SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
| 13 | g.32330925A= | CA2082758879 | BRCA2 | c.688A= (p.Lys230=) c.319A= (p.Lys107=) c.*467A= (n.*467A=) n.886A= n.688A= | |
| 13 | g.32330925A>C | CA387759852 | BRCA2 | c.688A>C (p.Lys230Gln) c.319A>C (p.Lys107Gln) c.*467A>C (n.*467A>C) n.886A>C n.688A>C | |
| 13 | g.32330925A>G | CA387759853 | BRCA2 | c.688A>G (p.Lys230Glu) c.319A>G (p.Lys107Glu) c.*467A>G (n.*467A>G) n.886A>G n.688A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330925A>T | CA024542 | BRCA2 | c.688A>T (p.Lys230Ter) c.319A>T (p.Lys107Ter) c.*467A>T (n.*467A>T) n.886A>T n.688A>T | ClinVar dbSNP |
| 13 | g.32330926A>C | CA387759856 | BRCA2 | c.689A>C (p.Lys230Thr) c.320A>C (p.Lys107Thr) c.*468A>C (n.*468A>C) n.887A>C n.689A>C | |
| 13 | g.32330926A>G | CA387759857 | BRCA2 | c.689A>G (p.Lys230Arg) c.320A>G (p.Lys107Arg) c.*468A>G (n.*468A>G) n.887A>G n.689A>G | dbSNP |
| 13 | g.32330926A>T | CA387759859 | BRCA2 | c.689A>T (p.Lys230Ile) c.320A>T (p.Lys107Ile) c.*468A>T (n.*468A>T) n.887A>T n.689A>T | |
| 13 | g.32330927A= | CA2082758885 | BRCA2 | c.690A= (p.Lys230=) c.321A= (p.Lys107=) c.*469A= (n.*469A=) n.888A= n.690A= | |
| 13 | g.32330927A>C | CA387759861 | BRCA2 | c.690A>C (p.Lys230Asn) c.321A>C (p.Lys107Asn) c.*469A>C (n.*469A>C) n.888A>C n.690A>C | |
| 13 | g.32330927A>G | CA483274394 | BRCA2 | c.690A>G (p.Lys230=) c.321A>G (p.Lys107=) c.*469A>G (n.*469A>G) n.888A>G n.690A>G | dbSNP |
| 13 | g.32330927A>T | CA387759863 | BRCA2 | c.690A>T (p.Lys230Asn) c.321A>T (p.Lys107Asn) c.*469A>T (n.*469A>T) n.888A>T n.690A>T | dbSNP |
| 13 | g.32330928A= | CA2082758893 | BRCA2 | c.691A= (p.Ser231=) c.322A= (p.Ser108=) c.*470A= (n.*470A=) n.889A= n.691A= | |
| 13 | g.32330928A>C | CA387759865 | BRCA2 | c.691A>C (p.Ser231Arg) c.322A>C (p.Ser108Arg) c.*470A>C (n.*470A>C) n.889A>C n.691A>C | ClinVar dbSNP |
| 13 | g.32330928A>G | CA387759867 | BRCA2 | c.691A>G (p.Ser231Gly) c.322A>G (p.Ser108Gly) c.*470A>G (n.*470A>G) n.889A>G n.691A>G | |
| 13 | g.32330928A>T | CA387759864 | BRCA2 | c.691A>T (p.Ser231Cys) c.322A>T (p.Ser108Cys) c.*470A>T (n.*470A>T) n.889A>T n.691A>T | |
| 13 | g.32330928_32330929delinsAG | CA2082758896 | BRCA2 | c.691_692delinsAG (p.Ser231=) c.322_323delinsAG (p.Ser108=) c.*470_*471delinsAG (n.*470_*471delinsAG) n.889_890delinsAG n.691_692delinsAG | |
| 13 | g.32330928_32330929delinsGA | CA2082758897 | BRCA2 | c.691_692delinsGA (p.Ser231Asp) c.322_323delinsGA (p.Ser108Asp) c.*470_*471delinsGA (n.*470_*471delinsGA) n.889_890delinsGA n.691_692delinsGA | ClinVar dbSNP |
| 13 | g.32330929G>A | CA16619648 | BRCA2 | c.692G>A (p.Ser231Asn) c.323G>A (p.Ser108Asn) c.*471G>A (n.*471G>A) n.890G>A n.692G>A | ClinVar dbSNP |
| 13 | g.32330929G>C | CA387759870 | BRCA2 | c.692G>C (p.Ser231Thr) c.323G>C (p.Ser108Thr) c.*471G>C (n.*471G>C) n.890G>C n.692G>C | ClinVar dbSNP |
| 13 | g.32330929G= | CA2082758905 | BRCA2 | c.692G= (p.Ser231=) c.323G= (p.Ser108=) c.*471G= (n.*471G=) n.890G= n.692G= | |
| 13 | g.32330929G>T | CA387759872 | BRCA2 | c.692G>T (p.Ser231Ile) c.323G>T (p.Ser108Ile) c.*471G>T (n.*471G>T) n.890G>T n.692G>T | |
| 13 | g.32330929dup | CA913188574 | BRCA2 | c.692dup (p.Ser231ArgfsTer7) c.323dup (p.Ser108ArgfsTer7) c.*471dup (n.*471dup) n.890dup n.692dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330930del | CA2573149302 | BRCA2 | c.693del (p.Tyr232IlefsTer9) c.324del (p.Tyr109IlefsTer9) c.*472del (n.*472del) n.891del n.693del | ClinVar dbSNP |
| 13 | g.32330930C>A | CA387759874 | BRCA2 | c.693C>A (p.Ser231Arg) c.324C>A (p.Ser108Arg) c.*472C>A (n.*472C>A) n.891C>A n.693C>A | ClinVar dbSNP |
| 13 | g.32330930C= | CA2082758915 | BRCA2 | c.693C= (p.Ser231=) c.324C= (p.Ser108=) c.*472C= (n.*472C=) n.891C= n.693C= | |
| 13 | g.32330930C>G | CA387759876 | BRCA2 | c.693C>G (p.Ser231Arg) c.324C>G (p.Ser108Arg) c.*472C>G (n.*472C>G) n.891C>G n.693C>G | ClinVar dbSNP |
| 13 | g.32330930C>T | CA483274396 | BRCA2 | c.693C>T (p.Ser231=) c.324C>T (p.Ser108=) c.*472C>T (n.*472C>T) n.891C>T n.693C>T | dbSNP |
| 13 | g.32330931T>A | CA387759878 | BRCA2 | c.694T>A (p.Tyr232Asn) c.325T>A (p.Tyr109Asn) c.*473T>A (n.*473T>A) n.892T>A n.694T>A | |
| 13 | g.32330931T>C | CA024616 | BRCA2 | c.694T>C (p.Tyr232His) c.325T>C (p.Tyr109His) c.*473T>C (n.*473T>C) n.892T>C n.694T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330931T>G | CA387759881 | BRCA2 | c.694T>G (p.Tyr232Asp) c.325T>G (p.Tyr109Asp) c.*473T>G (n.*473T>G) n.892T>G n.694T>G | |
| 13 | g.32330931T= | CA2082758932 | BRCA2 | c.694T= (p.Tyr232=) c.325T= (p.Tyr109=) c.*473T= (n.*473T=) n.892T= n.694T= | |
| 13 | g.32330931dup | CA10589041 | BRCA2 | c.694dup (p.Tyr232LeufsTer6) c.325dup (p.Tyr109LeufsTer6) c.*473dup (n.*473dup) n.892dup n.694dup | ClinVar dbSNP |
| 13 | g.32330932A= | CA2082758946 | BRCA2 | c.695A= (p.Tyr232=) c.326A= (p.Tyr109=) c.*474A= (n.*474A=) n.893A= n.695A= | |
| 13 | g.32330932A>C | CA387759882 | BRCA2 | c.695A>C (p.Tyr232Ser) c.326A>C (p.Tyr109Ser) c.*474A>C (n.*474A>C) n.893A>C n.695A>C | |
| 13 | g.32330932A>G | CA024642 | BRCA2 | c.695A>G (p.Tyr232Cys) c.326A>G (p.Tyr109Cys) c.*474A>G (n.*474A>G) n.893A>G n.695A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32330932A>T | CA387759885 | BRCA2 | c.695A>T (p.Tyr232Phe) c.326A>T (p.Tyr109Phe) c.*474A>T (n.*474A>T) n.893A>T n.695A>T | |
| 13 | g.32330932dup | CA2695217981 | BRCA2 | c.695dup (p.Tyr232Ter) c.326dup (p.Tyr109Ter) c.*474dup (n.*474dup) n.893dup n.695dup | |
| 13 | g.32330932_32330933delinsAT | CA2082758945 | BRCA2 | c.695_696delinsAT (p.Tyr232=) c.326_327delinsAT (p.Tyr109=) c.*474_*475delinsAT (n.*474_*475delinsAT) n.893_894delinsAT n.695_696delinsAT | |
| 13 | g.32330933T>A | CA387759891 | BRCA2 | c.696T>A (p.Tyr232Ter) c.327T>A (p.Tyr109Ter) c.*475T>A (n.*475T>A) n.894T>A n.696T>A | dbSNP |
| 13 | g.32330933T>C | CA483274397 | BRCA2 | c.696T>C (p.Tyr232=) c.327T>C (p.Tyr109=) c.*475T>C (n.*475T>C) n.894T>C n.696T>C | |
| 13 | g.32330933T>G | CA387759889 | BRCA2 | c.696T>G (p.Tyr232Ter) c.327T>G (p.Tyr109Ter) c.*475T>G (n.*475T>G) n.894T>G n.696T>G | |
| 13 | g.32330933_32330934delinsC | CA2580614646 | BRCA2 | c.696_697delinsC (p.Ser234ProfsTer7) c.327_328delinsC (p.Ser111ProfsTer7) c.*475_*476delinsC (n.*475_*476delinsC) n.894_895delinsC n.696_697delinsC | ClinVar |
| 13 | g.32330937del | CA024654 | BRCA2 | c.700del (p.Ser234ProfsTer7) c.331del (p.Ser111ProfsTer7) c.*479del (n.*479del) n.898del n.700del | ClinVar dbSNP |
| 13 | g.32330934T>A | CA387759893 | BRCA2 | c.697T>A (p.Phe233Ile) c.328T>A (p.Phe110Ile) c.*476T>A (n.*476T>A) n.895T>A n.697T>A | dbSNP |
| 13 | g.32330934T>C | CA387759895 | BRCA2 | c.697T>C (p.Phe233Leu) c.328T>C (p.Phe110Leu) c.*476T>C (n.*476T>C) n.895T>C n.697T>C | |
| 13 | g.32330934T>G | CA387759897 | BRCA2 | c.697T>G (p.Phe233Val) c.328T>G (p.Phe110Val) c.*476T>G (n.*476T>G) n.895T>G n.697T>G | ClinVar dbSNP |
| 13 | g.32330934T= | CA2082758965 | BRCA2 | c.697T= (p.Phe233=) c.328T= (p.Phe110=) c.*476T= (n.*476T=) n.895T= n.697T= | |
| 13 | g.32330935T>A | CA387759899 | BRCA2 | c.698T>A (p.Phe233Tyr) c.329T>A (p.Phe110Tyr) c.*477T>A (n.*477T>A) n.896T>A n.698T>A | dbSNP |
| 13 | g.32330935T>C | CA387759901 | BRCA2 | c.698T>C (p.Phe233Ser) c.329T>C (p.Phe110Ser) c.*477T>C (n.*477T>C) n.896T>C n.698T>C | dbSNP |
| 13 | g.32330935T>G | CA387759903 | BRCA2 | c.698T>G (p.Phe233Cys) c.329T>G (p.Phe110Cys) c.*477T>G (n.*477T>G) n.896T>G n.698T>G | |
| 13 | g.32330936T>A | CA387759904 | BRCA2 | c.699T>A (p.Phe233Leu) c.330T>A (p.Phe110Leu) c.*478T>A (n.*478T>A) n.897T>A n.699T>A | |
| 13 | g.32330936T>C | CA483274399 | BRCA2 | c.699T>C (p.Phe233=) c.330T>C (p.Phe110=) c.*478T>C (n.*478T>C) n.897T>C n.699T>C | dbSNP |
| 13 | g.32330936T>G | CA387759906 | BRCA2 | c.699T>G (p.Phe233Leu) c.330T>G (p.Phe110Leu) c.*478T>G (n.*478T>G) n.897T>G n.699T>G | ClinVar |
| 13 | g.32330937T>A | CA387759909 | BRCA2 | c.700T>A (p.Ser234Thr) c.331T>A (p.Ser111Thr) c.*479T>A (n.*479T>A) n.898T>A n.700T>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32330937T>C | CA387759910 | BRCA2 | c.700T>C (p.Ser234Pro) c.331T>C (p.Ser111Pro) c.*479T>C (n.*479T>C) n.898T>C n.700T>C | dbSNP |
| 13 | g.32330937T>G | CA387759911 | BRCA2 | c.700T>G (p.Ser234Ala) c.331T>G (p.Ser111Ala) c.*479T>G (n.*479T>G) n.898T>G n.700T>G | |
| 13 | g.32330937T= | CA2082758979 | BRCA2 | c.700T= (p.Ser234=) c.331T= (p.Ser111=) c.*479T= (n.*479T=) n.898T= n.700T= | |
| 13 | g.32330937_32330938delinsAT | CA915946947 | BRCA2 | c.700_701delinsAT (p.Ser234Ile) c.331_332delinsAT (p.Ser111Ile) c.*479_*480delinsAT (n.*479_*480delinsAT) n.898_899delinsAT n.700_701delinsAT | ClinVar dbSNP |
| 13 | g.32330937_32330938delinsTC | CA2082758976 | BRCA2 | c.700_701delinsTC (p.Ser234=) c.331_332delinsTC (p.Ser111=) c.*479_*480delinsTC (n.*479_*480delinsTC) n.898_899delinsTC n.700_701delinsTC | |
| 13 | g.32330938C>A | CA387759916 | BRCA2 | c.701C>A (p.Ser234Tyr) c.332C>A (p.Ser111Tyr) c.*480C>A (n.*480C>A) n.899C>A n.701C>A | |
| 13 | g.32330938C= | CA2082758992 | BRCA2 | c.701C= (p.Ser234=) c.332C= (p.Ser111=) c.*480C= (n.*480C=) n.899C= n.701C= | |
| 13 | g.32330938C>G | CA387759917 | BRCA2 | c.701C>G (p.Ser234Cys) c.332C>G (p.Ser111Cys) c.*480C>G (n.*480C>G) n.899C>G n.701C>G | |
| 13 | g.32330938C>T | CA387759914 | BRCA2 | c.701C>T (p.Ser234Phe) c.332C>T (p.Ser111Phe) c.*480C>T (n.*480C>T) n.899C>T n.701C>T | ClinVar dbSNP |
| 13 | g.32330939del | CA024773 | BRCA2 | c.702del (p.Asn235IlefsTer6) c.333del (p.Asn112IlefsTer6) c.*481del (n.*481del) n.900del n.702del | ClinVar dbSNP |
| 13 | g.32330939C>A | CA483274402 | BRCA2 | c.702C>A (p.Ser234=) c.333C>A (p.Ser111=) c.*481C>A (n.*481C>A) n.900C>A n.702C>A | gnomAD v4 |
| 13 | g.32330939C= | CA2082759000 | BRCA2 | c.702C= (p.Ser234=) c.333C= (p.Ser111=) c.*481C= (n.*481C=) n.900C= n.702C= | |
| 13 | g.32330939C>G | CA483274404 | BRCA2 | c.702C>G (p.Ser234=) c.333C>G (p.Ser111=) c.*481C>G (n.*481C>G) n.900C>G n.702C>G | dbSNP |
| 13 | g.32330939C>T | CA483274405 | BRCA2 | c.702C>T (p.Ser234=) c.333C>T (p.Ser111=) c.*481C>T (n.*481C>T) n.900C>T n.702C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32330940A= | CA2082759010 | BRCA2 | c.703A= (p.Asn235=) c.334A= (p.Asn112=) c.*482A= (n.*482A=) n.901A= n.703A= | |
| 13 | g.32330940A>C | CA387759918 | BRCA2 | c.703A>C (p.Asn235His) c.334A>C (p.Asn112His) c.*482A>C (n.*482A>C) n.901A>C n.703A>C | |
| 13 | g.32330940A>G | CA6940436 | BRCA2 | c.703A>G (p.Asn235Asp) c.334A>G (p.Asn112Asp) c.*482A>G (n.*482A>G) n.901A>G n.703A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330940A>T | CA387759920 | BRCA2 | c.703A>T (p.Asn235Tyr) c.334A>T (p.Asn112Tyr) c.*482A>T (n.*482A>T) n.901A>T n.703A>T | dbSNP |
| 13 | g.32330941A= | CA2082759013 | BRCA2 | c.704A= (p.Asn235=) c.335A= (p.Asn112=) c.*483A= (n.*483A=) n.902A= n.704A= | |
| 13 | g.32330941A>C | CA387759921 | BRCA2 | c.704A>C (p.Asn235Thr) c.335A>C (p.Asn112Thr) c.*483A>C (n.*483A>C) n.902A>C n.704A>C | |
| 13 | g.32330941A>G | CA024792 | BRCA2 | c.704A>G (p.Asn235Ser) c.335A>G (p.Asn112Ser) c.*483A>G (n.*483A>G) n.902A>G n.704A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330941A>T | CA387759923 | BRCA2 | c.704A>T (p.Asn235Ile) c.335A>T (p.Asn112Ile) c.*483A>T (n.*483A>T) n.902A>T n.704A>T | dbSNP |
| 13 | g.32330941_32330942delinsAT | CA2082759018 | BRCA2 | c.704_705delinsAT (p.Asn235=) c.335_336delinsAT (p.Asn112=) c.*483_*484delinsAT (n.*483_*484delinsAT) n.902_903delinsAT n.704_705delinsAT | |
| 13 | g.32330942del | CA658798109 | BRCA2 | c.705del (p.His236MetfsTer5) c.336del (p.His113MetfsTer5) c.*484del (n.*484del) n.903del n.705del | ClinVar dbSNP |
| 13 | g.32330942T>A | CA387759926 | BRCA2 | c.705T>A (p.Asn235Lys) c.336T>A (p.Asn112Lys) c.*484T>A (n.*484T>A) n.903T>A n.705T>A | dbSNP |
| 13 | g.32330942T>C | CA483274408 | BRCA2 | c.705T>C (p.Asn235=) c.336T>C (p.Asn112=) c.*484T>C (n.*484T>C) n.903T>C n.705T>C | ClinVar dbSNP |
| 13 | g.32330942T>G | CA024822 | BRCA2 | c.705T>G (p.Asn235Lys) c.336T>G (p.Asn112Lys) c.*484T>G (n.*484T>G) n.903T>G n.705T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330942T= | CA2082759026 | BRCA2 | c.705T= (p.Asn235=) c.336T= (p.Asn112=) c.*484T= (n.*484T=) n.903T= n.705T= | |
| 13 | g.32330943C>A | CA387759927 | BRCA2 | c.706C>A (p.His236Asn) c.337C>A (p.His113Asn) c.*485C>A (n.*485C>A) n.904C>A n.706C>A | dbSNP |
| 13 | g.32330943C= | CA2082759043 | BRCA2 | c.706C= (p.His236=) c.337C= (p.His113=) c.*485C= (n.*485C=) n.904C= n.706C= | |
| 13 | g.32330943C>G | CA387759928 | BRCA2 | c.706C>G (p.His236Asp) c.337C>G (p.His113Asp) c.*485C>G (n.*485C>G) n.904C>G n.706C>G | dbSNP gnomAD v4 |
| 13 | g.32330943C>T | CA387759930 | BRCA2 | c.706C>T (p.His236Tyr) c.337C>T (p.His113Tyr) c.*485C>T (n.*485C>T) n.904C>T n.706C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330943_32330944delinsCA | CA2082759046 | BRCA2 | c.706_707delinsCA (p.His236=) c.337_338delinsCA (p.His113=) c.*485_*486delinsCA (n.*485_*486delinsCA) n.904_905delinsCA n.706_707delinsCA | |
| 13 | g.32330943_32330946delinsCATG | CA2082759041 | BRCA2 | c.706_709delinsCATG (p.His236=) c.337_340delinsCATG (p.His113=) c.*485_*488delinsCATG (n.*485_*488delinsCATG) n.904_907delinsCATG n.706_709delinsCATG | |
| 13 | g.32330944del | CA1139663098 | BRCA2 | c.707del (p.His236LeufsTer5) c.338del (p.His113LeufsTer5) c.*486del (n.*486del) n.905del n.707del | ClinVar dbSNP |
| 13 | g.32330944A= | CA2082759065 | BRCA2 | c.707A= (p.His236=) c.338A= (p.His113=) c.*486A= (n.*486A=) n.905A= n.707A= | |
| 13 | g.32330944A>C | CA387759932 | BRCA2 | c.707A>C (p.His236Pro) c.338A>C (p.His113Pro) c.*486A>C (n.*486A>C) n.905A>C n.707A>C | |
| 13 | g.32330944A>G | CA024845 | BRCA2 | c.707A>G (p.His236Arg) c.338A>G (p.His113Arg) c.*486A>G (n.*486A>G) n.905A>G n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330944A>T | CA387759933 | BRCA2 | c.707A>T (p.His236Leu) c.338A>T (p.His113Leu) c.*486A>T (n.*486A>T) n.905A>T n.707A>T | ClinVar dbSNP |
| 13 | g.32330948_32330950del | CA10579469 | BRCA2 | c.711_713del (p.Asp237del) c.342_344del (p.Asp114del) c.*490_*492del (n.*490_*492del) n.909_911del n.711_713del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330945T>A | CA387759936 | BRCA2 | c.708T>A (p.His236Gln) c.339T>A (p.His113Gln) c.*487T>A (n.*487T>A) n.906T>A n.708T>A | |
| 13 | g.32330945T>C | CA024855 | BRCA2 | c.708T>C (p.His236=) c.339T>C (p.His113=) c.*487T>C (n.*487T>C) n.906T>C n.708T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330945T>G | CA387759937 | BRCA2 | c.708T>G (p.His236Gln) c.339T>G (p.His113Gln) c.*487T>G (n.*487T>G) n.906T>G n.708T>G | ClinVar |
| 13 | g.32330945T= | CA2082759074 | BRCA2 | c.708T= (p.His236=) c.339T= (p.His113=) c.*487T= (n.*487T=) n.906T= n.708T= | |
| 13 | g.32330946G>A | CA024869 | BRCA2 | c.709G>A (p.Asp237Asn) c.340G>A (p.Asp114Asn) c.*488G>A (n.*488G>A) n.907G>A n.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330946G>C | CA387759940 | BRCA2 | c.709G>C (p.Asp237His) c.340G>C (p.Asp114His) c.*488G>C (n.*488G>C) n.907G>C n.709G>C | dbSNP |
| 13 | g.32330946G= | CA2082759083 | BRCA2 | c.709G= (p.Asp237=) c.340G= (p.Asp114=) c.*488G= (n.*488G=) n.907G= n.709G= | |
| 13 | g.32330946G>T | CA387759941 | BRCA2 | c.709G>T (p.Asp237Tyr) c.340G>T (p.Asp114Tyr) c.*488G>T (n.*488G>T) n.907G>T n.709G>T | ClinVar dbSNP |
| 13 | g.32330947A= | CA2082759094 | BRCA2 | c.710A= (p.Asp237=) c.341A= (p.Asp114=) c.*489A= (n.*489A=) n.908A= n.710A= | |
| 13 | g.32330947A>C | CA387759943 | BRCA2 | c.710A>C (p.Asp237Ala) c.341A>C (p.Asp114Ala) c.*489A>C (n.*489A>C) n.908A>C n.710A>C | |
| 13 | g.32330947A>G | CA024877 | BRCA2 | c.710A>G (p.Asp237Gly) c.341A>G (p.Asp114Gly) c.*489A>G (n.*489A>G) n.908A>G n.710A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330947A>T | CA387759945 | BRCA2 | c.710A>T (p.Asp237Val) c.341A>T (p.Asp114Val) c.*489A>T (n.*489A>T) n.908A>T n.710A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330948T>A | CA387759947 | BRCA2 | c.711T>A (p.Asp237Glu) c.342T>A (p.Asp114Glu) c.*490T>A (n.*490T>A) n.909T>A n.711T>A | dbSNP |
| 13 | g.32330948T>C | CA483274412 | BRCA2 | c.711T>C (p.Asp237=) c.342T>C (p.Asp114=) c.*490T>C (n.*490T>C) n.909T>C n.711T>C | dbSNP gnomAD v4 |
| 13 | g.32330948T>G | CA387759948 | BRCA2 | c.711T>G (p.Asp237Glu) c.342T>G (p.Asp114Glu) c.*490T>G (n.*490T>G) n.909T>G n.711T>G | |
| 13 | g.32330948T= | CA2082759101 | BRCA2 | c.711T= (p.Asp237=) c.342T= (p.Asp114=) c.*490T= (n.*490T=) n.909T= n.711T= | |
| 13 | g.32330949G>A | CA387759950 | BRCA2 | c.712G>A (p.Glu238Lys) c.343G>A (p.Glu115Lys) c.*491G>A (n.*491G>A) n.910G>A n.712G>A | dbSNP |
| 13 | g.32330949G>C | CA6940437 | BRCA2 | c.712G>C (p.Glu238Gln) c.343G>C (p.Glu115Gln) c.*491G>C (n.*491G>C) n.910G>C n.712G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330949G= | CA2082759113 | BRCA2 | c.712G= (p.Glu238=) c.343G= (p.Glu115=) c.*491G= (n.*491G=) n.910G= n.712G= | |
| 13 | g.32330949G>T | CA024893 | BRCA2 | c.712G>T (p.Glu238Ter) c.343G>T (p.Glu115Ter) c.*491G>T (n.*491G>T) n.910G>T n.712G>T | ClinVar dbSNP |
| 13 | g.32330949dup | CA915946948 | BRCA2 | c.712dup (p.Glu238GlyfsTer7) c.343dup (p.Glu115GlyfsTer7) c.*491dup (n.*491dup) n.910dup n.712dup | ClinVar dbSNP |
| 13 | g.32330949_32330950delinsGA | CA2082759107 | BRCA2 | c.712_713delinsGA (p.Glu238=) c.343_344delinsGA (p.Glu115=) c.*491_*492delinsGA (n.*491_*492delinsGA) n.910_911delinsGA n.712_713delinsGA | |
| 13 | g.32330950A= | CA2082759125 | BRCA2 | c.713A= (p.Glu238=) c.344A= (p.Glu115=) c.*492A= (n.*492A=) n.911A= n.713A= | |
| 13 | g.32330950A>C | CA387759957 | BRCA2 | c.713A>C (p.Glu238Ala) c.344A>C (p.Glu115Ala) c.*492A>C (n.*492A>C) n.911A>C n.713A>C | gnomAD v4 |
| 13 | g.32330950A>G | CA387759955 | BRCA2 | c.713A>G (p.Glu238Gly) c.344A>G (p.Glu115Gly) c.*492A>G (n.*492A>G) n.911A>G n.713A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32330950A>T | CA387759953 | BRCA2 | c.713A>T (p.Glu238Val) c.344A>T (p.Glu115Val) c.*492A>T (n.*492A>T) n.911A>T n.713A>T | ClinVar dbSNP |
| 13 | g.32330952dup | CA10589042 | BRCA2 | c.715dup (p.Ser239LysfsTer6) c.346dup (p.Ser116LysfsTer6) c.*494dup (n.*494dup) n.913dup n.715dup | ClinVar dbSNP |
| 13 | g.32330952del | CA024913 | BRCA2 | c.715del (p.Ser239ValfsTer2) c.346del (p.Ser116ValfsTer2) c.*494del (n.*494del) n.913del n.715del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330951A>C | CA387759962 | BRCA2 | c.714A>C (p.Glu238Asp) c.345A>C (p.Glu115Asp) c.*493A>C (n.*493A>C) n.912A>C n.714A>C | |
| 13 | g.32330951A>G | CA483274415 | BRCA2 | c.714A>G (p.Glu238=) c.345A>G (p.Glu115=) c.*493A>G (n.*493A>G) n.912A>G n.714A>G | dbSNP |
| 13 | g.32330951A>T | CA387759964 | BRCA2 | c.714A>T (p.Glu238Asp) c.345A>T (p.Glu115Asp) c.*493A>T (n.*493A>T) n.912A>T n.714A>T | dbSNP |
| 13 | g.32330951_32330953dup | CA024898 | BRCA2 | c.714_716dup (p.Glu238_Ser239insArg) c.345_347dup (p.Glu115_Ser116insArg) c.*493_*495dup (n.*493_*495dup) n.912_914dup n.714_716dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330952A= | CA2082759132 | BRCA2 | c.715A= (p.Ser239=) c.346A= (p.Ser116=) c.*494A= (n.*494A=) n.913A= n.715A= | |
| 13 | g.32330952A>C | CA387759966 | BRCA2 | c.715A>C (p.Ser239Arg) c.346A>C (p.Ser116Arg) c.*494A>C (n.*494A>C) n.913A>C n.715A>C | |
| 13 | g.32330952A>G | CA387759968 | BRCA2 | c.715A>G (p.Ser239Gly) c.346A>G (p.Ser116Gly) c.*494A>G (n.*494A>G) n.913A>G n.715A>G | ClinVar dbSNP |
| 13 | g.32330952A>T | CA387759969 | BRCA2 | c.715A>T (p.Ser239Cys) c.346A>T (p.Ser116Cys) c.*494A>T (n.*494A>T) n.913A>T n.715A>T | dbSNP |
| 13 | g.32330953del | CA2580087072 | BRCA2 | c.716del (p.Ser239IlefsTer2) c.347del (p.Ser116IlefsTer2) c.*495del (n.*495del) n.914del n.716del | ClinVar gnomAD v4 |
| 13 | g.32330953G>A | CA387759971 | BRCA2 | c.716G>A (p.Ser239Asn) c.347G>A (p.Ser116Asn) c.*495G>A (n.*495G>A) n.914G>A n.716G>A | dbSNP gnomAD v4 |
| 13 | g.32330953G>C | CA387759973 | BRCA2 | c.716G>C (p.Ser239Thr) c.347G>C (p.Ser116Thr) c.*495G>C (n.*495G>C) n.914G>C n.716G>C | dbSNP |
| 13 | g.32330953G= | CA2082759137 | BRCA2 | c.716G= (p.Ser239=) c.347G= (p.Ser116=) c.*495G= (n.*495G=) n.914G= n.716G= | |
| 13 | g.32330953G>T | CA387759974 | BRCA2 | c.716G>T (p.Ser239Ile) c.347G>T (p.Ser116Ile) c.*495G>T (n.*495G>T) n.914G>T n.716G>T | ClinVar |
| 13 | g.32330953_32330955delinsGTC | CA2082759139 | BRCA2 | c.716_718delinsGTC (p.Ser239=) c.347_349delinsGTC (p.Ser116=) c.*495_*497delinsGTC (n.*495_*497delinsGTC) n.914_916delinsGTC n.716_718delinsGTC | |
| 13 | g.32330954T>A | CA387759976 | BRCA2 | c.717T>A (p.Ser239Arg) c.348T>A (p.Ser116Arg) c.*496T>A (n.*496T>A) n.915T>A n.717T>A | dbSNP |
| 13 | g.32330954T>C | CA483274416 | BRCA2 | c.717T>C (p.Ser239=) c.348T>C (p.Ser116=) c.*496T>C (n.*496T>C) n.915T>C n.717T>C | ClinVar dbSNP |
| 13 | g.32330954T>G | CA387759977 | BRCA2 | c.717T>G (p.Ser239Arg) c.348T>G (p.Ser116Arg) c.*496T>G (n.*496T>G) n.915T>G n.717T>G | |
| 13 | g.32330955_32330956del | CA658683831 | BRCA2 | c.718_719del (p.Leu240GlufsTer4) c.349_350del (p.Leu117GlufsTer4) c.*497_*498del (n.*497_*498del) n.916_917del n.718_719del | ClinVar dbSNP |
| 13 | g.32330955C>A | CA387759979 | BRCA2 | c.718C>A (p.Leu240Met) c.349C>A (p.Leu117Met) c.*497C>A (n.*497C>A) n.916C>A n.718C>A | dbSNP |
| 13 | g.32330955C>G | CA387759981 | BRCA2 | c.718C>G (p.Leu240Val) c.349C>G (p.Leu117Val) c.*497C>G (n.*497C>G) n.916C>G n.718C>G | ClinVar dbSNP |
| 13 | g.32330955C>T | CA483274417 | BRCA2 | c.718C>T (p.Leu240=) c.349C>T (p.Leu117=) c.*497C>T (n.*497C>T) n.916C>T n.718C>T | dbSNP |
| 13 | g.32330956T>A | CA387759982 | BRCA2 | c.719T>A (p.Leu240Gln) c.350T>A (p.Leu117Gln) c.*498T>A (n.*498T>A) n.917T>A n.719T>A | |
| 13 | g.32330956T>C | CA387759983 | BRCA2 | c.719T>C (p.Leu240Pro) c.350T>C (p.Leu117Pro) c.*498T>C (n.*498T>C) n.917T>C n.719T>C | |
| 13 | g.32330956T>G | CA387759984 | BRCA2 | c.719T>G (p.Leu240Arg) c.350T>G (p.Leu117Arg) c.*498T>G (n.*498T>G) n.917T>G n.719T>G | |
| 13 | g.32330957G>A | CA483274419 | BRCA2 | c.720G>A (p.Leu240=) c.351G>A (p.Leu117=) c.*499G>A (n.*499G>A) n.918G>A n.720G>A | dbSNP |
| 13 | g.32330957G>C | CA483274420 | BRCA2 | c.720G>C (p.Leu240=) c.351G>C (p.Leu117=) c.*499G>C (n.*499G>C) n.918G>C n.720G>C | dbSNP |
| 13 | g.32330957G>T | CA483274421 | BRCA2 | c.720G>T (p.Leu240=) c.351G>T (p.Leu117=) c.*499G>T (n.*499G>T) n.918G>T n.720G>T | ClinVar |
| 13 | g.32330958A= | CA2082759144 | BRCA2 | c.721A= (p.Lys241=) c.352A= (p.Lys118=) c.*500A= (n.*500A=) n.919A= n.721A= | |
| 13 | g.32330958A>C | CA387759989 | BRCA2 | c.721A>C (p.Lys241Gln) c.352A>C (p.Lys118Gln) c.*500A>C (n.*500A>C) n.919A>C n.721A>C | |
| 13 | g.32330958A>G | CA387759987 | BRCA2 | c.721A>G (p.Lys241Glu) c.352A>G (p.Lys118Glu) c.*500A>G (n.*500A>G) n.919A>G n.721A>G | gnomAD v4 |
| 13 | g.32330958A>T | CA10579470 | BRCA2 | c.721A>T (p.Lys241Ter) c.352A>T (p.Lys118Ter) c.*500A>T (n.*500A>T) n.919A>T n.721A>T | ClinVar dbSNP |
| 13 | g.32330959del | CA2499222060 | BRCA2 | c.722del (p.Lys241ArgfsTer10) c.353del (p.Lys118ArgfsTer10) c.*501del (n.*501del) n.920del n.722del | ClinVar dbSNP |
| 13 | g.32330959A= | CA2082759153 | BRCA2 | c.722A= (p.Lys241=) c.353A= (p.Lys118=) c.*501A= (n.*501A=) n.920A= n.722A= | |
| 13 | g.32330959A>C | CA387759990 | BRCA2 | c.722A>C (p.Lys241Thr) c.353A>C (p.Lys118Thr) c.*501A>C (n.*501A>C) n.920A>C n.722A>C | ClinVar dbSNP |
| 13 | g.32330959A>G | CA387759992 | BRCA2 | c.722A>G (p.Lys241Arg) c.353A>G (p.Lys118Arg) c.*501A>G (n.*501A>G) n.920A>G n.722A>G | ClinVar dbSNP |
| 13 | g.32330959A>T | CA387759994 | BRCA2 | c.722A>T (p.Lys241Met) c.353A>T (p.Lys118Met) c.*501A>T (n.*501A>T) n.920A>T n.722A>T | |
| 13 | g.32330959_32330960delinsAG | CA2082759151 | BRCA2 | c.722_723delinsAG (p.Lys241=) c.353_354delinsAG (p.Lys118=) c.*501_*502delinsAG (n.*501_*502delinsAG) n.920_921delinsAG n.722_723delinsAG | |
| 13 | g.32330960del | CA10589043 | BRCA2 | c.723del (p.Asn243MetfsTer8) c.354del (p.Asn120MetfsTer8) c.*502del (n.*502del) n.921del n.723del | ClinVar dbSNP |
| 13 | g.32330960G>A | CA483274424 | BRCA2 | c.723G>A (p.Lys241=) c.354G>A (p.Lys118=) c.*502G>A (n.*502G>A) n.921G>A n.723G>A | ClinVar dbSNP |
| 13 | g.32330960G>C | CA387759995 | BRCA2 | c.723G>C (p.Lys241Asn) c.354G>C (p.Lys118Asn) c.*502G>C (n.*502G>C) n.921G>C n.723G>C | |
| 13 | g.32330960G>T | CA387759997 | BRCA2 | c.723G>T (p.Lys241Asn) c.354G>T (p.Lys118Asn) c.*502G>T (n.*502G>T) n.921G>T n.723G>T | |
| 13 | g.32330960_32330961delinsCT | CA913191077 | BRCA2 | c.723_724delinsCT (p.Lys241AsnfsTer2) c.354_355delinsCT (p.Lys118AsnfsTer2) c.*502_*503delinsCT (n.*502_*503delinsCT) n.921_922delinsCT n.723_724delinsCT | ClinVar dbSNP |
| 13 | g.32330960_32330961delinsGA | CA2082759163 | BRCA2 | c.723_724delinsGA (p.Lys241=) c.354_355delinsGA (p.Lys118=) c.*502_*503delinsGA (n.*502_*503delinsGA) n.921_922delinsGA n.723_724delinsGA | |
| 13 | g.32330961A>C | CA387759999 | BRCA2 | c.724A>C (p.Lys242Gln) c.355A>C (p.Lys119Gln) c.*503A>C (n.*503A>C) n.922A>C n.724A>C | gnomAD v4 |
| 13 | g.32330961A>G | CA387760000 | BRCA2 | c.724A>G (p.Lys242Glu) c.355A>G (p.Lys119Glu) c.*503A>G (n.*503A>G) n.922A>G n.724A>G | |
| 13 | g.32330961A>T | CA387760002 | BRCA2 | c.724A>T (p.Lys242Ter) c.355A>T (p.Lys119Ter) c.*503A>T (n.*503A>T) n.922A>T n.724A>T | ClinVar dbSNP |
| 13 | g.32330965dup | CA10589044 | BRCA2 | c.728dup (p.Asn243LysfsTer2) c.359dup (p.Asn120LysfsTer2) c.*507dup (n.*507dup) n.926dup n.728dup | ClinVar dbSNP |
| 13 | g.32330965del | CA2082759173 | BRCA2 | c.728del (p.Asn243MetfsTer8) c.359del (p.Asn120MetfsTer8) c.*507del (n.*507del) n.926del n.728del | ClinVar dbSNP |
| 13 | g.32330962A>C | CA387760003 | BRCA2 | c.725A>C (p.Lys242Thr) c.356A>C (p.Lys119Thr) c.*504A>C (n.*504A>C) n.923A>C n.725A>C | |
| 13 | g.32330962A>G | CA387760004 | BRCA2 | c.725A>G (p.Lys242Arg) c.356A>G (p.Lys119Arg) c.*504A>G (n.*504A>G) n.923A>G n.725A>G | ClinVar gnomAD v4 |
| 13 | g.32330962A>T | CA387760006 | BRCA2 | c.725A>T (p.Lys242Ile) c.356A>T (p.Lys119Ile) c.*504A>T (n.*504A>T) n.923A>T n.725A>T | |
| 13 | g.32330963A= | CA2082759179 | BRCA2 | c.726A= (p.Lys242=) c.357A= (p.Lys119=) c.*505A= (n.*505A=) n.924A= n.726A= | |
| 13 | g.32330963A>C | CA387760010 | BRCA2 | c.726A>C (p.Lys242Asn) c.357A>C (p.Lys119Asn) c.*505A>C (n.*505A>C) n.924A>C n.726A>C | |
| 13 | g.32330963A>G | CA483274427 | BRCA2 | c.726A>G (p.Lys242=) c.357A>G (p.Lys119=) c.*505A>G (n.*505A>G) n.924A>G n.726A>G | ClinVar dbSNP |
| 13 | g.32330963A>T | CA387760008 | BRCA2 | c.726A>T (p.Lys242Asn) c.357A>T (p.Lys119Asn) c.*505A>T (n.*505A>T) n.924A>T n.726A>T | |
| 13 | g.32330964A>C | CA387760011 | BRCA2 | c.727A>C (p.Asn243His) c.358A>C (p.Asn120His) c.*506A>C (n.*506A>C) n.925A>C n.727A>C | |
| 13 | g.32330964A>G | CA387760012 | BRCA2 | c.727A>G (p.Asn243Asp) c.358A>G (p.Asn120Asp) c.*506A>G (n.*506A>G) n.925A>G n.727A>G | |
| 13 | g.32330964A>T | CA387760014 | BRCA2 | c.727A>T (p.Asn243Tyr) c.358A>T (p.Asn120Tyr) c.*506A>T (n.*506A>T) n.925A>T n.727A>T | |
| 13 | g.32330964_32330966delinsAAT | CA2082759183 | BRCA2 | c.727_729delinsAAT (p.Asn243=) c.358_360delinsAAT (p.Asn120=) c.*506_*508delinsAAT (n.*506_*508delinsAAT) n.925_927delinsAAT n.727_729delinsAAT | |
| 13 | g.32330965A= | CA2082759190 | BRCA2 | c.728A= (p.Asn243=) c.359A= (p.Asn120=) c.*507A= (n.*507A=) n.926A= n.728A= | |
| 13 | g.32330965A>C | CA387760016 | BRCA2 | c.728A>C (p.Asn243Thr) c.359A>C (p.Asn120Thr) c.*507A>C (n.*507A>C) n.926A>C n.728A>C | |
| 13 | g.32330965A>G | CA387760017 | BRCA2 | c.728A>G (p.Asn243Ser) c.359A>G (p.Asn120Ser) c.*507A>G (n.*507A>G) n.926A>G n.728A>G | |
| 13 | g.32330965A>T | CA387760018 | BRCA2 | c.728A>T (p.Asn243Ile) c.359A>T (p.Asn120Ile) c.*507A>T (n.*507A>T) n.926A>T n.728A>T | |
| 13 | g.32330965_32330966del | CA915946949 | BRCA2 | c.728_729del (p.Asn243ArgfsTer2) c.359_360del (p.Asn120ArgfsTer2) c.*507_*508del (n.*507_*508del) n.926_927del n.728_729del | ClinVar dbSNP |
| 13 | g.32330965_32330967delinsATG | CA2082759191 | BRCA2 | c.728_730delinsATG (p.Asn243=) c.359_361delinsATG (p.Asn120=) c.*507_*509delinsATG (n.*507_*509delinsATG) n.926_928delinsATG n.728_730delinsATG | |
| 13 | g.32330965_32330969delinsATGAT | CA2082759188 | BRCA2 | c.728_732delinsATGAT (p.Asn243=) c.359_363delinsATGAT (p.Asn120=) c.*507_*511delinsATGAT (n.*507_*511delinsATGAT) n.926_930delinsATGAT n.728_732delinsATGAT | |
| 13 | g.32330965_32330966insC | CA658823652 | BRCA2 | c.728_729insC (p.Asp244Ter) c.359_360insC (p.Asp121Ter) c.*507_*508insC (n.*507_*508insC) n.926_927insC n.728_729insC | ClinVar dbSNP |
| 13 | g.32330966del | CA2580087074 | BRCA2 | c.729del (p.Asn243LysfsTer8) c.360del (p.Asn120LysfsTer8) c.*508del (n.*508del) n.927del n.729del | ClinVar |
| 13 | g.32330966T>A | CA387760021 | BRCA2 | c.729T>A (p.Asn243Lys) c.360T>A (p.Asn120Lys) c.*508T>A (n.*508T>A) n.927T>A n.729T>A | dbSNP |
| 13 | g.32330966T>C | CA483274435 | BRCA2 | c.729T>C (p.Asn243=) c.360T>C (p.Asn120=) c.*508T>C (n.*508T>C) n.927T>C n.729T>C | ClinVar dbSNP |
| 13 | g.32330966T>G | CA387760022 | BRCA2 | c.729T>G (p.Asn243Lys) c.360T>G (p.Asn120Lys) c.*508T>G (n.*508T>G) n.927T>G n.729T>G | |
| 13 | g.32330966T= | CA2082759200 | BRCA2 | c.729T= (p.Asn243=) c.360T= (p.Asn120=) c.*508T= (n.*508T=) n.927T= n.729T= | |
| 13 | g.32330966dup | CA10589046 | BRCA2 | c.729dup (p.Asp244Ter) c.360dup (p.Asp121Ter) c.*508dup (n.*508dup) n.927dup n.729dup | ClinVar dbSNP |
| 13 | g.32330966_32330967del | CA919242750 | BRCA2 | c.729_730del (p.Asn243LysfsTer2) c.360_361del (p.Asn120LysfsTer2) c.*508_*509del (n.*508_*509del) n.927_928del n.729_730del | dbSNP |
| 13 | g.32330966_32330969del | CA025015 | BRCA2 | c.729_732del (p.Asn243LysfsTer7) c.360_363del (p.Asn120LysfsTer7) c.*508_*511del (n.*508_*511del) n.927_930del n.729_732del | ClinVar dbSNP |
| 13 | g.32330966_32330967insC | CA10589045 | BRCA2 | c.729_730insC (p.Asp244ArgfsTer2) c.360_361insC (p.Asp121ArgfsTer2) c.*508_*509insC (n.*508_*509insC) n.927_928insC n.729_730insC | ClinVar dbSNP |
| 13 | g.32330967G>A | CA025025 | BRCA2 | c.730G>A (p.Asp244Asn) c.361G>A (p.Asp121Asn) c.*509G>A (n.*509G>A) n.928G>A n.730G>A | ClinVar dbSNP |
| 13 | g.32330967G>C | CA387760026 | BRCA2 | c.730G>C (p.Asp244His) c.361G>C (p.Asp121His) c.*509G>C (n.*509G>C) n.928G>C n.730G>C | dbSNP |
| 13 | g.32330967G= | CA2082759231 | BRCA2 | c.730G= (p.Asp244=) c.361G= (p.Asp121=) c.*509G= (n.*509G=) n.928G= n.730G= | |
| 13 | g.32330967G>T | CA6940438 | BRCA2 | c.730G>T (p.Asp244Tyr) c.361G>T (p.Asp121Tyr) c.*509G>T (n.*509G>T) n.928G>T n.730G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330967_32330969delinsGAT | CA2082759223 | BRCA2 | c.730_732delinsGAT (p.Asp244=) c.361_363delinsGAT (p.Asp121=) c.*509_*511delinsGAT (n.*509_*511delinsGAT) n.928_930delinsGAT n.730_732delinsGAT | |
| 13 | g.32330968A= | CA2082759245 | BRCA2 | c.731A= (p.Asp244=) c.362A= (p.Asp121=) c.*510A= (n.*510A=) n.929A= n.731A= | |
| 13 | g.32330968A>C | CA387760029 | BRCA2 | c.731A>C (p.Asp244Ala) c.362A>C (p.Asp121Ala) c.*510A>C (n.*510A>C) n.929A>C n.731A>C | |
| 13 | g.32330968A>G | CA16613820 | BRCA2 | c.731A>G (p.Asp244Gly) c.362A>G (p.Asp121Gly) c.*510A>G (n.*510A>G) n.929A>G n.731A>G | ClinVar dbSNP |
| 13 | g.32330968A>T | CA387760028 | BRCA2 | c.731A>T (p.Asp244Val) c.362A>T (p.Asp121Val) c.*510A>T (n.*510A>T) n.929A>T n.731A>T | dbSNP |
| 13 | g.32330969_32330970dup | CA2580087077 | BRCA2 | c.732_733dup (p.Arg245IlefsTer7) c.363_364dup (p.Arg122IlefsTer7) c.*511_*512dup (n.*511_*512dup) n.930_931dup n.732_733dup | ClinVar |
| 13 | g.32330969_32330970del | CA697333560 | BRCA2 | c.732_733del (p.Asp244GlufsTer10) c.363_364del (p.Asp121GlufsTer10) c.*511_*512del (n.*511_*512del) n.930_931del n.732_733del | ClinVar dbSNP |
| 13 | g.32330970_32330977del | CA2739277531 | BRCA2 | c.733_740del (p.Ile247CysfsTer5) c.364_371del (p.Ile124CysfsTer5) c.*512_*519del (n.*512_*519del) n.931_938del n.733_740del | ClinVar |
| 13 | g.32330969T>A | CA387760030 | BRCA2 | c.732T>A (p.Asp244Glu) c.363T>A (p.Asp121Glu) c.*511T>A (n.*511T>A) n.930T>A n.732T>A | dbSNP |
| 13 | g.32330969T>C | CA483274440 | BRCA2 | c.732T>C (p.Asp244=) c.363T>C (p.Asp121=) c.*511T>C (n.*511T>C) n.930T>C n.732T>C | ClinVar dbSNP |
| 13 | g.32330969T>G | CA387760032 | BRCA2 | c.732T>G (p.Asp244Glu) c.363T>G (p.Asp121Glu) c.*511T>G (n.*511T>G) n.930T>G n.732T>G | |
| 13 | g.32330969T= | CA2082759257 | BRCA2 | c.732T= (p.Asp244=) c.363T= (p.Asp121=) c.*511T= (n.*511T=) n.930T= n.732T= | |
| 13 | g.32330969_32330970delinsTA | CA2082759253 | BRCA2 | c.732_733delinsTA (p.Asp244=) c.363_364delinsTA (p.Asp121=) c.*511_*512delinsTA (n.*511_*512delinsTA) n.930_931delinsTA n.732_733delinsTA | |
| 13 | g.32330969_32330989delinsTAGATTTATCGCTTCTGTGAC | CA2082759259 | BRCA2 | c.732_752delinsTAGATTTATCGCTTCTGTGAC (p.Asp244=) c.363_383delinsTAGATTTATCGCTTCTGTGAC (p.Asp121=) c.*511_*531delinsTAGATTTATCGCTTCTGTGAC (n.*511_*531delinsTAGATTTATCGCTTCTGTGAC) n.930_950delinsTAGATTTATCGCTTCTGTGAC n.732_752delinsTAGATTTATCGCTTCTGTGAC | |
| 13 | g.32330970del | CA10579471 | BRCA2 | c.733del (p.Arg245AspfsTer6) c.364del (p.Arg122AspfsTer6) c.*512del (n.*512del) n.931del n.733del | ClinVar dbSNP |
| 13 | g.32330970A= | CA2082759279 | BRCA2 | c.733A= (p.Arg245=) c.364A= (p.Arg122=) c.*512A= (n.*512A=) n.931A= n.733A= | |
| 13 | g.32330970A>C | CA483274442 | BRCA2 | c.733A>C (p.Arg245=) c.364A>C (p.Arg122=) c.*512A>C (n.*512A>C) n.931A>C n.733A>C | |
| 13 | g.32330970A>G | CA387760034 | BRCA2 | c.733A>G (p.Arg245Gly) c.364A>G (p.Arg122Gly) c.*512A>G (n.*512A>G) n.931A>G n.733A>G | ClinVar dbSNP gnomAD v2 |
| 13 | g.32330970A>T | CA025035 | BRCA2 | c.733A>T (p.Arg245Ter) c.364A>T (p.Arg122Ter) c.*512A>T (n.*512A>T) n.931A>T n.733A>T | ClinVar dbSNP |
| 13 | g.32330973_32330992del | CA10589047 | BRCA2 | c.736_755del (p.Phe246GlnfsTer2) c.367_386del (p.Phe123GlnfsTer2) c.*515_*534del (n.*515_*534del) n.934_953del n.736_755del | ClinVar dbSNP |
| 13 | g.32330971G>A | CA387760038 | BRCA2 | c.734G>A (p.Arg245Lys) c.365G>A (p.Arg122Lys) c.*513G>A (n.*513G>A) n.932G>A n.734G>A | ClinVar dbSNP |
| 13 | g.32330971G>C | CA10586077 | BRCA2 | c.734G>C (p.Arg245Thr) c.365G>C (p.Arg122Thr) c.*513G>C (n.*513G>C) n.932G>C n.734G>C | ClinVar dbSNP |
| 13 | g.32330971G= | CA2082759298 | BRCA2 | c.734G= (p.Arg245=) c.365G= (p.Arg122=) c.*513G= (n.*513G=) n.932G= n.734G= | |
| 13 | g.32330971G>T | CA387760040 | BRCA2 | c.734G>T (p.Arg245Ile) c.365G>T (p.Arg122Ile) c.*513G>T (n.*513G>T) n.932G>T n.734G>T | dbSNP |
| 13 | g.32330972A= | CA2082759308 | BRCA2 | c.735A= (p.Arg245=) c.366A= (p.Arg122=) c.*514A= (n.*514A=) n.933A= n.735A= | |
| 13 | g.32330972A>C | CA025042 | BRCA2 | c.735A>C (p.Arg245Ser) c.366A>C (p.Arg122Ser) c.*514A>C (n.*514A>C) n.933A>C n.735A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330972A>G | CA483274444 | BRCA2 | c.735A>G (p.Arg245=) c.366A>G (p.Arg122=) c.*514A>G (n.*514A>G) n.933A>G n.735A>G | |
| 13 | g.32330972A>T | CA387760042 | BRCA2 | c.735A>T (p.Arg245Ser) c.366A>T (p.Arg122Ser) c.*514A>T (n.*514A>T) n.933A>T n.735A>T | |
| 13 | g.32330972_32330973delinsAT | CA2082759304 | BRCA2 | c.735_736delinsAT (p.Arg245=) c.366_367delinsAT (p.Arg122=) c.*514_*515delinsAT (n.*514_*515delinsAT) n.933_934delinsAT n.735_736delinsAT | |
| 13 | g.32330973T>A | CA387760044 | BRCA2 | c.736T>A (p.Phe246Ile) c.367T>A (p.Phe123Ile) c.*515T>A (n.*515T>A) n.934T>A n.736T>A | dbSNP |
| 13 | g.32330973T>C | CA387760045 | BRCA2 | c.736T>C (p.Phe246Leu) c.367T>C (p.Phe123Leu) c.*515T>C (n.*515T>C) n.934T>C n.736T>C | |
| 13 | g.32330973T>G | CA387760047 | BRCA2 | c.736T>G (p.Phe246Val) c.367T>G (p.Phe123Val) c.*515T>G (n.*515T>G) n.934T>G n.736T>G | |
| 13 | g.32330975del | CA891843616 | BRCA2 | c.738del (p.Phe246LeufsTer5) c.369del (p.Phe123LeufsTer5) c.*517del (n.*517del) n.936del n.738del | ClinVar dbSNP |
| 13 | g.32330974T>A | CA6940439 | BRCA2 | c.737T>A (p.Phe246Tyr) c.368T>A (p.Phe123Tyr) c.*516T>A (n.*516T>A) n.935T>A n.737T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330974T>C | CA387760051 | BRCA2 | c.737T>C (p.Phe246Ser) c.368T>C (p.Phe123Ser) c.*516T>C (n.*516T>C) n.935T>C n.737T>C | dbSNP |
| 13 | g.32330974T>G | CA387760049 | BRCA2 | c.737T>G (p.Phe246Cys) c.368T>G (p.Phe123Cys) c.*516T>G (n.*516T>G) n.935T>G n.737T>G | |
| 13 | g.32330974T= | CA2082759322 | BRCA2 | c.737T= (p.Phe246=) c.368T= (p.Phe123=) c.*516T= (n.*516T=) n.935T= n.737T= | |
| 13 | g.32330974_32330976delinsTTA | CA2082759324 | BRCA2 | c.737_739delinsTTA (p.Phe246=) c.368_370delinsTTA (p.Phe123=) c.*516_*518delinsTTA (n.*516_*518delinsTTA) n.935_937delinsTTA n.737_739delinsTTA | |
| 13 | g.32330975T>A | CA387760052 | BRCA2 | c.738T>A (p.Phe246Leu) c.369T>A (p.Phe123Leu) c.*517T>A (n.*517T>A) n.936T>A n.738T>A | dbSNP |
| 13 | g.32330975T>C | CA483274446 | BRCA2 | c.738T>C (p.Phe246=) c.369T>C (p.Phe123=) c.*517T>C (n.*517T>C) n.936T>C n.738T>C | ClinVar dbSNP |
| 13 | g.32330975T>G | CA387760054 | BRCA2 | c.738T>G (p.Phe246Leu) c.369T>G (p.Phe123Leu) c.*517T>G (n.*517T>G) n.936T>G n.738T>G | |
| 13 | g.32330975T= | CA2082759336 | BRCA2 | c.738T= (p.Phe246=) c.369T= (p.Phe123=) c.*517T= (n.*517T=) n.936T= n.738T= | |
| 13 | g.32330976_32330977del | CA10589048 | BRCA2 | c.739_740del (p.Ile247ArgfsTer7) c.370_371del (p.Ile124ArgfsTer7) c.*518_*519del (n.*518_*519del) n.937_938del n.739_740del | ClinVar dbSNP |
| 13 | g.32330976A= | CA2082759346 | BRCA2 | c.739A= (p.Ile247=) c.370A= (p.Ile124=) c.*518A= (n.*518A=) n.937A= n.739A= | |
| 13 | g.32330976A>C | CA387760059 | BRCA2 | c.739A>C (p.Ile247Leu) c.370A>C (p.Ile124Leu) c.*518A>C (n.*518A>C) n.937A>C n.739A>C | dbSNP |
| 13 | g.32330976A>G | CA387760056 | BRCA2 | c.739A>G (p.Ile247Val) c.370A>G (p.Ile124Val) c.*518A>G (n.*518A>G) n.937A>G n.739A>G | ClinVar dbSNP |
| 13 | g.32330976A>T | CA387760058 | BRCA2 | c.739A>T (p.Ile247Phe) c.370A>T (p.Ile124Phe) c.*518A>T (n.*518A>T) n.937A>T n.739A>T | ClinVar dbSNP |
| 13 | g.32330976_32330977insAG | CA658823653 | BRCA2 | c.739_740insAG (p.Ile247LysfsTer5) c.370_371insAG (p.Ile124LysfsTer5) c.*518_*519insAG (n.*518_*519insAG) n.937_938insAG n.739_740insAG | ClinVar dbSNP |
| 13 | g.32330977T>A | CA387760060 | BRCA2 | c.740T>A (p.Ile247Asn) c.371T>A (p.Ile124Asn) c.*519T>A (n.*519T>A) n.938T>A n.740T>A | dbSNP |
| 13 | g.32330977T>C | CA025060 | BRCA2 | c.740T>C (p.Ile247Thr) c.371T>C (p.Ile124Thr) c.*519T>C (n.*519T>C) n.938T>C n.740T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330977T>G | CA387760062 | BRCA2 | c.740T>G (p.Ile247Ser) c.371T>G (p.Ile124Ser) c.*519T>G (n.*519T>G) n.938T>G n.740T>G | dbSNP |
| 13 | g.32330977T= | CA2082759356 | BRCA2 | c.740T= (p.Ile247=) c.371T= (p.Ile124=) c.*519T= (n.*519T=) n.938T= n.740T= | |
| 13 | g.32330977_32330978insAG | CA025057 | BRCA2 | c.740_741insAG (p.Ser249LeufsTer3) c.371_372insAG (p.Ser126LeufsTer3) c.*519_*520insAG (n.*519_*520insAG) n.938_939insAG n.740_741insAG | ClinVar dbSNP |
| 13 | g.32330978C>A | CA483274448 | BRCA2 | c.741C>A (p.Ile247=) c.372C>A (p.Ile124=) c.*520C>A (n.*520C>A) n.939C>A n.741C>A | gnomAD v4 |
| 13 | g.32330978C= | CA2082759364 | BRCA2 | c.741C= (p.Ile247=) c.372C= (p.Ile124=) c.*520C= (n.*520C=) n.939C= n.741C= | |
| 13 | g.32330978C>G | CA387760063 | BRCA2 | c.741C>G (p.Ile247Met) c.372C>G (p.Ile124Met) c.*520C>G (n.*520C>G) n.939C>G n.741C>G | ClinVar dbSNP |
| 13 | g.32330978C>T | CA025074 | BRCA2 | c.741C>T (p.Ile247=) c.372C>T (p.Ile124=) c.*520C>T (n.*520C>T) n.939C>T n.741C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330979G>A | CA025077 | BRCA2 | c.742G>A (p.Ala248Thr) c.373G>A (p.Ala125Thr) c.*521G>A (n.*521G>A) n.940G>A n.742G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330979G>C | CA387760067 | BRCA2 | c.742G>C (p.Ala248Pro) c.373G>C (p.Ala125Pro) c.*521G>C (n.*521G>C) n.940G>C n.742G>C | dbSNP |
| 13 | g.32330979G= | CA2082759372 | BRCA2 | c.742G= (p.Ala248=) c.373G= (p.Ala125=) c.*521G= (n.*521G=) n.940G= n.742G= | |
| 13 | g.32330979G>T | CA387760068 | BRCA2 | c.742G>T (p.Ala248Ser) c.373G>T (p.Ala125Ser) c.*521G>T (n.*521G>T) n.940G>T n.742G>T | dbSNP |
| 13 | g.32330979_32330980delinsGC | CA2082759370 | BRCA2 | c.742_743delinsGC (p.Ala248=) c.373_374delinsGC (p.Ala125=) c.*521_*522delinsGC (n.*521_*522delinsGC) n.940_941delinsGC n.742_743delinsGC | |
| 13 | g.32330980del | CA10589049 | BRCA2 | c.743del (p.Ala248ValfsTer3) c.374del (p.Ala125ValfsTer3) c.*522del (n.*522del) n.941del n.743del | ClinVar dbSNP |
| 13 | g.32330980C>A | CA247494241 | BRCA2 | c.743C>A (p.Ala248Asp) c.374C>A (p.Ala125Asp) c.*522C>A (n.*522C>A) n.941C>A n.743C>A | dbSNP |
| 13 | g.32330980C= | CA2082759384 | BRCA2 | c.743C= (p.Ala248=) c.374C= (p.Ala125=) c.*522C= (n.*522C=) n.941C= n.743C= | |
| 13 | g.32330980C>G | CA025091 | BRCA2 | c.743C>G (p.Ala248Gly) c.374C>G (p.Ala125Gly) c.*522C>G (n.*522C>G) n.941C>G n.743C>G | ClinVar dbSNP |
| 13 | g.32330980C>T | CA387760072 | BRCA2 | c.743C>T (p.Ala248Val) c.374C>T (p.Ala125Val) c.*522C>T (n.*522C>T) n.941C>T n.743C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32330981T>A | CA6940440 | BRCA2 | c.744T>A (p.Ala248=) c.375T>A (p.Ala125=) c.*523T>A (n.*523T>A) n.942T>A n.744T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330981T>C | CA483274453 | BRCA2 | c.744T>C (p.Ala248=) c.375T>C (p.Ala125=) c.*523T>C (n.*523T>C) n.942T>C n.744T>C | dbSNP |
| 13 | g.32330981T>G | CA483274455 | BRCA2 | c.744T>G (p.Ala248=) c.375T>G (p.Ala125=) c.*523T>G (n.*523T>G) n.942T>G n.744T>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330981T= | CA2082759392 | BRCA2 | c.744T= (p.Ala248=) c.375T= (p.Ala125=) c.*523T= (n.*523T=) n.942T= n.744T= | |
| 13 | g.32330981_32330994delinsTTCTGTGACAGACA | CA2082759396 | BRCA2 | c.744_757delinsTTCTGTGACAGACA (p.Ala248=) c.375_388delinsTTCTGTGACAGACA (p.Ala125=) c.*523_*536delinsTTCTGTGACAGACA (n.*523_*536delinsTTCTGTGACAGACA) n.942_955delinsTTCTGTGACAGACA n.744_757delinsTTCTGTGACAGACA | |
| 13 | g.32330982T>A | CA387760074 | BRCA2 | c.745T>A (p.Ser249Thr) c.376T>A (p.Ser126Thr) c.*524T>A (n.*524T>A) n.943T>A n.745T>A | |
| 13 | g.32330982T>C | CA387760076 | BRCA2 | c.745T>C (p.Ser249Pro) c.376T>C (p.Ser126Pro) c.*524T>C (n.*524T>C) n.943T>C n.745T>C | ClinVar dbSNP |
| 13 | g.32330982T>G | CA387760077 | BRCA2 | c.745T>G (p.Ser249Ala) c.376T>G (p.Ser126Ala) c.*524T>G (n.*524T>G) n.943T>G n.745T>G | ClinVar gnomAD v4 |
| 13 | g.32330982T= | CA2082759403 | BRCA2 | c.745T= (p.Ser249=) c.376T= (p.Ser126=) c.*524T= (n.*524T=) n.943T= n.745T= | |
| 13 | g.32330982_32330994del | CA645372986 | BRCA2 | c.745_757del (p.Ser249ValfsTer24) c.376_388del (p.Ser126ValfsTer24) c.*524_*536del (n.*524_*536del) n.943_955del n.745_757del | ClinVar dbSNP |
| 13 | g.32330983C>A | CA387760079 | BRCA2 | c.746C>A (p.Ser249Tyr) c.377C>A (p.Ser126Tyr) c.*525C>A (n.*525C>A) n.944C>A n.746C>A | dbSNP |
| 13 | g.32330983C>G | CA387760081 | BRCA2 | c.746C>G (p.Ser249Cys) c.377C>G (p.Ser126Cys) c.*525C>G (n.*525C>G) n.944C>G n.746C>G | dbSNP |
| 13 | g.32330983C>T | CA387760082 | BRCA2 | c.746C>T (p.Ser249Phe) c.377C>T (p.Ser126Phe) c.*525C>T (n.*525C>T) n.944C>T n.746C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330984T>A | CA338591 | BRCA2 | c.747T>A (p.Ser249=) c.378T>A (p.Ser126=) c.*526T>A (n.*526T>A) n.945T>A n.747T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330984T>C | CA483274459 | BRCA2 | c.747T>C (p.Ser249=) c.378T>C (p.Ser126=) c.*526T>C (n.*526T>C) n.945T>C n.747T>C | ClinVar |
| 13 | g.32330984T>G | CA483274458 | BRCA2 | c.747T>G (p.Ser249=) c.378T>G (p.Ser126=) c.*526T>G (n.*526T>G) n.945T>G n.747T>G | |
| 13 | g.32330984T= | CA2082759419 | BRCA2 | c.747T= (p.Ser249=) c.378T= (p.Ser126=) c.*526T= (n.*526T=) n.945T= n.747T= | |
| 13 | g.32330984_32330985delinsTG | CA2082759417 | BRCA2 | c.747_748delinsTG (p.Ser249=) c.378_379delinsTG (p.Ser126=) c.*526_*527delinsTG (n.*526_*527delinsTG) n.945_946delinsTG n.747_748delinsTG | |
| 13 | g.32330985del | CA025114 | BRCA2 | c.748del (p.Val250Ter) c.379del (p.Val127Ter) c.*527del (n.*527del) n.946del n.748del | ClinVar dbSNP |
| 13 | g.32330985G>A | CA387760086 | BRCA2 | c.748G>A (p.Val250Met) c.379G>A (p.Val127Met) c.*527G>A (n.*527G>A) n.946G>A n.748G>A | ClinVar dbSNP |
| 13 | g.32330985G>C | CA387760087 | BRCA2 | c.748G>C (p.Val250Leu) c.379G>C (p.Val127Leu) c.*527G>C (n.*527G>C) n.946G>C n.748G>C | |
| 13 | g.32330985G= | CA2082759432 | BRCA2 | c.748G= (p.Val250=) c.379G= (p.Val127=) c.*527G= (n.*527G=) n.946G= n.748G= | |
| 13 | g.32330985G>T | CA387760085 | BRCA2 | c.748G>T (p.Val250Leu) c.379G>T (p.Val127Leu) c.*527G>T (n.*527G>T) n.946G>T n.748G>T | |
| 13 | g.32330986T>A | CA387760089 | BRCA2 | c.749T>A (p.Val250Glu) c.380T>A (p.Val127Glu) c.*528T>A (n.*528T>A) n.947T>A n.749T>A | |
| 13 | g.32330986T>C | CA387760091 | BRCA2 | c.749T>C (p.Val250Ala) c.380T>C (p.Val127Ala) c.*528T>C (n.*528T>C) n.947T>C n.749T>C | |
| 13 | g.32330986T>G | CA387760092 | BRCA2 | c.749T>G (p.Val250Gly) c.380T>G (p.Val127Gly) c.*528T>G (n.*528T>G) n.947T>G n.749T>G | |
| 13 | g.32330986_32330990delinsTGACA | CA2082759435 | BRCA2 | c.749_753delinsTGACA (p.Val250=) c.380_384delinsTGACA (p.Val127=) c.*528_*532delinsTGACA (n.*528_*532delinsTGACA) n.947_951delinsTGACA n.749_753delinsTGACA | |
| 13 | g.32330987del | CA1139770844 | BRCA2 | c.750del (p.Thr251GlnfsTer26) c.381del (p.Thr128GlnfsTer26) c.*529del (n.*529del) n.948del n.750del | |
| 13 | g.32330987G>A | CA025127 | BRCA2 | c.750G>A (p.Val250=) c.381G>A (p.Val127=) c.*529G>A (n.*529G>A) n.948G>A n.750G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330987G>C | CA483274462 | BRCA2 | c.750G>C (p.Val250=) c.381G>C (p.Val127=) c.*529G>C (n.*529G>C) n.948G>C n.750G>C | ClinVar dbSNP |
| 13 | g.32330987G= | CA2082759446 | BRCA2 | c.750G= (p.Val250=) c.381G= (p.Val127=) c.*529G= (n.*529G=) n.948G= n.750G= | |
| 13 | g.32330987G>T | CA483274463 | BRCA2 | c.750G>T (p.Val250=) c.381G>T (p.Val127=) c.*529G>T (n.*529G>T) n.948G>T n.750G>T | gnomAD v4 |
| 13 | g.32330992_32330995del | CA025144 | BRCA2 | c.755_758del (p.Asp252ValfsTer24) c.386_389del (p.Asp129ValfsTer24) c.*534_*537del (n.*534_*537del) n.953_956del n.755_758del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330988A>C | CA387760095 | BRCA2 | c.751A>C (p.Thr251Pro) c.382A>C (p.Thr128Pro) c.*530A>C (n.*530A>C) n.949A>C n.751A>C | |
| 13 | g.32330988A>G | CA387760096 | BRCA2 | c.751A>G (p.Thr251Ala) c.382A>G (p.Thr128Ala) c.*530A>G (n.*530A>G) n.949A>G n.751A>G | ClinVar dbSNP COSMIC |
| 13 | g.32330988A>T | CA387760098 | BRCA2 | c.751A>T (p.Thr251Ser) c.382A>T (p.Thr128Ser) c.*530A>T (n.*530A>T) n.949A>T n.751A>T | dbSNP |
| 13 | g.32330989C>A | CA387760100 | BRCA2 | c.752C>A (p.Thr251Lys) c.383C>A (p.Thr128Lys) c.*531C>A (n.*531C>A) n.950C>A n.752C>A | |
| 13 | g.32330989C= | CA2082759470 | BRCA2 | c.752C= (p.Thr251=) c.383C= (p.Thr128=) c.*531C= (n.*531C=) n.950C= n.752C= | |
| 13 | g.32330989C>G | CA025135 | BRCA2 | c.752C>G (p.Thr251Arg) c.383C>G (p.Thr128Arg) c.*531C>G (n.*531C>G) n.950C>G n.752C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330989C>T | CA387760102 | BRCA2 | c.752C>T (p.Thr251Ile) c.383C>T (p.Thr128Ile) c.*531C>T (n.*531C>T) n.950C>T n.752C>T | ClinVar dbSNP |
| 13 | g.32330989_32330991delinsCAG | CA2082759462 | BRCA2 | c.752_754delinsCAG (p.Thr251=) c.383_385delinsCAG (p.Thr128=) c.*531_*533delinsCAG (n.*531_*533delinsCAG) n.950_952delinsCAG n.752_754delinsCAG | |
| 13 | g.32330990A>C | CA483274467 | BRCA2 | c.753A>C (p.Thr251=) c.384A>C (p.Thr128=) c.*532A>C (n.*532A>C) n.951A>C n.753A>C | |
| 13 | g.32330990A>G | CA483274468 | BRCA2 | c.753A>G (p.Thr251=) c.384A>G (p.Thr128=) c.*532A>G (n.*532A>G) n.951A>G n.753A>G | ClinVar dbSNP |
| 13 | g.32330990A>T | CA483274469 | BRCA2 | c.753A>T (p.Thr251=) c.384A>T (p.Thr128=) c.*532A>T (n.*532A>T) n.951A>T n.753A>T | dbSNP |
| 13 | g.32330991_32330992del | CA10586485 | BRCA2 | c.754_755del (p.Asp252GlnfsTer2) c.385_386del (p.Asp129GlnfsTer2) c.*533_*534del (n.*533_*534del) n.952_953del n.754_755del | ClinVar dbSNP |
| 13 | g.32330991G>A | CA025142 | BRCA2 | c.754G>A (p.Asp252Asn) c.385G>A (p.Asp129Asn) c.*533G>A (n.*533G>A) n.952G>A n.754G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330991G>C | CA387760105 | BRCA2 | c.754G>C (p.Asp252His) c.385G>C (p.Asp129His) c.*533G>C (n.*533G>C) n.952G>C n.754G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330991G= | CA2082759485 | BRCA2 | c.754G= (p.Asp252=) c.385G= (p.Asp129=) c.*533G= (n.*533G=) n.952G= n.754G= | |
| 13 | g.32330991G>T | CA387760106 | BRCA2 | c.754G>T (p.Asp252Tyr) c.385G>T (p.Asp129Tyr) c.*533G>T (n.*533G>T) n.952G>T n.754G>T | |
| 13 | g.32330991_32330992delinsGA | CA2082759481 | BRCA2 | c.754_755delinsGA (p.Asp252=) c.385_386delinsGA (p.Asp129=) c.*533_*534delinsGA (n.*533_*534delinsGA) n.952_953delinsGA n.754_755delinsGA | |
| 13 | g.32330991_32330993delinsGAC | CA2082759482 | BRCA2 | c.754_756delinsGAC (p.Asp252=) c.385_387delinsGAC (p.Asp129=) c.*533_*535delinsGAC (n.*533_*535delinsGAC) n.952_954delinsGAC n.754_756delinsGAC | |
| 13 | g.32330992del | CA025150 | BRCA2 | c.755del (p.Asp252AlafsTer25) c.386del (p.Asp129AlafsTer25) c.*534del (n.*534del) n.953del n.755del | ClinVar dbSNP |
| 13 | g.32330992A= | CA2082759508 | BRCA2 | c.755A= (p.Asp252=) c.386A= (p.Asp129=) c.*534A= (n.*534A=) n.953A= n.755A= | |
| 13 | g.32330992A>C | CA387760108 | BRCA2 | c.755A>C (p.Asp252Ala) c.386A>C (p.Asp129Ala) c.*534A>C (n.*534A>C) n.953A>C n.755A>C | |
| 13 | g.32330992A>G | CA16619649 | BRCA2 | c.755A>G (p.Asp252Gly) c.386A>G (p.Asp129Gly) c.*534A>G (n.*534A>G) n.953A>G n.755A>G | ClinVar dbSNP |
| 13 | g.32330992A>T | CA387760109 | BRCA2 | c.755A>T (p.Asp252Val) c.386A>T (p.Asp129Val) c.*534A>T (n.*534A>T) n.953A>T n.755A>T | dbSNP |
| 13 | g.32330993_32330994del | CA025155 | BRCA2 | c.756_757del (p.Asp252GlufsTer2) c.387_388del (p.Asp129GlufsTer2) c.*535_*536del (n.*535_*536del) n.954_955del n.756_757del | ClinVar dbSNP |
| 13 | g.32330992_32330996delinsACAGT | CA2082759507 | BRCA2 | c.755_759delinsACAGT (p.Asp252=) c.386_390delinsACAGT (p.Asp129=) c.*534_*538delinsACAGT (n.*534_*538delinsACAGT) n.953_957delinsACAGT n.755_759delinsACAGT | |
| 13 | g.32330993del | CA2697551716 | BRCA2 | c.756del (p.Asp252GlufsTer25) c.387del (p.Asp129GlufsTer25) c.*535del (n.*535del) n.954del n.756del | ClinVar |
| 13 | g.32330993C>A | CA387760114 | BRCA2 | c.756C>A (p.Asp252Glu) c.387C>A (p.Asp129Glu) c.*535C>A (n.*535C>A) n.954C>A n.756C>A | dbSNP |
| 13 | g.32330993C= | CA2082759516 | BRCA2 | c.756C= (p.Asp252=) c.387C= (p.Asp129=) c.*535C= (n.*535C=) n.954C= n.756C= | |
| 13 | g.32330993C>G | CA387760113 | BRCA2 | c.756C>G (p.Asp252Glu) c.387C>G (p.Asp129Glu) c.*535C>G (n.*535C>G) n.954C>G n.756C>G | dbSNP |
| 13 | g.32330993C>T | CA025159 | BRCA2 | c.756C>T (p.Asp252=) c.387C>T (p.Asp129=) c.*535C>T (n.*535C>T) n.954C>T n.756C>T | ClinVar dbSNP |
| 13 | g.32330993_32330995delinsCAG | CA2082759515 | BRCA2 | c.756_758delinsCAG (p.Asp252=) c.387_389delinsCAG (p.Asp129=) c.*535_*537delinsCAG (n.*535_*537delinsCAG) n.954_956delinsCAG n.756_758delinsCAG | |
| 13 | g.32330993_32330996del | CA025156 | BRCA2 | c.756_759del (p.Asp252GlufsTer24) c.387_390del (p.Asp129GlufsTer24) c.*535_*538del (n.*535_*538del) n.954_957del n.756_759del | ClinVar dbSNP |
| 13 | g.32330994A>C | CA387760115 | BRCA2 | c.757A>C (p.Ser253Arg) c.388A>C (p.Ser130Arg) c.*536A>C (n.*536A>C) n.955A>C n.757A>C | |
| 13 | g.32330994A>G | CA387760116 | BRCA2 | c.757A>G (p.Ser253Gly) c.388A>G (p.Ser130Gly) c.*536A>G (n.*536A>G) n.955A>G n.757A>G | dbSNP |
| 13 | g.32330994A>T | CA387760117 | BRCA2 | c.757A>T (p.Ser253Cys) c.388A>T (p.Ser130Cys) c.*536A>T (n.*536A>T) n.955A>T n.757A>T | dbSNP |
| 13 | g.32330994_32330995del | CA10589050 | BRCA2 | c.757_758del (p.Ser253Ter) c.388_389del (p.Ser130Ter) c.*536_*537del (n.*536_*537del) n.955_956del n.757_758del | ClinVar dbSNP |
| 13 | g.32330995G>A | CA387760121 | BRCA2 | c.758G>A (p.Ser253Asn) c.389G>A (p.Ser130Asn) c.*537G>A (n.*537G>A) n.956G>A n.758G>A | ClinVar dbSNP |
| 13 | g.32330995G>C | CA387760123 | BRCA2 | c.758G>C (p.Ser253Thr) c.389G>C (p.Ser130Thr) c.*537G>C (n.*537G>C) n.956G>C n.758G>C | ClinVar dbSNP |
| 13 | g.32330995G= | CA2082759528 | BRCA2 | c.758G= (p.Ser253=) c.389G= (p.Ser130=) c.*537G= (n.*537G=) n.956G= n.758G= | |
| 13 | g.32330995G>T | CA387760120 | BRCA2 | c.758G>T (p.Ser253Ile) c.389G>T (p.Ser130Ile) c.*537G>T (n.*537G>T) n.956G>T n.758G>T | |
| 13 | g.32330996del | CA2580087088 | BRCA2 | c.759del (p.Ser253ArgfsTer24) c.390del (p.Ser130ArgfsTer24) c.*538del (n.*538del) n.957del n.759del | ClinVar |
| 13 | g.32330996T>A | CA387760126 | BRCA2 | c.759T>A (p.Ser253Arg) c.390T>A (p.Ser130Arg) c.*538T>A (n.*538T>A) n.957T>A n.759T>A | dbSNP |
| 13 | g.32330996T>C | CA483274485 | BRCA2 | c.759T>C (p.Ser253=) c.390T>C (p.Ser130=) c.*538T>C (n.*538T>C) n.957T>C n.759T>C | |
| 13 | g.32330996T>G | CA387760124 | BRCA2 | c.759T>G (p.Ser253Arg) c.390T>G (p.Ser130Arg) c.*538T>G (n.*538T>G) n.957T>G n.759T>G | dbSNP |
| 13 | g.32330997G>A | CA387760127 | BRCA2 | c.760G>A (p.Glu254Lys) c.391G>A (p.Glu131Lys) c.*539G>A (n.*539G>A) n.958G>A n.760G>A | dbSNP |
| 13 | g.32330997G>C | CA387760128 | BRCA2 | c.760G>C (p.Glu254Gln) c.391G>C (p.Glu131Gln) c.*539G>C (n.*539G>C) n.958G>C n.760G>C | dbSNP gnomAD v4 |
| 13 | g.32330997G= | CA2082759535 | BRCA2 | c.760G= (p.Glu254=) c.391G= (p.Glu131=) c.*539G= (n.*539G=) n.958G= n.760G= | |
| 13 | g.32330997G>T | CA387760129 | BRCA2 | c.760G>T (p.Glu254Ter) c.391G>T (p.Glu131Ter) c.*539G>T (n.*539G>T) n.958G>T n.760G>T | ClinVar |
| 13 | g.32330997_32330998delinsTG | CA2825002121 | BRCA2 | c.760_761delinsTG (p.Glu254Ter) c.391_392delinsTG (p.Glu131Ter) c.*539_*540delinsTG (n.*539_*540delinsTG) n.958_959delinsTG n.760_761delinsTG | ClinVar |
| 13 | g.32330998A>C | CA387760131 | BRCA2 | c.761A>C (p.Glu254Ala) c.392A>C (p.Glu131Ala) c.*540A>C (n.*540A>C) n.959A>C n.761A>C | |
| 13 | g.32330998A>G | CA387760132 | BRCA2 | c.761A>G (p.Glu254Gly) c.392A>G (p.Glu131Gly) c.*540A>G (n.*540A>G) n.959A>G n.761A>G | |
| 13 | g.32330998A>T | CA387760133 | BRCA2 | c.761A>T (p.Glu254Val) c.392A>T (p.Glu131Val) c.*540A>T (n.*540A>T) n.959A>T n.761A>T | |
| 13 | g.32331001dup | CA658656371 | BRCA2 | c.764dup (p.Asn255LysfsTer21) c.395dup (p.Asn132LysfsTer21) c.*543dup (n.*543dup) n.962dup n.764dup | ClinVar dbSNP |
| 13 | g.32330999A>C | CA387760136 | BRCA2 | c.762A>C (p.Glu254Asp) c.393A>C (p.Glu131Asp) c.*541A>C (n.*541A>C) n.960A>C n.762A>C | |
| 13 | g.32330999A>G | CA483274487 | BRCA2 | c.762A>G (p.Glu254=) c.393A>G (p.Glu131=) c.*541A>G (n.*541A>G) n.960A>G n.762A>G | ClinVar dbSNP |
| 13 | g.32330999A>T | CA387760134 | BRCA2 | c.762A>T (p.Glu254Asp) c.393A>T (p.Glu131Asp) c.*541A>T (n.*541A>T) n.960A>T n.762A>T | ClinVar dbSNP |
| 13 | g.32330999_32331004delinsAAACAC | CA2082759547 | BRCA2 | c.762_767delinsAAACAC (p.Glu254=) c.393_398delinsAAACAC (p.Glu131=) c.*541_*546delinsAAACAC (n.*541_*546delinsAAACAC) n.960_965delinsAAACAC n.762_767delinsAAACAC | |
| 13 | g.32331000A= | CA2082759555 | BRCA2 | c.763A= (p.Asn255=) c.394A= (p.Asn132=) c.*542A= (n.*542A=) n.961A= n.763A= | |
| 13 | g.32331000A>C | CA387760138 | BRCA2 | c.763A>C (p.Asn255His) c.394A>C (p.Asn132His) c.*542A>C (n.*542A>C) n.961A>C n.763A>C | ClinVar dbSNP |
| 13 | g.32331000A>G | CA387760140 | BRCA2 | c.763A>G (p.Asn255Asp) c.394A>G (p.Asn132Asp) c.*542A>G (n.*542A>G) n.961A>G n.763A>G | |
| 13 | g.32331000A>T | CA387760141 | BRCA2 | c.763A>T (p.Asn255Tyr) c.394A>T (p.Asn132Tyr) c.*542A>T (n.*542A>T) n.961A>T n.763A>T | |
| 13 | g.32331000_32331002delinsAAC | CA2082759554 | BRCA2 | c.763_765delinsAAC (p.Asn255=) c.394_396delinsAAC (p.Asn132=) c.*542_*544delinsAAC (n.*542_*544delinsAAC) n.961_963delinsAAC n.763_765delinsAAC | |
| 13 | g.32331002_32331006del | CA1139663099 | BRCA2 | c.765_769del (p.Asn255LysfsTer19) c.396_400del (p.Asn132LysfsTer19) c.*544_*548del (n.*544_*548del) n.963_967del n.765_769del | ClinVar dbSNP |
| 13 | g.32331001A= | CA2082759572 | BRCA2 | c.764A= (p.Asn255=) c.395A= (p.Asn132=) c.*543A= (n.*543A=) n.962A= n.764A= | |
| 13 | g.32331001A>C | CA387760142 | BRCA2 | c.764A>C (p.Asn255Thr) c.395A>C (p.Asn132Thr) c.*543A>C (n.*543A>C) n.962A>C n.764A>C | |
| 13 | g.32331001A>G | CA387760145 | BRCA2 | c.764A>G (p.Asn255Ser) c.395A>G (p.Asn132Ser) c.*543A>G (n.*543A>G) n.962A>G n.764A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32331001A>T | CA387760147 | BRCA2 | c.764A>T (p.Asn255Ile) c.395A>T (p.Asn132Ile) c.*543A>T (n.*543A>T) n.962A>T n.764A>T | dbSNP |
| 13 | g.32331004_32331005del | CA025221 | BRCA2 | c.767_768del (p.Thr256LysfsTer19) c.398_399del (p.Thr133LysfsTer19) c.*546_*547del (n.*546_*547del) n.965_966del n.767_768del | ClinVar dbSNP |
| 13 | g.32331001_32331007delinsACACAAA | CA2082759579 | BRCA2 | c.764_770delinsACACAAA (p.Asn255=) c.395_401delinsACACAAA (p.Asn132=) c.*543_*549delinsACACAAA (n.*543_*549delinsACACAAA) n.962_968delinsACACAAA n.764_770delinsACACAAA | |
| 13 | g.32331002C>A | CA387760149 | BRCA2 | c.765C>A (p.Asn255Lys) c.396C>A (p.Asn132Lys) c.*544C>A (n.*544C>A) n.963C>A n.765C>A | |
| 13 | g.32331002C= | CA2082759587 | BRCA2 | c.765C= (p.Asn255=) c.396C= (p.Asn132=) c.*544C= (n.*544C=) n.963C= n.765C= | |
| 13 | g.32331002C>G | CA387760151 | BRCA2 | c.765C>G (p.Asn255Lys) c.396C>G (p.Asn132Lys) c.*544C>G (n.*544C>G) n.963C>G n.765C>G | dbSNP |
| 13 | g.32331002C>T | CA247494307 | BRCA2 | c.765C>T (p.Asn255=) c.396C>T (p.Asn132=) c.*544C>T (n.*544C>T) n.963C>T n.765C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32331002_32331007delinsAAACAAT | CA10589051 | BRCA2 | c.765_770delinsAAACAAT (p.Asn255LysfsTer21) c.396_401delinsAAACAAT (p.Asn132LysfsTer21) c.*544_*549delinsAAACAAT (n.*544_*549delinsAAACAAT) n.963_968delinsAAACAAT n.765_770delinsAAACAAT | ClinVar dbSNP |
| 13 | g.32331003A>C | CA387760152 | BRCA2 | c.766A>C (p.Thr256Pro) c.397A>C (p.Thr133Pro) c.*545A>C (n.*545A>C) n.964A>C n.766A>C | |
| 13 | g.32331003A>G | CA387760154 | BRCA2 | c.766A>G (p.Thr256Ala) c.397A>G (p.Thr133Ala) c.*545A>G (n.*545A>G) n.964A>G n.766A>G | |
| 13 | g.32331003A>T | CA387760156 | BRCA2 | c.766A>T (p.Thr256Ser) c.397A>T (p.Thr133Ser) c.*545A>T (n.*545A>T) n.964A>T n.766A>T | dbSNP |
| 13 | g.32331003_32331004delinsAC | CA2082759597 | BRCA2 | c.766_767delinsAC (p.Thr256=) c.397_398delinsAC (p.Thr133=) c.*545_*546delinsAC (n.*545_*546delinsAC) n.964_965delinsAC n.766_767delinsAC | |
| 13 | g.32331003_32331008delinsACAAAT | CA2082759598 | BRCA2 | c.766_771delinsACAAAT (p.Thr256=) c.397_402delinsACAAAT (p.Thr133=) c.*545_*550delinsACAAAT (n.*545_*550delinsACAAAT) n.964_969delinsACAAAT n.766_771delinsACAAAT | |
| 13 | g.32331004del | CA025224 | BRCA2 | c.767del (p.Thr256LysfsTer21) c.398del (p.Thr133LysfsTer21) c.*546del (n.*546del) n.965del n.767del | ClinVar dbSNP |
| 13 | g.32331004C>A | CA387760158 | BRCA2 | c.767C>A (p.Thr256Lys) c.398C>A (p.Thr133Lys) c.*546C>A (n.*546C>A) n.965C>A n.767C>A | gnomAD v4 |
| 13 | g.32331004C= | CA2082759617 | BRCA2 | c.767C= (p.Thr256=) c.398C= (p.Thr133=) c.*546C= (n.*546C=) n.965C= n.767C= | |
| 13 | g.32331004C>G | CA387760160 | BRCA2 | c.767C>G (p.Thr256Arg) c.398C>G (p.Thr133Arg) c.*546C>G (n.*546C>G) n.965C>G n.767C>G | ClinVar dbSNP |
| 13 | g.32331004C>T | CA16619650 | BRCA2 | c.767C>T (p.Thr256Ile) c.398C>T (p.Thr133Ile) c.*546C>T (n.*546C>T) n.965C>T n.767C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32331004_32331005delinsCA | CA2082759613 | BRCA2 | c.767_768delinsCA (p.Thr256=) c.398_399delinsCA (p.Thr133=) c.*546_*547delinsCA (n.*546_*547delinsCA) n.965_966delinsCA n.767_768delinsCA | |
| 13 | g.32331008_32331012del | CA025222 | BRCA2 | c.771_775del (p.Asn257LysfsTer17) c.402_406del (p.Asn134LysfsTer17) c.*550_*554del (n.*550_*554del) n.969_973del n.771_775del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32331005A>C | CA483274501 | BRCA2 | c.768A>C (p.Thr256=) c.399A>C (p.Thr133=) c.*547A>C (n.*547A>C) n.966A>C n.768A>C | ClinVar |
| 13 | g.32331005A>G | CA483274502 | BRCA2 | c.768A>G (p.Thr256=) c.399A>G (p.Thr133=) c.*547A>G (n.*547A>G) n.966A>G n.768A>G | dbSNP |
| 13 | g.32331005A>T | CA483274503 | BRCA2 | c.768A>T (p.Thr256=) c.399A>T (p.Thr133=) c.*547A>T (n.*547A>T) n.966A>T n.768A>T | dbSNP |
| 13 | g.32331007del | CA916080540 | BRCA2 | c.770del (p.Asn257IlefsTer20) c.401del (p.Asn134IlefsTer20) c.*549del (n.*549del) n.968del n.770del | ClinVar dbSNP |
| 13 | g.32331006A>C | CA387760163 | BRCA2 | c.769A>C (p.Asn257His) c.400A>C (p.Asn134His) c.*548A>C (n.*548A>C) n.967A>C n.769A>C | |
| 13 | g.32331006A>G | CA387760165 | BRCA2 | c.769A>G (p.Asn257Asp) c.400A>G (p.Asn134Asp) c.*548A>G (n.*548A>G) n.967A>G n.769A>G | |
| 13 | g.32331006A>T | CA387760166 | BRCA2 | c.769A>T (p.Asn257Tyr) c.400A>T (p.Asn134Tyr) c.*548A>T (n.*548A>T) n.967A>T n.769A>T | dbSNP |
| 13 | g.32331007A= | CA2082759637 | BRCA2 | c.770A= (p.Asn257=) c.401A= (p.Asn134=) c.*549A= (n.*549A=) n.968A= n.770A= | |
| 13 | g.32331007A>C | CA025241 | BRCA2 | c.770A>C (p.Asn257Thr) c.401A>C (p.Asn134Thr) c.*549A>C (n.*549A>C) n.968A>C n.770A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32331007A>G | CA387760169 | BRCA2 | c.770A>G (p.Asn257Ser) c.401A>G (p.Asn134Ser) c.*549A>G (n.*549A>G) n.968A>G n.770A>G | |
| 13 | g.32331007A>T | CA387760171 | BRCA2 | c.770A>T (p.Asn257Ile) c.401A>T (p.Asn134Ile) c.*549A>T (n.*549A>T) n.968A>T n.770A>T | ClinVar |
| 13 | g.32331008T>A | CA387760173 | BRCA2 | c.771T>A (p.Asn257Lys) c.402T>A (p.Asn134Lys) c.*550T>A (n.*550T>A) n.969T>A n.771T>A | ClinVar dbSNP |
| 13 | g.32331008T>C | CA483274506 | BRCA2 | c.771T>C (p.Asn257=) c.402T>C (p.Asn134=) c.*550T>C (n.*550T>C) n.969T>C n.771T>C | gnomAD v4 |
| 13 | g.32331008T>G | CA387760174 | BRCA2 | c.771T>G (p.Asn257Lys) c.402T>G (p.Asn134Lys) c.*550T>G (n.*550T>G) n.969T>G n.771T>G | dbSNP |
| 13 | g.32331008_32331009insTCAAA | CA247494324 | BRCA2 | c.771_772insTCAAA (p.Gln258SerfsTer21) c.402_403insTCAAA (p.Gln135SerfsTer21) c.*550_*551insTCAAA (n.*550_*551insTCAAA) n.969_970insTCAAA n.771_772insTCAAA | |
| 13 | g.32331009C>A | CA387760177 | BRCA2 | c.772C>A (p.Gln258Lys) c.403C>A (p.Gln135Lys) c.*551C>A (n.*551C>A) n.970C>A n.772C>A | dbSNP |
| 13 | g.32331009C= | CA2082759647 | BRCA2 | c.772C= (p.Gln258=) c.403C= (p.Gln135=) c.*551C= (n.*551C=) n.970C= n.772C= | |
| 13 | g.32331009C>G | CA387760178 | BRCA2 | c.772C>G (p.Gln258Glu) c.403C>G (p.Gln135Glu) c.*551C>G (n.*551C>G) n.970C>G n.772C>G | dbSNP |
| 13 | g.32331009C>T | CA025248 | BRCA2 | c.772C>T (p.Gln258Ter) c.403C>T (p.Gln135Ter) c.*551C>T (n.*551C>T) n.970C>T n.772C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32331009_32331011delinsCAA | CA2082759646 | BRCA2 | c.772_774delinsCAA (p.Gln258=) c.403_405delinsCAA (p.Gln135=) c.*551_*553delinsCAA (n.*551_*553delinsCAA) n.970_972delinsCAA n.772_774delinsCAA | |
| 13 | g.32331009_32331013delinsCAAAG | CA2082759656 | BRCA2 | c.772_776delinsCAAAG (p.Gln258=) c.403_407delinsCAAAG (p.Gln135=) c.*551_*555delinsCAAAG (n.*551_*555delinsCAAAG) n.970_974delinsCAAAG n.772_776delinsCAAAG | |
| 13 | g.32331010A= | CA2082759681 | BRCA2 | c.773A= (p.Gln258=) c.404A= (p.Gln135=) c.*552A= (n.*552A=) n.971A= n.773A= | |
| 13 | g.32331010A>C | CA387760185 | BRCA2 | c.773A>C (p.Gln258Pro) c.404A>C (p.Gln135Pro) c.*552A>C (n.*552A>C) n.971A>C n.773A>C | |
| 13 | g.32331010A>G | CA6940441 | BRCA2 | c.773A>G (p.Gln258Arg) c.404A>G (p.Gln135Arg) c.*552A>G (n.*552A>G) n.971A>G n.773A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32331010A>T | CA387760182 | BRCA2 | c.773A>T (p.Gln258Leu) c.404A>T (p.Gln135Leu) c.*552A>T (n.*552A>T) n.971A>T n.773A>T | dbSNP |
| 13 | g.32331012del | CA025263 | BRCA2 | c.775del (p.Arg259GlufsTer18) c.406del (p.Arg136GlufsTer18) c.*554del (n.*554del) n.973del n.775del | ClinVar dbSNP |
| 13 | g.32331011_32331012del | CA025252 | BRCA2 | c.774_775del (p.Glu260SerfsTer15) c.405_406del (p.Glu137SerfsTer15) c.*553_*554del (n.*553_*554del) n.972_973del n.774_775del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32331011_32331014del | CA658653665 | BRCA2 | c.774_777del (p.Arg259LysfsTer17) c.405_408del (p.Arg136LysfsTer17) c.*553_*556del (n.*553_*556del) n.972_975del n.774_777del | ClinVar dbSNP |
| 13 | g.32331010_32331017delinsAAAGAGAA | CA2082759680 | BRCA2 | c.773_780delinsAAAGAGAA (p.Gln258=) c.404_411delinsAAAGAGAA (p.Gln135=) c.*552_*559delinsAAAGAGAA (n.*552_*559delinsAAAGAGAA) n.971_978delinsAAAGAGAA n.773_780delinsAAAGAGAA | |
| 13 | g.32331012_32331017del | CA2573149308 | BRCA2 | c.775_780del (p.Arg259_Glu260del) c.406_411del (p.Arg136_Glu137del) c.*554_*559del (n.*554_*559del) n.973_978del n.775_780del | dbSNP |
| 13 | g.32331011A= | CA2082759702 | BRCA2 | c.774A= (p.Gln258=) c.405A= (p.Gln135=) c.*553A= (n.*553A=) n.972A= n.774A= | |
| 13 | g.32331011A>C | CA387760186 | BRCA2 | c.774A>C (p.Gln258His) c.405A>C (p.Gln135His) c.*553A>C (n.*553A>C) n.972A>C n.774A>C | |
| 13 | g.32331011A>G | CA483274514 | BRCA2 | c.774A>G (p.Gln258=) c.405A>G (p.Gln135=) c.*553A>G (n.*553A>G) n.972A>G n.774A>G | ClinVar dbSNP |
| 13 | g.32331011A>T | CA387760188 | BRCA2 | c.774A>T (p.Gln258His) c.405A>T (p.Gln135His) c.*553A>T (n.*553A>T) n.972A>T n.774A>T | |
| 13 | g.32331011_32331013delinsAAG | CA2082759699 | BRCA2 | c.774_776delinsAAG (p.Gln258=) c.405_407delinsAAG (p.Gln135=) c.*553_*555delinsAAG (n.*553_*555delinsAAG) n.972_974delinsAAG n.774_776delinsAAG | |
| 13 | g.32331011_32331017delinsT | CA025253 | BRCA2 | c.774_780delinsT (p.Gln258_Glu260delinsHis) c.405_411delinsT (p.Gln135_Glu137delinsHis) c.*553_*559delinsT (n.*553_*559delinsT) n.972_978delinsT n.774_780delinsT | ClinVar dbSNP |
| 13 | g.32331012A= | CA2082759714 | BRCA2 | c.775A= (p.Arg259=) c.406A= (p.Arg136=) c.*554A= (n.*554A=) n.973A= n.775A= | |
| 13 | g.32331012A>C | CA483274528 | BRCA2 | c.775A>C (p.Arg259=) c.406A>C (p.Arg136=) c.*554A>C (n.*554A>C) n.973A>C n.775A>C | |
| 13 | g.32331012A>G | CA387760192 | BRCA2 | c.775A>G (p.Arg259Gly) c.406A>G (p.Arg136Gly) c.*554A>G (n.*554A>G) n.973A>G n.775A>G | dbSNP |
| 13 | g.32331012A>T | CA025262 | BRCA2 | c.775A>T (p.Arg259Ter) c.406A>T (p.Arg136Ter) c.*554A>T (n.*554A>T) n.973A>T n.775A>T | ClinVar dbSNP |
| 13 | g.32331015_32331016del | CA025258 | BRCA2 | c.778_779del (p.Glu260SerfsTer15) c.409_410del (p.Glu137SerfsTer15) c.*557_*558del (n.*557_*558del) n.976_977del n.778_779del | ClinVar dbSNP |
| 13 | g.32331013_32331016del | CA2622599904 | BRCA2 | c.776_779del (p.Arg259LysfsTer17) c.407_410del (p.Arg136LysfsTer17) c.*555_*558del (n.*555_*558del) n.974_977del n.776_779del | gnomAD v4 |
| 13 | g.32331013G>A | CA387760193 | BRCA2 | c.776G>A (p.Arg259Lys) c.407G>A (p.Arg136Lys) c.*555G>A (n.*555G>A) n.974G>A n.776G>A | ClinVar dbSNP |
| 13 | g.32331013G>C | CA387760194 | BRCA2 | c.776G>C (p.Arg259Thr) c.407G>C (p.Arg136Thr) c.*555G>C (n.*555G>C) n.974G>C n.776G>C | dbSNP |
| 13 | g.32331013G= | CA2082759722 | BRCA2 | c.776G= (p.Arg259=) c.407G= (p.Arg136=) c.*555G= (n.*555G=) n.974G= n.776G= | |
| 13 | g.32331013G>T | CA387760195 | BRCA2 | c.776G>T (p.Arg259Ile) c.407G>T (p.Arg136Ile) c.*555G>T (n.*555G>T) n.974G>T n.776G>T | |
| 13 | g.32331014A= | CA2082759725 | BRCA2 | c.777A= (p.Arg259=) c.408A= (p.Arg136=) c.*556A= (n.*556A=) n.975A= n.777A= | |
| 13 | g.32331014A>C | CA387760196 | BRCA2 | c.777A>C (p.Arg259Ser) c.408A>C (p.Arg136Ser) c.*556A>C (n.*556A>C) n.975A>C n.777A>C | |
| 13 | g.32331014A>G | CA025272 | BRCA2 | c.777A>G (p.Arg259=) c.408A>G (p.Arg136=) c.*556A>G (n.*556A>G) n.975A>G n.777A>G | ClinVar dbSNP |
| 13 | g.32331014A>T | CA387760199 | BRCA2 | c.777A>T (p.Arg259Ser) c.408A>T (p.Arg136Ser) c.*556A>T (n.*556A>T) n.975A>T n.777A>T | dbSNP |
| 13 | g.32331015G>A | CA387760200 | BRCA2 | c.778G>A (p.Glu260Lys) c.409G>A (p.Glu137Lys) c.*557G>A (n.*557G>A) n.976G>A n.778G>A | ClinVar dbSNP |
| 13 | g.32331015G>C | CA387760201 | BRCA2 | c.778G>C (p.Glu260Gln) c.409G>C (p.Glu137Gln) c.*557G>C (n.*557G>C) n.976G>C n.778G>C | dbSNP |
| 13 | g.32331015G= | CA2082759730 | BRCA2 | c.778G= (p.Glu260=) c.409G= (p.Glu137=) c.*557G= (n.*557G=) n.976G= n.778G= | |
| 13 | g.32331015G>T | CA387760203 | BRCA2 | c.778G>T (p.Glu260Ter) c.409G>T (p.Glu137Ter) c.*557G>T (n.*557G>T) n.976G>T n.778G>T | ClinVar dbSNP |
| 13 | g.32331015_32331016delinsTC | CA2580087095 | BRCA2 | c.778_779delinsTC (p.Glu260Ser) c.409_410delinsTC (p.Glu137Ser) c.*557_*558delinsTC (n.*557_*558delinsTC) n.976_977delinsTC n.778_779delinsTC | ClinVar |
| 13 | g.32331016A= | CA2082759737 | BRCA2 | c.779A= (p.Glu260=) c.410A= (p.Glu137=) c.*558A= (n.*558A=) n.977A= n.779A= | |
| 13 | g.32331016A>C | CA387760207 | BRCA2 | c.779A>C (p.Glu260Ala) c.410A>C (p.Glu137Ala) c.*558A>C (n.*558A>C) n.977A>C n.779A>C | ClinVar |
| 13 | g.32331016A>G | CA387760209 | BRCA2 | c.779A>G (p.Glu260Gly) c.410A>G (p.Glu137Gly) c.*558A>G (n.*558A>G) n.977A>G n.779A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32331016A>T | CA387760206 | BRCA2 | c.779A>T (p.Glu260Val) c.410A>T (p.Glu137Val) c.*558A>T (n.*558A>T) n.977A>T n.779A>T | |
| 13 | g.32331017A>C | CA387760213 | BRCA2 | c.780A>C (p.Glu260Asp) c.411A>C (p.Glu137Asp) c.*559A>C (n.*559A>C) n.978A>C n.780A>C | ClinVar |
| 13 | g.32331017A>G | CA483274537 | BRCA2 | c.780A>G (p.Glu260=) c.411A>G (p.Glu137=) c.*559A>G (n.*559A>G) n.978A>G n.780A>G | dbSNP |
| 13 | g.32331017A>T | CA387760211 | BRCA2 | c.780A>T (p.Glu260Asp) c.411A>T (p.Glu137Asp) c.*559A>T (n.*559A>T) n.978A>T n.780A>T | ClinVar dbSNP |
| 13 | g.32331018G>A | CA387760214 | BRCA2 | c.781G>A (p.Ala261Thr) c.412G>A (p.Ala138Thr) c.*560G>A (n.*560G>A) n.979G>A n.781G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32331018G>C | CA387760216 | BRCA2 | c.781G>C (p.Ala261Pro) c.412G>C (p.Ala138Pro) c.*560G>C (n.*560G>C) n.979G>C n.781G>C | ClinVar dbSNP |
| 13 | g.32331018G= | CA2082759746 | BRCA2 | c.781G= (p.Ala261=) c.412G= (p.Ala138=) c.*560G= (n.*560G=) n.979G= n.781G= | |
| 13 | g.32331018G>T | CA387760219 | BRCA2 | c.781G>T (p.Ala261Ser) c.412G>T (p.Ala138Ser) c.*560G>T (n.*560G>T) n.979G>T n.781G>T | |
| 13 | g.32331019del | CA2695199245 | BRCA2 | c.782del (p.Ala261ValfsTer16) c.413del (p.Ala138ValfsTer16) c.*561del (n.*561del) n.980del n.782del | ClinVar |
| 13 | g.32331019C>A | CA387760220 | BRCA2 | c.782C>A (p.Ala261Asp) c.413C>A (p.Ala138Asp) c.*561C>A (n.*561C>A) n.980C>A n.782C>A | dbSNP gnomAD v4 |
| 13 | g.32331019C>G | CA387760222 | BRCA2 | c.782C>G (p.Ala261Gly) c.413C>G (p.Ala138Gly) c.*561C>G (n.*561C>G) n.980C>G n.782C>G | dbSNP |
| 13 | g.32331019C>T | CA387760224 | BRCA2 | c.782C>T (p.Ala261Val) c.413C>T (p.Ala138Val) c.*561C>T (n.*561C>T) n.980C>T n.782C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32331020T>A | CA483274544 | BRCA2 | c.783T>A (p.Ala261=) c.414T>A (p.Ala138=) c.*562T>A (n.*562T>A) n.981T>A n.783T>A | dbSNP |
| 13 | g.32331020T>C | CA483274542 | BRCA2 | c.783T>C (p.Ala261=) c.414T>C (p.Ala138=) c.*562T>C (n.*562T>C) n.981T>C n.783T>C | dbSNP |
| 13 | g.32331020T>G | CA483274539 | BRCA2 | c.783T>G (p.Ala261=) c.414T>G (p.Ala138=) c.*562T>G (n.*562T>G) n.981T>G n.783T>G | gnomAD v4 |
| 13 | g.32331021del | CA2499222061 | BRCA2 | c.784del (p.Ala262GlnfsTer15) c.415del (p.Ala139GlnfsTer15) c.*563del (n.*563del) n.982del n.784del | |
| 13 | g.32331021G>A | CA025308 | BRCA2 | c.784G>A (p.Ala262Thr) c.415G>A (p.Ala139Thr) c.*563G>A (n.*563G>A) n.982G>A n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32331021G>C | CA387760226 | BRCA2 | c.784G>C (p.Ala262Pro) c.415G>C (p.Ala139Pro) c.*563G>C (n.*563G>C) n.982G>C n.784G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32331021G= | CA2082759760 | BRCA2 | c.784G= (p.Ala262=) c.415G= (p.Ala139=) c.*563G= (n.*563G=) n.982G= n.784G= | |
| 13 | g.32331021G>T | CA387760228 | BRCA2 | c.784G>T (p.Ala262Ser) c.415G>T (p.Ala139Ser) c.*563G>T (n.*563G>T) n.982G>T n.784G>T | |
| 13 | g.32331022C>A | CA387760230 | BRCA2 | c.785C>A (p.Ala262Glu) c.416C>A (p.Ala139Glu) c.*564C>A (n.*564C>A) n.983C>A n.785C>A | dbSNP gnomAD v4 |
| 13 | g.32331022C= | CA2082759765 | BRCA2 | c.785C= (p.Ala262=) c.416C= (p.Ala139=) c.*564C= (n.*564C=) n.983C= n.785C= | |
| 13 | g.32331022C>G | CA387760232 | BRCA2 | c.785C>G (p.Ala262Gly) c.416C>G (p.Ala139Gly) c.*564C>G (n.*564C>G) n.983C>G n.785C>G | dbSNP |
| 13 | g.32331022C>T | CA10579472 | BRCA2 | c.785C>T (p.Ala262Val) c.416C>T (p.Ala139Val) c.*564C>T (n.*564C>T) n.983C>T n.785C>T | ClinVar dbSNP COSMIC |
| 13 | g.32331023A>C | CA483274554 | BRCA2 | c.786A>C (p.Ala262=) c.417A>C (p.Ala139=) c.*565A>C (n.*565A>C) n.984A>C n.786A>C | |
| 13 | g.32331023A>G | CA483274553 | BRCA2 | c.786A>G (p.Ala262=) c.417A>G (p.Ala139=) c.*565A>G (n.*565A>G) n.984A>G n.786A>G | ClinVar dbSNP |
| 13 | g.32331023A>T | CA483274551 | BRCA2 | c.786A>T (p.Ala262=) c.417A>T (p.Ala139=) c.*565A>T (n.*565A>T) n.984A>T n.786A>T | dbSNP |
| 13 | g.32331024dup | CA273049 | BRCA2 | c.787dup (p.Ser263LysfsTer13) c.418dup (p.Ser140LysfsTer13) c.*566dup (n.*566dup) n.985dup n.787dup | ClinVar dbSNP |
| 13 | g.32331024A>C | CA387760242 | BRCA2 | c.787A>C (p.Ser263Arg) c.418A>C (p.Ser140Arg) c.*566A>C (n.*566A>C) n.985A>C n.787A>C | ClinVar |
| 13 | g.32331024A>G | CA387760234 | BRCA2 | c.787A>G (p.Ser263Gly) c.418A>G (p.Ser140Gly) c.*566A>G (n.*566A>G) n.985A>G n.787A>G | ClinVar dbSNP |
| 13 | g.32331024A>T | CA387760240 | BRCA2 | c.787A>T (p.Ser263Cys) c.418A>T (p.Ser140Cys) c.*566A>T (n.*566A>T) n.985A>T n.787A>T | dbSNP |
| 13 | g.32331025G>A | CA387760244 | BRCA2 | c.788G>A (p.Ser263Asn) c.419G>A (p.Ser140Asn) c.*567G>A (n.*567G>A) n.986G>A n.788G>A | ClinVar dbSNP |
| 13 | g.32331025G>C | CA387760245 | BRCA2 | c.788G>C (p.Ser263Thr) c.419G>C (p.Ser140Thr) c.*567G>C (n.*567G>C) n.986G>C n.788G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32331025G= | CA2082759782 | BRCA2 | c.788G= (p.Ser263=) c.419G= (p.Ser140=) c.*567G= (n.*567G=) n.986G= n.788G= | |
| 13 | g.32331025G>T | CA387760247 | BRCA2 | c.788G>T (p.Ser263Ile) c.419G>T (p.Ser140Ile) c.*567G>T (n.*567G>T) n.986G>T n.788G>T |