515A>G (p.Pro2505=) c.7146A>G (p.Pro2382=) c.80A>G n.7515A>G c.7419A>G (p.Pro2473=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356507A>T | CA483260386 | BRCA2 | c.7515A>T (p.Pro2505=) c.7146A>T (p.Pro2382=) c.80A>T n.7515A>T c.7419A>T (p.Pro2473=) | dbSNP |
| 13 | g.32356508C>A | CA387743502 | BRCA2 | c.7516C>A (p.Gln2506Lys) c.7147C>A (p.Gln2383Lys) c.81C>A n.7516C>A c.7420C>A (p.Gln2474Lys) | |
| 13 | g.32356508C= | CA2082814658 | BRCA2 | c.7516C= (p.Gln2506=) c.7147C= (p.Gln2383=) c.81C= n.7516C= c.7420C= (p.Gln2474=) | |
| 13 | g.32356508C>G | CA387743504 | BRCA2 | c.7516C>G (p.Gln2506Glu) c.7147C>G (p.Gln2383Glu) c.81C>G n.7516C>G c.7420C>G (p.Gln2474Glu) | ClinVar dbSNP |
| 13 | g.32356508C>T | CA10579742 | BRCA2 | c.7516C>T (p.Gln2506Ter) c.7147C>T (p.Gln2383Ter) c.81C>T n.7516C>T c.7420C>T (p.Gln2474Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356509A>C | CA387743513 | BRCA2 | c.7517A>C (p.Gln2506Pro) c.7148A>C (p.Gln2383Pro) c.82A>C n.7517A>C c.7421A>C (p.Gln2474Pro) | |
| 13 | g.32356509A>G | CA387743511 | BRCA2 | c.7517A>G (p.Gln2506Arg) c.7148A>G (p.Gln2383Arg) c.82A>G n.7517A>G c.7421A>G (p.Gln2474Arg) | ClinVar dbSNP |
| 13 | g.32356509A>T | CA387743508 | BRCA2 | c.7517A>T (p.Gln2506Leu) c.7148A>T (p.Gln2383Leu) c.82A>T n.7517A>T c.7421A>T (p.Gln2474Leu) | dbSNP |
| 13 | g.32356509dup | CA10589434 | BRCA2 | c.7517dup (p.Pro2507AlafsTer?) c.7148dup (p.Pro2384AlafsTer?) c.82dup n.7517dup c.7421dup (p.Pro2475AlafsTer?) | ClinVar dbSNP |
| 13 | g.32356509_32356510delinsAG | CA2082814675 | BRCA2 | c.7517_7518delinsAG (p.Gln2506=) c.7148_7149delinsAG (p.Gln2383=) c.82_83delinsAG n.7517_7518delinsAG c.7421_7422delinsAG (p.Gln2474=) | |
| 13 | g.32356510del | CA10589435 | BRCA2 | c.7518del (p.Gln2506HisfsTer18) c.7149del (p.Gln2383HisfsTer18) c.83del n.7518del c.7422del (p.Gln2474HisfsTer18) | ClinVar dbSNP |
| 13 | g.32356510G>A | CA483260387 | BRCA2 | c.7518G>A (p.Gln2506=) c.7149G>A (p.Gln2383=) c.83G>A n.7518G>A c.7422G>A (p.Gln2474=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356510G>C | CA387743517 | BRCA2 | c.7518G>C (p.Gln2506His) c.7149G>C (p.Gln2383His) c.83G>C n.7518G>C c.7422G>C (p.Gln2474His) | dbSNP |
| 13 | g.32356510G= | CA2082814689 | BRCA2 | c.7518G= (p.Gln2506=) c.7149G= (p.Gln2383=) c.83G= n.7518G= c.7422G= (p.Gln2474=) | |
| 13 | g.32356510G>T | CA6941105 | BRCA2 | c.7518G>T (p.Gln2506His) c.7149G>T (p.Gln2383His) c.83G>T n.7518G>T c.7422G>T (p.Gln2474His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356511C>A | CA387743522 | BRCA2 | c.7519C>A (p.Pro2507Thr) c.7150C>A (p.Pro2384Thr) c.84C>A n.7519C>A c.7423C>A (p.Pro2475Thr) | dbSNP |
| 13 | g.32356511C= | CA2082814713 | BRCA2 | c.7519C= (p.Pro2507=) c.7150C= (p.Pro2384=) c.84C= n.7519C= c.7423C= (p.Pro2475=) | |
| 13 | g.32356511C>G | CA10579743 | BRCA2 | c.7519C>G (p.Pro2507Ala) c.7150C>G (p.Pro2384Ala) c.84C>G n.7519C>G c.7423C>G (p.Pro2475Ala) | ClinVar dbSNP |
| 13 | g.32356511C>T | CA387743524 | BRCA2 | c.7519C>T (p.Pro2507Ser) c.7150C>T (p.Pro2384Ser) c.84C>T n.7519C>T c.7423C>T (p.Pro2475Ser) | dbSNP |
| 13 | g.32356512C>A | CA387743526 | BRCA2 | c.7520C>A (p.Pro2507Gln) c.7151C>A (p.Pro2384Gln) c.85C>A n.7520C>A c.7424C>A (p.Pro2475Gln) | gnomAD v4 |
| 13 | g.32356512C= | CA2082814719 | BRCA2 | c.7520C= (p.Pro2507=) c.7151C= (p.Pro2384=) c.85C= n.7520C= c.7424C= (p.Pro2475=) | |
| 13 | g.32356512C>G | CA387743528 | BRCA2 | c.7520C>G (p.Pro2507Arg) c.7151C>G (p.Pro2384Arg) c.85C>G n.7520C>G c.7424C>G (p.Pro2475Arg) | dbSNP |
| 13 | g.32356512C>T | CA10579744 | BRCA2 | c.7520C>T (p.Pro2507Leu) c.7151C>T (p.Pro2384Leu) c.85C>T n.7520C>T c.7424C>T (p.Pro2475Leu) | ClinVar dbSNP |
| 13 | g.32356513A= | CA2082814727 | BRCA2 | c.7521A= (p.Pro2507=) c.7152A= (p.Pro2384=) c.86A= n.7521A= c.7425A= (p.Pro2475=) | |
| 13 | g.32356513A>C | CA483260388 | BRCA2 | c.7521A>C (p.Pro2507=) c.7152A>C (p.Pro2384=) c.86A>C n.7521A>C c.7425A>C (p.Pro2475=) | ClinVar |
| 13 | g.32356513A>G | CA025129 | BRCA2 | c.7521A>G (p.Pro2507=) c.7152A>G (p.Pro2384=) c.86A>G n.7521A>G c.7425A>G (p.Pro2475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356513A>T | CA483260389 | BRCA2 | c.7521A>T (p.Pro2507=) c.7152A>T (p.Pro2384=) c.86A>T n.7521A>T c.7425A>T (p.Pro2475=) | ClinVar dbSNP |
| 13 | g.32356514G>A | CA025130 | BRCA2 | c.7522G>A (p.Gly2508Ser) c.7153G>A (p.Gly2385Ser) c.87G>A n.7522G>A c.7426G>A (p.Gly2476Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356514G>C | CA387743535 | BRCA2 | c.7522G>C (p.Gly2508Arg) c.7153G>C (p.Gly2385Arg) c.87G>C n.7522G>C c.7426G>C (p.Gly2476Arg) | ClinVar dbSNP |
| 13 | g.32356514G= | CA2082814733 | BRCA2 | c.7522G= (p.Gly2508=) c.7153G= (p.Gly2385=) c.87G= n.7522G= c.7426G= (p.Gly2476=) | |
| 13 | g.32356514G>T | CA387743536 | BRCA2 | c.7522G>T (p.Gly2508Cys) c.7153G>T (p.Gly2385Cys) c.87G>T n.7522G>T c.7426G>T (p.Gly2476Cys) | dbSNP |
| 13 | g.32356515G>A | CA025131 | BRCA2 | c.7523G>A (p.Gly2508Asp) c.7154G>A (p.Gly2385Asp) c.88G>A n.7523G>A c.7427G>A (p.Gly2476Asp) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356515G>C | CA387743543 | BRCA2 | c.7523G>C (p.Gly2508Ala) c.7154G>C (p.Gly2385Ala) c.88G>C n.7523G>C c.7427G>C (p.Gly2476Ala) | dbSNP |
| 13 | g.32356515G= | CA2082814748 | BRCA2 | c.7523G= (p.Gly2508=) c.7154G= (p.Gly2385=) c.88G= n.7523G= c.7427G= (p.Gly2476=) | |
| 13 | g.32356515G>T | CA387743540 | BRCA2 | c.7523G>T (p.Gly2508Val) c.7154G>T (p.Gly2385Val) c.88G>T n.7523G>T c.7427G>T (p.Gly2476Val) | |
| 13 | g.32356516C>A | CA483260390 | BRCA2 | c.7524C>A (p.Gly2508=) c.7155C>A (p.Gly2385=) c.89C>A n.7524C>A c.7428C>A (p.Gly2476=) | ClinVar dbSNP |
| 13 | g.32356516C= | CA2082814757 | BRCA2 | c.7524C= (p.Gly2508=) c.7155C= (p.Gly2385=) c.89C= n.7524C= c.7428C= (p.Gly2476=) | |
| 13 | g.32356516C>G | CA483260391 | BRCA2 | c.7524C>G (p.Gly2508=) c.7155C>G (p.Gly2385=) c.89C>G n.7524C>G c.7428C>G (p.Gly2476=) | dbSNP |
| 13 | g.32356516C>T | CA483260392 | BRCA2 | c.7524C>T (p.Gly2508=) c.7155C>T (p.Gly2385=) c.89C>T n.7524C>T c.7428C>T (p.Gly2476=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356516_32356517insT | CA658823747 | BRCA2 | c.7524_7525insT (p.Ser2509Ter) c.7155_7156insT (p.Ser2386Ter) c.89_90insT n.7524_7525insT c.7428_7429insT (p.Ser2477Ter) | ClinVar dbSNP |
| 13 | g.32356517A= | CA2082814803 | BRCA2 | c.7525A= (p.Ser2509=) c.7156A= (p.Ser2386=) c.90A= n.7525A= c.7429A= (p.Ser2477=) | |
| 13 | g.32356517A>C | CA387743558 | BRCA2 | c.7525A>C (p.Ser2509Arg) c.7156A>C (p.Ser2386Arg) c.90A>C n.7525A>C c.7429A>C (p.Ser2477Arg) | ClinVar dbSNP |
| 13 | g.32356517A>G | CA387743547 | BRCA2 | c.7525A>G (p.Ser2509Gly) c.7156A>G (p.Ser2386Gly) c.90A>G n.7525A>G c.7429A>G (p.Ser2477Gly) | ClinVar dbSNP |
| 13 | g.32356517A>T | CA387743550 | BRCA2 | c.7525A>T (p.Ser2509Cys) c.7156A>T (p.Ser2386Cys) c.90A>T n.7525A>T c.7429A>T (p.Ser2477Cys) | dbSNP |
| 13 | g.32356517dup | CA025132 | BRCA2 | c.7525dup (p.Ser2509LysfsTer30) c.7156dup (p.Ser2386LysfsTer30) c.90dup n.7525dup c.7429dup (p.Ser2477LysfsTer30) | ClinVar dbSNP |
| 13 | g.32356517_32356518delinsGACT | CA2695199685 | BRCA2 | c.7525_7526delinsGACT (p.Ser2509AspfsTer16) c.7156_7157delinsGACT (p.Ser2386AspfsTer16) c.90_91delinsGACT n.7525_7526delinsGACT c.7429_7430delinsGACT (p.Ser2477AspfsTer16) | ClinVar |
| 13 | g.32356517_32356518insT | CA025133 | BRCA2 | c.7525_7526insT (p.Ser2509MetfsTer30) c.7156_7157insT (p.Ser2386MetfsTer30) c.90_91insT n.7525_7526insT c.7429_7430insT (p.Ser2477MetfsTer30) | ClinVar dbSNP |
| 13 | g.32356518G>A | CA387743561 | BRCA2 | c.7526G>A (p.Ser2509Asn) c.7157G>A (p.Ser2386Asn) c.91G>A n.7526G>A c.7430G>A (p.Ser2477Asn) | ClinVar dbSNP |
| 13 | g.32356518G>C | CA387743563 | BRCA2 | c.7526G>C (p.Ser2509Thr) c.7157G>C (p.Ser2386Thr) c.91G>C n.7526G>C c.7430G>C (p.Ser2477Thr) | ClinVar dbSNP |
| 13 | g.32356518G= | CA2082814820 | BRCA2 | c.7526G= (p.Ser2509=) c.7157G= (p.Ser2386=) c.91G= n.7526G= c.7430G= (p.Ser2477=) | |
| 13 | g.32356518G>T | CA387743568 | BRCA2 | c.7526G>T (p.Ser2509Ile) c.7157G>T (p.Ser2386Ile) c.91G>T n.7526G>T c.7430G>T (p.Ser2477Ile) | dbSNP |
| 13 | g.32356520_32356523dup | CA2580087473 | BRCA2 | c.7528_7531dup (p.Tyr2511SerfsTer29) c.7159_7162dup (p.Tyr2388SerfsTer29) c.93_96dup n.7528_7531dup c.7432_7435dup (p.Tyr2479SerfsTer29) | ClinVar |
| 13 | g.32356519T>A | CA387743569 | BRCA2 | c.7527T>A (p.Ser2509Arg) c.7158T>A (p.Ser2386Arg) c.92T>A n.7527T>A c.7431T>A (p.Ser2477Arg) | dbSNP |
| 13 | g.32356519T>C | CA483260393 | BRCA2 | c.7527T>C (p.Ser2509=) c.7158T>C (p.Ser2386=) c.92T>C n.7527T>C c.7431T>C (p.Ser2477=) | ClinVar dbSNP |
| 13 | g.32356519T>G | CA387743572 | BRCA2 | c.7527T>G (p.Ser2509Arg) c.7158T>G (p.Ser2386Arg) c.92T>G n.7527T>G c.7431T>G (p.Ser2477Arg) | dbSNP |
| 13 | g.32356519T= | CA2082814829 | BRCA2 | c.7527T= (p.Ser2509=) c.7158T= (p.Ser2386=) c.92T= n.7527T= c.7431T= (p.Ser2477=) | |
| 13 | g.32356520C>A | CA387743574 | BRCA2 | c.7528C>A (p.Leu2510Met) c.7159C>A (p.Leu2387Met) c.93C>A n.7528C>A c.7432C>A (p.Leu2478Met) | dbSNP |
| 13 | g.32356520C= | CA2082814842 | BRCA2 | c.7528C= (p.Leu2510=) c.7159C= (p.Leu2387=) c.93C= n.7528C= c.7432C= (p.Leu2478=) | |
| 13 | g.32356520C>G | CA387743576 | BRCA2 | c.7528C>G (p.Leu2510Val) c.7159C>G (p.Leu2387Val) c.93C>G n.7528C>G c.7432C>G (p.Leu2478Val) | dbSNP |
| 13 | g.32356520C>T | CA483260394 | BRCA2 | c.7528C>T (p.Leu2510=) c.7159C>T (p.Leu2387=) c.93C>T n.7528C>T c.7432C>T (p.Leu2478=) | ClinVar dbSNP |
| 13 | g.32356520_32356521delinsAC | CA2573149393 | BRCA2 | c.7528_7529delinsAC (p.Leu2510Thr) c.7159_7160delinsAC (p.Leu2387Thr) c.93_94delinsAC n.7528_7529delinsAC c.7432_7433delinsAC (p.Leu2478Thr) | ClinVar dbSNP |
| 13 | g.32356520_32356522delinsCTG | CA2082814838 | BRCA2 | c.7528_7530delinsCTG (p.Leu2510=) c.7159_7161delinsCTG (p.Leu2387=) c.93_95delinsCTG n.7528_7530delinsCTG c.7432_7434delinsCTG (p.Leu2478=) | |
| 13 | g.32356521T>A | CA387743582 | BRCA2 | c.7529T>A (p.Leu2510Gln) c.7160T>A (p.Leu2387Gln) c.94T>A n.7529T>A c.7433T>A (p.Leu2478Gln) | dbSNP |
| 13 | g.32356521T>C | CA025134 | BRCA2 | c.7529T>C (p.Leu2510Pro) c.7160T>C (p.Leu2387Pro) c.94T>C n.7529T>C c.7433T>C (p.Leu2478Pro) | ClinVar dbSNP |
| 13 | g.32356521T>G | CA387743580 | BRCA2 | c.7529T>G (p.Leu2510Arg) c.7160T>G (p.Leu2387Arg) c.94T>G n.7529T>G c.7433T>G (p.Leu2478Arg) | ClinVar dbSNP |
| 13 | g.32356521T= | CA2082814862 | BRCA2 | c.7529T= (p.Leu2510=) c.7160T= (p.Leu2387=) c.94T= n.7529T= c.7433T= (p.Leu2478=) | |
| 13 | g.32356522_32356523del | CA10589436 | BRCA2 | c.7530_7531del (p.Tyr2511SerfsTer27) c.7161_7162del (p.Tyr2388SerfsTer27) c.95_96del n.7530_7531del c.7434_7435del (p.Tyr2479SerfsTer27) | ClinVar dbSNP |
| 13 | g.32356522G>A | CA16606816 | BRCA2 | c.7530G>A (p.Leu2510=) c.7161G>A (p.Leu2387=) c.95G>A n.7530G>A c.7434G>A (p.Leu2478=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356522G>C | CA483260395 | BRCA2 | c.7530G>C (p.Leu2510=) c.7161G>C (p.Leu2387=) c.95G>C n.7530G>C c.7434G>C (p.Leu2478=) | ClinVar dbSNP |
| 13 | g.32356522G= | CA2082814872 | BRCA2 | c.7530G= (p.Leu2510=) c.7161G= (p.Leu2387=) c.95G= n.7530G= c.7434G= (p.Leu2478=) | |
| 13 | g.32356522G>T | CA483260396 | BRCA2 | c.7530G>T (p.Leu2510=) c.7161G>T (p.Leu2387=) c.95G>T n.7530G>T c.7434G>T (p.Leu2478=) | |
| 13 | g.32356523T>A | CA387743584 | BRCA2 | c.7531T>A (p.Tyr2511Asn) c.7162T>A (p.Tyr2388Asn) c.96T>A n.7531T>A c.7435T>A (p.Tyr2479Asn) | ClinVar dbSNP |
| 13 | g.32356523T>C | CA387743586 | BRCA2 | c.7531T>C (p.Tyr2511His) c.7162T>C (p.Tyr2388His) c.96T>C n.7531T>C c.7435T>C (p.Tyr2479His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356523T>G | CA387743588 | BRCA2 | c.7531T>G (p.Tyr2511Asp) c.7162T>G (p.Tyr2388Asp) c.96T>G n.7531T>G c.7435T>G (p.Tyr2479Asp) | dbSNP |
| 13 | g.32356523dup | CA2580087474 | BRCA2 | c.7531dup (p.Tyr2511LeufsTer28) c.7162dup (p.Tyr2388LeufsTer28) c.96dup n.7531dup c.7435dup (p.Tyr2479LeufsTer28) | ClinVar |
| 13 | g.32356524A= | CA2082814878 | BRCA2 | c.7532A= (p.Tyr2511=) c.7163A= (p.Tyr2388=) c.97A= n.7532A= c.7436A= (p.Tyr2479=) | |
| 13 | g.32356524A>C | CA387743591 | BRCA2 | c.7532A>C (p.Tyr2511Ser) c.7163A>C (p.Tyr2388Ser) c.97A>C n.7532A>C c.7436A>C (p.Tyr2479Ser) | dbSNP |
| 13 | g.32356524A>G | CA16619764 | BRCA2 | c.7532A>G (p.Tyr2511Cys) c.7163A>G (p.Tyr2388Cys) c.97A>G n.7532A>G c.7436A>G (p.Tyr2479Cys) | ClinVar dbSNP |
| 13 | g.32356524A>T | CA387743595 | BRCA2 | c.7532A>T (p.Tyr2511Phe) c.7163A>T (p.Tyr2388Phe) c.97A>T n.7532A>T c.7436A>T (p.Tyr2479Phe) | dbSNP |
| 13 | g.32356525T>A | CA387743596 | BRCA2 | c.7533T>A (p.Tyr2511Ter) c.7164T>A (p.Tyr2388Ter) c.98T>A n.7533T>A c.7437T>A (p.Tyr2479Ter) | |
| 13 | g.32356525T>C | CA483260397 | BRCA2 | c.7533T>C (p.Tyr2511=) c.7164T>C (p.Tyr2388=) c.98T>C n.7533T>C c.7437T>C (p.Tyr2479=) | |
| 13 | g.32356525T>G | CA387743598 | BRCA2 | c.7533T>G (p.Tyr2511Ter) c.7164T>G (p.Tyr2388Ter) c.98T>G n.7533T>G c.7437T>G (p.Tyr2479Ter) | |
| 13 | g.32356526del | CA2580087475 | BRCA2 | c.7534del (p.Ala2513GlnfsTer11) c.7165del (p.Ala2390GlnfsTer11) c.1del (p.Ala2GlnfsTer11) c.99del n.7534del c.7438del (p.Ala2481GlnfsTer11) | ClinVar dbSNP |
| 13 | g.32356526C>A | CA387743599 | BRCA2 | c.7534C>A (p.Leu2512Ile) c.7165C>A (p.Leu2389Ile) c.1C>A (p.Leu1Ile) c.99C>A n.7534C>A c.7438C>A (p.Leu2480Ile) | |
| 13 | g.32356526C= | CA2082814884 | BRCA2 | c.7534C= (p.Leu2512=) c.7165C= (p.Leu2389=) c.1C= (p.Leu1=) c.99C= n.7534C= c.7438C= (p.Leu2480=) | |
| 13 | g.32356526C>G | CA387743601 | BRCA2 | c.7534C>G (p.Leu2512Val) c.7165C>G (p.Leu2389Val) c.1C>G (p.Leu1Val) c.99C>G n.7534C>G c.7438C>G (p.Leu2480Val) | dbSNP |
| 13 | g.32356526C>T | CA025136 | BRCA2 | c.7534C>T (p.Leu2512Phe) c.7165C>T (p.Leu2389Phe) c.1C>T (p.Leu1Phe) c.99C>T n.7534C>T c.7438C>T (p.Leu2480Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356527T>A | CA387743605 | BRCA2 | c.7535T>A (p.Leu2512His) c.7166T>A (p.Leu2389His) c.2T>A (p.Leu1His) c.100T>A n.7535T>A c.7439T>A (p.Leu2480His) | dbSNP |
| 13 | g.32356527T>C | CA387743607 | BRCA2 | c.7535T>C (p.Leu2512Pro) c.7166T>C (p.Leu2389Pro) c.2T>C (p.Leu1Pro) c.100T>C n.7535T>C c.7439T>C (p.Leu2480Pro) | ClinVar dbSNP |
| 13 | g.32356527T>G | CA387743610 | BRCA2 | c.7535T>G (p.Leu2512Arg) c.7166T>G (p.Leu2389Arg) c.2T>G (p.Leu1Arg) c.100T>G n.7535T>G c.7439T>G (p.Leu2480Arg) | |
| 13 | g.32356527T= | CA2082814894 | BRCA2 | c.7535T= (p.Leu2512=) c.7166T= (p.Leu2389=) c.2T= (p.Leu1=) c.100T= n.7535T= c.7439T= (p.Leu2480=) | |
| 13 | g.32356528T>A | CA483260398 | BRCA2 | c.7536T>A (p.Leu2512=) c.7167T>A (p.Leu2389=) c.3T>A (p.Leu1=) c.101T>A n.7536T>A c.7440T>A (p.Leu2480=) | dbSNP |
| 13 | g.32356528T>C | CA483260399 | BRCA2 | c.7536T>C (p.Leu2512=) c.7167T>C (p.Leu2389=) c.3T>C (p.Leu1=) c.101T>C n.7536T>C c.7440T>C (p.Leu2480=) | ClinVar dbSNP |
| 13 | g.32356528T>G | CA483260400 | BRCA2 | c.7536T>G (p.Leu2512=) c.7167T>G (p.Leu2389=) c.3T>G (p.Leu1=) c.101T>G n.7536T>G c.7440T>G (p.Leu2480=) | ClinVar |
| 13 | g.32356528T= | CA2082814904 | BRCA2 | c.7536T= (p.Leu2512=) c.7167T= (p.Leu2389=) c.3T= (p.Leu1=) c.101T= n.7536T= c.7440T= (p.Leu2480=) | |
| 13 | g.32356529G>A | CA387743615 | BRCA2 | c.7537G>A (p.Ala2513Thr) c.7168G>A (p.Ala2390Thr) c.4G>A (p.Ala2Thr) c.102G>A n.7537G>A c.7441G>A (p.Ala2481Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356529G>C | CA387743613 | BRCA2 | c.7537G>C (p.Ala2513Pro) c.7168G>C (p.Ala2390Pro) c.4G>C (p.Ala2Pro) c.102G>C n.7537G>C c.7441G>C (p.Ala2481Pro) | dbSNP gnomAD v4 |
| 13 | g.32356529G= | CA2082814916 | BRCA2 | c.7537G= (p.Ala2513=) c.7168G= (p.Ala2390=) c.4G= (p.Ala2=) c.102G= n.7537G= c.7441G= (p.Ala2481=) | |
| 13 | g.32356529G>T | CA387743612 | BRCA2 | c.7537G>T (p.Ala2513Ser) c.7168G>T (p.Ala2390Ser) c.4G>T (p.Ala2Ser) c.102G>T n.7537G>T c.7441G>T (p.Ala2481Ser) | |
| 13 | g.32356529_32356530delinsGC | CA2082814921 | BRCA2 | c.7537_7538delinsGC (p.Ala2513=) c.7168_7169delinsGC (p.Ala2390=) c.4_5delinsGC (p.Ala2=) c.102_103delinsGC n.7537_7538delinsGC c.7441_7442delinsGC (p.Ala2481=) | |
| 13 | g.32356529_32356539delinsGCAAAAACATC | CA2082814910 | BRCA2 | c.7537_7547delinsGCAAAAACATC (p.Ala2513=) c.7168_7178delinsGCAAAAACATC (p.Ala2390=) c.4_14delinsGCAAAAACATC (p.Ala2=) c.102_112delinsGCAAAAACATC n.7537_7547delinsGCAAAAACATC c.7441_7451delinsGCAAAAACATC (p.Ala2481=) | |
| 13 | g.32356529_32356545delinsGCAAAAACATCCACTCT | CA2082814908 | BRCA2 | c.7537_7553delinsGCAAAAACATCCACTCT (p.Ala2513=) c.7168_7184delinsGCAAAAACATCCACTCT (p.Ala2390=) c.4_20delinsGCAAAAACATCCACTCT (p.Ala2=) c.102_118delinsGCAAAAACATCCACTCT n.7537_7553delinsGCAAAAACATCCACTCT c.7441_7457delinsGCAAAAACATCCACTCT (p.Ala2481=) | |
| 13 | g.32356530del | CA025137 | BRCA2 | c.7538del (p.Ala2513GlufsTer11) c.7169del (p.Ala2390GlufsTer11) c.5del (p.Ala2GlufsTer11) c.103del n.7538del c.7442del (p.Ala2481GlufsTer11) | ClinVar dbSNP |
| 13 | g.32356530C>A | CA16614004 | BRCA2 | c.7538C>A (p.Ala2513Glu) c.7169C>A (p.Ala2390Glu) c.5C>A (p.Ala2Glu) c.103C>A n.7538C>A c.7442C>A (p.Ala2481Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356530C= | CA2082814933 | BRCA2 | c.7538C= (p.Ala2513=) c.7169C= (p.Ala2390=) c.5C= (p.Ala2=) c.103C= n.7538C= c.7442C= (p.Ala2481=) | |
| 13 | g.32356530C>G | CA387743618 | BRCA2 | c.7538C>G (p.Ala2513Gly) c.7169C>G (p.Ala2390Gly) c.5C>G (p.Ala2Gly) c.103C>G n.7538C>G c.7442C>G (p.Ala2481Gly) | |
| 13 | g.32356530C>T | CA387743619 | BRCA2 | c.7538C>T (p.Ala2513Val) c.7169C>T (p.Ala2390Val) c.5C>T (p.Ala2Val) c.103C>T n.7538C>T c.7442C>T (p.Ala2481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356530_32356531delinsCA | CA2082814931 | BRCA2 | c.7538_7539delinsCA (p.Ala2513=) c.7169_7170delinsCA (p.Ala2390=) c.5_6delinsCA (p.Ala2=) c.103_104delinsCA n.7538_7539delinsCA c.7442_7443delinsCA (p.Ala2481=) | |
| 13 | g.32356532_32356541del | CA915946870 | BRCA2 | c.7540_7549del (p.Lys2514LeufsTer7) c.7171_7180del (p.Lys2391LeufsTer7) c.7_16del (p.Lys3LeufsTer7) c.105_114del n.7540_7549del c.7444_7453del (p.Lys2482LeufsTer7) | ClinVar dbSNP |
| 13 | g.32356530_32356545del | CA919242758 | BRCA2 | c.7538_7553del (p.Ala2513GlyfsTer6) c.7169_7184del (p.Ala2390GlyfsTer6) c.5_20del (p.Ala2GlyfsTer6) c.103_118del n.7538_7553del c.7442_7457del (p.Ala2481GlyfsTer6) | dbSNP |
| 13 | g.32356531A= | CA2082814947 | BRCA2 | c.7539A= (p.Ala2513=) c.7170A= (p.Ala2390=) c.6A= (p.Ala2=) c.104A= n.7539A= c.7443A= (p.Ala2481=) | |
| 13 | g.32356531A>C | CA483260401 | BRCA2 | c.7539A>C (p.Ala2513=) c.7170A>C (p.Ala2390=) c.6A>C (p.Ala2=) c.104A>C n.7539A>C c.7443A>C (p.Ala2481=) | |
| 13 | g.32356531A>G | CA483260402 | BRCA2 | c.7539A>G (p.Ala2513=) c.7170A>G (p.Ala2390=) c.6A>G (p.Ala2=) c.104A>G n.7539A>G c.7443A>G (p.Ala2481=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356531A>T | CA483260403 | BRCA2 | c.7539A>T (p.Ala2513=) c.7170A>T (p.Ala2390=) c.6A>T (p.Ala2=) c.104A>T n.7539A>T c.7443A>T (p.Ala2481=) | dbSNP |
| 13 | g.32356535dup | CA025138 | BRCA2 | c.7543dup (p.Thr2515AsnfsTer24) c.7174dup (p.Thr2392AsnfsTer24) c.10dup (p.Thr4AsnfsTer24) c.108dup n.7543dup c.7447dup (p.Thr2483AsnfsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356535del | CA025139 | BRCA2 | c.7543del (p.Thr2515HisfsTer9) c.7174del (p.Thr2392HisfsTer9) c.10del (p.Thr4HisfsTer9) c.108del n.7543del c.7447del (p.Thr2483HisfsTer9) | ClinVar dbSNP |
| 13 | g.32356532A= | CA2082814954 | BRCA2 | c.7540A= (p.Lys2514=) c.7171A= (p.Lys2391=) c.7A= (p.Lys3=) c.105A= n.7540A= c.7444A= (p.Lys2482=) | |
| 13 | g.32356532A>C | CA387743623 | BRCA2 | c.7540A>C (p.Lys2514Gln) c.7171A>C (p.Lys2391Gln) c.7A>C (p.Lys3Gln) c.105A>C n.7540A>C c.7444A>C (p.Lys2482Gln) | dbSNP |
| 13 | g.32356532A>G | CA348259 | BRCA2 | c.7540A>G (p.Lys2514Glu) c.7171A>G (p.Lys2391Glu) c.7A>G (p.Lys3Glu) c.105A>G n.7540A>G c.7444A>G (p.Lys2482Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356532A>T | CA387743626 | BRCA2 | c.7540A>T (p.Lys2514Ter) c.7171A>T (p.Lys2391Ter) c.7A>T (p.Lys3Ter) c.105A>T n.7540A>T c.7444A>T (p.Lys2482Ter) | dbSNP |
| 13 | g.32356533A= | CA2082814967 | BRCA2 | c.7541A= (p.Lys2514=) c.7172A= (p.Lys2391=) c.8A= (p.Lys3=) c.106A= n.7541A= c.7445A= (p.Lys2482=) | |
| 13 | g.32356533A>C | CA387743633 | BRCA2 | c.7541A>C (p.Lys2514Thr) c.7172A>C (p.Lys2391Thr) c.8A>C (p.Lys3Thr) c.106A>C n.7541A>C c.7445A>C (p.Lys2482Thr) | ClinVar dbSNP |
| 13 | g.32356533A>G | CA387743629 | BRCA2 | c.7541A>G (p.Lys2514Arg) c.7172A>G (p.Lys2391Arg) c.8A>G (p.Lys3Arg) c.106A>G n.7541A>G c.7445A>G (p.Lys2482Arg) | |
| 13 | g.32356533A>T | CA387743631 | BRCA2 | c.7541A>T (p.Lys2514Ile) c.7172A>T (p.Lys2391Ile) c.8A>T (p.Lys3Ile) c.106A>T n.7541A>T c.7445A>T (p.Lys2482Ile) | |
| 13 | g.32356534_32356541dup | CA2499222294 | BRCA2 | c.7542_7549dup (p.Thr2517LysfsTer10) c.7173_7180dup (p.Thr2394LysfsTer10) c.9_16dup (p.Thr6LysfsTer10) c.107_114dup n.7542_7549dup c.7446_7453dup (p.Thr2485LysfsTer10) | ClinVar dbSNP |
| 13 | g.32356534A>C | CA387743635 | BRCA2 | c.7542A>C (p.Lys2514Asn) c.7173A>C (p.Lys2391Asn) c.9A>C (p.Lys3Asn) c.107A>C n.7542A>C c.7446A>C (p.Lys2482Asn) | ClinVar |
| 13 | g.32356534A>G | CA483260404 | BRCA2 | c.7542A>G (p.Lys2514=) c.7173A>G (p.Lys2391=) c.9A>G (p.Lys3=) c.107A>G n.7542A>G c.7446A>G (p.Lys2482=) | |
| 13 | g.32356534A>T | CA387743637 | BRCA2 | c.7542A>T (p.Lys2514Asn) c.7173A>T (p.Lys2391Asn) c.9A>T (p.Lys3Asn) c.107A>T n.7542A>T c.7446A>T (p.Lys2482Asn) | dbSNP |
| 13 | g.32356535A= | CA2082814976 | BRCA2 | c.7543A= (p.Thr2515=) c.7174A= (p.Thr2392=) c.10A= (p.Thr4=) c.108A= n.7543A= c.7447A= (p.Thr2483=) | |
| 13 | g.32356535A>C | CA387743640 | BRCA2 | c.7543A>C (p.Thr2515Pro) c.7174A>C (p.Thr2392Pro) c.10A>C (p.Thr4Pro) c.108A>C n.7543A>C c.7447A>C (p.Thr2483Pro) | dbSNP gnomAD v2 |
| 13 | g.32356535A>G | CA387743642 | BRCA2 | c.7543A>G (p.Thr2515Ala) c.7174A>G (p.Thr2392Ala) c.10A>G (p.Thr4Ala) c.108A>G n.7543A>G c.7447A>G (p.Thr2483Ala) | |
| 13 | g.32356535A>T | CA387743645 | BRCA2 | c.7543A>T (p.Thr2515Ser) c.7174A>T (p.Thr2392Ser) c.10A>T (p.Thr4Ser) c.108A>T n.7543A>T c.7447A>T (p.Thr2483Ser) | ClinVar dbSNP |
| 13 | g.32356535_32356536delinsAC | CA2082814971 | BRCA2 | c.7543_7544delinsAC (p.Thr2515=) c.7174_7175delinsAC (p.Thr2392=) c.10_11delinsAC (p.Thr4=) c.108_109delinsAC n.7543_7544delinsAC c.7447_7448delinsAC (p.Thr2483=) | |
| 13 | g.32356536del | CA025141 | BRCA2 | c.7544del (p.Thr2515AsnfsTer9) c.7175del (p.Thr2392AsnfsTer9) c.11del (p.Thr4AsnfsTer9) c.109del n.7544del c.7448del (p.Thr2483AsnfsTer9) | ClinVar dbSNP |
| 13 | g.32356536C>A | CA387743648 | BRCA2 | c.7544C>A (p.Thr2515Lys) c.7175C>A (p.Thr2392Lys) c.11C>A (p.Thr4Lys) c.109C>A n.7544C>A c.7448C>A (p.Thr2483Lys) | dbSNP |
| 13 | g.32356536C= | CA2082814987 | BRCA2 | c.7544C= (p.Thr2515=) c.7175C= (p.Thr2392=) c.11C= (p.Thr4=) c.109C= n.7544C= c.7448C= (p.Thr2483=) | |
| 13 | g.32356536C>G | CA387743658 | BRCA2 | c.7544C>G (p.Thr2515Arg) c.7175C>G (p.Thr2392Arg) c.11C>G (p.Thr4Arg) c.109C>G n.7544C>G c.7448C>G (p.Thr2483Arg) | dbSNP |
| 13 | g.32356536C>T | CA025140 | BRCA2 | c.7544C>T (p.Thr2515Ile) c.7175C>T (p.Thr2392Ile) c.11C>T (p.Thr4Ile) c.109C>T n.7544C>T c.7448C>T (p.Thr2483Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32356537A= | CA2082814995 | BRCA2 | c.7545A= (p.Thr2515=) c.7176A= (p.Thr2392=) c.12A= (p.Thr4=) c.110A= n.7545A= c.7449A= (p.Thr2483=) | |
| 13 | g.32356537A>C | CA483260405 | BRCA2 | c.7545A>C (p.Thr2515=) c.7176A>C (p.Thr2392=) c.12A>C (p.Thr4=) c.110A>C n.7545A>C c.7449A>C (p.Thr2483=) | dbSNP |
| 13 | g.32356537A>G | CA6941106 | BRCA2 | c.7545A>G (p.Thr2515=) c.7176A>G (p.Thr2392=) c.12A>G (p.Thr4=) c.110A>G n.7545A>G c.7449A>G (p.Thr2483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356537A>T | CA483260406 | BRCA2 | c.7545A>T (p.Thr2515=) c.7176A>T (p.Thr2392=) c.12A>T (p.Thr4=) c.110A>T n.7545A>T c.7449A>T (p.Thr2483=) | ClinVar dbSNP |
| 13 | g.32356538T>A | CA387743663 | BRCA2 | c.7546T>A (p.Ser2516Thr) c.7177T>A (p.Ser2393Thr) c.13T>A (p.Ser5Thr) c.111T>A n.7546T>A c.7450T>A (p.Ser2484Thr) | |
| 13 | g.32356538T>C | CA387743665 | BRCA2 | c.7546T>C (p.Ser2516Pro) c.7177T>C (p.Ser2393Pro) c.13T>C (p.Ser5Pro) c.111T>C n.7546T>C c.7450T>C (p.Ser2484Pro) | ClinVar dbSNP |
| 13 | g.32356538T>G | CA387743667 | BRCA2 | c.7546T>G (p.Ser2516Ala) c.7177T>G (p.Ser2393Ala) c.13T>G (p.Ser5Ala) c.111T>G n.7546T>G c.7450T>G (p.Ser2484Ala) | dbSNP |
| 13 | g.32356538T= | CA2082815004 | BRCA2 | c.7546T= (p.Ser2516=) c.7177T= (p.Ser2393=) c.13T= (p.Ser5=) c.111T= n.7546T= c.7450T= (p.Ser2484=) | |
| 13 | g.32356539C>A | CA387743670 | BRCA2 | c.7547C>A (p.Ser2516Tyr) c.7178C>A (p.Ser2393Tyr) c.14C>A (p.Ser5Tyr) c.112C>A n.7547C>A c.7451C>A (p.Ser2484Tyr) | dbSNP |
| 13 | g.32356539C= | CA2082815019 | BRCA2 | c.7547C= (p.Ser2516=) c.7178C= (p.Ser2393=) c.14C= (p.Ser5=) c.112C= n.7547C= c.7451C= (p.Ser2484=) | |
| 13 | g.32356539C>G | CA10577492 | BRCA2 | c.7547C>G (p.Ser2516Cys) c.7178C>G (p.Ser2393Cys) c.14C>G (p.Ser5Cys) c.112C>G n.7547C>G c.7451C>G (p.Ser2484Cys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356539C>T | CA6941107 | BRCA2 | c.7547C>T (p.Ser2516Phe) c.7178C>T (p.Ser2393Phe) c.14C>T (p.Ser5Phe) c.112C>T n.7547C>T c.7451C>T (p.Ser2484Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356540del | CA2580087479 | BRCA2 | c.7548del (p.Thr2517LeufsTer7) c.7179del (p.Thr2394LeufsTer7) c.15del (p.Thr6LeufsTer7) c.113del n.7548del c.7452del (p.Thr2485LeufsTer7) | ClinVar |
| 13 | g.32356539_32356541delinsCCA | CA2082815016 | BRCA2 | c.7547_7549delinsCCA (p.Ser2516=) c.7178_7180delinsCCA (p.Ser2393=) c.14_16delinsCCA (p.Ser5=) c.112_114delinsCCA n.7547_7549delinsCCA c.7451_7453delinsCCA (p.Ser2484=) | |
| 13 | g.32356539_32356540insACCAAACACACCCAACA | CA2798719183 | BRCA2 | c.7547_7548insACCAAACACACCCAACA (p.Thr2517ProfsTer13) c.7178_7179insACCAAACACACCCAACA (p.Thr2394ProfsTer13) c.14_15insACCAAACACACCCAACA (p.Thr6ProfsTer13) c.112_113insACCAAACACACCCAACA n.7547_7548insACCAAACACACCCAACA c.7451_7452insACCAAACACACCCAACA (p.Thr2485ProfsTer13) | |
| 13 | g.32356540C>A | CA483260407 | BRCA2 | c.7548C>A (p.Ser2516=) c.7179C>A (p.Ser2393=) c.15C>A (p.Ser5=) c.113C>A n.7548C>A c.7452C>A (p.Ser2484=) | |
| 13 | g.32356540C>G | CA483260408 | BRCA2 | c.7548C>G (p.Ser2516=) c.7179C>G (p.Ser2393=) c.15C>G (p.Ser5=) c.113C>G n.7548C>G c.7452C>G (p.Ser2484=) | dbSNP |
| 13 | g.32356540C>T | CA483260409 | BRCA2 | c.7548C>T (p.Ser2516=) c.7179C>T (p.Ser2393=) c.15C>T (p.Ser5=) c.113C>T n.7548C>T c.7452C>T (p.Ser2484=) | dbSNP gnomAD v4 |
| 13 | g.32356541_32356542del | CA10586579 | BRCA2 | c.7549_7550del (p.Thr2517SerfsTer21) c.7180_7181del (p.Thr2394SerfsTer21) c.16_17del (p.Thr6SerfsTer21) c.114_115del n.7549_7550del c.7453_7454del (p.Thr2485SerfsTer21) | ClinVar dbSNP |
| 13 | g.32356541A= | CA2082815029 | BRCA2 | c.7549A= (p.Thr2517=) c.7180A= (p.Thr2394=) c.16A= (p.Thr6=) c.114A= n.7549A= c.7453A= (p.Thr2485=) | |
| 13 | g.32356541A>C | CA387743677 | BRCA2 | c.7549A>C (p.Thr2517Pro) c.7180A>C (p.Thr2394Pro) c.16A>C (p.Thr6Pro) c.114A>C n.7549A>C c.7453A>C (p.Thr2485Pro) | gnomAD v4 |
| 13 | g.32356541A>G | CA387743679 | BRCA2 | c.7549A>G (p.Thr2517Ala) c.7180A>G (p.Thr2394Ala) c.16A>G (p.Thr6Ala) c.114A>G n.7549A>G c.7453A>G (p.Thr2485Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356541A>T | CA387743681 | BRCA2 | c.7549A>T (p.Thr2517Ser) c.7180A>T (p.Thr2394Ser) c.16A>T (p.Thr6Ser) c.114A>T n.7549A>T c.7453A>T (p.Thr2485Ser) | dbSNP |
| 13 | g.32356542C>A | CA387743684 | BRCA2 | c.7550C>A (p.Thr2517Asn) c.7181C>A (p.Thr2394Asn) c.17C>A (p.Thr6Asn) c.115C>A n.7550C>A c.7454C>A (p.Thr2485Asn) | dbSNP |
| 13 | g.32356542C= | CA2082815039 | BRCA2 | c.7550C= (p.Thr2517=) c.7181C= (p.Thr2394=) c.17C= (p.Thr6=) c.115C= n.7550C= c.7454C= (p.Thr2485=) | |
| 13 | g.32356542C>G | CA387743689 | BRCA2 | c.7550C>G (p.Thr2517Ser) c.7181C>G (p.Thr2394Ser) c.17C>G (p.Thr6Ser) c.115C>G n.7550C>G c.7454C>G (p.Thr2485Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356542C>T | CA387743686 | BRCA2 | c.7550C>T (p.Thr2517Ile) c.7181C>T (p.Thr2394Ile) c.17C>T (p.Thr6Ile) c.115C>T n.7550C>T c.7454C>T (p.Thr2485Ile) | ClinVar dbSNP |
| 13 | g.32356543T>A | CA483260410 | BRCA2 | c.7551T>A (p.Thr2517=) c.7182T>A (p.Thr2394=) c.18T>A (p.Thr6=) c.116T>A n.7551T>A c.7455T>A (p.Thr2485=) | dbSNP |
| 13 | g.32356543T>C | CA483260411 | BRCA2 | c.7551T>C (p.Thr2517=) c.7182T>C (p.Thr2394=) c.18T>C (p.Thr6=) c.116T>C n.7551T>C c.7455T>C (p.Thr2485=) | ClinVar dbSNP |
| 13 | g.32356543T>G | CA483260412 | BRCA2 | c.7551T>G (p.Thr2517=) c.7182T>G (p.Thr2394=) c.18T>G (p.Thr6=) c.116T>G n.7551T>G c.7455T>G (p.Thr2485=) | |
| 13 | g.32356543T= | CA2082815050 | BRCA2 | c.7551T= (p.Thr2517=) c.7182T= (p.Thr2394=) c.18T= (p.Thr6=) c.116T= n.7551T= c.7455T= (p.Thr2485=) | |
| 13 | g.32356543dup | CA919242763 | BRCA2 | c.7551dup (p.Leu2518SerfsTer21) c.7182dup (p.Leu2395SerfsTer21) c.18dup (p.Leu7SerfsTer21) c.116dup n.7551dup c.7455dup (p.Leu2486SerfsTer21) | dbSNP |
| 13 | g.32356544C>A | CA387743691 | BRCA2 | c.7552C>A (p.Leu2518Met) c.7183C>A (p.Leu2395Met) c.19C>A (p.Leu7Met) c.117C>A n.7552C>A c.7456C>A (p.Leu2486Met) | dbSNP |
| 13 | g.32356544C= | CA2082815059 | BRCA2 | c.7552C= (p.Leu2518=) c.7183C= (p.Leu2395=) c.19C= (p.Leu7=) c.117C= n.7552C= c.7456C= (p.Leu2486=) | |
| 13 | g.32356544C>G | CA387743693 | BRCA2 | c.7552C>G (p.Leu2518Val) c.7183C>G (p.Leu2395Val) c.19C>G (p.Leu7Val) c.117C>G n.7552C>G c.7456C>G (p.Leu2486Val) | ClinVar dbSNP |
| 13 | g.32356544C>T | CA483260413 | BRCA2 | c.7552C>T (p.Leu2518=) c.7183C>T (p.Leu2395=) c.19C>T (p.Leu7=) c.117C>T n.7552C>T c.7456C>T (p.Leu2486=) | ClinVar dbSNP |
| 13 | g.32356545T>A | CA387743695 | BRCA2 | c.7553T>A (p.Leu2518Gln) c.7184T>A (p.Leu2395Gln) c.20T>A (p.Leu7Gln) c.118T>A n.7553T>A c.7457T>A (p.Leu2486Gln) | |
| 13 | g.32356545T>C | CA387743698 | BRCA2 | c.7553T>C (p.Leu2518Pro) c.7184T>C (p.Leu2395Pro) c.20T>C (p.Leu7Pro) c.118T>C n.7553T>C c.7457T>C (p.Leu2486Pro) | |
| 13 | g.32356545T>G | CA387743700 | BRCA2 | c.7553T>G (p.Leu2518Arg) c.7184T>G (p.Leu2395Arg) c.20T>G (p.Leu7Arg) c.118T>G n.7553T>G c.7457T>G (p.Leu2486Arg) | ClinVar dbSNP |
| 13 | g.32356545T= | CA2082815094 | BRCA2 | c.7553T= (p.Leu2518=) c.7184T= (p.Leu2395=) c.20T= (p.Leu7=) c.118T= n.7553T= c.7457T= (p.Leu2486=) | |
| 13 | g.32356545dup | CA2499222295 | BRCA2 | c.7553dup (p.Pro2519AlafsTer20) c.7184dup (p.Pro2396AlafsTer20) c.20dup (p.Pro8AlafsTer20) c.118dup n.7553dup c.7457dup (p.Pro2487AlafsTer20) | |
| 13 | g.32356546G>A | CA483260416 | BRCA2 | c.7554G>A (p.Leu2518=) c.7185G>A (p.Leu2395=) c.21G>A (p.Leu7=) c.119G>A n.7554G>A c.7458G>A (p.Leu2486=) | ClinVar dbSNP |
| 13 | g.32356546G>C | CA483260415 | BRCA2 | c.7554G>C (p.Leu2518=) c.7185G>C (p.Leu2395=) c.21G>C (p.Leu7=) c.119G>C n.7554G>C c.7458G>C (p.Leu2486=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356546G= | CA2082815098 | BRCA2 | c.7554G= (p.Leu2518=) c.7185G= (p.Leu2395=) c.21G= (p.Leu7=) c.119G= n.7554G= c.7458G= (p.Leu2486=) | |
| 13 | g.32356546G>T | CA483260414 | BRCA2 | c.7554G>T (p.Leu2518=) c.7185G>T (p.Leu2395=) c.21G>T (p.Leu7=) c.119G>T n.7554G>T c.7458G>T (p.Leu2486=) | dbSNP |
| 13 | g.32356547C>A | CA387743707 | BRCA2 | c.7555C>A (p.Pro2519Thr) c.7186C>A (p.Pro2396Thr) c.22C>A (p.Pro8Thr) c.120C>A n.7555C>A c.7459C>A (p.Pro2487Thr) | dbSNP |
| 13 | g.32356547C>G | CA387743704 | BRCA2 | c.7555C>G (p.Pro2519Ala) c.7186C>G (p.Pro2396Ala) c.22C>G (p.Pro8Ala) c.120C>G n.7555C>G c.7459C>G (p.Pro2487Ala) | dbSNP |
| 13 | g.32356547C>T | CA387743703 | BRCA2 | c.7555C>T (p.Pro2519Ser) c.7186C>T (p.Pro2396Ser) c.22C>T (p.Pro8Ser) c.120C>T n.7555C>T c.7459C>T (p.Pro2487Ser) | dbSNP |
| 13 | g.32356548dup | CA025143 | BRCA2 | c.7556dup (p.Arg2520SerfsTer19) c.7187dup (p.Arg2397SerfsTer19) c.23dup (p.Arg9SerfsTer19) c.121dup n.7556dup c.7460dup (p.Arg2488SerfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356548C>A | CA387743711 | BRCA2 | c.7556C>A (p.Pro2519His) c.7187C>A (p.Pro2396His) c.23C>A (p.Pro8His) c.121C>A n.7556C>A c.7460C>A (p.Pro2487His) | |
| 13 | g.32356548C= | CA2082815111 | BRCA2 | c.7556C= (p.Pro2519=) c.7187C= (p.Pro2396=) c.23C= (p.Pro8=) c.121C= n.7556C= c.7460C= (p.Pro2487=) | |
| 13 | g.32356548C>G | CA387743713 | BRCA2 | c.7556C>G (p.Pro2519Arg) c.7187C>G (p.Pro2396Arg) c.23C>G (p.Pro8Arg) c.121C>G n.7556C>G c.7460C>G (p.Pro2487Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356548C>T | CA6941108 | BRCA2 | c.7556C>T (p.Pro2519Leu) c.7187C>T (p.Pro2396Leu) c.23C>T (p.Pro8Leu) c.121C>T n.7556C>T c.7460C>T (p.Pro2487Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356549T>A | CA483260417 | BRCA2 | c.7557T>A (p.Pro2519=) c.7188T>A (p.Pro2396=) c.24T>A (p.Pro8=) c.122T>A n.7557T>A c.7461T>A (p.Pro2487=) | dbSNP |
| 13 | g.32356549T>C | CA483260418 | BRCA2 | c.7557T>C (p.Pro2519=) c.7188T>C (p.Pro2396=) c.24T>C (p.Pro8=) c.122T>C n.7557T>C c.7461T>C (p.Pro2487=) | ClinVar dbSNP |
| 13 | g.32356549T>G | CA483260419 | BRCA2 | c.7557T>G (p.Pro2519=) c.7188T>G (p.Pro2396=) c.24T>G (p.Pro8=) c.122T>G n.7557T>G c.7461T>G (p.Pro2487=) | |
| 13 | g.32356549T= | CA2082815122 | BRCA2 | c.7557T= (p.Pro2519=) c.7188T= (p.Pro2396=) c.24T= (p.Pro8=) c.122T= n.7557T= c.7461T= (p.Pro2487=) | |
| 13 | g.32356549_32356550delinsTC | CA2082815119 | BRCA2 | c.7557_7558delinsTC (p.Pro2519=) c.7188_7189delinsTC (p.Pro2396=) c.24_25delinsTC (p.Pro8=) c.122_123delinsTC n.7557_7558delinsTC c.7461_7462delinsTC (p.Pro2487=) | |
| 13 | g.32356550del | CA10589437 | BRCA2 | c.7558del (p.Arg2520GlufsTer4) c.7189del (p.Arg2397GlufsTer4) c.25del (p.Arg9GlufsTer4) c.123del n.7558del c.7462del (p.Arg2488GlufsTer4) | ClinVar dbSNP |
| 13 | g.32356550C>A | CA483260420 | BRCA2 | c.7558C>A (p.Arg2520=) c.7189C>A (p.Arg2397=) c.25C>A (p.Arg9=) c.123C>A n.7558C>A c.7462C>A (p.Arg2488=) | dbSNP |
| 13 | g.32356550C= | CA2082815143 | BRCA2 | c.7558C= (p.Arg2520=) c.7189C= (p.Arg2397=) c.25C= (p.Arg9=) c.123C= n.7558C= c.7462C= (p.Arg2488=) | |
| 13 | g.32356550C>G | CA387743717 | BRCA2 | c.7558C>G (p.Arg2520Gly) c.7189C>G (p.Arg2397Gly) c.25C>G (p.Arg9Gly) c.123C>G n.7558C>G c.7462C>G (p.Arg2488Gly) | ClinVar dbSNP |
| 13 | g.32356550C>T | CA025146 | BRCA2 | c.7558C>T (p.Arg2520Ter) c.7189C>T (p.Arg2397Ter) c.25C>T (p.Arg9Ter) c.123C>T n.7558C>T c.7462C>T (p.Arg2488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356551G>A | CA025147 | BRCA2 | c.7559G>A (p.Arg2520Gln) c.7190G>A (p.Arg2397Gln) c.26G>A (p.Arg9Gln) c.124G>A n.7559G>A c.7463G>A (p.Arg2488Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356551G>C | CA025148 | BRCA2 | c.7559G>C (p.Arg2520Pro) c.7190G>C (p.Arg2397Pro) c.26G>C (p.Arg9Pro) c.124G>C n.7559G>C c.7463G>C (p.Arg2488Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356551G= | CA2082815157 | BRCA2 | c.7559G= (p.Arg2520=) c.7190G= (p.Arg2397=) c.26G= (p.Arg9=) c.124G= n.7559G= c.7463G= (p.Arg2488=) | |
| 13 | g.32356551G>T | CA025149 | BRCA2 | c.7559G>T (p.Arg2520Leu) c.7190G>T (p.Arg2397Leu) c.26G>T (p.Arg9Leu) c.124G>T n.7559G>T c.7463G>T (p.Arg2488Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356551_32356552delinsGA | CA2082815167 | BRCA2 | c.7559_7560delinsGA (p.Arg2520=) c.7190_7191delinsGA (p.Arg2397=) c.26_27delinsGA (p.Arg9=) c.124_125delinsGA n.7559_7560delinsGA c.7463_7464delinsGA (p.Arg2488=) | |
| 13 | g.32356552A= | CA2082815178 | BRCA2 | c.7560A= (p.Arg2520=) c.7191A= (p.Arg2397=) c.27A= (p.Arg9=) c.125A= n.7560A= c.7464A= (p.Arg2488=) | |
| 13 | g.32356552A>C | CA483260422 | BRCA2 | c.7560A>C (p.Arg2520=) c.7191A>C (p.Arg2397=) c.27A>C (p.Arg9=) c.125A>C n.7560A>C c.7464A>C (p.Arg2488=) | ClinVar |
| 13 | g.32356552A>G | CA483260423 | BRCA2 | c.7560A>G (p.Arg2520=) c.7191A>G (p.Arg2397=) c.27A>G (p.Arg9=) c.125A>G n.7560A>G c.7464A>G (p.Arg2488=) | |
| 13 | g.32356552A>T | CA483260424 | BRCA2 | c.7560A>T (p.Arg2520=) c.7191A>T (p.Arg2397=) c.27A>T (p.Arg9=) c.125A>T n.7560A>T c.7464A>T (p.Arg2488=) | ClinVar dbSNP |
| 13 | g.32356553del | CA10589438 | BRCA2 | c.7561del (p.Ile2521SerfsTer3) c.7192del (p.Ile2398SerfsTer3) c.28del (p.Ile10SerfsTer3) c.126del n.7561del c.7465del (p.Ile2489SerfsTer3) | ClinVar dbSNP |
| 13 | g.32356553A= | CA2082815194 | BRCA2 | c.7561A= (p.Ile2521=) c.7192A= (p.Ile2398=) c.28A= (p.Ile10=) c.126A= n.7561A= c.7465A= (p.Ile2489=) | |
| 13 | g.32356553A>C | CA387743728 | BRCA2 | c.7561A>C (p.Ile2521Leu) c.7192A>C (p.Ile2398Leu) c.28A>C (p.Ile10Leu) c.126A>C n.7561A>C c.7465A>C (p.Ile2489Leu) | ClinVar dbSNP |
| 13 | g.32356553A>G | CA025151 | BRCA2 | c.7561A>G (p.Ile2521Val) c.7192A>G (p.Ile2398Val) c.28A>G (p.Ile10Val) c.126A>G n.7561A>G c.7465A>G (p.Ile2489Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356553A>T | CA387743735 | BRCA2 | c.7561A>T (p.Ile2521Phe) c.7192A>T (p.Ile2398Phe) c.28A>T (p.Ile10Phe) c.126A>T n.7561A>T c.7465A>T (p.Ile2489Phe) | dbSNP |
| 13 | g.32356553_32356557delinsATCTC | CA2082815189 | BRCA2 | c.7561_7565delinsATCTC (p.Ile2521=) c.7192_7196delinsATCTC (p.Ile2398=) c.28_32delinsATCTC (p.Ile10=) c.126_130delinsATCTC n.7561_7565delinsATCTC c.7465_7469delinsATCTC (p.Ile2489=) | |
| 13 | g.32356554T>A | CA387743739 | BRCA2 | c.7562T>A (p.Ile2521Asn) c.7193T>A (p.Ile2398Asn) c.29T>A (p.Ile10Asn) c.127T>A n.7562T>A c.7466T>A (p.Ile2489Asn) | dbSNP |
| 13 | g.32356554T>C | CA025152 | BRCA2 | c.7562T>C (p.Ile2521Thr) c.7193T>C (p.Ile2398Thr) c.29T>C (p.Ile10Thr) c.127T>C n.7562T>C c.7466T>C (p.Ile2489Thr) | ClinVar dbSNP |
| 13 | g.32356554T>G | CA387743743 | BRCA2 | c.7562T>G (p.Ile2521Ser) c.7193T>G (p.Ile2398Ser) c.29T>G (p.Ile10Ser) c.127T>G n.7562T>G c.7466T>G (p.Ile2489Ser) | |
| 13 | g.32356554T= | CA2082815212 | BRCA2 | c.7562T= (p.Ile2521=) c.7193T= (p.Ile2398=) c.29T= (p.Ile10=) c.127T= n.7562T= c.7466T= (p.Ile2489=) | |
| 13 | g.32356559_32356560del | CA025157 | BRCA2 | c.7567_7568del (p.Leu2523GlufsTer15) c.7198_7199del (p.Leu2400GlufsTer15) c.34_35del (p.Leu12GlufsTer15) c.132_133del n.7567_7568del c.7471_7472del (p.Leu2491GlufsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356557_32356560del | CA10589439 | BRCA2 | c.7565_7568del (p.Ser2522Ter) c.7196_7199del (p.Ser2399Ter) c.32_35del (p.Ser11Ter) c.130_133del n.7565_7568del c.7469_7472del (p.Ser2490Ter) | ClinVar dbSNP |
| 13 | g.32356555del | CA2573149394 | BRCA2 | c.7563del (p.Ser2522LeufsTer2) c.7194del (p.Ser2399LeufsTer2) c.30del (p.Ser11LeufsTer2) c.128del n.7563del c.7467del (p.Ser2490LeufsTer2) | ClinVar dbSNP |
| 13 | g.32356555C>A | CA025153 | BRCA2 | c.7563C>A (p.Ile2521=) c.7194C>A (p.Ile2398=) c.30C>A (p.Ile10=) c.128C>A n.7563C>A c.7467C>A (p.Ile2489=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356555C= | CA2082815225 | BRCA2 | c.7563C= (p.Ile2521=) c.7194C= (p.Ile2398=) c.30C= (p.Ile10=) c.128C= n.7563C= c.7467C= (p.Ile2489=) | |
| 13 | g.32356555C>G | CA387743749 | BRCA2 | c.7563C>G (p.Ile2521Met) c.7194C>G (p.Ile2398Met) c.30C>G (p.Ile10Met) c.128C>G n.7563C>G c.7467C>G (p.Ile2489Met) | ClinVar dbSNP |
| 13 | g.32356555C>T | CA483260425 | BRCA2 | c.7563C>T (p.Ile2521=) c.7194C>T (p.Ile2398=) c.30C>T (p.Ile10=) c.128C>T n.7563C>T c.7467C>T (p.Ile2489=) | dbSNP |
| 13 | g.32356556T>A | CA387743752 | BRCA2 | c.7564T>A (p.Ser2522Thr) c.7195T>A (p.Ser2399Thr) c.31T>A (p.Ser11Thr) c.129T>A n.7564T>A c.7468T>A (p.Ser2490Thr) | dbSNP |
| 13 | g.32356556T>C | CA387743753 | BRCA2 | c.7564T>C (p.Ser2522Pro) c.7195T>C (p.Ser2399Pro) c.31T>C (p.Ser11Pro) c.129T>C n.7564T>C c.7468T>C (p.Ser2490Pro) | dbSNP |
| 13 | g.32356556T>G | CA387743755 | BRCA2 | c.7564T>G (p.Ser2522Ala) c.7195T>G (p.Ser2399Ala) c.31T>G (p.Ser11Ala) c.129T>G n.7564T>G c.7468T>G (p.Ser2490Ala) | |
| 13 | g.32356557C>A | CA387743761 | BRCA2 | c.7565C>A (p.Ser2522Tyr) c.7196C>A (p.Ser2399Tyr) c.32C>A (p.Ser11Tyr) c.130C>A n.7565C>A c.7469C>A (p.Ser2490Tyr) | |
| 13 | g.32356557C= | CA2082815237 | BRCA2 | c.7565C= (p.Ser2522=) c.7196C= (p.Ser2399=) c.32C= (p.Ser11=) c.130C= n.7565C= c.7469C= (p.Ser2490=) | |
| 13 | g.32356557C>G | CA387743759 | BRCA2 | c.7565C>G (p.Ser2522Cys) c.7196C>G (p.Ser2399Cys) c.32C>G (p.Ser11Cys) c.130C>G n.7565C>G c.7469C>G (p.Ser2490Cys) | |
| 13 | g.32356557C>T | CA025154 | BRCA2 | c.7565C>T (p.Ser2522Phe) c.7196C>T (p.Ser2399Phe) c.32C>T (p.Ser11Phe) c.130C>T n.7565C>T c.7469C>T (p.Ser2490Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356558T>A | CA483260426 | BRCA2 | c.7566T>A (p.Ser2522=) c.7197T>A (p.Ser2399=) c.33T>A (p.Ser11=) c.131T>A n.7566T>A c.7470T>A (p.Ser2490=) | dbSNP |
| 13 | g.32356558T>C | CA483260427 | BRCA2 | c.7566T>C (p.Ser2522=) c.7197T>C (p.Ser2399=) c.33T>C (p.Ser11=) c.131T>C n.7566T>C c.7470T>C (p.Ser2490=) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32356558T>G | CA483260428 | BRCA2 | c.7566T>G (p.Ser2522=) c.7197T>G (p.Ser2399=) c.33T>G (p.Ser11=) c.131T>G n.7566T>G c.7470T>G (p.Ser2490=) | ClinVar |
| 13 | g.32356559C>A | CA387743767 | BRCA2 | c.7567C>A (p.Leu2523Met) c.7198C>A (p.Leu2400Met) c.34C>A (p.Leu12Met) c.132C>A n.7567C>A c.7471C>A (p.Leu2491Met) | |
| 13 | g.32356559C= | CA2082815244 | BRCA2 | c.7567C= (p.Leu2523=) c.7198C= (p.Leu2400=) c.34C= (p.Leu12=) c.132C= n.7567C= c.7471C= (p.Leu2491=) | |
| 13 | g.32356559C>G | CA387743765 | BRCA2 | c.7567C>G (p.Leu2523Val) c.7198C>G (p.Leu2400Val) c.34C>G (p.Leu12Val) c.132C>G n.7567C>G c.7471C>G (p.Leu2491Val) | dbSNP |
| 13 | g.32356559C>T | CA483260429 | BRCA2 | c.7567C>T (p.Leu2523=) c.7198C>T (p.Leu2400=) c.34C>T (p.Leu12=) c.132C>T n.7567C>T c.7471C>T (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356560T>A | CA387743769 | BRCA2 | c.7568T>A (p.Leu2523Gln) c.7199T>A (p.Leu2400Gln) c.35T>A (p.Leu12Gln) c.133T>A n.7568T>A c.7472T>A (p.Leu2491Gln) | dbSNP |
| 13 | g.32356560T>C | CA16619765 | BRCA2 | c.7568T>C (p.Leu2523Pro) c.7199T>C (p.Leu2400Pro) c.35T>C (p.Leu12Pro) c.133T>C n.7568T>C c.7472T>C (p.Leu2491Pro) | ClinVar dbSNP |
| 13 | g.32356560T>G | CA387743772 | BRCA2 | c.7568T>G (p.Leu2523Arg) c.7199T>G (p.Leu2400Arg) c.35T>G (p.Leu12Arg) c.133T>G n.7568T>G c.7472T>G (p.Leu2491Arg) | |
| 13 | g.32356560T= | CA2082815254 | BRCA2 | c.7568T= (p.Leu2523=) c.7199T= (p.Leu2400=) c.35T= (p.Leu12=) c.133T= n.7568T= c.7472T= (p.Leu2491=) | |
| 13 | g.32356560dup | CA913189209 | BRCA2 | c.7568dup (p.Lys2524GlufsTer15) c.7199dup (p.Lys2401GlufsTer15) c.35dup (p.Lys13GlufsTer15) c.133dup n.7568dup c.7472dup (p.Lys2492GlufsTer15) | ClinVar dbSNP |
| 13 | g.32356561G>A | CA025158 | BRCA2 | c.7569G>A (p.Leu2523=) c.7200G>A (p.Leu2400=) c.36G>A (p.Leu12=) c.134G>A n.7569G>A c.7473G>A (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356561G>C | CA483260430 | BRCA2 | c.7569G>C (p.Leu2523=) c.7200G>C (p.Leu2400=) c.36G>C (p.Leu12=) c.134G>C n.7569G>C c.7473G>C (p.Leu2491=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356561G= | CA2082815264 | BRCA2 | c.7569G= (p.Leu2523=) c.7200G= (p.Leu2400=) c.36G= (p.Leu12=) c.134G= n.7569G= c.7473G= (p.Leu2491=) | |
| 13 | g.32356561G>T | CA483260431 | BRCA2 | c.7569G>T (p.Leu2523=) c.7200G>T (p.Leu2400=) c.36G>T (p.Leu12=) c.134G>T n.7569G>T c.7473G>T (p.Leu2491=) | |
| 13 | g.32356562A= | CA2082815277 | BRCA2 | c.7570A= (p.Lys2524=) c.7201A= (p.Lys2401=) c.37A= (p.Lys13=) c.135A= n.7570A= c.7474A= (p.Lys2492=) | |
| 13 | g.32356562A>C | CA387743781 | BRCA2 | c.7570A>C (p.Lys2524Gln) c.7201A>C (p.Lys2401Gln) c.37A>C (p.Lys13Gln) c.135A>C n.7570A>C c.7474A>C (p.Lys2492Gln) | |
| 13 | g.32356562A>G | CA387743776 | BRCA2 | c.7570A>G (p.Lys2524Glu) c.7201A>G (p.Lys2401Glu) c.37A>G (p.Lys13Glu) c.135A>G n.7570A>G c.7474A>G (p.Lys2492Glu) | ClinVar dbSNP |
| 13 | g.32356562A>T | CA387743779 | BRCA2 | c.7570A>T (p.Lys2524Ter) c.7201A>T (p.Lys2401Ter) c.37A>T (p.Lys13Ter) c.135A>T n.7570A>T c.7474A>T (p.Lys2492Ter) | ClinVar dbSNP |
| 13 | g.32356564dup | CA915946871 | BRCA2 | c.7572dup (p.Ala2525SerfsTer14) c.7203dup (p.Ala2402SerfsTer14) c.39dup (p.Ala14SerfsTer14) c.137dup n.7572dup c.7476dup (p.Ala2493SerfsTer14) | ClinVar dbSNP |
| 13 | g.32356563A>C | CA387743783 | BRCA2 | c.7571A>C (p.Lys2524Thr) c.7202A>C (p.Lys2401Thr) c.38A>C (p.Lys13Thr) c.136A>C n.7571A>C c.7475A>C (p.Lys2492Thr) | |
| 13 | g.32356563A>G | CA387743784 | BRCA2 | c.7571A>G (p.Lys2524Arg) c.7202A>G (p.Lys2401Arg) c.38A>G (p.Lys13Arg) c.136A>G n.7571A>G c.7475A>G (p.Lys2492Arg) | COSMIC COSMIC |
| 13 | g.32356563A>T | CA387743787 | BRCA2 | c.7571A>T (p.Lys2524Ile) c.7202A>T (p.Lys2401Ile) c.38A>T (p.Lys13Ile) c.136A>T n.7571A>T c.7475A>T (p.Lys2492Ile) | dbSNP |
| 13 | g.32356564A>C | CA387743790 | BRCA2 | c.7572A>C (p.Lys2524Asn) c.7203A>C (p.Lys2401Asn) c.39A>C (p.Lys13Asn) c.137A>C n.7572A>C c.7476A>C (p.Lys2492Asn) | |
| 13 | g.32356564A>G | CA483260432 | BRCA2 | c.7572A>G (p.Lys2524=) c.7203A>G (p.Lys2401=) c.39A>G (p.Lys13=) c.137A>G n.7572A>G c.7476A>G (p.Lys2492=) | |
| 13 | g.32356564A>T | CA387743792 | BRCA2 | c.7572A>T (p.Lys2524Asn) c.7203A>T (p.Lys2401Asn) c.39A>T (p.Lys13Asn) c.137A>T n.7572A>T c.7476A>T (p.Lys2492Asn) | ClinVar dbSNP |
| 13 | g.32356565G>A | CA025160 | BRCA2 | c.7573G>A (p.Ala2525Thr) c.7204G>A (p.Ala2402Thr) c.40G>A (p.Ala14Thr) c.138G>A n.7573G>A c.7477G>A (p.Ala2493Thr) | ClinVar dbSNP |
| 13 | g.32356565G>C | CA387743799 | BRCA2 | c.7573G>C (p.Ala2525Pro) c.7204G>C (p.Ala2402Pro) c.40G>C (p.Ala14Pro) c.138G>C n.7573G>C c.7477G>C (p.Ala2493Pro) | ClinVar dbSNP |
| 13 | g.32356565G= | CA2082815291 | BRCA2 | c.7573G= (p.Ala2525=) c.7204G= (p.Ala2402=) c.40G= (p.Ala14=) c.138G= n.7573G= c.7477G= (p.Ala2493=) | |
| 13 | g.32356565G>T | CA387743796 | BRCA2 | c.7573G>T (p.Ala2525Ser) c.7204G>T (p.Ala2402Ser) c.40G>T (p.Ala14Ser) c.138G>T n.7573G>T c.7477G>T (p.Ala2493Ser) | |
| 13 | g.32356565_32356566del | CA2499222296 | BRCA2 | c.7573_7574del (p.Ala2525SerfsTer13) c.7204_7205del (p.Ala2402SerfsTer13) c.40_41del (p.Ala14SerfsTer13) c.138_139del n.7573_7574del c.7477_7478del (p.Ala2493SerfsTer13) | |
| 13 | g.32356566C>A | CA387743801 | BRCA2 | c.7574C>A (p.Ala2525Glu) c.7205C>A (p.Ala2402Glu) c.41C>A (p.Ala14Glu) c.139C>A n.7574C>A c.7478C>A (p.Ala2493Glu) | |
| 13 | g.32356566C>G | CA387743802 | BRCA2 | c.7574C>G (p.Ala2525Gly) c.7205C>G (p.Ala2402Gly) c.41C>G (p.Ala14Gly) c.139C>G n.7574C>G c.7478C>G (p.Ala2493Gly) | |
| 13 | g.32356566C>T | CA387743804 | BRCA2 | c.7574C>T (p.Ala2525Val) c.7205C>T (p.Ala2402Val) c.41C>T (p.Ala14Val) c.139C>T n.7574C>T c.7478C>T (p.Ala2493Val) | |
| 13 | g.32356566_32356567delinsCA | CA2082815294 | BRCA2 | c.7574_7575delinsCA (p.Ala2525=) c.7205_7206delinsCA (p.Ala2402=) c.41_42delinsCA (p.Ala14=) c.139_140delinsCA n.7574_7575delinsCA c.7478_7479delinsCA (p.Ala2493=) | |
| 13 | g.32356567del | CA10576071 | BRCA2 | c.7575del (p.Ala2526GlnfsTer2) c.7206del (p.Ala2403GlnfsTer2) c.42del (p.Ala15GlnfsTer2) c.140del n.7575del c.7479del (p.Ala2494GlnfsTer2) | ClinVar dbSNP |
| 13 | g.32356567A>C | CA483260435 | BRCA2 | c.7575A>C (p.Ala2525=) c.7206A>C (p.Ala2402=) c.42A>C (p.Ala14=) c.140A>C n.7575A>C c.7479A>C (p.Ala2493=) | |
| 13 | g.32356567A>G | CA483260434 | BRCA2 | c.7575A>G (p.Ala2525=) c.7206A>G (p.Ala2402=) c.42A>G (p.Ala14=) c.140A>G n.7575A>G c.7479A>G (p.Ala2493=) | |
| 13 | g.32356567A>T | CA483260433 | BRCA2 | c.7575A>T (p.Ala2525=) c.7206A>T (p.Ala2402=) c.42A>T (p.Ala14=) c.140A>T n.7575A>T c.7479A>T (p.Ala2493=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356568G>A | CA387743810 | BRCA2 | c.7576G>A (p.Ala2526Thr) c.7207G>A (p.Ala2403Thr) c.43G>A (p.Ala15Thr) c.141G>A n.7576G>A c.7480G>A (p.Ala2494Thr) | ClinVar dbSNP |
| 13 | g.32356568G>C | CA387743812 | BRCA2 | c.7576G>C (p.Ala2526Pro) c.7207G>C (p.Ala2403Pro) c.43G>C (p.Ala15Pro) c.141G>C n.7576G>C c.7480G>C (p.Ala2494Pro) | dbSNP |
| 13 | g.32356568G= | CA2082815304 | BRCA2 | c.7576G= (p.Ala2526=) c.7207G= (p.Ala2403=) c.43G= (p.Ala15=) c.141G= n.7576G= c.7480G= (p.Ala2494=) | |
| 13 | g.32356568G>T | CA387743814 | BRCA2 | c.7576G>T (p.Ala2526Ser) c.7207G>T (p.Ala2403Ser) c.43G>T (p.Ala15Ser) c.141G>T n.7576G>T c.7480G>T (p.Ala2494Ser) | |
| 13 | g.32356569C>A | CA387743815 | BRCA2 | c.7577C>A (p.Ala2526Glu) c.7208C>A (p.Ala2403Glu) c.44C>A (p.Ala15Glu) c.142C>A n.7577C>A c.7481C>A (p.Ala2494Glu) | dbSNP |
| 13 | g.32356569C= | CA2082815312 | BRCA2 | c.7577C= (p.Ala2526=) c.7208C= (p.Ala2403=) c.44C= (p.Ala15=) c.142C= n.7577C= c.7481C= (p.Ala2494=) | |
| 13 | g.32356569C>G | CA387743818 | BRCA2 | c.7577C>G (p.Ala2526Gly) c.7208C>G (p.Ala2403Gly) c.44C>G (p.Ala15Gly) c.142C>G n.7577C>G c.7481C>G (p.Ala2494Gly) | ClinVar dbSNP |
| 13 | g.32356569C>T | CA387743820 | BRCA2 | c.7577C>T (p.Ala2526Val) c.7208C>T (p.Ala2403Val) c.44C>T (p.Ala15Val) c.142C>T n.7577C>T c.7481C>T (p.Ala2494Val) | ClinVar dbSNP |
| 13 | g.32356569_32356571delinsCAG | CA2082815314 | BRCA2 | c.7577_7579delinsCAG (p.Ala2526=) c.7208_7210delinsCAG (p.Ala2403=) c.44_46delinsCAG (p.Ala15=) c.142_144delinsCAG n.7577_7579delinsCAG c.7481_7483delinsCAG (p.Ala2494=) | |
| 13 | g.32356569_32356572del | CA2622571688 | BRCA2 | c.7577_7580del (p.Ala2526GlufsTer24) c.7208_7211del (p.Ala2403GlufsTer24) c.44_47del (p.Ala15GlufsTer24) c.142_145del n.7577_7580del c.7481_7484del (p.Ala2494GlufsTer24) | gnomAD v4 |
| 13 | g.32356569_32356575delinsAGGA | CA2695217911 | BRCA2 | c.7577_7583delinsAGGA (p.Ala2526_Gly2528delinsGluGlu) c.7208_7214delinsAGGA (p.Ala2403_Gly2405delinsGluGlu) c.44_50delinsAGGA (p.Ala15_Gly17delinsGluGlu) c.142_148delinsAGGA n.7577_7583delinsAGGA c.7481_7487delinsAGGA (p.Ala2494_Gly2496delinsGluGlu) | |
| 13 | g.32356570A= | CA2082815321 | BRCA2 | c.7578A= (p.Ala2526=) c.7209A= (p.Ala2403=) c.45A= (p.Ala15=) c.143A= n.7578A= c.7482A= (p.Ala2494=) | |
| 13 | g.32356570A>C | CA483260438 | BRCA2 | c.7578A>C (p.Ala2526=) c.7209A>C (p.Ala2403=) c.45A>C (p.Ala15=) c.143A>C n.7578A>C c.7482A>C (p.Ala2494=) | |
| 13 | g.32356570A>G | CA483260437 | BRCA2 | c.7578A>G (p.Ala2526=) c.7209A>G (p.Ala2403=) c.45A>G (p.Ala15=) c.143A>G n.7578A>G c.7482A>G (p.Ala2494=) | ClinVar gnomAD v4 |
| 13 | g.32356570A>T | CA483260436 | BRCA2 | c.7578A>T (p.Ala2526=) c.7209A>T (p.Ala2403=) c.45A>T (p.Ala15=) c.143A>T n.7578A>T c.7482A>T (p.Ala2494=) | |
| 13 | g.32356570_32356571del | CA1139663193 | BRCA2 | c.7578_7579del (p.Val2527ArgfsTer11) c.7209_7210del (p.Val2404ArgfsTer11) c.45_46del (p.Val16ArgfsTer11) c.143_144del n.7578_7579del c.7482_7483del (p.Val2495ArgfsTer11) | ClinVar dbSNP |
| 13 | g.32356570_32356571delinsAG | CA2082815318 | BRCA2 | c.7578_7579delinsAG (p.Ala2526=) c.7209_7210delinsAG (p.Ala2403=) c.45_46delinsAG (p.Ala15=) c.143_144delinsAG n.7578_7579delinsAG c.7482_7483delinsAG (p.Ala2494=) | |
| 13 | g.32356572_32356574del | CA2573149395 | BRCA2 | c.7580_7582del (p.Val2527del) c.7211_7213del (p.Val2404del) c.47_49del (p.Val16del) c.145_147del n.7580_7582del c.7484_7486del (p.Val2495del) | ClinVar dbSNP |
| 13 | g.32356571del | CA658683852 | BRCA2 | c.7579del (p.Val2527Ter) c.7210del (p.Val2404Ter) c.46del (p.Val16Ter) c.144del n.7579del c.7483del (p.Val2495Ter) | ClinVar dbSNP |
| 13 | g.32356571G>A | CA387743822 | BRCA2 | c.7579G>A (p.Val2527Ile) c.7210G>A (p.Val2404Ile) c.46G>A (p.Val16Ile) c.144G>A n.7579G>A c.7483G>A (p.Val2495Ile) | ClinVar dbSNP |
| 13 | g.32356571G>C | CA387743827 | BRCA2 | c.7579G>C (p.Val2527Leu) c.7210G>C (p.Val2404Leu) c.46G>C (p.Val16Leu) c.144G>C n.7579G>C c.7483G>C (p.Val2495Leu) | dbSNP |
| 13 | g.32356571G= | CA2082815340 | BRCA2 | c.7579G= (p.Val2527=) c.7210G= (p.Val2404=) c.46G= (p.Val16=) c.144G= n.7579G= c.7483G= (p.Val2495=) | |
| 13 | g.32356571G>T | CA387743824 | BRCA2 | c.7579G>T (p.Val2527Leu) c.7210G>T (p.Val2404Leu) c.46G>T (p.Val16Leu) c.144G>T n.7579G>T c.7483G>T (p.Val2495Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356572_32356575dup | CA658656436 | BRCA2 | c.7580_7583dup (p.Gly2529ArgfsTer11) c.7211_7214dup (p.Gly2406ArgfsTer11) c.47_50dup (p.Gly18ArgfsTer11) c.145_148dup n.7580_7583dup c.7484_7487dup (p.Gly2497ArgfsTer11) | ClinVar dbSNP |
| 13 | g.32356572T>A | CA387743828 | BRCA2 | c.7580T>A (p.Val2527Glu) c.7211T>A (p.Val2404Glu) c.47T>A (p.Val16Glu) c.145T>A n.7580T>A c.7484T>A (p.Val2495Glu) | dbSNP |
| 13 | g.32356572T>C | CA025161 | BRCA2 | c.7580T>C (p.Val2527Ala) c.7211T>C (p.Val2404Ala) c.47T>C (p.Val16Ala) c.145T>C n.7580T>C c.7484T>C (p.Val2495Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356572T>G | CA387743833 | BRCA2 | c.7580T>G (p.Val2527Gly) c.7211T>G (p.Val2404Gly) c.47T>G (p.Val16Gly) c.145T>G n.7580T>G c.7484T>G (p.Val2495Gly) | |
| 13 | g.32356572T= | CA2082815355 | BRCA2 | c.7580T= (p.Val2527=) c.7211T= (p.Val2404=) c.47T= (p.Val16=) c.145T= n.7580T= c.7484T= (p.Val2495=) | |
| 13 | g.32356572dup | CA645372940 | BRCA2 | c.7580dup (p.Gly2528ArgfsTer11) c.7211dup (p.Gly2405ArgfsTer11) c.47dup (p.Gly17ArgfsTer11) c.145dup n.7580dup c.7484dup (p.Gly2496ArgfsTer11) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356573A= | CA2082815365 | BRCA2 | c.7581A= (p.Val2527=) c.7212A= (p.Val2404=) c.48A= (p.Val16=) c.146A= n.7581A= c.7485A= (p.Val2495=) | |
| 13 | g.32356573A>C | CA483260441 | BRCA2 | c.7581A>C (p.Val2527=) c.7212A>C (p.Val2404=) c.48A>C (p.Val16=) c.146A>C n.7581A>C c.7485A>C (p.Val2495=) | |
| 13 | g.32356573A>G | CA483260440 | BRCA2 | c.7581A>G (p.Val2527=) c.7212A>G (p.Val2404=) c.48A>G (p.Val16=) c.146A>G n.7581A>G c.7485A>G (p.Val2495=) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32356573A>T | CA483260439 | BRCA2 | c.7581A>T (p.Val2527=) c.7212A>T (p.Val2404=) c.48A>T (p.Val16=) c.146A>T n.7581A>T c.7485A>T (p.Val2495=) | |
| 13 | g.32356576_32356578del | CA2573130315 | BRCA2 | c.7584_7586del (p.Gly2529del) c.7215_7217del (p.Gly2406del) c.51_53del (p.Gly18del) c.149_151del n.7584_7586del c.7488_7490del (p.Gly2497del) | ClinVar dbSNP |
| 13 | g.32356574G>A | CA387743837 | BRCA2 | c.7582G>A (p.Gly2528Arg) c.7213G>A (p.Gly2405Arg) c.49G>A (p.Gly17Arg) c.147G>A n.7582G>A c.7486G>A (p.Gly2496Arg) | ClinVar dbSNP |
| 13 | g.32356574G>C | CA387743839 | BRCA2 | c.7582G>C (p.Gly2528Arg) c.7213G>C (p.Gly2405Arg) c.49G>C (p.Gly17Arg) c.147G>C n.7582G>C c.7486G>C (p.Gly2496Arg) | dbSNP |
| 13 | g.32356574G= | CA2082815368 | BRCA2 | c.7582G= (p.Gly2528=) c.7213G= (p.Gly2405=) c.49G= (p.Gly17=) c.147G= n.7582G= c.7486G= (p.Gly2496=) | |
| 13 | g.32356574G>T | CA387743842 | BRCA2 | c.7582G>T (p.Gly2528Ter) c.7213G>T (p.Gly2405Ter) c.49G>T (p.Gly17Ter) c.147G>T n.7582G>T c.7486G>T (p.Gly2496Ter) | |
| 13 | g.32356574_32356575insA | CA2622571701 | BRCA2 | c.7582_7583insA (p.Gly2528GlufsTer11) c.7213_7214insA (p.Gly2405GlufsTer11) c.49_50insA (p.Gly17GlufsTer11) c.147_148insA n.7582_7583insA c.7486_7487insA (p.Gly2496GlufsTer11) | gnomAD v4 |
| 13 | g.32356575G>A | CA025162 | BRCA2 | c.7583G>A (p.Gly2528Glu) c.7214G>A (p.Gly2405Glu) c.50G>A (p.Gly17Glu) c.148G>A n.7583G>A c.7487G>A (p.Gly2496Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356575G>C | CA387743846 | BRCA2 | c.7583G>C (p.Gly2528Ala) c.7214G>C (p.Gly2405Ala) c.50G>C (p.Gly17Ala) c.148G>C n.7583G>C c.7487G>C (p.Gly2496Ala) | dbSNP |
| 13 | g.32356575G= | CA2082815372 | BRCA2 | c.7583G= (p.Gly2528=) c.7214G= (p.Gly2405=) c.50G= (p.Gly17=) c.148G= n.7583G= c.7487G= (p.Gly2496=) | |
| 13 | g.32356575G>T | CA387743848 | BRCA2 | c.7583G>T (p.Gly2528Val) c.7214G>T (p.Gly2405Val) c.50G>T (p.Gly17Val) c.148G>T n.7583G>T c.7487G>T (p.Gly2496Val) | |
| 13 | g.32356576A>C | CA483260444 | BRCA2 | c.7584A>C (p.Gly2528=) c.7215A>C (p.Gly2405=) c.51A>C (p.Gly17=) c.149A>C n.7584A>C c.7488A>C (p.Gly2496=) | |
| 13 | g.32356576A>G | CA483260442 | BRCA2 | c.7584A>G (p.Gly2528=) c.7215A>G (p.Gly2405=) c.51A>G (p.Gly17=) c.149A>G n.7584A>G c.7488A>G (p.Gly2496=) | |
| 13 | g.32356576A>T | CA483260443 | BRCA2 | c.7584A>T (p.Gly2528=) c.7215A>T (p.Gly2405=) c.51A>T (p.Gly17=) c.149A>T n.7584A>T c.7488A>T (p.Gly2496=) | dbSNP |
| 13 | g.32356576_32356577delinsAG | CA2082815376 | BRCA2 | c.7584_7585delinsAG (p.Gly2528=) c.7215_7216delinsAG (p.Gly2405=) c.51_52delinsAG (p.Gly17=) c.149_150delinsAG n.7584_7585delinsAG c.7488_7489delinsAG (p.Gly2496=) | |
| 13 | g.32356577G>A | CA025163 | BRCA2 | c.7585G>A (p.Gly2529Ser) c.7216G>A (p.Gly2406Ser) c.52G>A (p.Gly18Ser) c.150G>A n.7585G>A c.7489G>A (p.Gly2497Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356577G>C | CA387743854 | BRCA2 | c.7585G>C (p.Gly2529Arg) c.7216G>C (p.Gly2406Arg) c.52G>C (p.Gly18Arg) c.150G>C n.7585G>C c.7489G>C (p.Gly2497Arg) | ClinVar dbSNP |
| 13 | g.32356577G= | CA2082815382 | BRCA2 | c.7585G= (p.Gly2529=) c.7216G= (p.Gly2406=) c.52G= (p.Gly18=) c.150G= n.7585G= c.7489G= (p.Gly2497=) | |
| 13 | g.32356577G>T | CA387743857 | BRCA2 | c.7585G>T (p.Gly2529Cys) c.7216G>T (p.Gly2406Cys) c.52G>T (p.Gly18Cys) c.150G>T n.7585G>T c.7489G>T (p.Gly2497Cys) | dbSNP |
| 13 | g.32356578del | CA1139663194 | BRCA2 | c.7586del (p.Gly2529AlafsTer22) c.7217del (p.Gly2406AlafsTer22) c.53del (p.Gly18AlafsTer22) c.151del n.7586del c.7490del (p.Gly2497AlafsTer22) | ClinVar dbSNP |
| 13 | g.32356578G>A | CA387743860 | BRCA2 | c.7586G>A (p.Gly2529Asp) c.7217G>A (p.Gly2406Asp) c.53G>A (p.Gly18Asp) c.151G>A n.7586G>A c.7490G>A (p.Gly2497Asp) | |
| 13 | g.32356578G>C | CA387743863 | BRCA2 | c.7586G>C (p.Gly2529Ala) c.7217G>C (p.Gly2406Ala) c.53G>C (p.Gly18Ala) c.151G>C n.7586G>C c.7490G>C (p.Gly2497Ala) | |
| 13 | g.32356578G>T | CA387743862 | BRCA2 | c.7586G>T (p.Gly2529Val) c.7217G>T (p.Gly2406Val) c.53G>T (p.Gly18Val) c.151G>T n.7586G>T c.7490G>T (p.Gly2497Val) | |
| 13 | g.32356578_32356579delinsGC | CA2082815387 | BRCA2 | c.7586_7587delinsGC (p.Gly2529=) c.7217_7218delinsGC (p.Gly2406=) c.53_54delinsGC (p.Gly18=) c.151_152delinsGC n.7586_7587delinsGC c.7490_7491delinsGC (p.Gly2497=) | |
| 13 | g.32356579C>A | CA483260447 | BRCA2 | c.7587C>A (p.Gly2529=) c.7218C>A (p.Gly2406=) c.54C>A (p.Gly18=) c.152C>A n.7587C>A c.7491C>A (p.Gly2497=) | dbSNP |
| 13 | g.32356579C>G | CA483260448 | BRCA2 | c.7587C>G (p.Gly2529=) c.7218C>G (p.Gly2406=) c.54C>G (p.Gly18=) c.152C>G n.7587C>G c.7491C>G (p.Gly2497=) | dbSNP |
| 13 | g.32356579C>T | CA483260449 | BRCA2 | c.7587C>T (p.Gly2529=) c.7218C>T (p.Gly2406=) c.54C>T (p.Gly18=) c.152C>T n.7587C>T c.7491C>T (p.Gly2497=) | ClinVar dbSNP |
| 13 | g.32356580del | CA025164 | BRCA2 | c.7588del (p.Gln2530LysfsTer21) c.7219del (p.Gln2407LysfsTer21) c.55del (p.Gln19LysfsTer21) c.153del n.7588del c.7492del (p.Gln2498LysfsTer21) | ClinVar dbSNP |
| 13 | g.32356580C>A | CA387743867 | BRCA2 | c.7588C>A (p.Gln2530Lys) c.7219C>A (p.Gln2407Lys) c.55C>A (p.Gln19Lys) c.153C>A n.7588C>A c.7492C>A (p.Gln2498Lys) | |
| 13 | g.32356580C>G | CA387743870 | BRCA2 | c.7588C>G (p.Gln2530Glu) c.7219C>G (p.Gln2407Glu) c.55C>G (p.Gln19Glu) c.153C>G n.7588C>G c.7492C>G (p.Gln2498Glu) | |
| 13 | g.32356580C>T | CA387743872 | BRCA2 | c.7588C>T (p.Gln2530Ter) c.7219C>T (p.Gln2407Ter) c.55C>T (p.Gln19Ter) c.153C>T n.7588C>T c.7492C>T (p.Gln2498Ter) | ClinVar gnomAD v4 |
| 13 | g.32356581A= | CA2082815395 | BRCA2 | c.7589A= (p.Gln2530=) c.7220A= (p.Gln2407=) c.56A= (p.Gln19=) c.154A= n.7589A= c.7493A= (p.Gln2498=) | |
| 13 | g.32356581A>C | CA387743874 | BRCA2 | c.7589A>C (p.Gln2530Pro) c.7220A>C (p.Gln2407Pro) c.56A>C (p.Gln19Pro) c.154A>C n.7589A>C c.7493A>C (p.Gln2498Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356581A>G | CA387743876 | BRCA2 | c.7589A>G (p.Gln2530Arg) c.7220A>G (p.Gln2407Arg) c.56A>G (p.Gln19Arg) c.154A>G n.7589A>G c.7493A>G (p.Gln2498Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356581A>T | CA387743878 | BRCA2 | c.7589A>T (p.Gln2530Leu) c.7220A>T (p.Gln2407Leu) c.56A>T (p.Gln19Leu) c.154A>T n.7589A>T c.7493A>T (p.Gln2498Leu) | |
| 13 | g.32356582A= | CA2082815408 | BRCA2 | c.7590A= (p.Gln2530=) c.7221A= (p.Gln2407=) c.57A= (p.Gln19=) c.155A= n.7590A= c.7494A= (p.Gln2498=) | |
| 13 | g.32356582A>C | CA025165 | BRCA2 | c.7590A>C (p.Gln2530His) c.7221A>C (p.Gln2407His) c.57A>C (p.Gln19His) c.155A>C n.7590A>C c.7494A>C (p.Gln2498His) | ClinVar dbSNP |
| 13 | g.32356582A>G | CA483260450 | BRCA2 | c.7590A>G (p.Gln2530=) c.7221A>G (p.Gln2407=) c.57A>G (p.Gln19=) c.155A>G n.7590A>G c.7494A>G (p.Gln2498=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356582A>T | CA387743883 | BRCA2 | c.7590A>T (p.Gln2530His) c.7221A>T (p.Gln2407His) c.57A>T (p.Gln19His) c.155A>T n.7590A>T c.7494A>T (p.Gln2498His) | ClinVar dbSNP |
| 13 | g.32356583G>A | CA387743888 | BRCA2 | c.7591G>A (p.Val2531Ile) c.7222G>A (p.Val2408Ile) c.58G>A (p.Val20Ile) c.156G>A n.7591G>A c.7495G>A (p.Val2499Ile) | ClinVar dbSNP |
| 13 | g.32356583G>C | CA387743891 | BRCA2 | c.7591G>C (p.Val2531Leu) c.7222G>C (p.Val2408Leu) c.58G>C (p.Val20Leu) c.156G>C n.7591G>C c.7495G>C (p.Val2499Leu) | dbSNP |
| 13 | g.32356583G>T | CA387743886 | BRCA2 | c.7591G>T (p.Val2531Phe) c.7222G>T (p.Val2408Phe) c.58G>T (p.Val20Phe) c.156G>T n.7591G>T c.7495G>T (p.Val2499Phe) | |
| 13 | g.32356583_32356584delinsGT | CA2082815416 | BRCA2 | c.7591_7592delinsGT (p.Val2531=) c.7222_7223delinsGT (p.Val2408=) c.58_59delinsGT (p.Val20=) c.156_157delinsGT n.7591_7592delinsGT c.7495_7496delinsGT (p.Val2499=) | |
| 13 | g.32356583_32356587delinsGTTCC | CA2082815418 | BRCA2 | c.7591_7595delinsGTTCC (p.Val2531=) c.7222_7226delinsGTTCC (p.Val2408=) c.58_62delinsGTTCC (p.Val20=) c.156_160delinsGTTCC n.7591_7595delinsGTTCC c.7495_7499delinsGTTCC (p.Val2499=) | |
| 13 | g.32356584T>A | CA387743899 | BRCA2 | c.7592T>A (p.Val2531Asp) c.7223T>A (p.Val2408Asp) c.59T>A (p.Val20Asp) c.157T>A n.7592T>A c.7496T>A (p.Val2499Asp) | dbSNP |
| 13 | g.32356584T>C | CA387743892 | BRCA2 | c.7592T>C (p.Val2531Ala) c.7223T>C (p.Val2408Ala) c.59T>C (p.Val20Ala) c.157T>C n.7592T>C c.7496T>C (p.Val2499Ala) | |
| 13 | g.32356584T>G | CA387743895 | BRCA2 | c.7592T>G (p.Val2531Gly) c.7223T>G (p.Val2408Gly) c.59T>G (p.Val20Gly) c.157T>G n.7592T>G c.7496T>G (p.Val2499Gly) | |
| 13 | g.32356585del | CA025166 | BRCA2 | c.7593del (p.Ser2533LeufsTer18) c.7224del (p.Ser2410LeufsTer18) c.60del (p.Ser22LeufsTer18) c.158del n.7593del c.7497del (p.Ser2501LeufsTer18) | ClinVar dbSNP |
| 13 | g.32356584_32356587delinsCAGTAGGAGG | CA915946872 | BRCA2 | c.7592_7595delinsCAGTAGGAGG (p.Val2531_Pro2532delinsAlaValGlyGly) c.7223_7226delinsCAGTAGGAGG (p.Val2408_Pro2409delinsAlaValGlyGly) c.59_62delinsCAGTAGGAGG (p.Val20_Pro21delinsAlaValGlyGly) c.157_160delinsCAGTAGGAGG n.7592_7595delinsCAGTAGGAGG c.7496_7499delinsCAGTAGGAGG (p.Val2499_Pro2500delinsAlaValGlyGly) | ClinVar dbSNP |
| 13 | g.32356585T>A | CA483260452 | BRCA2 | c.7593T>A (p.Val2531=) c.7224T>A (p.Val2408=) c.60T>A (p.Val20=) c.158T>A n.7593T>A c.7497T>A (p.Val2499=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356585T>C | CA247470129 | BRCA2 | c.7593T>C (p.Val2531=) c.7224T>C (p.Val2408=) c.60T>C (p.Val20=) c.158T>C n.7593T>C c.7497T>C (p.Val2499=) | dbSNP |
| 13 | g.32356585T>G | CA483260453 | BRCA2 | c.7593T>G (p.Val2531=) c.7224T>G (p.Val2408=) c.60T>G (p.Val20=) c.158T>G n.7593T>G c.7497T>G (p.Val2499=) | |
| 13 | g.32356585T= | CA2018069962 | BRCA2 | c.7593T= (p.Val2531=) c.7224T= (p.Val2408=) c.60T= (p.Val20=) c.158T= n.7593T= c.7497T= (p.Val2499=) | |
| 13 | g.32356586C>A | CA387743902 | BRCA2 | c.7594C>A (p.Pro2532Thr) c.7225C>A (p.Pro2409Thr) c.61C>A (p.Pro21Thr) c.159C>A n.7594C>A c.7498C>A (p.Pro2500Thr) | ClinVar dbSNP |
| 13 | g.32356586C= | CA2082815439 | BRCA2 | c.7594C= (p.Pro2532=) c.7225C= (p.Pro2409=) c.61C= (p.Pro21=) c.159C= n.7594C= c.7498C= (p.Pro2500=) | |
| 13 | g.32356586C>G | CA387743906 | BRCA2 | c.7594C>G (p.Pro2532Ala) c.7225C>G (p.Pro2409Ala) c.61C>G (p.Pro21Ala) c.159C>G n.7594C>G c.7498C>G (p.Pro2500Ala) | ClinVar dbSNP |
| 13 | g.32356586C>T | CA025167 | BRCA2 | c.7594C>T (p.Pro2532Ser) c.7225C>T (p.Pro2409Ser) c.61C>T (p.Pro21Ser) c.159C>T n.7594C>T c.7498C>T (p.Pro2500Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356586_32356600delinsCCCTCTGCGTGTTCT | CA2082815459 | BRCA2 | c.7594_7608delinsCCCTCTGCGTGTTCT (p.Pro2532=) c.7225_7239delinsCCCTCTGCGTGTTCT (p.Pro2409=) c.61_75delinsCCCTCTGCGTGTTCT (p.Pro21=) c.159_173delinsCCCTCTGCGTGTTCT n.7594_7608delinsCCCTCTGCGTGTTCT c.7498_7512delinsCCCTCTGCGTGTTCT (p.Pro2500=) | |
| 13 | g.32356586_32356587insTT | CA658823748 | BRCA2 | c.7594_7595insTT (p.Pro2532LeufsTer20) c.7225_7226insTT (p.Pro2409LeufsTer20) c.61_62insTT (p.Pro21LeufsTer20) c.159_160insTT n.7594_7595insTT c.7498_7499insTT (p.Pro2500LeufsTer20) | ClinVar dbSNP |
| 13 | g.32356587C>A | CA247470136 | BRCA2 | c.7595C>A (p.Pro2532His) c.7226C>A (p.Pro2409His) c.62C>A (p.Pro21His) c.160C>A n.7595C>A c.7499C>A (p.Pro2500His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356587C= | CA2082815481 | BRCA2 | c.7595C= (p.Pro2532=) c.7226C= (p.Pro2409=) c.62C= (p.Pro21=) c.160C= n.7595C= c.7499C= (p.Pro2500=) | |
| 13 | g.32356587C>G | CA387743927 | BRCA2 | c.7595C>G (p.Pro2532Arg) c.7226C>G (p.Pro2409Arg) c.62C>G (p.Pro21Arg) c.160C>G n.7595C>G c.7499C>G (p.Pro2500Arg) | dbSNP |
| 13 | g.32356587C>T | CA387743924 | BRCA2 | c.7595C>T (p.Pro2532Leu) c.7226C>T (p.Pro2409Leu) c.62C>T (p.Pro21Leu) c.160C>T n.7595C>T c.7499C>T (p.Pro2500Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32356588_32356601del | CA025169 | BRCA2 | c.7596_7609del (p.Ser2533Ter) c.7227_7240del (p.Ser2410Ter) c.63_76del (p.Ser22Ter) c.161_174del n.7596_7609del c.7500_7513del (p.Ser2501Ter) | ClinVar dbSNP |
| 13 | g.32356587_32356588insTT | CA025168 | BRCA2 | c.7595_7596insTT (p.Ala2534LeufsTer18) c.7226_7227insTT (p.Ala2411LeufsTer18) c.62_63insTT (p.Ala23LeufsTer18) c.160_161insTT n.7595_7596insTT c.7499_7500insTT (p.Ala2502LeufsTer18) | ClinVar dbSNP |
| 13 | g.32356587_32356588insAGTAGGAGG | CA2573149397 | BRCA2 | c.7595_7596insAGTAGGAGG (p.Pro2532_Ser2533insValGlyGly) c.7226_7227insAGTAGGAGG (p.Pro2409_Ser2410insValGlyGly) c.62_63insAGTAGGAGG (p.Pro21_Ser22insValGlyGly) c.160_161insAGTAGGAGG n.7595_7596insAGTAGGAGG c.7499_7500insAGTAGGAGG (p.Pro2500_Ser2501insValGlyGly) | dbSNP |
| 13 | g.32356588C>A | CA483260454 | BRCA2 | c.7596C>A (p.Pro2532=) c.7227C>A (p.Pro2409=) c.63C>A (p.Pro21=) c.161C>A n.7596C>A c.7500C>A (p.Pro2500=) | ClinVar dbSNP |
| 13 | g.32356588C= | CA2082815550 | BRCA2 | c.7596C= (p.Pro2532=) c.7227C= (p.Pro2409=) c.63C= (p.Pro21=) c.161C= n.7596C= c.7500C= (p.Pro2500=) | |
| 13 | g.32356588C>G | CA025170 | BRCA2 | c.7596C>G (p.Pro2532=) c.7227C>G (p.Pro2409=) c.63C>G (p.Pro21=) c.161C>G n.7596C>G c.7500C>G (p.Pro2500=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356588C>T | CA025171 | BRCA2 | c.7596C>T (p.Pro2532=) c.7227C>T (p.Pro2409=) c.63C>T (p.Pro21=) c.161C>T n.7596C>T c.7500C>T (p.Pro2500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356588_32356871delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA | CA2082815558 | BRCA2 | c.7596_7617+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.7227_7248+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.63_84+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.161_182+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA n.7596_7617+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA c.7500_7521+262delinsCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA | |
| 13 | g.32356589T>A | CA387743933 | BRCA2 | c.7597T>A (p.Ser2533Thr) c.7228T>A (p.Ser2410Thr) c.64T>A (p.Ser22Thr) c.162T>A n.7597T>A c.7501T>A (p.Ser2501Thr) | ClinVar dbSNP |
| 13 | g.32356589T>C | CA387743938 | BRCA2 | c.7597T>C (p.Ser2533Pro) c.7228T>C (p.Ser2410Pro) c.64T>C (p.Ser22Pro) c.162T>C n.7597T>C c.7501T>C (p.Ser2501Pro) | ClinVar dbSNP |
| 13 | g.32356589T>G | CA025172 | BRCA2 | c.7597T>G (p.Ser2533Ala) c.7228T>G (p.Ser2410Ala) c.64T>G (p.Ser22Ala) c.162T>G n.7597T>G c.7501T>G (p.Ser2501Ala) | ClinVar dbSNP |
| 13 | g.32356589T= | CA2082815567 | BRCA2 | c.7597T= (p.Ser2533=) c.7228T= (p.Ser2410=) c.64T= (p.Ser22=) c.162T= n.7597T= c.7501T= (p.Ser2501=) | |
| 13 | g.32356590_32356872del | CA10586327 | BRCA2 | c.7598_7617+263del c.7229_7248+263del c.65_84+263del c.163_182+263del n.7598_7617+263del c.7502_7521+263del | ClinVar dbSNP |
| 13 | g.32356590C>A | CA387743941 | BRCA2 | c.7598C>A (p.Ser2533Tyr) c.7229C>A (p.Ser2410Tyr) c.65C>A (p.Ser22Tyr) c.163C>A n.7598C>A c.7502C>A (p.Ser2501Tyr) | dbSNP |
| 13 | g.32356590C= | CA2082815574 | BRCA2 | c.7598C= (p.Ser2533=) c.7229C= (p.Ser2410=) c.65C= (p.Ser22=) c.163C= n.7598C= c.7502C= (p.Ser2501=) | |
| 13 | g.32356590C>G | CA025173 | BRCA2 | c.7598C>G (p.Ser2533Cys) c.7229C>G (p.Ser2410Cys) c.65C>G (p.Ser22Cys) c.163C>G n.7598C>G c.7502C>G (p.Ser2501Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356590C>T | CA387743945 | BRCA2 | c.7598C>T (p.Ser2533Phe) c.7229C>T (p.Ser2410Phe) c.65C>T (p.Ser22Phe) c.163C>T n.7598C>T c.7502C>T (p.Ser2501Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356591T>A | CA483260462 | BRCA2 | c.7599T>A (p.Ser2533=) c.7230T>A (p.Ser2410=) c.66T>A (p.Ser22=) c.164T>A n.7599T>A c.7503T>A (p.Ser2501=) | dbSNP |
| 13 | g.32356591T>C | CA483260455 | BRCA2 | c.7599T>C (p.Ser2533=) c.7230T>C (p.Ser2410=) c.66T>C (p.Ser22=) c.164T>C n.7599T>C c.7503T>C (p.Ser2501=) | ClinVar dbSNP |
| 13 | g.32356591T>G | CA483260456 | BRCA2 | c.7599T>G (p.Ser2533=) c.7230T>G (p.Ser2410=) c.66T>G (p.Ser22=) c.164T>G n.7599T>G c.7503T>G (p.Ser2501=) | |
| 13 | g.32356591T= | CA2082815581 | BRCA2 | c.7599T= (p.Ser2533=) c.7230T= (p.Ser2410=) c.66T= (p.Ser22=) c.164T= n.7599T= c.7503T= (p.Ser2501=) | |
| 13 | g.32356592G>A | CA387743948 | BRCA2 | c.7600G>A (p.Ala2534Thr) c.7231G>A (p.Ala2411Thr) c.67G>A (p.Ala23Thr) c.165G>A n.7600G>A c.7504G>A (p.Ala2502Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356592G>C | CA387743949 | BRCA2 | c.7600G>C (p.Ala2534Pro) c.7231G>C (p.Ala2411Pro) c.67G>C (p.Ala23Pro) c.165G>C n.7600G>C c.7504G>C (p.Ala2502Pro) | dbSNP |
| 13 | g.32356592G= | CA2082815587 | BRCA2 | c.7600G= (p.Ala2534=) c.7231G= (p.Ala2411=) c.67G= (p.Ala23=) c.165G= n.7600G= c.7504G= (p.Ala2502=) | |
| 13 | g.32356592G>T | CA387743951 | BRCA2 | c.7600G>T (p.Ala2534Ser) c.7231G>T (p.Ala2411Ser) c.67G>T (p.Ala23Ser) c.165G>T n.7600G>T c.7504G>T (p.Ala2502Ser) | |
| 13 | g.32356593C>A | CA387743953 | BRCA2 | c.7601C>A (p.Ala2534Glu) c.7232C>A (p.Ala2411Glu) c.68C>A (p.Ala23Glu) c.166C>A n.7601C>A c.7505C>A (p.Ala2502Glu) | ClinVar dbSNP |
| 13 | g.32356593C= | CA2082815604 | BRCA2 | c.7601C= (p.Ala2534=) c.7232C= (p.Ala2411=) c.68C= (p.Ala23=) c.166C= n.7601C= c.7505C= (p.Ala2502=) | |
| 13 | g.32356593C>G | CA387743956 | BRCA2 | c.7601C>G (p.Ala2534Gly) c.7232C>G (p.Ala2411Gly) c.68C>G (p.Ala23Gly) c.166C>G n.7601C>G c.7505C>G (p.Ala2502Gly) | ClinVar dbSNP |
| 13 | g.32356593C>T | CA025174 | BRCA2 | c.7601C>T (p.Ala2534Val) c.7232C>T (p.Ala2411Val) c.68C>T (p.Ala23Val) c.166C>T n.7601C>T c.7505C>T (p.Ala2502Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356593_32356594delinsCG | CA2082815595 | BRCA2 | c.7601_7602delinsCG (p.Ala2534=) c.7232_7233delinsCG (p.Ala2411=) c.68_69delinsCG (p.Ala23=) c.166_167delinsCG n.7601_7602delinsCG c.7505_7506delinsCG (p.Ala2502=) | |
| 13 | g.32356593_32356594insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG | CA2549432224 | BRCA2 | c.7601_7602insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser2536TyrfsTer2) c.7232_7233insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser2413TyrfsTer2) c.68_69insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser25TyrfsTer2) c.166_167insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG n.7601_7602insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG c.7505_7506insTTGCTATTGAGCAAGGTTGCTTGATCAGTAAGGATGCCGATATCACG (p.Ser2504TyrfsTer2) | |
| 13 | g.32356594del | CA10579745 | BRCA2 | c.7602del (p.Cys2535ValfsTer16) c.7233del (p.Cys2412ValfsTer16) c.69del (p.Cys24ValfsTer16) c.167del n.7602del c.7506del (p.Cys2503ValfsTer16) | ClinVar dbSNP |
| 13 | g.32356594G>A | CA025175 | BRCA2 | c.7602G>A (p.Ala2534=) c.7233G>A (p.Ala2411=) c.69G>A (p.Ala23=) c.167G>A n.7602G>A c.7506G>A (p.Ala2502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356594G>C | CA025176 | BRCA2 | c.7602G>C (p.Ala2534=) c.7233G>C (p.Ala2411=) c.69G>C (p.Ala23=) c.167G>C n.7602G>C c.7506G>C (p.Ala2502=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356594G= | CA2082815619 | BRCA2 | c.7602G= (p.Ala2534=) c.7233G= (p.Ala2411=) c.69G= (p.Ala23=) c.167G= n.7602G= c.7506G= (p.Ala2502=) | |
| 13 | g.32356594G>T | CA247470176 | BRCA2 | c.7602G>T (p.Ala2534=) c.7233G>T (p.Ala2411=) c.69G>T (p.Ala23=) c.167G>T n.7602G>T c.7506G>T (p.Ala2502=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356595T>A | CA387743964 | BRCA2 | c.7603T>A (p.Cys2535Ser) c.7234T>A (p.Cys2412Ser) c.70T>A (p.Cys24Ser) c.168T>A n.7603T>A c.7507T>A (p.Cys2503Ser) | ClinVar dbSNP |
| 13 | g.32356595T>C | CA387743967 | BRCA2 | c.7603T>C (p.Cys2535Arg) c.7234T>C (p.Cys2412Arg) c.70T>C (p.Cys24Arg) c.168T>C n.7603T>C c.7507T>C (p.Cys2503Arg) | ClinVar dbSNP |
| 13 | g.32356595T>G | CA387743968 | BRCA2 | c.7603T>G (p.Cys2535Gly) c.7234T>G (p.Cys2412Gly) c.70T>G (p.Cys24Gly) c.168T>G n.7603T>G c.7507T>G (p.Cys2503Gly) | |
| 13 | g.32356595T= | CA2082815629 | BRCA2 | c.7603T= (p.Cys2535=) c.7234T= (p.Cys2412=) c.70T= (p.Cys24=) c.168T= n.7603T= c.7507T= (p.Cys2503=) | |
| 13 | g.32356596G>A | CA025177 | BRCA2 | c.7604G>A (p.Cys2535Tyr) c.7235G>A (p.Cys2412Tyr) c.71G>A (p.Cys24Tyr) c.169G>A n.7604G>A c.7508G>A (p.Cys2503Tyr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356596G>C | CA387743971 | BRCA2 | c.7604G>C (p.Cys2535Ser) c.7235G>C (p.Cys2412Ser) c.71G>C (p.Cys24Ser) c.169G>C n.7604G>C c.7508G>C (p.Cys2503Ser) | dbSNP |
| 13 | g.32356596G= | CA2082815636 | BRCA2 | c.7604G= (p.Cys2535=) c.7235G= (p.Cys2412=) c.71G= (p.Cys24=) c.169G= n.7604G= c.7508G= (p.Cys2503=) | |
| 13 | g.32356596G>T | CA387743974 | BRCA2 | c.7604G>T (p.Cys2535Phe) c.7235G>T (p.Cys2412Phe) c.71G>T (p.Cys24Phe) c.169G>T n.7604G>T c.7508G>T (p.Cys2503Phe) | |
| 13 | g.32356596_32356597delinsAG | CA2695217912 | BRCA2 | c.7604_7605delinsAG (p.Cys2535Ter) c.7235_7236delinsAG (p.Cys2412Ter) c.71_72delinsAG (p.Cys24Ter) c.169_170delinsAG n.7604_7605delinsAG c.7508_7509delinsAG (p.Cys2503Ter) |