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.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32337028C>A | CA483437116 | BRCA2 | c.2673C>A (p.Val891=) c.2304C>A (p.Val768=) n.2673C>A | dbSNP |
13 | g.32337028C>G | CA483437118 | BRCA2 | c.2673C>G (p.Val891=) c.2304C>G (p.Val768=) n.2673C>G | ClinVar dbSNP |
13 | g.32337028C>T | CA483437126 | BRCA2 | c.2673C>T (p.Val891=) c.2304C>T (p.Val768=) n.2673C>T | dbSNP |
13 | g.32337029T>A | CA387773393 | BRCA2 | c.2674T>A (p.Phe892Ile) c.2305T>A (p.Phe769Ile) n.2674T>A | dbSNP |
13 | g.32337029T>C | CA387773394 | BRCA2 | c.2674T>C (p.Phe892Leu) c.2305T>C (p.Phe769Leu) n.2674T>C | ClinVar dbSNP |
13 | g.32337029T>G | CA387773396 | BRCA2 | c.2674T>G (p.Phe892Val) c.2305T>G (p.Phe769Val) n.2674T>G | |
13 | g.32337029T= | CA2082810434 | BRCA2 | c.2674T= (p.Phe892=) c.2305T= (p.Phe769=) n.2674T= | |
13 | g.32337030T>A | CA387773397 | BRCA2 | c.2675T>A (p.Phe892Tyr) c.2306T>A (p.Phe769Tyr) n.2675T>A | dbSNP |
13 | g.32337030T>C | CA387773399 | BRCA2 | c.2675T>C (p.Phe892Ser) c.2306T>C (p.Phe769Ser) n.2675T>C | ClinVar |
13 | g.32337030T>G | CA387773401 | BRCA2 | c.2675T>G (p.Phe892Cys) c.2306T>G (p.Phe769Cys) n.2675T>G | |
13 | g.32337030_32337031delinsTC | CA2082810438 | BRCA2 | c.2675_2676delinsTC (p.Phe892=) c.2306_2307delinsTC (p.Phe769=) n.2675_2676delinsTC | |
13 | g.32337031C>A | CA016006 | BRCA2 | c.2676C>A (p.Phe892Leu) c.2307C>A (p.Phe769Leu) n.2676C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337031C= | CA2082810448 | BRCA2 | c.2676C= (p.Phe892=) c.2307C= (p.Phe769=) n.2676C= | |
13 | g.32337031C>G | CA387773403 | BRCA2 | c.2676C>G (p.Phe892Leu) c.2307C>G (p.Phe769Leu) n.2676C>G | dbSNP |
13 | g.32337031C>T | CA483437134 | BRCA2 | c.2676C>T (p.Phe892=) c.2307C>T (p.Phe769=) n.2676C>T | dbSNP |
13 | g.32337031_32337032del | CA2499222113 | BRCA2 | c.2676_2677del (p.Phe892LeufsTer4) c.2307_2308del (p.Phe769LeufsTer4) n.2676_2677del | ClinVar dbSNP |
13 | g.32337032del | CA10584441 | BRCA2 | c.2677del (p.Gln893LysfsTer2) c.2308del (p.Gln770LysfsTer2) n.2677del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337032C>A | CA387773406 | BRCA2 | c.2677C>A (p.Gln893Lys) c.2308C>A (p.Gln770Lys) n.2677C>A | dbSNP |
13 | g.32337032C= | CA2082810452 | BRCA2 | c.2677C= (p.Gln893=) c.2308C= (p.Gln770=) n.2677C= | |
13 | g.32337032C>G | CA387773408 | BRCA2 | c.2677C>G (p.Gln893Glu) c.2308C>G (p.Gln770Glu) n.2677C>G | dbSNP |
13 | g.32337032C>T | CA387773409 | BRCA2 | c.2677C>T (p.Gln893Ter) c.2308C>T (p.Gln770Ter) n.2677C>T | ClinVar dbSNP |
13 | g.32337033A= | CA2082810460 | BRCA2 | c.2678A= (p.Gln893=) c.2309A= (p.Gln770=) n.2678A= | |
13 | g.32337033A>C | CA387773414 | BRCA2 | c.2678A>C (p.Gln893Pro) c.2309A>C (p.Gln770Pro) n.2678A>C | |
13 | g.32337033A>G | CA016015 | BRCA2 | c.2678A>G (p.Gln893Arg) c.2309A>G (p.Gln770Arg) n.2678A>G | ClinVar dbSNP |
13 | g.32337033A>T | CA387773412 | BRCA2 | c.2678A>T (p.Gln893Leu) c.2309A>T (p.Gln770Leu) n.2678A>T | dbSNP |
13 | g.32337034A= | CA2082810464 | BRCA2 | c.2679A= (p.Gln893=) c.2310A= (p.Gln770=) n.2679A= | |
13 | g.32337034A>C | CA387773415 | BRCA2 | c.2679A>C (p.Gln893His) c.2310A>C (p.Gln770His) n.2679A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337034A>G | CA016024 | BRCA2 | c.2679A>G (p.Gln893=) c.2310A>G (p.Gln770=) n.2679A>G | ClinVar dbSNP |
13 | g.32337034A>T | CA387773417 | BRCA2 | c.2679A>T (p.Gln893His) c.2310A>T (p.Gln770His) n.2679A>T | dbSNP |
13 | g.32337035del | CA2695218015 | BRCA2 | c.2680del (p.Val894Ter) c.2311del (p.Val771Ter) n.2680del | |
13 | g.32337035G>A | CA016044 | BRCA2 | c.2680G>A (p.Val894Ile) c.2311G>A (p.Val771Ile) n.2680G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337035G>C | CA387773420 | BRCA2 | c.2680G>C (p.Val894Leu) c.2311G>C (p.Val771Leu) n.2680G>C | ClinVar dbSNP |
13 | g.32337035G= | CA2082810466 | BRCA2 | c.2680G= (p.Val894=) c.2311G= (p.Val771=) n.2680G= | |
13 | g.32337035G>T | CA387773421 | BRCA2 | c.2680G>T (p.Val894Leu) c.2311G>T (p.Val771Leu) n.2680G>T | ClinVar gnomAD v4 |
13 | g.32337036T>A | CA387773424 | BRCA2 | c.2681T>A (p.Val894Glu) c.2312T>A (p.Val771Glu) n.2681T>A | dbSNP |
13 | g.32337036T>C | CA387773425 | BRCA2 | c.2681T>C (p.Val894Ala) c.2312T>C (p.Val771Ala) n.2681T>C | dbSNP |
13 | g.32337036T>G | CA387773427 | BRCA2 | c.2681T>G (p.Val894Gly) c.2312T>G (p.Val771Gly) n.2681T>G | dbSNP |
13 | g.32337036dup | CA2580087295 | BRCA2 | c.2681dup (p.Ala895SerfsTer2) c.2312dup (p.Ala772SerfsTer2) n.2681dup | ClinVar |
13 | g.32337036_32337037delinsAG | CA16619676 | BRCA2 | c.2681_2682delinsAG (p.Val894Glu) c.2312_2313delinsAG (p.Val771Glu) n.2681_2682delinsAG | ClinVar dbSNP |
13 | g.32337036_32337037delinsTA | CA2082810469 | BRCA2 | c.2681_2682delinsTA (p.Val894=) c.2312_2313delinsTA (p.Val771=) n.2681_2682delinsTA | |
13 | g.32337037A>C | CA483437146 | BRCA2 | c.2682A>C (p.Val894=) c.2313A>C (p.Val771=) n.2682A>C | ClinVar dbSNP |
13 | g.32337037A>G | CA483437147 | BRCA2 | c.2682A>G (p.Val894=) c.2313A>G (p.Val771=) n.2682A>G | dbSNP |
13 | g.32337037A>T | CA483437155 | BRCA2 | c.2682A>T (p.Val894=) c.2313A>T (p.Val771=) n.2682A>T | ClinVar dbSNP |
13 | g.32337038G>A | CA016049 | BRCA2 | c.2683G>A (p.Ala895Thr) c.2314G>A (p.Ala772Thr) n.2683G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337038G>C | CA387773429 | BRCA2 | c.2683G>C (p.Ala895Pro) c.2314G>C (p.Ala772Pro) n.2683G>C | dbSNP |
13 | g.32337038G= | CA2082810481 | BRCA2 | c.2683G= (p.Ala895=) c.2314G= (p.Ala772=) n.2683G= | |
13 | g.32337038G>T | CA016058 | BRCA2 | c.2683G>T (p.Ala895Ser) c.2314G>T (p.Ala772Ser) n.2683G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337038_32337039delinsGC | CA2082810483 | BRCA2 | c.2683_2684delinsGC (p.Ala895=) c.2314_2315delinsGC (p.Ala772=) n.2683_2684delinsGC | |
13 | g.32337039del | CA016067 | BRCA2 | c.2684del (p.Ala895ValfsTer9) c.2315del (p.Ala772ValfsTer9) n.2684del | ClinVar dbSNP |
13 | g.32337039C>A | CA387773432 | BRCA2 | c.2684C>A (p.Ala895Asp) c.2315C>A (p.Ala772Asp) n.2684C>A | dbSNP |
13 | g.32337039C>G | CA387773434 | BRCA2 | c.2684C>G (p.Ala895Gly) c.2315C>G (p.Ala772Gly) n.2684C>G | dbSNP |
13 | g.32337039C>T | CA387773435 | BRCA2 | c.2684C>T (p.Ala895Val) c.2315C>T (p.Ala772Val) n.2684C>T | dbSNP |
13 | g.32337040T>A | CA483437159 | BRCA2 | c.2685T>A (p.Ala895=) c.2316T>A (p.Ala772=) n.2685T>A | |
13 | g.32337040T>C | CA483437162 | BRCA2 | c.2685T>C (p.Ala895=) c.2316T>C (p.Ala772=) n.2685T>C | gnomAD v4 |
13 | g.32337040T>G | CA483437161 | BRCA2 | c.2685T>G (p.Ala895=) c.2316T>G (p.Ala772=) n.2685T>G | ClinVar dbSNP |
13 | g.32337040T= | CA2082810498 | BRCA2 | c.2685T= (p.Ala895=) c.2316T= (p.Ala772=) n.2685T= | |
13 | g.32337041A= | CA2082810505 | BRCA2 | c.2686A= (p.Asn896=) c.2317A= (p.Asn773=) n.2686A= | |
13 | g.32337041A>C | CA387773440 | BRCA2 | c.2686A>C (p.Asn896His) c.2317A>C (p.Asn773His) n.2686A>C | |
13 | g.32337041A>G | CA387773438 | BRCA2 | c.2686A>G (p.Asn896Asp) c.2317A>G (p.Asn773Asp) n.2686A>G | dbSNP |
13 | g.32337041A>T | CA387773439 | BRCA2 | c.2686A>T (p.Asn896Tyr) c.2317A>T (p.Asn773Tyr) n.2686A>T | dbSNP |
13 | g.32337042A= | CA2082810520 | BRCA2 | c.2687A= (p.Asn896=) c.2318A= (p.Asn773=) n.2687A= | |
13 | g.32337042A>C | CA387773441 | BRCA2 | c.2687A>C (p.Asn896Thr) c.2318A>C (p.Asn773Thr) n.2687A>C | |
13 | g.32337042A>G | CA387773442 | BRCA2 | c.2687A>G (p.Asn896Ser) c.2318A>G (p.Asn773Ser) n.2687A>G | ClinVar |
13 | g.32337042A>T | CA387773444 | BRCA2 | c.2687A>T (p.Asn896Ile) c.2318A>T (p.Asn773Ile) n.2687A>T | ClinVar dbSNP |
13 | g.32337042_32337043insGA | CA658683842 | BRCA2 | c.2687_2688insGA (p.Asn896LysfsTer9) c.2318_2319insGA (p.Asn773LysfsTer9) n.2687_2688insGA | ClinVar dbSNP |
13 | g.32337043T>A | CA387773446 | BRCA2 | c.2688T>A (p.Asn896Lys) c.2319T>A (p.Asn773Lys) n.2688T>A | dbSNP |
13 | g.32337043T>C | CA6940623 | BRCA2 | c.2688T>C (p.Asn896=) c.2319T>C (p.Asn773=) n.2688T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337043T>G | CA387773448 | BRCA2 | c.2688T>G (p.Asn896Lys) c.2319T>G (p.Asn773Lys) n.2688T>G | ClinVar dbSNP |
13 | g.32337043T= | CA2082810531 | BRCA2 | c.2688T= (p.Asn896=) c.2319T= (p.Asn773=) n.2688T= | |
13 | g.32337043_32337048delinsTGAAAG | CA2082810528 | BRCA2 | c.2688_2693delinsTGAAAG (p.Asn896=) c.2319_2324delinsTGAAAG (p.Asn773=) n.2688_2693delinsTGAAAG | |
13 | g.32337044G>A | CA247502815 | BRCA2 | c.2689G>A (p.Glu897Lys) c.2320G>A (p.Glu774Lys) n.2689G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337044G>C | CA387773452 | BRCA2 | c.2689G>C (p.Glu897Gln) c.2320G>C (p.Glu774Gln) n.2689G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337044G= | CA2082810554 | BRCA2 | c.2689G= (p.Glu897=) c.2320G= (p.Glu774=) n.2689G= | |
13 | g.32337044G>T | CA387773453 | BRCA2 | c.2689G>T (p.Glu897Ter) c.2320G>T (p.Glu774Ter) n.2689G>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337047_32337051del | CA016075 | BRCA2 | c.2692_2696del (p.Arg898Ter) c.2323_2327del (p.Arg775Ter) n.2692_2696del | ClinVar dbSNP |
13 | g.32337045A>C | CA387773455 | BRCA2 | c.2690A>C (p.Glu897Ala) c.2321A>C (p.Glu774Ala) n.2690A>C | |
13 | g.32337045A>G | CA387773456 | BRCA2 | c.2690A>G (p.Glu897Gly) c.2321A>G (p.Glu774Gly) n.2690A>G | ClinVar |
13 | g.32337045A>T | CA387773458 | BRCA2 | c.2690A>T (p.Glu897Val) c.2321A>T (p.Glu774Val) n.2690A>T | dbSNP |
13 | g.32337046A= | CA2082810564 | BRCA2 | c.2691A= (p.Glu897=) c.2322A= (p.Glu774=) n.2691A= | |
13 | g.32337046A>C | CA387773460 | BRCA2 | c.2691A>C (p.Glu897Asp) c.2322A>C (p.Glu774Asp) n.2691A>C | |
13 | g.32337046A>G | CA483437182 | BRCA2 | c.2691A>G (p.Glu897=) c.2322A>G (p.Glu774=) n.2691A>G | ClinVar dbSNP |
13 | g.32337046A>T | CA387773459 | BRCA2 | c.2691A>T (p.Glu897Asp) c.2322A>T (p.Glu774Asp) n.2691A>T | |
13 | g.32337047A= | CA2082810570 | BRCA2 | c.2692A= (p.Arg898=) c.2323A= (p.Arg775=) n.2692A= | |
13 | g.32337047A>C | CA483437183 | BRCA2 | c.2692A>C (p.Arg898=) c.2323A>C (p.Arg775=) n.2692A>C | |
13 | g.32337047A>G | CA387773464 | BRCA2 | c.2692A>G (p.Arg898Gly) c.2323A>G (p.Arg775Gly) n.2692A>G | ClinVar dbSNP |
13 | g.32337047A>T | CA387773463 | BRCA2 | c.2692A>T (p.Arg898Trp) c.2323A>T (p.Arg775Trp) n.2692A>T | dbSNP |
13 | g.32337048G>A | CA387773466 | BRCA2 | c.2693G>A (p.Arg898Lys) c.2324G>A (p.Arg775Lys) n.2693G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337048G>C | CA016082 | BRCA2 | c.2693G>C (p.Arg898Thr) c.2324G>C (p.Arg775Thr) n.2693G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337048G= | CA2082810580 | BRCA2 | c.2693G= (p.Arg898=) c.2324G= (p.Arg775=) n.2693G= | |
13 | g.32337048G>T | CA387773468 | BRCA2 | c.2693G>T (p.Arg898Met) c.2324G>T (p.Arg775Met) n.2693G>T | dbSNP |
13 | g.32337049G>A | CA483437190 | BRCA2 | c.2694G>A (p.Arg898=) c.2325G>A (p.Arg775=) n.2694G>A | dbSNP |
13 | g.32337049G>C | CA387773470 | BRCA2 | c.2694G>C (p.Arg898Ser) c.2325G>C (p.Arg775Ser) n.2694G>C | dbSNP |
13 | g.32337049G= | CA2082810587 | BRCA2 | c.2694G= (p.Arg898=) c.2325G= (p.Arg775=) n.2694G= | |
13 | g.32337049G>T | CA387773472 | BRCA2 | c.2694G>T (p.Arg898Ser) c.2325G>T (p.Arg775Ser) n.2694G>T | ClinVar dbSNP |
13 | g.32337050A= | CA2082810596 | BRCA2 | c.2695A= (p.Asn899=) c.2326A= (p.Asn776=) n.2695A= | |
13 | g.32337050A>C | CA387773474 | BRCA2 | c.2695A>C (p.Asn899His) c.2326A>C (p.Asn776His) n.2695A>C | |
13 | g.32337050A>G | CA6940624 | BRCA2 | c.2695A>G (p.Asn899Asp) c.2326A>G (p.Asn776Asp) n.2695A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337050A>T | CA387773476 | BRCA2 | c.2695A>T (p.Asn899Tyr) c.2326A>T (p.Asn776Tyr) n.2695A>T | |
13 | g.32337051A= | CA2082810603 | BRCA2 | c.2696A= (p.Asn899=) c.2327A= (p.Asn776=) n.2696A= | |
13 | g.32337051A>C | CA387773477 | BRCA2 | c.2696A>C (p.Asn899Thr) c.2327A>C (p.Asn776Thr) n.2696A>C | |
13 | g.32337051A>G | CA387773479 | BRCA2 | c.2696A>G (p.Asn899Ser) c.2327A>G (p.Asn776Ser) n.2696A>G | ClinVar dbSNP |
13 | g.32337051A>T | CA387773480 | BRCA2 | c.2696A>T (p.Asn899Ile) c.2327A>T (p.Asn776Ile) n.2696A>T | |
13 | g.32337052T>A | CA387773484 | BRCA2 | c.2697T>A (p.Asn899Lys) c.2328T>A (p.Asn776Lys) n.2697T>A | dbSNP |
13 | g.32337052T>C | CA483437195 | BRCA2 | c.2697T>C (p.Asn899=) c.2328T>C (p.Asn776=) n.2697T>C | dbSNP |
13 | g.32337052T>G | CA387773482 | BRCA2 | c.2697T>G (p.Asn899Lys) c.2328T>G (p.Asn776Lys) n.2697T>G | dbSNP |
13 | g.32337053A= | CA2082810610 | BRCA2 | c.2698A= (p.Asn900=) c.2329A= (p.Asn777=) n.2698A= | |
13 | g.32337053A>C | CA387773485 | BRCA2 | c.2698A>C (p.Asn900His) c.2329A>C (p.Asn777His) n.2698A>C | ClinVar dbSNP |
13 | g.32337053A>G | CA016090 | BRCA2 | c.2698A>G (p.Asn900Asp) c.2329A>G (p.Asn777Asp) n.2698A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337053A>T | CA387773487 | BRCA2 | c.2698A>T (p.Asn900Tyr) c.2329A>T (p.Asn777Tyr) n.2698A>T | dbSNP |
13 | g.32337054del | CA2695218016 | BRCA2 | c.2699del (p.Asn900IlefsTer4) c.2330del (p.Asn777IlefsTer4) n.2699del | |
13 | g.32337054A= | CA2082810619 | BRCA2 | c.2699A= (p.Asn900=) c.2330A= (p.Asn777=) n.2699A= | |
13 | g.32337054A>C | CA387773489 | BRCA2 | c.2699A>C (p.Asn900Thr) c.2330A>C (p.Asn777Thr) n.2699A>C | ClinVar dbSNP |
13 | g.32337054A>G | CA387773491 | BRCA2 | c.2699A>G (p.Asn900Ser) c.2330A>G (p.Asn777Ser) n.2699A>G | dbSNP |
13 | g.32337054A>T | CA387773493 | BRCA2 | c.2699A>T (p.Asn900Ile) c.2330A>T (p.Asn777Ile) n.2699A>T | dbSNP COSMIC |
13 | g.32337055T>A | CA387773494 | BRCA2 | c.2700T>A (p.Asn900Lys) c.2331T>A (p.Asn777Lys) n.2700T>A | dbSNP |
13 | g.32337055T>C | CA483437198 | BRCA2 | c.2700T>C (p.Asn900=) c.2331T>C (p.Asn777=) n.2700T>C | ClinVar dbSNP |
13 | g.32337055T>G | CA387773496 | BRCA2 | c.2700T>G (p.Asn900Lys) c.2331T>G (p.Asn777Lys) n.2700T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337055T= | CA2082810632 | BRCA2 | c.2700T= (p.Asn900=) c.2331T= (p.Asn777=) n.2700T= | |
13 | g.32337055_32337056delinsTC | CA2082810629 | BRCA2 | c.2700_2701delinsTC (p.Asn900=) c.2331_2332delinsTC (p.Asn777=) n.2700_2701delinsTC | |
13 | g.32337056del | CA016132 | BRCA2 | c.2701del (p.Ala902LeufsTer2) c.2332del (p.Ala779LeufsTer2) n.2701del | ClinVar dbSNP gnomAD v4 |
13 | g.32337056C>A | CA387773498 | BRCA2 | c.2701C>A (p.Leu901Ile) c.2332C>A (p.Leu778Ile) n.2701C>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337056C= | CA2082810651 | BRCA2 | c.2701C= (p.Leu901=) c.2332C= (p.Leu778=) n.2701C= | |
13 | g.32337056C>G | CA387773499 | BRCA2 | c.2701C>G (p.Leu901Val) c.2332C>G (p.Leu778Val) n.2701C>G | ClinVar dbSNP |
13 | g.32337056C>T | CA387773501 | BRCA2 | c.2701C>T (p.Leu901Phe) c.2332C>T (p.Leu778Phe) n.2701C>T | dbSNP |
13 | g.32337056_32337057delinsCT | CA2082810643 | BRCA2 | c.2701_2702delinsCT (p.Leu901=) c.2332_2333delinsCT (p.Leu778=) n.2701_2702delinsCT | |
13 | g.32337057T>A | CA387773508 | BRCA2 | c.2702T>A (p.Leu901His) c.2333T>A (p.Leu778His) n.2702T>A | dbSNP |
13 | g.32337057T>C | CA387773506 | BRCA2 | c.2702T>C (p.Leu901Pro) c.2333T>C (p.Leu778Pro) n.2702T>C | ClinVar gnomAD v4 |
13 | g.32337057T>G | CA387773505 | BRCA2 | c.2702T>G (p.Leu901Arg) c.2333T>G (p.Leu778Arg) n.2702T>G | |
13 | g.32337058del | CA10589167 | BRCA2 | c.2703del (p.Ala902LeufsTer2) c.2334del (p.Ala779LeufsTer2) n.2703del | ClinVar dbSNP |
13 | g.32337058T>A | CA016141 | BRCA2 | c.2703T>A (p.Leu901=) c.2334T>A (p.Leu778=) n.2703T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337058T>C | CA483437200 | BRCA2 | c.2703T>C (p.Leu901=) c.2334T>C (p.Leu778=) n.2703T>C | ClinVar dbSNP |
13 | g.32337058T>G | CA483437201 | BRCA2 | c.2703T>G (p.Leu901=) c.2334T>G (p.Leu778=) n.2703T>G | |
13 | g.32337058T= | CA2082810675 | BRCA2 | c.2703T= (p.Leu901=) c.2334T= (p.Leu778=) n.2703T= | |
13 | g.32337059G>A | CA387773512 | BRCA2 | c.2704G>A (p.Ala902Thr) c.2335G>A (p.Ala779Thr) n.2704G>A | |
13 | g.32337059G>C | CA016149 | BRCA2 | c.2704G>C (p.Ala902Pro) c.2335G>C (p.Ala779Pro) n.2704G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337059G= | CA2082810695 | BRCA2 | c.2704G= (p.Ala902=) c.2335G= (p.Ala779=) n.2704G= | |
13 | g.32337059G>T | CA387773510 | BRCA2 | c.2704G>T (p.Ala902Ser) c.2335G>T (p.Ala779Ser) n.2704G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337059dup | CA1139663123 | BRCA2 | c.2704dup (p.Ala902GlyfsTer6) c.2335dup (p.Ala779GlyfsTer6) n.2704dup | ClinVar dbSNP |
13 | g.32337060C>A | CA387773514 | BRCA2 | c.2705C>A (p.Ala902Asp) c.2336C>A (p.Ala779Asp) n.2705C>A | ClinVar |
13 | g.32337060C= | CA2082810702 | BRCA2 | c.2705C= (p.Ala902=) c.2336C= (p.Ala779=) n.2705C= | |
13 | g.32337060C>G | CA387773516 | BRCA2 | c.2705C>G (p.Ala902Gly) c.2336C>G (p.Ala779Gly) n.2705C>G | ClinVar |
13 | g.32337060C>T | CA247502841 | BRCA2 | c.2705C>T (p.Ala902Val) c.2336C>T (p.Ala779Val) n.2705C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337060_32337067del | CA2499222114 | BRCA2 | c.2705_2712del (p.Ala902GlufsTer3) c.2336_2343del (p.Ala779GlufsTer3) n.2705_2712del | dbSNP |
13 | g.32337061T>A | CA483437204 | BRCA2 | c.2706T>A (p.Ala902=) c.2337T>A (p.Ala779=) n.2706T>A | dbSNP |
13 | g.32337061T>C | CA483437205 | BRCA2 | c.2706T>C (p.Ala902=) c.2337T>C (p.Ala779=) n.2706T>C | ClinVar dbSNP |
13 | g.32337061T>G | CA483437206 | BRCA2 | c.2706T>G (p.Ala902=) c.2337T>G (p.Ala779=) n.2706T>G | |
13 | g.32337062T>A | CA387773518 | BRCA2 | c.2707T>A (p.Leu903Ile) c.2338T>A (p.Leu780Ile) n.2707T>A | dbSNP |
13 | g.32337062T>C | CA483437207 | BRCA2 | c.2707T>C (p.Leu903=) c.2338T>C (p.Leu780=) n.2707T>C | |
13 | g.32337062T>G | CA387773520 | BRCA2 | c.2707T>G (p.Leu903Val) c.2338T>G (p.Leu780Val) n.2707T>G | |
13 | g.32337063T>A | CA387773522 | BRCA2 | c.2708T>A (p.Leu903Ter) c.2339T>A (p.Leu780Ter) n.2708T>A | dbSNP |
13 | g.32337063T>C | CA387773523 | BRCA2 | c.2708T>C (p.Leu903Ser) c.2339T>C (p.Leu780Ser) n.2708T>C | dbSNP |
13 | g.32337063T>G | CA387773524 | BRCA2 | c.2708T>G (p.Leu903Ter) c.2339T>G (p.Leu780Ter) n.2708T>G | |
13 | g.32337064A= | CA2082810713 | BRCA2 | c.2709A= (p.Leu903=) c.2340A= (p.Leu780=) n.2709A= | |
13 | g.32337064A>C | CA387773526 | BRCA2 | c.2709A>C (p.Leu903Phe) c.2340A>C (p.Leu780Phe) n.2709A>C | |
13 | g.32337064A>G | CA483437209 | BRCA2 | c.2709A>G (p.Leu903=) c.2340A>G (p.Leu780=) n.2709A>G | dbSNP |
13 | g.32337064A>T | CA387773528 | BRCA2 | c.2709A>T (p.Leu903Phe) c.2340A>T (p.Leu780Phe) n.2709A>T | dbSNP |
13 | g.32337069_32337079del | CA2727924196 | BRCA2 | c.2714_2724del (p.Asn905ThrfsTer3) c.2345_2355del (p.Asn782ThrfsTer3) n.2714_2724del | dbSNP |
13 | g.32337065G>A | CA387773532 | BRCA2 | c.2710G>A (p.Gly904Arg) c.2341G>A (p.Gly781Arg) n.2710G>A | ClinVar dbSNP |
13 | g.32337065G>C | CA387773529 | BRCA2 | c.2710G>C (p.Gly904Arg) c.2341G>C (p.Gly781Arg) n.2710G>C | dbSNP |
13 | g.32337065G>T | CA387773530 | BRCA2 | c.2710G>T (p.Gly904Ter) c.2341G>T (p.Gly781Ter) n.2710G>T | dbSNP |
13 | g.32337066dup | CA2082810719 | BRCA2 | c.2711dup (p.Asn905LysfsTer3) c.2342dup (p.Asn782LysfsTer3) n.2711dup | dbSNP |
13 | g.32337066G>A | CA387773533 | BRCA2 | c.2711G>A (p.Gly904Glu) c.2342G>A (p.Gly781Glu) n.2711G>A | ClinVar dbSNP |
13 | g.32337066G>C | CA387773534 | BRCA2 | c.2711G>C (p.Gly904Ala) c.2342G>C (p.Gly781Ala) n.2711G>C | |
13 | g.32337066G= | CA2082810725 | BRCA2 | c.2711G= (p.Gly904=) c.2342G= (p.Gly781=) n.2711G= | |
13 | g.32337066G>T | CA387773536 | BRCA2 | c.2711G>T (p.Gly904Val) c.2342G>T (p.Gly781Val) n.2711G>T | dbSNP gnomAD v4 |
13 | g.32337066_32337069dup | CA2573053804 | BRCA2 | c.2711_2714dup (p.Asn905LysfsTer4) c.2342_2345dup (p.Asn782LysfsTer4) n.2711_2714dup | ClinVar dbSNP |
13 | g.32337067A>C | CA483437210 | BRCA2 | c.2712A>C (p.Gly904=) c.2343A>C (p.Gly781=) n.2712A>C | |
13 | g.32337067A>G | CA483437211 | BRCA2 | c.2712A>G (p.Gly904=) c.2343A>G (p.Gly781=) n.2712A>G | |
13 | g.32337067A>T | CA483437212 | BRCA2 | c.2712A>T (p.Gly904=) c.2343A>T (p.Gly781=) n.2712A>T | dbSNP |
13 | g.32337068A>C | CA387773537 | BRCA2 | c.2713A>C (p.Asn905His) c.2344A>C (p.Asn782His) n.2713A>C | |
13 | g.32337068A>G | CA387773539 | BRCA2 | c.2713A>G (p.Asn905Asp) c.2344A>G (p.Asn782Asp) n.2713A>G | |
13 | g.32337068A>T | CA387773541 | BRCA2 | c.2713A>T (p.Asn905Tyr) c.2344A>T (p.Asn782Tyr) n.2713A>T | |
13 | g.32337069A= | CA2082810729 | BRCA2 | c.2714A= (p.Asn905=) c.2345A= (p.Asn782=) n.2714A= | |
13 | g.32337069A>C | CA387773543 | BRCA2 | c.2714A>C (p.Asn905Thr) c.2345A>C (p.Asn782Thr) n.2714A>C | |
13 | g.32337069A>G | CA016153 | BRCA2 | c.2714A>G (p.Asn905Ser) c.2345A>G (p.Asn782Ser) n.2714A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337069A>T | CA387773545 | BRCA2 | c.2714A>T (p.Asn905Ile) c.2345A>T (p.Asn782Ile) n.2714A>T | dbSNP |
13 | g.32337070T>A | CA387773547 | BRCA2 | c.2715T>A (p.Asn905Lys) c.2346T>A (p.Asn782Lys) n.2715T>A | dbSNP |
13 | g.32337070T>C | CA483437215 | BRCA2 | c.2715T>C (p.Asn905=) c.2346T>C (p.Asn782=) n.2715T>C | dbSNP |
13 | g.32337070T>G | CA387773548 | BRCA2 | c.2715T>G (p.Asn905Lys) c.2346T>G (p.Asn782Lys) n.2715T>G | dbSNP |
13 | g.32337070T= | CA2082810734 | BRCA2 | c.2715T= (p.Asn905=) c.2346T= (p.Asn782=) n.2715T= | |
13 | g.32337070_32337071insTA | CA2695199253 | BRCA2 | c.2715_2716insTA (p.Thr906Ter) c.2346_2347insTA (p.Thr783Ter) n.2715_2716insTA | ClinVar |
13 | g.32337071A= | CA2082810744 | BRCA2 | c.2716A= (p.Thr906=) c.2347A= (p.Thr783=) n.2716A= | |
13 | g.32337071A>C | CA387773552 | BRCA2 | c.2716A>C (p.Thr906Pro) c.2347A>C (p.Thr783Pro) n.2716A>C | |
13 | g.32337071A>G | CA016160 | BRCA2 | c.2716A>G (p.Thr906Ala) c.2347A>G (p.Thr783Ala) n.2716A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337071A>T | CA387773550 | BRCA2 | c.2716A>T (p.Thr906Ser) c.2347A>T (p.Thr783Ser) n.2716A>T | dbSNP |
13 | g.32337071dup | CA10579548 | BRCA2 | c.2716dup (p.Thr906AsnfsTer2) c.2347dup (p.Thr783AsnfsTer2) n.2716dup | ClinVar dbSNP |
13 | g.32337072C>A | CA387773556 | BRCA2 | c.2717C>A (p.Thr906Asn) c.2348C>A (p.Thr783Asn) n.2717C>A | dbSNP |
13 | g.32337072C= | CA2082810754 | BRCA2 | c.2717C= (p.Thr906=) c.2348C= (p.Thr783=) n.2717C= | |
13 | g.32337072C>G | CA387773558 | BRCA2 | c.2717C>G (p.Thr906Ser) c.2348C>G (p.Thr783Ser) n.2717C>G | dbSNP |
13 | g.32337072C>T | CA387773560 | BRCA2 | c.2717C>T (p.Thr906Ile) c.2348C>T (p.Thr783Ile) n.2717C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337073T>A | CA483437220 | BRCA2 | c.2718T>A (p.Thr906=) c.2349T>A (p.Thr783=) n.2718T>A | |
13 | g.32337073T>C | CA483437221 | BRCA2 | c.2718T>C (p.Thr906=) c.2349T>C (p.Thr783=) n.2718T>C | ClinVar |
13 | g.32337073T>G | CA483437222 | BRCA2 | c.2718T>G (p.Thr906=) c.2349T>G (p.Thr783=) n.2718T>G | |
13 | g.32337074_32337082del | CA2622601025 | BRCA2 | c.2719_2727del (p.Lys907_Leu909del) c.2350_2358del (p.Lys784_Leu786del) n.2719_2727del | gnomAD v4 |
13 | g.32337074A= | CA2082810769 | BRCA2 | c.2719A= (p.Lys907=) c.2350A= (p.Lys784=) n.2719A= | |
13 | g.32337074A>C | CA387773561 | BRCA2 | c.2719A>C (p.Lys907Gln) c.2350A>C (p.Lys784Gln) n.2719A>C | |
13 | g.32337074A>G | CA10579549 | BRCA2 | c.2719A>G (p.Lys907Glu) c.2350A>G (p.Lys784Glu) n.2719A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337074A>T | CA387773563 | BRCA2 | c.2719A>T (p.Lys907Ter) c.2350A>T (p.Lys784Ter) n.2719A>T | dbSNP |
13 | g.32337075A>C | CA387773566 | BRCA2 | c.2720A>C (p.Lys907Thr) c.2351A>C (p.Lys784Thr) n.2720A>C | dbSNP |
13 | g.32337075A>G | CA387773567 | BRCA2 | c.2720A>G (p.Lys907Arg) c.2351A>G (p.Lys784Arg) n.2720A>G | dbSNP |
13 | g.32337075A>T | CA387773569 | BRCA2 | c.2720A>T (p.Lys907Met) c.2351A>T (p.Lys784Met) n.2720A>T | dbSNP |
13 | g.32337076G>A | CA483437225 | BRCA2 | c.2721G>A (p.Lys907=) c.2352G>A (p.Lys784=) n.2721G>A | ClinVar dbSNP |
13 | g.32337076G>C | CA387773571 | BRCA2 | c.2721G>C (p.Lys907Asn) c.2352G>C (p.Lys784Asn) n.2721G>C | ClinVar dbSNP |
13 | g.32337076G>T | CA387773573 | BRCA2 | c.2721G>T (p.Lys907Asn) c.2352G>T (p.Lys784Asn) n.2721G>T | dbSNP |
13 | g.32337077G>A | CA387773575 | BRCA2 | c.2722G>A (p.Glu908Lys) c.2353G>A (p.Glu785Lys) n.2722G>A | dbSNP |
13 | g.32337077G>C | CA387773576 | BRCA2 | c.2722G>C (p.Glu908Gln) c.2353G>C (p.Glu785Gln) n.2722G>C | dbSNP |
13 | g.32337077G>T | CA387773578 | BRCA2 | c.2722G>T (p.Glu908Ter) c.2353G>T (p.Glu785Ter) n.2722G>T | ClinVar dbSNP |
13 | g.32337078A= | CA2082810796 | BRCA2 | c.2723A= (p.Glu908=) c.2354A= (p.Glu785=) n.2723A= | |
13 | g.32337078A>C | CA016168 | BRCA2 | c.2723A>C (p.Glu908Ala) c.2354A>C (p.Glu785Ala) n.2723A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337078A>G | CA387773581 | BRCA2 | c.2723A>G (p.Glu908Gly) c.2354A>G (p.Glu785Gly) n.2723A>G | dbSNP |
13 | g.32337078A>T | CA387773580 | BRCA2 | c.2723A>T (p.Glu908Val) c.2354A>T (p.Glu785Val) n.2723A>T | dbSNP |
13 | g.32337079A= | CA2082810805 | BRCA2 | c.2724A= (p.Glu908=) c.2355A= (p.Glu785=) n.2724A= | |
13 | g.32337079A>C | CA387773584 | BRCA2 | c.2724A>C (p.Glu908Asp) c.2355A>C (p.Glu785Asp) n.2724A>C | dbSNP COSMIC COSMIC |
13 | g.32337079A>G | CA247502858 | BRCA2 | c.2724A>G (p.Glu908=) c.2355A>G (p.Glu785=) n.2724A>G | ClinVar dbSNP |
13 | g.32337079A>T | CA387773585 | BRCA2 | c.2724A>T (p.Glu908Asp) c.2355A>T (p.Glu785Asp) n.2724A>T | dbSNP |
13 | g.32337079_32337080delinsCA | CA2825002132 | BRCA2 | c.2724_2725delinsCA (p.Glu908_Leu909delinsAspIle) c.2355_2356delinsCA (p.Glu785_Leu786delinsAspIle) n.2724_2725delinsCA | ClinVar |
13 | g.32337080C>A | CA10579550 | BRCA2 | c.2725C>A (p.Leu909Ile) c.2356C>A (p.Leu786Ile) n.2725C>A | ClinVar dbSNP |
13 | g.32337080C= | CA2082810812 | BRCA2 | c.2725C= (p.Leu909=) c.2356C= (p.Leu786=) n.2725C= | |
13 | g.32337080C>G | CA387773586 | BRCA2 | c.2725C>G (p.Leu909Val) c.2356C>G (p.Leu786Val) n.2725C>G | dbSNP |
13 | g.32337080C>T | CA387773587 | BRCA2 | c.2725C>T (p.Leu909Phe) c.2356C>T (p.Leu786Phe) n.2725C>T | ClinVar dbSNP |
13 | g.32337081T>A | CA387773588 | BRCA2 | c.2726T>A (p.Leu909His) c.2357T>A (p.Leu786His) n.2726T>A | dbSNP |
13 | g.32337081T>C | CA387773589 | BRCA2 | c.2726T>C (p.Leu909Pro) c.2357T>C (p.Leu786Pro) n.2726T>C | |
13 | g.32337081T>G | CA387773590 | BRCA2 | c.2726T>G (p.Leu909Arg) c.2357T>G (p.Leu786Arg) n.2726T>G | |
13 | g.32337082T>A | CA483437233 | BRCA2 | c.2727T>A (p.Leu909=) c.2358T>A (p.Leu786=) n.2727T>A | dbSNP |
13 | g.32337082T>C | CA483437234 | BRCA2 | c.2727T>C (p.Leu909=) c.2358T>C (p.Leu786=) n.2727T>C | dbSNP |
13 | g.32337082T>G | CA483437237 | BRCA2 | c.2727T>G (p.Leu909=) c.2358T>G (p.Leu786=) n.2727T>G | |
13 | g.32337083C>A | CA387773591 | BRCA2 | c.2728C>A (p.His910Asn) c.2359C>A (p.His787Asn) n.2728C>A | dbSNP |
13 | g.32337083C= | CA2082810825 | BRCA2 | c.2728C= (p.His910=) c.2359C= (p.His787=) n.2728C= | |
13 | g.32337083C>G | CA387773592 | BRCA2 | c.2728C>G (p.His910Asp) c.2359C>G (p.His787Asp) n.2728C>G | dbSNP |
13 | g.32337083C>T | CA387773593 | BRCA2 | c.2728C>T (p.His910Tyr) c.2359C>T (p.His787Tyr) n.2728C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337084A= | CA2082810834 | BRCA2 | c.2729A= (p.His910=) c.2360A= (p.His787=) n.2729A= | |
13 | g.32337084A>C | CA387773594 | BRCA2 | c.2729A>C (p.His910Pro) c.2360A>C (p.His787Pro) n.2729A>C | |
13 | g.32337084A>G | CA6940625 | BRCA2 | c.2729A>G (p.His910Arg) c.2360A>G (p.His787Arg) n.2729A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337084A>T | CA387773595 | BRCA2 | c.2729A>T (p.His910Leu) c.2360A>T (p.His787Leu) n.2729A>T | dbSNP |
13 | g.32337085T>A | CA387773597 | BRCA2 | c.2730T>A (p.His910Gln) c.2361T>A (p.His787Gln) n.2730T>A | dbSNP |
13 | g.32337085T>C | CA483437242 | BRCA2 | c.2730T>C (p.His910=) c.2361T>C (p.His787=) n.2730T>C | ClinVar |
13 | g.32337085T>G | CA387773596 | BRCA2 | c.2730T>G (p.His910Gln) c.2361T>G (p.His787Gln) n.2730T>G | dbSNP |
13 | g.32337085_32337086delinsTG | CA2082810837 | BRCA2 | c.2730_2731delinsTG (p.His910=) c.2361_2362delinsTG (p.His787=) n.2730_2731delinsTG | |
13 | g.32337086del | CA016174 | BRCA2 | c.2731del (p.Glu911LysfsTer4) c.2362del (p.Glu788LysfsTer4) n.2731del | ClinVar dbSNP |
13 | g.32337086G>A | CA387773598 | BRCA2 | c.2731G>A (p.Glu911Lys) c.2362G>A (p.Glu788Lys) n.2731G>A | dbSNP |
13 | g.32337086G>C | CA387773599 | BRCA2 | c.2731G>C (p.Glu911Gln) c.2362G>C (p.Glu788Gln) n.2731G>C | ClinVar dbSNP |
13 | g.32337086G= | CA2082810850 | BRCA2 | c.2731G= (p.Glu911=) c.2362G= (p.Glu788=) n.2731G= | |
13 | g.32337086G>T | CA387773600 | BRCA2 | c.2731G>T (p.Glu911Ter) c.2362G>T (p.Glu788Ter) n.2731G>T | dbSNP |
13 | g.32337087A>C | CA387773601 | BRCA2 | c.2732A>C (p.Glu911Ala) c.2363A>C (p.Glu788Ala) n.2732A>C | |
13 | g.32337087A>G | CA387773602 | BRCA2 | c.2732A>G (p.Glu911Gly) c.2363A>G (p.Glu788Gly) n.2732A>G | ClinVar |
13 | g.32337087A>T | CA387773603 | BRCA2 | c.2732A>T (p.Glu911Val) c.2363A>T (p.Glu788Val) n.2732A>T | dbSNP |
13 | g.32337089dup | CA2580087297 | BRCA2 | c.2734dup (p.Thr912AsnfsTer24) c.2365dup (p.Thr789AsnfsTer24) n.2734dup | ClinVar |
13 | g.32337088A>C | CA387773605 | BRCA2 | c.2733A>C (p.Glu911Asp) c.2364A>C (p.Glu788Asp) n.2733A>C | |
13 | g.32337088A>G | CA483437247 | BRCA2 | c.2733A>G (p.Glu911=) c.2364A>G (p.Glu788=) n.2733A>G | dbSNP |
13 | g.32337088A>T | CA387773604 | BRCA2 | c.2733A>T (p.Glu911Asp) c.2364A>T (p.Glu788Asp) n.2733A>T | dbSNP |
13 | g.32337089A= | CA2082810859 | BRCA2 | c.2734A= (p.Thr912=) c.2365A= (p.Thr789=) n.2734A= | |
13 | g.32337089A>C | CA387773606 | BRCA2 | c.2734A>C (p.Thr912Pro) c.2365A>C (p.Thr789Pro) n.2734A>C | |
13 | g.32337089A>G | CA387773607 | BRCA2 | c.2734A>G (p.Thr912Ala) c.2365A>G (p.Thr789Ala) n.2734A>G | ClinVar dbSNP |
13 | g.32337089A>T | CA387773608 | BRCA2 | c.2734A>T (p.Thr912Ser) c.2365A>T (p.Thr789Ser) n.2734A>T | |
13 | g.32337090C>A | CA387773609 | BRCA2 | c.2735C>A (p.Thr912Lys) c.2366C>A (p.Thr789Lys) n.2735C>A | dbSNP |
13 | g.32337090C= | CA2082810870 | BRCA2 | c.2735C= (p.Thr912=) c.2366C= (p.Thr789=) n.2735C= | |
13 | g.32337090C>G | CA6940626 | BRCA2 | c.2735C>G (p.Thr912Arg) c.2366C>G (p.Thr789Arg) n.2735C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337090C>T | CA016183 | BRCA2 | c.2735C>T (p.Thr912Ile) c.2366C>T (p.Thr789Ile) n.2735C>T | ClinVar dbSNP |
13 | g.32337091A>C | CA483437324 | BRCA2 | c.2736A>C (p.Thr912=) c.2367A>C (p.Thr789=) n.2736A>C | |
13 | g.32337091A>G | CA483437325 | BRCA2 | c.2736A>G (p.Thr912=) c.2367A>G (p.Thr789=) n.2736A>G | ClinVar |
13 | g.32337091A>T | CA483437323 | BRCA2 | c.2736A>T (p.Thr912=) c.2367A>T (p.Thr789=) n.2736A>T | |
13 | g.32337091_32337096delinsAGACTT | CA2082810879 | BRCA2 | c.2736_2741delinsAGACTT (p.Thr912=) c.2367_2372delinsAGACTT (p.Thr789=) n.2736_2741delinsAGACTT | |
13 | g.32337092G>A | CA387773612 | BRCA2 | c.2737G>A (p.Asp913Asn) c.2368G>A (p.Asp790Asn) n.2737G>A | dbSNP |
13 | g.32337092G>C | CA387773610 | BRCA2 | c.2737G>C (p.Asp913His) c.2368G>C (p.Asp790His) n.2737G>C | dbSNP |
13 | g.32337092G>T | CA387773611 | BRCA2 | c.2737G>T (p.Asp913Tyr) c.2368G>T (p.Asp790Tyr) n.2737G>T | gnomAD v4 |
13 | g.32337098_32337102del | CA016222 | BRCA2 | c.2743_2747del (p.Thr915CysfsTer19) c.2374_2378del (p.Thr792CysfsTer19) n.2743_2747del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337093A>C | CA387773613 | BRCA2 | c.2738A>C (p.Asp913Ala) c.2369A>C (p.Asp790Ala) n.2738A>C | |
13 | g.32337093A>G | CA387773614 | BRCA2 | c.2738A>G (p.Asp913Gly) c.2369A>G (p.Asp790Gly) n.2738A>G | ClinVar |
13 | g.32337093A>T | CA387773615 | BRCA2 | c.2738A>T (p.Asp913Val) c.2369A>T (p.Asp790Val) n.2738A>T | |
13 | g.32337094C>A | CA387773616 | BRCA2 | c.2739C>A (p.Asp913Glu) c.2370C>A (p.Asp790Glu) n.2739C>A | dbSNP |
13 | g.32337094C= | CA2082810896 | BRCA2 | c.2739C= (p.Asp913=) c.2370C= (p.Asp790=) n.2739C= | |
13 | g.32337094C>G | CA387773617 | BRCA2 | c.2739C>G (p.Asp913Glu) c.2370C>G (p.Asp790Glu) n.2739C>G | dbSNP |
13 | g.32337094C>T | CA016192 | BRCA2 | c.2739C>T (p.Asp913=) c.2370C>T (p.Asp790=) n.2739C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337095T>A | CA387773618 | BRCA2 | c.2740T>A (p.Leu914Met) c.2371T>A (p.Leu791Met) n.2740T>A | dbSNP |
13 | g.32337095T>C | CA483437326 | BRCA2 | c.2740T>C (p.Leu914=) c.2371T>C (p.Leu791=) n.2740T>C | ClinVar |
13 | g.32337095T>G | CA387773619 | BRCA2 | c.2740T>G (p.Leu914Val) c.2371T>G (p.Leu791Val) n.2740T>G | |
13 | g.32337096T>A | CA387773620 | BRCA2 | c.2741T>A (p.Leu914Ter) c.2372T>A (p.Leu791Ter) n.2741T>A | dbSNP |
13 | g.32337096T>C | CA387773621 | BRCA2 | c.2741T>C (p.Leu914Ser) c.2372T>C (p.Leu791Ser) n.2741T>C | |
13 | g.32337096T>G | CA387773622 | BRCA2 | c.2741T>G (p.Leu914Trp) c.2372T>G (p.Leu791Trp) n.2741T>G | |
13 | g.32337097G>A | CA483437327 | BRCA2 | c.2742G>A (p.Leu914=) c.2373G>A (p.Leu791=) n.2742G>A | ClinVar dbSNP |
13 | g.32337097G>C | CA6940627 | BRCA2 | c.2742G>C (p.Leu914Phe) c.2373G>C (p.Leu791Phe) n.2742G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337097G= | CA2082810903 | BRCA2 | c.2742G= (p.Leu914=) c.2373G= (p.Leu791=) n.2742G= | |
13 | g.32337097G>T | CA387773623 | BRCA2 | c.2742G>T (p.Leu914Phe) c.2373G>T (p.Leu791Phe) n.2742G>T | ClinVar dbSNP |
13 | g.32337098A>C | CA387773624 | BRCA2 | c.2743A>C (p.Thr915Pro) c.2374A>C (p.Thr792Pro) n.2743A>C | dbSNP |
13 | g.32337098A>G | CA387773625 | BRCA2 | c.2743A>G (p.Thr915Ala) c.2374A>G (p.Thr792Ala) n.2743A>G | dbSNP |
13 | g.32337098A>T | CA387773626 | BRCA2 | c.2743A>T (p.Thr915Ser) c.2374A>T (p.Thr792Ser) n.2743A>T | ClinVar |
13 | g.32337099C>A | CA387773627 | BRCA2 | c.2744C>A (p.Thr915Asn) c.2375C>A (p.Thr792Asn) n.2744C>A | ClinVar |
13 | g.32337099C= | CA2082810913 | BRCA2 | c.2744C= (p.Thr915=) c.2375C= (p.Thr792=) n.2744C= | |
13 | g.32337099C>G | CA016236 | BRCA2 | c.2744C>G (p.Thr915Ser) c.2375C>G (p.Thr792Ser) n.2744C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337099C>T | CA387773628 | BRCA2 | c.2744C>T (p.Thr915Ile) c.2375C>T (p.Thr792Ile) n.2744C>T | ClinVar dbSNP |
13 | g.32337099_32337101delinsCTT | CA2082810915 | BRCA2 | c.2744_2746delinsCTT (p.Thr915=) c.2375_2377delinsCTT (p.Thr792=) n.2744_2746delinsCTT | |
13 | g.32337100T>A | CA483437330 | BRCA2 | c.2745T>A (p.Thr915=) c.2376T>A (p.Thr792=) n.2745T>A | dbSNP |
13 | g.32337100T>C | CA483437329 | BRCA2 | c.2745T>C (p.Thr915=) c.2376T>C (p.Thr792=) n.2745T>C | |
13 | g.32337100T>G | CA483437328 | BRCA2 | c.2745T>G (p.Thr915=) c.2376T>G (p.Thr792=) n.2745T>G | |
13 | g.32337100_32337101del | CA10589168 | BRCA2 | c.2745_2746del (p.Val917LysfsTer18) c.2376_2377del (p.Val794LysfsTer18) n.2745_2746del | ClinVar dbSNP |
13 | g.32337101_32337105dup | CA2573149398 | BRCA2 | c.2746_2750dup (p.Asn918ValfsTer2) c.2377_2381dup (p.Asn795ValfsTer2) n.2746_2750dup | ClinVar dbSNP |
13 | g.32337101T>A | CA387773631 | BRCA2 | c.2746T>A (p.Cys916Ser) c.2377T>A (p.Cys793Ser) n.2746T>A | dbSNP |
13 | g.32337101T>C | CA387773630 | BRCA2 | c.2746T>C (p.Cys916Arg) c.2377T>C (p.Cys793Arg) n.2746T>C | |
13 | g.32337101T>G | CA387773629 | BRCA2 | c.2746T>G (p.Cys916Gly) c.2377T>G (p.Cys793Gly) n.2746T>G | |
13 | g.32337102G>A | CA387773632 | BRCA2 | c.2747G>A (p.Cys916Tyr) c.2378G>A (p.Cys793Tyr) n.2747G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337102G>C | CA387773633 | BRCA2 | c.2747G>C (p.Cys916Ser) c.2378G>C (p.Cys793Ser) n.2747G>C | ClinVar gnomAD v4 |
13 | g.32337102G= | CA2082810930 | BRCA2 | c.2747G= (p.Cys916=) c.2378G= (p.Cys793=) n.2747G= | |
13 | g.32337102G>T | CA387773634 | BRCA2 | c.2747G>T (p.Cys916Phe) c.2378G>T (p.Cys793Phe) n.2747G>T | ClinVar dbSNP |
13 | g.32337102_32337103delinsGT | CA2082810929 | BRCA2 | c.2747_2748delinsGT (p.Cys916=) c.2378_2379delinsGT (p.Cys793=) n.2747_2748delinsGT | |
13 | g.32337103del | CA10589169 | BRCA2 | c.2748del (p.Cys916TrpfsTer2) c.2379del (p.Cys793TrpfsTer2) n.2748del | ClinVar dbSNP |
13 | g.32337103T>A | CA016242 | BRCA2 | c.2748T>A (p.Cys916Ter) c.2379T>A (p.Cys793Ter) n.2748T>A | ClinVar dbSNP |
13 | g.32337103T>C | CA483437331 | BRCA2 | c.2748T>C (p.Cys916=) c.2379T>C (p.Cys793=) n.2748T>C | gnomAD v4 |
13 | g.32337103T>G | CA387773635 | BRCA2 | c.2748T>G (p.Cys916Trp) c.2379T>G (p.Cys793Trp) n.2748T>G | dbSNP |
13 | g.32337103T= | CA2082810947 | BRCA2 | c.2748T= (p.Cys916=) c.2379T= (p.Cys793=) n.2748T= | |
13 | g.32337104G>A | CA387773636 | BRCA2 | c.2749G>A (p.Val917Ile) c.2380G>A (p.Val794Ile) n.2749G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337104G>C | CA387773638 | BRCA2 | c.2749G>C (p.Val917Leu) c.2380G>C (p.Val794Leu) n.2749G>C | dbSNP |
13 | g.32337104G= | CA2082810956 | BRCA2 | c.2749G= (p.Val917=) c.2380G= (p.Val794=) n.2749G= | |
13 | g.32337104G>T | CA387773637 | BRCA2 | c.2749G>T (p.Val917Leu) c.2380G>T (p.Val794Leu) n.2749G>T | dbSNP |
13 | g.32337105T>A | CA387773639 | BRCA2 | c.2750T>A (p.Val917Glu) c.2381T>A (p.Val794Glu) n.2750T>A | ClinVar |
13 | g.32337105T>C | CA16020671 | BRCA2 | c.2750T>C (p.Val917Ala) c.2381T>C (p.Val794Ala) n.2750T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337105T>G | CA387773640 | BRCA2 | c.2750T>G (p.Val917Gly) c.2381T>G (p.Val794Gly) n.2750T>G | |
13 | g.32337105T= | CA2082810964 | BRCA2 | c.2750T= (p.Val917=) c.2381T= (p.Val794=) n.2750T= | |
13 | g.32337105_32337106delinsTA | CA2082810963 | BRCA2 | c.2750_2751delinsTA (p.Val917=) c.2381_2382delinsTA (p.Val794=) n.2750_2751delinsTA | |
13 | g.32337106A= | CA2082810980 | BRCA2 | c.2751A= (p.Val917=) c.2382A= (p.Val794=) n.2751A= | |
13 | g.32337106A>C | CA483437334 | BRCA2 | c.2751A>C (p.Val917=) c.2382A>C (p.Val794=) n.2751A>C | |
13 | g.32337106A>G | CA016257 | BRCA2 | c.2751A>G (p.Val917=) c.2382A>G (p.Val794=) n.2751A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337106A>T | CA483437335 | BRCA2 | c.2751A>T (p.Val917=) c.2382A>T (p.Val794=) n.2751A>T | dbSNP |
13 | g.32337108del | CA10589170 | BRCA2 | c.2753del (p.Asn918ThrfsTer?) c.2384del (p.Asn795ThrfsTer?) n.2753del | ClinVar dbSNP gnomAD v4 |
13 | g.32337107A= | CA2082810988 | BRCA2 | c.2752A= (p.Asn918=) c.2383A= (p.Asn795=) n.2752A= | |
13 | g.32337107A>C | CA387773641 | BRCA2 | c.2752A>C (p.Asn918His) c.2383A>C (p.Asn795His) n.2752A>C | dbSNP |
13 | g.32337107A>G | CA387773642 | BRCA2 | c.2752A>G (p.Asn918Asp) c.2383A>G (p.Asn795Asp) n.2752A>G | dbSNP |
13 | g.32337107A>T | CA387773643 | BRCA2 | c.2752A>T (p.Asn918Tyr) c.2383A>T (p.Asn795Tyr) n.2752A>T | dbSNP |
13 | g.32337108A>C | CA387773644 | BRCA2 | c.2753A>C (p.Asn918Thr) c.2384A>C (p.Asn795Thr) n.2753A>C | dbSNP |
13 | g.32337108A>G | CA387773645 | BRCA2 | c.2753A>G (p.Asn918Ser) c.2384A>G (p.Asn795Ser) n.2753A>G | ClinVar dbSNP |
13 | g.32337108A>T | CA387773646 | BRCA2 | c.2753A>T (p.Asn918Ile) c.2384A>T (p.Asn795Ile) n.2753A>T | dbSNP |
13 | g.32337108_32337109delinsAC | CA2082810989 | BRCA2 | c.2753_2754delinsAC (p.Asn918=) c.2384_2385delinsAC (p.Asn795=) n.2753_2754delinsAC | |
13 | g.32337109del | CA645509341 | BRCA2 | c.2754del (p.Asn918LysfsTer?) c.2385del (p.Asn795LysfsTer?) n.2754del | ClinVar dbSNP |
13 | g.32337109C>A | CA387773647 | BRCA2 | c.2754C>A (p.Asn918Lys) c.2385C>A (p.Asn795Lys) n.2754C>A | dbSNP |
13 | g.32337109C= | CA2082810991 | BRCA2 | c.2754C= (p.Asn918=) c.2385C= (p.Asn795=) n.2754C= | |
13 | g.32337109C>G | CA387773648 | BRCA2 | c.2754C>G (p.Asn918Lys) c.2385C>G (p.Asn795Lys) n.2754C>G | ClinVar dbSNP |
13 | g.32337109C>T | CA016262 | BRCA2 | c.2754C>T (p.Asn918=) c.2385C>T (p.Asn795=) n.2754C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337110G>A | CA016270 | BRCA2 | c.2755G>A (p.Glu919Lys) c.2386G>A (p.Glu796Lys) n.2755G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337110G>C | CA387773650 | BRCA2 | c.2755G>C (p.Glu919Gln) c.2386G>C (p.Glu796Gln) n.2755G>C | ClinVar dbSNP |
13 | g.32337110G= | CA2082811000 | BRCA2 | c.2755G= (p.Glu919=) c.2386G= (p.Glu796=) n.2755G= | |
13 | g.32337110G>T | CA387773649 | BRCA2 | c.2755G>T (p.Glu919Ter) c.2386G>T (p.Glu796Ter) n.2755G>T | ClinVar dbSNP |
13 | g.32337111A>C | CA387773651 | BRCA2 | c.2756A>C (p.Glu919Ala) c.2387A>C (p.Glu796Ala) n.2756A>C | dbSNP |
13 | g.32337111A>G | CA387773652 | BRCA2 | c.2756A>G (p.Glu919Gly) c.2387A>G (p.Glu796Gly) n.2756A>G | |
13 | g.32337111A>T | CA387773653 | BRCA2 | c.2756A>T (p.Glu919Val) c.2387A>T (p.Glu796Val) n.2756A>T | dbSNP |
13 | g.32337112del | CA1139768291 | BRCA2 | c.2757del (p.Glu919AspfsTer?) c.2388del (p.Glu796AspfsTer?) n.2757del | |
13 | g.32337112A= | CA2082811028 | BRCA2 | c.2757A= (p.Glu919=) c.2388A= (p.Glu796=) n.2757A= | |
13 | g.32337112A>C | CA387773654 | BRCA2 | c.2757A>C (p.Glu919Asp) c.2388A>C (p.Glu796Asp) n.2757A>C | dbSNP |
13 | g.32337112A>G | CA483437340 | BRCA2 | c.2757A>G (p.Glu919=) c.2388A>G (p.Glu796=) n.2757A>G | dbSNP |
13 | g.32337112A>T | CA387773655 | BRCA2 | c.2757A>T (p.Glu919Asp) c.2388A>T (p.Glu796Asp) n.2757A>T | |
13 | g.32337112_32337113delinsAC | CA2082811023 | BRCA2 | c.2757_2758delinsAC (p.Glu919=) c.2388_2389delinsAC (p.Glu796=) n.2757_2758delinsAC | |
13 | g.32337112_32337113insATGG | CA658823637 | BRCA2 | c.2757_2758insATGG (p.Pro920MetfsTer17) c.2388_2389insATGG (p.Pro797MetfsTer17) n.2757_2758insATGG | ClinVar dbSNP |
13 | g.32337113C>A | CA016278 | BRCA2 | c.2758C>A (p.Pro920Thr) c.2389C>A (p.Pro797Thr) n.2758C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337113C= | CA2082811058 | BRCA2 | c.2758C= (p.Pro920=) c.2389C= (p.Pro797=) n.2758C= | |
13 | g.32337113C>G | CA387773656 | BRCA2 | c.2758C>G (p.Pro920Ala) c.2389C>G (p.Pro797Ala) n.2758C>G | dbSNP |
13 | g.32337113C>T | CA016284 | BRCA2 | c.2758C>T (p.Pro920Ser) c.2389C>T (p.Pro797Ser) n.2758C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32337115del | CA016290 | BRCA2 | c.2760del (p.Ile921PhefsTer?) c.2391del (p.Ile798PhefsTer?) n.2760del | ClinVar dbSNP |
13 | g.32337113_32337114insATGG | CA10589171 | BRCA2 | c.2758_2759insATGG (p.Pro920HisfsTer17) c.2389_2390insATGG (p.Pro797HisfsTer17) n.2758_2759insATGG | ClinVar dbSNP |
13 | g.32337114C>A | CA387773657 | BRCA2 | c.2759C>A (p.Pro920His) c.2390C>A (p.Pro797His) n.2759C>A | dbSNP |
13 | g.32337114C= | CA2082811085 | BRCA2 | c.2759C= (p.Pro920=) c.2390C= (p.Pro797=) n.2759C= | |
13 | g.32337114C>G | CA387773658 | BRCA2 | c.2759C>G (p.Pro920Arg) c.2390C>G (p.Pro797Arg) n.2759C>G | ClinVar dbSNP |
13 | g.32337114C>T | CA387773659 | BRCA2 | c.2759C>T (p.Pro920Leu) c.2390C>T (p.Pro797Leu) n.2759C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337115C>A | CA483437347 | BRCA2 | c.2760C>A (p.Pro920=) c.2391C>A (p.Pro797=) n.2760C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337115C>G | CA483437348 | BRCA2 | c.2760C>G (p.Pro920=) c.2391C>G (p.Pro797=) n.2760C>G | dbSNP |
13 | g.32337115C>T | CA483437349 | BRCA2 | c.2760C>T (p.Pro920=) c.2391C>T (p.Pro797=) n.2760C>T | ClinVar dbSNP |
13 | g.32337116A= | CA2082811092 | BRCA2 | c.2761A= (p.Ile921=) c.2392A= (p.Ile798=) n.2761A= | |
13 | g.32337116A>C | CA387773660 | BRCA2 | c.2761A>C (p.Ile921Leu) c.2392A>C (p.Ile798Leu) n.2761A>C | |
13 | g.32337116A>G | CA387773662 | BRCA2 | c.2761A>G (p.Ile921Val) c.2392A>G (p.Ile798Val) n.2761A>G | ClinVar dbSNP |
13 | g.32337116A>T | CA387773661 | BRCA2 | c.2761A>T (p.Ile921Phe) c.2392A>T (p.Ile798Phe) n.2761A>T | |
13 | g.32337117T>A | CA387773663 | BRCA2 | c.2762T>A (p.Ile921Asn) c.2393T>A (p.Ile798Asn) n.2762T>A | dbSNP |
13 | g.32337117T>C | CA387773664 | BRCA2 | c.2762T>C (p.Ile921Thr) c.2393T>C (p.Ile798Thr) n.2762T>C | |
13 | g.32337117T>G | CA387773665 | BRCA2 | c.2762T>G (p.Ile921Ser) c.2393T>G (p.Ile798Ser) n.2762T>G | |
13 | g.32337120dup | CA016303 | BRCA2 | c.2765dup (p.Lys923GlnfsTer13) c.2396dup (p.Lys800GlnfsTer13) n.2765dup | ClinVar dbSNP |
13 | g.32337118T>A | CA483437358 | BRCA2 | c.2763T>A (p.Ile921=) c.2394T>A (p.Ile798=) n.2763T>A | dbSNP |
13 | g.32337118T>C | CA483437359 | BRCA2 | c.2763T>C (p.Ile921=) c.2394T>C (p.Ile798=) n.2763T>C | dbSNP |
13 | g.32337118T>G | CA387773666 | BRCA2 | c.2763T>G (p.Ile921Met) c.2394T>G (p.Ile798Met) n.2763T>G | |
13 | g.32337118_32337132delinsTTTCAAGAACTCTAC | CA2082811108 | BRCA2 | c.2763_2777delinsTTTCAAGAACTCTAC (p.Ile921=) c.2394_2408delinsTTTCAAGAACTCTAC (p.Ile798=) n.2763_2777delinsTTTCAAGAACTCTAC | |
13 | g.32337119T>A | CA387773667 | BRCA2 | c.2764T>A (p.Phe922Ile) c.2395T>A (p.Phe799Ile) n.2764T>A | dbSNP |
13 | g.32337119T>C | CA387773668 | BRCA2 | c.2764T>C (p.Phe922Leu) c.2395T>C (p.Phe799Leu) n.2764T>C | |
13 | g.32337119T>G | CA387773669 | BRCA2 | c.2764T>G (p.Phe922Val) c.2395T>G (p.Phe799Val) n.2764T>G | |
13 | g.32337119_32337132del | CA10589172 | BRCA2 | c.2764_2777del (p.Phe922HisfsTer9) c.2395_2408del (p.Phe799HisfsTer9) n.2764_2777del | ClinVar dbSNP |
13 | g.32337120T>A | CA387773670 | BRCA2 | c.2765T>A (p.Phe922Tyr) c.2396T>A (p.Phe799Tyr) n.2765T>A | dbSNP |
13 | g.32337120T>C | CA387773671 | BRCA2 | c.2765T>C (p.Phe922Ser) c.2396T>C (p.Phe799Ser) n.2765T>C | dbSNP |
13 | g.32337120T>G | CA387773672 | BRCA2 | c.2765T>G (p.Phe922Cys) c.2396T>G (p.Phe799Cys) n.2765T>G | ClinVar dbSNP |
13 | g.32337120T= | CA2082811125 | BRCA2 | c.2765T= (p.Phe922=) c.2396T= (p.Phe799=) n.2765T= | |
13 | g.32337121C>A | CA6940628 | BRCA2 | c.2766C>A (p.Phe922Leu) c.2397C>A (p.Phe799Leu) n.2766C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337121C= | CA2082811137 | BRCA2 | c.2766C= (p.Phe922=) c.2397C= (p.Phe799=) n.2766C= | |
13 | g.32337121C>G | CA387773673 | BRCA2 | c.2766C>G (p.Phe922Leu) c.2397C>G (p.Phe799Leu) n.2766C>G | dbSNP |
13 | g.32337121C>T | CA483437370 | BRCA2 | c.2766C>T (p.Phe922=) c.2397C>T (p.Phe799=) n.2766C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337122A= | CA2082811146 | BRCA2 | c.2767A= (p.Lys923=) c.2398A= (p.Lys800=) n.2767A= | |
13 | g.32337122A>C | CA387773674 | BRCA2 | c.2767A>C (p.Lys923Gln) c.2398A>C (p.Lys800Gln) n.2767A>C | |
13 | g.32337122A>G | CA387773675 | BRCA2 | c.2767A>G (p.Lys923Glu) c.2398A>G (p.Lys800Glu) n.2767A>G | ClinVar dbSNP |
13 | g.32337122A>T | CA387773676 | BRCA2 | c.2767A>T (p.Lys923Ter) c.2398A>T (p.Lys800Ter) n.2767A>T | dbSNP |
13 | g.32337123A= | CA2082811148 | BRCA2 | c.2768A= (p.Lys923=) c.2399A= (p.Lys800=) n.2768A= | |
13 | g.32337123A>C | CA387773677 | BRCA2 | c.2768A>C (p.Lys923Thr) c.2399A>C (p.Lys800Thr) n.2768A>C | |
13 | g.32337123A>G | CA387773678 | BRCA2 | c.2768A>G (p.Lys923Arg) c.2399A>G (p.Lys800Arg) n.2768A>G | ClinVar dbSNP |
13 | g.32337123A>T | CA387773679 | BRCA2 | c.2768A>T (p.Lys923Met) c.2399A>T (p.Lys800Met) n.2768A>T | dbSNP |
13 | g.32337124G>A | CA483437375 | BRCA2 | c.2769G>A (p.Lys923=) c.2400G>A (p.Lys800=) n.2769G>A | dbSNP |
13 | g.32337124G>C | CA387773681 | BRCA2 | c.2769G>C (p.Lys923Asn) c.2400G>C (p.Lys800Asn) n.2769G>C | dbSNP |
13 | g.32337124G>T | CA387773680 | BRCA2 | c.2769G>T (p.Lys923Asn) c.2400G>T (p.Lys800Asn) n.2769G>T | ClinVar dbSNP |
13 | g.32337125A>C | CA387773682 | BRCA2 | c.2770A>C (p.Asn924His) c.2401A>C (p.Asn801His) n.2770A>C | dbSNP |
13 | g.32337125A>G | CA387773683 | BRCA2 | c.2770A>G (p.Asn924Asp) c.2401A>G (p.Asn801Asp) n.2770A>G | dbSNP |
13 | g.32337125A>T | CA387773684 | BRCA2 | c.2770A>T (p.Asn924Tyr) c.2401A>T (p.Asn801Tyr) n.2770A>T | dbSNP |
13 | g.32337126A= | CA2082811157 | BRCA2 | c.2771A= (p.Asn924=) c.2402A= (p.Asn801=) n.2771A= | |
13 | g.32337126A>C | CA387773685 | BRCA2 | c.2771A>C (p.Asn924Thr) c.2402A>C (p.Asn801Thr) n.2771A>C | |
13 | g.32337126A>G | CA387773686 | BRCA2 | c.2771A>G (p.Asn924Ser) c.2402A>G (p.Asn801Ser) n.2771A>G | |
13 | g.32337126A>T | CA016313 | BRCA2 | c.2771A>T (p.Asn924Ile) c.2402A>T (p.Asn801Ile) n.2771A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337126_32337128delinsACT | CA2082811163 | BRCA2 | c.2771_2773delinsACT (p.Asn924=) c.2402_2404delinsACT (p.Asn801=) n.2771_2773delinsACT | |
13 | g.32337127C>A | CA387773687 | BRCA2 | c.2772C>A (p.Asn924Lys) c.2403C>A (p.Asn801Lys) n.2772C>A | dbSNP |
13 | g.32337127C= | CA2082811174 | BRCA2 | c.2772C= (p.Asn924=) c.2403C= (p.Asn801=) n.2772C= | |
13 | g.32337127C>G | CA387773688 | BRCA2 | c.2772C>G (p.Asn924Lys) c.2403C>G (p.Asn801Lys) n.2772C>G | dbSNP |
13 | g.32337127C>T | CA10579551 | BRCA2 | c.2772C>T (p.Asn924=) c.2403C>T (p.Asn801=) n.2772C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337127_32337130del | CA2580087298 | BRCA2 | c.2772_2775del (p.Asn924LysfsTer?) c.2403_2406del (p.Asn801LysfsTer?) n.2772_2775del | ClinVar |
13 | g.32337127_32337130delinsCTCT | CA2082811179 | BRCA2 | c.2772_2775delinsCTCT (p.Asn924=) c.2403_2406delinsCTCT (p.Asn801=) n.2772_2775delinsCTCT | |
13 | g.32337129_32337130del | CA016331 | BRCA2 | c.2774_2775del (p.Ser925TyrfsTer10) c.2405_2406del (p.Ser802TyrfsTer10) n.2774_2775del | ClinVar dbSNP gnomAD v4 |
13 | g.32337128T>A | CA387773689 | BRCA2 | c.2773T>A (p.Ser925Thr) c.2404T>A (p.Ser802Thr) n.2773T>A | dbSNP |
13 | g.32337128T>C | CA387773690 | BRCA2 | c.2773T>C (p.Ser925Pro) c.2404T>C (p.Ser802Pro) n.2773T>C | ClinVar dbSNP |
13 | g.32337128T>G | CA387773691 | BRCA2 | c.2773T>G (p.Ser925Ala) c.2404T>G (p.Ser802Ala) n.2773T>G | |
13 | g.32337128T= | CA2082811194 | BRCA2 | c.2773T= (p.Ser925=) c.2404T= (p.Ser802=) n.2773T= | |
13 | g.32337128dup | CA016320 | BRCA2 | c.2773dup (p.Ser925PhefsTer11) c.2404dup (p.Ser802PhefsTer11) n.2773dup | ClinVar dbSNP |
13 | g.32337128_32337130delinsGA | CA1139663125 | BRCA2 | c.2773_2775delinsGA (p.Ser925GlufsTer?) c.2404_2406delinsGA (p.Ser802GlufsTer?) n.2773_2775delinsGA | ClinVar dbSNP |