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.32336909_32336914delinsT | CA2580614658 | BRCA2 | c.2554_2559delinsT (p.Asn852Ter) c.2185_2190delinsT (p.Asn729Ter) n.2554_2559delinsT | ClinVar |
13 | g.32336913A= | CA2082809518 | BRCA2 | c.2558A= (p.Gln853=) c.2189A= (p.Gln730=) n.2558A= | |
13 | g.32336913A>C | CA387772541 | BRCA2 | c.2558A>C (p.Gln853Pro) c.2189A>C (p.Gln730Pro) n.2558A>C | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32336913A>G | CA015641 | BRCA2 | c.2558A>G (p.Gln853Arg) c.2189A>G (p.Gln730Arg) n.2558A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336913A>T | CA387772540 | BRCA2 | c.2558A>T (p.Gln853Leu) c.2189A>T (p.Gln730Leu) n.2558A>T | |
13 | g.32336916dup | CA1139770849 | BRCA2 | c.2561dup (p.Asn854LysfsTer27) c.2192dup (p.Asn731LysfsTer27) n.2561dup | |
13 | g.32336914A>C | CA387772543 | BRCA2 | c.2559A>C (p.Gln853His) c.2190A>C (p.Gln730His) n.2559A>C | dbSNP |
13 | g.32336914A>G | CA483437294 | BRCA2 | c.2559A>G (p.Gln853=) c.2190A>G (p.Gln730=) n.2559A>G | |
13 | g.32336914A>T | CA387772542 | BRCA2 | c.2559A>T (p.Gln853His) c.2190A>T (p.Gln730His) n.2559A>T | dbSNP |
13 | g.32336915A= | CA2082809529 | BRCA2 | c.2560A= (p.Asn854=) c.2191A= (p.Asn731=) n.2560A= | |
13 | g.32336915A>C | CA387772544 | BRCA2 | c.2560A>C (p.Asn854His) c.2191A>C (p.Asn731His) n.2560A>C | |
13 | g.32336915A>G | CA387772545 | BRCA2 | c.2560A>G (p.Asn854Asp) c.2191A>G (p.Asn731Asp) n.2560A>G | ClinVar dbSNP |
13 | g.32336915A>T | CA387772546 | BRCA2 | c.2560A>T (p.Asn854Tyr) c.2191A>T (p.Asn731Tyr) n.2560A>T | dbSNP |
13 | g.32336915_32336917delinsAAC | CA2082809526 | BRCA2 | c.2560_2562delinsAAC (p.Asn854=) c.2191_2193delinsAAC (p.Asn731=) n.2560_2562delinsAAC | |
13 | g.32336916A= | CA2082809540 | BRCA2 | c.2561A= (p.Asn854=) c.2192A= (p.Asn731=) n.2561A= | |
13 | g.32336916A>C | CA387772547 | BRCA2 | c.2561A>C (p.Asn854Thr) c.2192A>C (p.Asn731Thr) n.2561A>C | |
13 | g.32336916A>G | CA015650 | BRCA2 | c.2561A>G (p.Asn854Ser) c.2192A>G (p.Asn731Ser) n.2561A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336916A>T | CA387772548 | BRCA2 | c.2561A>T (p.Asn854Ile) c.2192A>T (p.Asn731Ile) n.2561A>T | dbSNP |
13 | g.32336919_32336920del | CA015656 | BRCA2 | c.2564_2565del (p.Thr855LysfsTer25) c.2195_2196del (p.Thr732LysfsTer25) n.2564_2565del | ClinVar dbSNP |
13 | g.32336917del | CA2825002131 | BRCA2 | c.2562del (p.Asn854LysfsTer4) c.2193del (p.Asn731LysfsTer4) n.2562del | ClinVar |
13 | g.32336917C>A | CA387772549 | BRCA2 | c.2562C>A (p.Asn854Lys) c.2193C>A (p.Asn731Lys) n.2562C>A | dbSNP |
13 | g.32336917C= | CA2082809553 | BRCA2 | c.2562C= (p.Asn854=) c.2193C= (p.Asn731=) n.2562C= | |
13 | g.32336917C>G | CA387772550 | BRCA2 | c.2562C>G (p.Asn854Lys) c.2193C>G (p.Asn731Lys) n.2562C>G | dbSNP gnomAD v4 |
13 | g.32336917C>T | CA483437295 | BRCA2 | c.2562C>T (p.Asn854=) c.2193C>T (p.Asn731=) n.2562C>T | ClinVar dbSNP |
13 | g.32336918A= | CA2082809562 | BRCA2 | c.2563A= (p.Thr855=) c.2194A= (p.Thr732=) n.2563A= | |
13 | g.32336918A>C | CA387772551 | BRCA2 | c.2563A>C (p.Thr855Pro) c.2194A>C (p.Thr732Pro) n.2563A>C | dbSNP |
13 | g.32336918A>G | CA387772552 | BRCA2 | c.2563A>G (p.Thr855Ala) c.2194A>G (p.Thr732Ala) n.2563A>G | ClinVar dbSNP |
13 | g.32336918A>T | CA387772553 | BRCA2 | c.2563A>T (p.Thr855Ser) c.2194A>T (p.Thr732Ser) n.2563A>T | dbSNP |
13 | g.32336919del | CA2798719180 | BRCA2 | c.2564del (p.Thr855LysfsTer3) c.2195del (p.Thr732LysfsTer3) n.2564del | |
13 | g.32336919C>A | CA387772556 | BRCA2 | c.2564C>A (p.Thr855Lys) c.2195C>A (p.Thr732Lys) n.2564C>A | |
13 | g.32336919C>G | CA387772554 | BRCA2 | c.2564C>G (p.Thr855Arg) c.2195C>G (p.Thr732Arg) n.2564C>G | ClinVar dbSNP |
13 | g.32336919C>T | CA387772555 | BRCA2 | c.2564C>T (p.Thr855Ile) c.2195C>T (p.Thr732Ile) n.2564C>T | |
13 | g.32336920A>C | CA483437298 | BRCA2 | c.2565A>C (p.Thr855=) c.2196A>C (p.Thr732=) n.2565A>C | |
13 | g.32336920A>G | CA483437296 | BRCA2 | c.2565A>G (p.Thr855=) c.2196A>G (p.Thr732=) n.2565A>G | dbSNP |
13 | g.32336920A>T | CA483437297 | BRCA2 | c.2565A>T (p.Thr855=) c.2196A>T (p.Thr732=) n.2565A>T | dbSNP |
13 | g.32336921A>C | CA387772557 | BRCA2 | c.2566A>C (p.Asn856His) c.2197A>C (p.Asn733His) n.2566A>C | ClinVar dbSNP |
13 | g.32336921A>G | CA387772558 | BRCA2 | c.2566A>G (p.Asn856Asp) c.2197A>G (p.Asn733Asp) n.2566A>G | dbSNP |
13 | g.32336921A>T | CA387772559 | BRCA2 | c.2566A>T (p.Asn856Tyr) c.2197A>T (p.Asn733Tyr) n.2566A>T | dbSNP COSMIC COSMIC |
13 | g.32336922A>C | CA387772560 | BRCA2 | c.2567A>C (p.Asn856Thr) c.2198A>C (p.Asn733Thr) n.2567A>C | |
13 | g.32336922A>G | CA387772561 | BRCA2 | c.2567A>G (p.Asn856Ser) c.2198A>G (p.Asn733Ser) n.2567A>G | ClinVar |
13 | g.32336922A>T | CA387772562 | BRCA2 | c.2567A>T (p.Asn856Ile) c.2198A>T (p.Asn733Ile) n.2567A>T | dbSNP |
13 | g.32336923T>A | CA387772563 | BRCA2 | c.2568T>A (p.Asn856Lys) c.2199T>A (p.Asn733Lys) n.2568T>A | ClinVar dbSNP |
13 | g.32336923T>C | CA483437299 | BRCA2 | c.2568T>C (p.Asn856=) c.2199T>C (p.Asn733=) n.2568T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336923T>G | CA387772564 | BRCA2 | c.2568T>G (p.Asn856Lys) c.2199T>G (p.Asn733Lys) n.2568T>G | |
13 | g.32336923T= | CA2082809569 | BRCA2 | c.2568T= (p.Asn856=) c.2199T= (p.Asn733=) n.2568T= | |
13 | g.32336924C>A | CA387772565 | BRCA2 | c.2569C>A (p.Leu857Ile) c.2200C>A (p.Leu734Ile) n.2569C>A | dbSNP |
13 | g.32336924C= | CA2082809584 | BRCA2 | c.2569C= (p.Leu857=) c.2200C= (p.Leu734=) n.2569C= | |
13 | g.32336924C>G | CA387772566 | BRCA2 | c.2569C>G (p.Leu857Val) c.2200C>G (p.Leu734Val) n.2569C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336924C>T | CA6940613 | BRCA2 | c.2569C>T (p.Leu857=) c.2200C>T (p.Leu734=) n.2569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336925T>A | CA387772568 | BRCA2 | c.2570T>A (p.Leu857Gln) c.2201T>A (p.Leu734Gln) n.2570T>A | |
13 | g.32336925T>C | CA387772569 | BRCA2 | c.2570T>C (p.Leu857Pro) c.2201T>C (p.Leu734Pro) n.2570T>C | |
13 | g.32336925T>G | CA387772567 | BRCA2 | c.2570T>G (p.Leu857Arg) c.2201T>G (p.Leu734Arg) n.2570T>G | |
13 | g.32336925dup | CA167960 | BRCA2 | c.2570dup (p.Arg858LysfsTer23) c.2201dup (p.Arg735LysfsTer23) n.2570dup | ClinVar dbSNP |
13 | g.32336926A= | CA2082809592 | BRCA2 | c.2571A= (p.Leu857=) c.2202A= (p.Leu734=) n.2571A= | |
13 | g.32336926A>C | CA483437300 | BRCA2 | c.2571A>C (p.Leu857=) c.2202A>C (p.Leu734=) n.2571A>C | |
13 | g.32336926A>G | CA483437302 | BRCA2 | c.2571A>G (p.Leu857=) c.2202A>G (p.Leu734=) n.2571A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336926A>T | CA483437301 | BRCA2 | c.2571A>T (p.Leu857=) c.2202A>T (p.Leu734=) n.2571A>T | dbSNP |
13 | g.32336927A= | CA2082809595 | BRCA2 | c.2572A= (p.Arg858=) c.2203A= (p.Arg735=) n.2572A= | |
13 | g.32336927A>C | CA483437303 | BRCA2 | c.2572A>C (p.Arg858=) c.2203A>C (p.Arg735=) n.2572A>C | |
13 | g.32336927A>G | CA015667 | BRCA2 | c.2572A>G (p.Arg858Gly) c.2203A>G (p.Arg735Gly) n.2572A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336927A>T | CA387772570 | BRCA2 | c.2572A>T (p.Arg858Ter) c.2203A>T (p.Arg735Ter) n.2572A>T | dbSNP |
13 | g.32336928G>A | CA387772571 | BRCA2 | c.2573G>A (p.Arg858Lys) c.2204G>A (p.Arg735Lys) n.2573G>A | ClinVar dbSNP |
13 | g.32336928G>C | CA387772572 | BRCA2 | c.2573G>C (p.Arg858Thr) c.2204G>C (p.Arg735Thr) n.2573G>C | ClinVar dbSNP |
13 | g.32336928G>T | CA387772573 | BRCA2 | c.2573G>T (p.Arg858Ile) c.2204G>T (p.Arg735Ile) n.2573G>T | ClinVar dbSNP |
13 | g.32336929A= | CA2082809608 | BRCA2 | c.2574A= (p.Arg858=) c.2205A= (p.Arg735=) n.2574A= | |
13 | g.32336929A>C | CA387772574 | BRCA2 | c.2574A>C (p.Arg858Ser) c.2205A>C (p.Arg735Ser) n.2574A>C | ClinVar dbSNP |
13 | g.32336929A>G | CA483437304 | BRCA2 | c.2574A>G (p.Arg858=) c.2205A>G (p.Arg735=) n.2574A>G | ClinVar dbSNP |
13 | g.32336929A>T | CA387772575 | BRCA2 | c.2574A>T (p.Arg858Ser) c.2205A>T (p.Arg735Ser) n.2574A>T | dbSNP |
13 | g.32336929dup | CA2499222110 | BRCA2 | c.2574dup (p.Val859SerfsTer22) c.2205dup (p.Val736SerfsTer22) n.2574dup | |
13 | g.32336930G>A | CA387772576 | BRCA2 | c.2575G>A (p.Val859Ile) c.2206G>A (p.Val736Ile) n.2575G>A | dbSNP gnomAD v4 |
13 | g.32336930G>C | CA387772577 | BRCA2 | c.2575G>C (p.Val859Leu) c.2206G>C (p.Val736Leu) n.2575G>C | dbSNP gnomAD v4 |
13 | g.32336930G>T | CA387772578 | BRCA2 | c.2575G>T (p.Val859Leu) c.2206G>T (p.Val736Leu) n.2575G>T | |
13 | g.32336931T>A | CA387772579 | BRCA2 | c.2576T>A (p.Val859Glu) c.2207T>A (p.Val736Glu) n.2576T>A | |
13 | g.32336931T>C | CA387772580 | BRCA2 | c.2576T>C (p.Val859Ala) c.2207T>C (p.Val736Ala) n.2576T>C | ClinVar dbSNP |
13 | g.32336931T>G | CA387772581 | BRCA2 | c.2576T>G (p.Val859Gly) c.2207T>G (p.Val736Gly) n.2576T>G | |
13 | g.32336931T= | CA2082809616 | BRCA2 | c.2576T= (p.Val859=) c.2207T= (p.Val736=) n.2576T= | |
13 | g.32336932A= | CA2082809622 | BRCA2 | c.2577A= (p.Val859=) c.2208A= (p.Val736=) n.2577A= | |
13 | g.32336932A>C | CA483437305 | BRCA2 | c.2577A>C (p.Val859=) c.2208A>C (p.Val736=) n.2577A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32336932A>G | CA483437306 | BRCA2 | c.2577A>G (p.Val859=) c.2208A>G (p.Val736=) n.2577A>G | ClinVar dbSNP |
13 | g.32336932A>T | CA483437307 | BRCA2 | c.2577A>T (p.Val859=) c.2208A>T (p.Val736=) n.2577A>T | ClinVar |
13 | g.32336933del | CA2499222111 | BRCA2 | c.2578del (p.Ile860SerfsTer14) c.2209del (p.Ile737SerfsTer14) n.2578del | dbSNP gnomAD v4 |
13 | g.32336933A= | CA2082809630 | BRCA2 | c.2578A= (p.Ile860=) c.2209A= (p.Ile737=) n.2578A= | |
13 | g.32336933A>C | CA387772583 | BRCA2 | c.2578A>C (p.Ile860Leu) c.2209A>C (p.Ile737Leu) n.2578A>C | dbSNP |
13 | g.32336933A>G | CA015675 | BRCA2 | c.2578A>G (p.Ile860Val) c.2209A>G (p.Ile737Val) n.2578A>G | ClinVar dbSNP |
13 | g.32336933A>T | CA387772582 | BRCA2 | c.2578A>T (p.Ile860Phe) c.2209A>T (p.Ile737Phe) n.2578A>T | dbSNP |
13 | g.32336934T>A | CA387772584 | BRCA2 | c.2579T>A (p.Ile860Asn) c.2210T>A (p.Ile737Asn) n.2579T>A | |
13 | g.32336934T>C | CA387772585 | BRCA2 | c.2579T>C (p.Ile860Thr) c.2210T>C (p.Ile737Thr) n.2579T>C | gnomAD v4 |
13 | g.32336934T>G | CA387772586 | BRCA2 | c.2579T>G (p.Ile860Ser) c.2210T>G (p.Ile737Ser) n.2579T>G | |
13 | g.32336935C>A | CA483437309 | BRCA2 | c.2580C>A (p.Ile860=) c.2211C>A (p.Ile737=) n.2580C>A | dbSNP |
13 | g.32336935C= | CA2082809641 | BRCA2 | c.2580C= (p.Ile860=) c.2211C= (p.Ile737=) n.2580C= | |
13 | g.32336935C>G | CA387772587 | BRCA2 | c.2580C>G (p.Ile860Met) c.2211C>G (p.Ile737Met) n.2580C>G | ClinVar dbSNP |
13 | g.32336935C>T | CA483437308 | BRCA2 | c.2580C>T (p.Ile860=) c.2211C>T (p.Ile737=) n.2580C>T | dbSNP COSMIC COSMIC |
13 | g.32336936del | CA2727922046 | BRCA2 | c.2581del (p.Gln861LysfsTer13) c.2212del (p.Gln738LysfsTer13) n.2581del | dbSNP |
13 | g.32336936C>A | CA6940614 | BRCA2 | c.2581C>A (p.Gln861Lys) c.2212C>A (p.Gln738Lys) n.2581C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336936C= | CA2082809651 | BRCA2 | c.2581C= (p.Gln861=) c.2212C= (p.Gln738=) n.2581C= | |
13 | g.32336936C>G | CA387772588 | BRCA2 | c.2581C>G (p.Gln861Glu) c.2212C>G (p.Gln738Glu) n.2581C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336936C>T | CA387772589 | BRCA2 | c.2581C>T (p.Gln861Ter) c.2212C>T (p.Gln738Ter) n.2581C>T | ClinVar dbSNP |
13 | g.32336936_32336937delinsCA | CA2082809650 | BRCA2 | c.2581_2582delinsCA (p.Gln861=) c.2212_2213delinsCA (p.Gln738=) n.2581_2582delinsCA | |
13 | g.32336937A>C | CA387772592 | BRCA2 | c.2582A>C (p.Gln861Pro) c.2213A>C (p.Gln738Pro) n.2582A>C | dbSNP |
13 | g.32336937A>G | CA387772591 | BRCA2 | c.2582A>G (p.Gln861Arg) c.2213A>G (p.Gln738Arg) n.2582A>G | dbSNP |
13 | g.32336937A>T | CA387772590 | BRCA2 | c.2582A>T (p.Gln861Leu) c.2213A>T (p.Gln738Leu) n.2582A>T | dbSNP |
13 | g.32336943dup | CA015689 | BRCA2 | c.2588dup (p.Asn863LysfsTer18) c.2219dup (p.Asn740LysfsTer18) n.2588dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336943del | CA2082809665 | BRCA2 | c.2588del (p.Asn863IlefsTer11) c.2219del (p.Asn740IlefsTer11) n.2588del | ClinVar dbSNP gnomAD v4 |
13 | g.32336938A>C | CA387772593 | BRCA2 | c.2583A>C (p.Gln861His) c.2214A>C (p.Gln738His) n.2583A>C | |
13 | g.32336938A>G | CA483437310 | BRCA2 | c.2583A>G (p.Gln861=) c.2214A>G (p.Gln738=) n.2583A>G | ClinVar |
13 | g.32336938A>T | CA387772594 | BRCA2 | c.2583A>T (p.Gln861His) c.2214A>T (p.Gln738His) n.2583A>T | dbSNP |
13 | g.32336938_32336945delinsAAAAAATC | CA2082809673 | BRCA2 | c.2583_2590delinsAAAAAATC (p.Gln861=) c.2214_2221delinsAAAAAATC (p.Gln738=) n.2583_2590delinsAAAAAATC | |
13 | g.32336939A>C | CA387772596 | BRCA2 | c.2584A>C (p.Lys862Gln) c.2215A>C (p.Lys739Gln) n.2584A>C | |
13 | g.32336939A>G | CA387772597 | BRCA2 | c.2584A>G (p.Lys862Glu) c.2215A>G (p.Lys739Glu) n.2584A>G | |
13 | g.32336939A>T | CA387772595 | BRCA2 | c.2584A>T (p.Lys862Ter) c.2215A>T (p.Lys739Ter) n.2584A>T | |
13 | g.32336941_32336947del | CA015698 | BRCA2 | c.2586_2592del (p.Asn863LysfsTer9) c.2217_2223del (p.Asn740LysfsTer9) n.2586_2592del | ClinVar dbSNP |
13 | g.32336940A= | CA2082809687 | BRCA2 | c.2585A= (p.Lys862=) c.2216A= (p.Lys739=) n.2585A= | |
13 | g.32336940A>C | CA387772598 | BRCA2 | c.2585A>C (p.Lys862Thr) c.2216A>C (p.Lys739Thr) n.2585A>C | dbSNP |
13 | g.32336940A>G | CA10579538 | BRCA2 | c.2585A>G (p.Lys862Arg) c.2216A>G (p.Lys739Arg) n.2585A>G | ClinVar dbSNP |
13 | g.32336940A>T | CA387772599 | BRCA2 | c.2585A>T (p.Lys862Ile) c.2216A>T (p.Lys739Ile) n.2585A>T | |
13 | g.32336941A>C | CA387772600 | BRCA2 | c.2586A>C (p.Lys862Asn) c.2217A>C (p.Lys739Asn) n.2586A>C | |
13 | g.32336941A>G | CA483437311 | BRCA2 | c.2586A>G (p.Lys862=) c.2217A>G (p.Lys739=) n.2586A>G | dbSNP |
13 | g.32336941A>T | CA387772601 | BRCA2 | c.2586A>T (p.Lys862Asn) c.2217A>T (p.Lys739Asn) n.2586A>T | dbSNP |
13 | g.32336942A>C | CA387772602 | BRCA2 | c.2587A>C (p.Asn863His) c.2218A>C (p.Asn740His) n.2587A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32336942A>G | CA387772603 | BRCA2 | c.2587A>G (p.Asn863Asp) c.2218A>G (p.Asn740Asp) n.2587A>G | |
13 | g.32336942A>T | CA387772604 | BRCA2 | c.2587A>T (p.Asn863Tyr) c.2218A>T (p.Asn740Tyr) n.2587A>T | ClinVar |
13 | g.32336943A= | CA2082809701 | BRCA2 | c.2588A= (p.Asn863=) c.2219A= (p.Asn740=) n.2588A= | |
13 | g.32336943A>C | CA387772605 | BRCA2 | c.2588A>C (p.Asn863Thr) c.2219A>C (p.Asn740Thr) n.2588A>C | ClinVar dbSNP |
13 | g.32336943A>G | CA6940615 | BRCA2 | c.2588A>G (p.Asn863Ser) c.2219A>G (p.Asn740Ser) n.2588A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336943A>T | CA387772606 | BRCA2 | c.2588A>T (p.Asn863Ile) c.2219A>T (p.Asn740Ile) n.2588A>T | dbSNP |
13 | g.32336943_32336944delinsAT | CA2082809699 | BRCA2 | c.2588_2589delinsAT (p.Asn863=) c.2219_2220delinsAT (p.Asn740=) n.2588_2589delinsAT | |
13 | g.32336943_32336944insACCAAACACACCCAAC | CA2798719186 | BRCA2 | c.2588_2589insACCAAACACACCCAAC (p.Asn863LysfsTer23) c.2219_2220insACCAAACACACCCAAC (p.Asn740LysfsTer23) n.2588_2589insACCAAACACACCCAAC | |
13 | g.32336944del | CA015722 | BRCA2 | c.2589del (p.Gln864LysfsTer10) c.2220del (p.Gln741LysfsTer10) n.2589del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336944T>A | CA015734 | BRCA2 | c.2589T>A (p.Asn863Lys) c.2220T>A (p.Asn740Lys) n.2589T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336944T>C | CA483437312 | BRCA2 | c.2589T>C (p.Asn863=) c.2220T>C (p.Asn740=) n.2589T>C | |
13 | g.32336944T>G | CA387772607 | BRCA2 | c.2589T>G (p.Asn863Lys) c.2220T>G (p.Asn740Lys) n.2589T>G | |
13 | g.32336944T= | CA2082809719 | BRCA2 | c.2589T= (p.Asn863=) c.2220T= (p.Asn740=) n.2589T= | |
13 | g.32336945C>A | CA387772608 | BRCA2 | c.2590C>A (p.Gln864Lys) c.2221C>A (p.Gln741Lys) n.2590C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336945C= | CA2082809729 | BRCA2 | c.2590C= (p.Gln864=) c.2221C= (p.Gln741=) n.2590C= | |
13 | g.32336945C>G | CA387772609 | BRCA2 | c.2590C>G (p.Gln864Glu) c.2221C>G (p.Gln741Glu) n.2590C>G | dbSNP |
13 | g.32336945C>T | CA16614253 | BRCA2 | c.2590C>T (p.Gln864Ter) c.2221C>T (p.Gln741Ter) n.2590C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336946A= | CA2082809737 | BRCA2 | c.2591A= (p.Gln864=) c.2222A= (p.Gln741=) n.2591A= | |
13 | g.32336946A>C | CA387772610 | BRCA2 | c.2591A>C (p.Gln864Pro) c.2222A>C (p.Gln741Pro) n.2591A>C | ClinVar dbSNP |
13 | g.32336946A>G | CA387772611 | BRCA2 | c.2591A>G (p.Gln864Arg) c.2222A>G (p.Gln741Arg) n.2591A>G | dbSNP |
13 | g.32336946A>T | CA10579539 | BRCA2 | c.2591A>T (p.Gln864Leu) c.2222A>T (p.Gln741Leu) n.2591A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336947del | CA2573053803 | BRCA2 | c.2592del (p.Glu865LysfsTer9) c.2223del (p.Glu742LysfsTer9) n.2592del | ClinVar dbSNP |
13 | g.32336947A>C | CA387772612 | BRCA2 | c.2592A>C (p.Gln864His) c.2223A>C (p.Gln741His) n.2592A>C | |
13 | g.32336947A>G | CA483437313 | BRCA2 | c.2592A>G (p.Gln864=) c.2223A>G (p.Gln741=) n.2592A>G | ClinVar dbSNP |
13 | g.32336947A>T | CA387772613 | BRCA2 | c.2592A>T (p.Gln864His) c.2223A>T (p.Gln741His) n.2592A>T | dbSNP |
13 | g.32336947_32336948insCCAAACACACCCAACACA | CA2798719187 | BRCA2 | c.2592_2593insCCAAACACACCCAACACA (p.Gln864_Glu865insProAsnThrProAsnThr) c.2223_2224insCCAAACACACCCAACACA (p.Gln741_Glu742insProAsnThrProAsnThr) n.2592_2593insCCAAACACACCCAACACA | |
13 | g.32336948G>A | CA387772614 | BRCA2 | c.2593G>A (p.Glu865Lys) c.2224G>A (p.Glu742Lys) n.2593G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336948G>C | CA015745 | BRCA2 | c.2593G>C (p.Glu865Gln) c.2224G>C (p.Glu742Gln) n.2593G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336948G= | CA2082809756 | BRCA2 | c.2593G= (p.Glu865=) c.2224G= (p.Glu742=) n.2593G= | |
13 | g.32336948G>T | CA10589164 | BRCA2 | c.2593G>T (p.Glu865Ter) c.2224G>T (p.Glu742Ter) n.2593G>T | ClinVar dbSNP |
13 | g.32336948_32336949delinsGA | CA2082809759 | BRCA2 | c.2593_2594delinsGA (p.Glu865=) c.2224_2225delinsGA (p.Glu742=) n.2593_2594delinsGA | |
13 | g.32336948_32336952delinsGAAGA | CA2082809763 | BRCA2 | c.2593_2597delinsGAAGA (p.Glu865=) c.2224_2228delinsGAAGA (p.Glu742=) n.2593_2597delinsGAAGA | |
13 | g.32336949A= | CA2082809775 | BRCA2 | c.2594A= (p.Glu865=) c.2225A= (p.Glu742=) n.2594A= | |
13 | g.32336949A>C | CA387772617 | BRCA2 | c.2594A>C (p.Glu865Ala) c.2225A>C (p.Glu742Ala) n.2594A>C | |
13 | g.32336949A>G | CA387772616 | BRCA2 | c.2594A>G (p.Glu865Gly) c.2225A>G (p.Glu742Gly) n.2594A>G | ClinVar dbSNP |
13 | g.32336949A>T | CA387772615 | BRCA2 | c.2594A>T (p.Glu865Val) c.2225A>T (p.Glu742Val) n.2594A>T | |
13 | g.32336950del | CA015752 | BRCA2 | c.2595del (p.Glu866LysfsTer8) c.2226del (p.Glu743LysfsTer8) n.2595del | ClinVar dbSNP |
13 | g.32336951_32336954del | CA015758 | BRCA2 | c.2596_2599del (p.Glu866LeufsTer7) c.2227_2230del (p.Glu743LeufsTer7) n.2596_2599del | ClinVar dbSNP |
13 | g.32336950A>C | CA387772618 | BRCA2 | c.2595A>C (p.Glu865Asp) c.2226A>C (p.Glu742Asp) n.2595A>C | |
13 | g.32336950A>G | CA483437314 | BRCA2 | c.2595A>G (p.Glu865=) c.2226A>G (p.Glu742=) n.2595A>G | |
13 | g.32336950A>T | CA387772619 | BRCA2 | c.2595A>T (p.Glu865Asp) c.2226A>T (p.Glu742Asp) n.2595A>T | |
13 | g.32336951G>A | CA387772620 | BRCA2 | c.2596G>A (p.Glu866Lys) c.2227G>A (p.Glu743Lys) n.2596G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336951G>C | CA348942 | BRCA2 | c.2596G>C (p.Glu866Gln) c.2227G>C (p.Glu743Gln) n.2596G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32336951G= | CA2082809784 | BRCA2 | c.2596G= (p.Glu866=) c.2227G= (p.Glu743=) n.2596G= | |
13 | g.32336951G>T | CA387772621 | BRCA2 | c.2596G>T (p.Glu866Ter) c.2227G>T (p.Glu743Ter) n.2596G>T | ClinVar dbSNP |
13 | g.32336952A= | CA2082809804 | BRCA2 | c.2597A= (p.Glu866=) c.2228A= (p.Glu743=) n.2597A= | |
13 | g.32336952A>C | CA387772622 | BRCA2 | c.2597A>C (p.Glu866Ala) c.2228A>C (p.Glu743Ala) n.2597A>C | |
13 | g.32336952A>G | CA387772623 | BRCA2 | c.2597A>G (p.Glu866Gly) c.2228A>G (p.Glu743Gly) n.2597A>G | ClinVar |
13 | g.32336952A>T | CA387772624 | BRCA2 | c.2597A>T (p.Glu866Val) c.2228A>T (p.Glu743Val) n.2597A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336953A= | CA2082809816 | BRCA2 | c.2598A= (p.Glu866=) c.2229A= (p.Glu743=) n.2598A= | |
13 | g.32336953A>C | CA387772625 | BRCA2 | c.2598A>C (p.Glu866Asp) c.2229A>C (p.Glu743Asp) n.2598A>C | dbSNP |
13 | g.32336953A>G | CA10579540 | BRCA2 | c.2598A>G (p.Glu866=) c.2229A>G (p.Glu743=) n.2598A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336953A>T | CA015772 | BRCA2 | c.2598A>T (p.Glu866Asp) c.2229A>T (p.Glu743Asp) n.2598A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336954A= | CA2082809827 | BRCA2 | c.2599A= (p.Thr867=) c.2230A= (p.Thr744=) n.2599A= | |
13 | g.32336954A>C | CA387772626 | BRCA2 | c.2599A>C (p.Thr867Pro) c.2230A>C (p.Thr744Pro) n.2599A>C | |
13 | g.32336954A>G | CA015783 | BRCA2 | c.2599A>G (p.Thr867Ala) c.2230A>G (p.Thr744Ala) n.2599A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32336954A>T | CA387772627 | BRCA2 | c.2599A>T (p.Thr867Ser) c.2230A>T (p.Thr744Ser) n.2599A>T | dbSNP |
13 | g.32336955C>A | CA387772630 | BRCA2 | c.2600C>A (p.Thr867Asn) c.2231C>A (p.Thr744Asn) n.2600C>A | dbSNP gnomAD v4 |
13 | g.32336955C= | CA2082809835 | BRCA2 | c.2600C= (p.Thr867=) c.2231C= (p.Thr744=) n.2600C= | |
13 | g.32336955C>G | CA387772629 | BRCA2 | c.2600C>G (p.Thr867Ser) c.2231C>G (p.Thr744Ser) n.2600C>G | ClinVar dbSNP |
13 | g.32336955C>T | CA387772628 | BRCA2 | c.2600C>T (p.Thr867Ile) c.2231C>T (p.Thr744Ile) n.2600C>T | dbSNP |
13 | g.32336956T>A | CA483437315 | BRCA2 | c.2601T>A (p.Thr867=) c.2232T>A (p.Thr744=) n.2601T>A | dbSNP |
13 | g.32336956T>C | CA483437316 | BRCA2 | c.2601T>C (p.Thr867=) c.2232T>C (p.Thr744=) n.2601T>C | |
13 | g.32336956T>G | CA015792 | BRCA2 | c.2601T>G (p.Thr867=) c.2232T>G (p.Thr744=) n.2601T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336956T= | CA2082809842 | BRCA2 | c.2601T= (p.Thr867=) c.2232T= (p.Thr744=) n.2601T= | |
13 | g.32336957A= | CA2082809849 | BRCA2 | c.2602A= (p.Thr868=) c.2233A= (p.Thr745=) n.2602A= | |
13 | g.32336957A>C | CA387772631 | BRCA2 | c.2602A>C (p.Thr868Pro) c.2233A>C (p.Thr745Pro) n.2602A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336957A>G | CA387772632 | BRCA2 | c.2602A>G (p.Thr868Ala) c.2233A>G (p.Thr745Ala) n.2602A>G | |
13 | g.32336957A>T | CA387772633 | BRCA2 | c.2602A>T (p.Thr868Ser) c.2233A>T (p.Thr745Ser) n.2602A>T | dbSNP |
13 | g.32336957_32336958delinsAC | CA2082809847 | BRCA2 | c.2602_2603delinsAC (p.Thr868=) c.2233_2234delinsAC (p.Thr745=) n.2602_2603delinsAC | |
13 | g.32336958del | CA015801 | BRCA2 | c.2603del (p.Thr868IlefsTer6) c.2234del (p.Thr745IlefsTer6) n.2603del | ClinVar dbSNP |
13 | g.32336958C>A | CA387772636 | BRCA2 | c.2603C>A (p.Thr868Asn) c.2234C>A (p.Thr745Asn) n.2603C>A | dbSNP |
13 | g.32336958C= | CA2082809868 | BRCA2 | c.2603C= (p.Thr868=) c.2234C= (p.Thr745=) n.2603C= | |
13 | g.32336958C>G | CA387772635 | BRCA2 | c.2603C>G (p.Thr868Ser) c.2234C>G (p.Thr745Ser) n.2603C>G | dbSNP |
13 | g.32336958C>T | CA387772634 | BRCA2 | c.2603C>T (p.Thr868Ile) c.2234C>T (p.Thr745Ile) n.2603C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32336959T>A | CA483437317 | BRCA2 | c.2604T>A (p.Thr868=) c.2235T>A (p.Thr745=) n.2604T>A | dbSNP |
13 | g.32336959T>C | CA483437318 | BRCA2 | c.2604T>C (p.Thr868=) c.2235T>C (p.Thr745=) n.2604T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336959T>G | CA483437319 | BRCA2 | c.2604T>G (p.Thr868=) c.2235T>G (p.Thr745=) n.2604T>G | |
13 | g.32336959T= | CA2082809910 | BRCA2 | c.2604T= (p.Thr868=) c.2235T= (p.Thr745=) n.2604T= | |
13 | g.32336960T>A | CA387772637 | BRCA2 | c.2605T>A (p.Ser869Thr) c.2236T>A (p.Ser746Thr) n.2605T>A | dbSNP |
13 | g.32336960T>C | CA387772638 | BRCA2 | c.2605T>C (p.Ser869Pro) c.2236T>C (p.Ser746Pro) n.2605T>C | |
13 | g.32336960T>G | CA387772639 | BRCA2 | c.2605T>G (p.Ser869Ala) c.2236T>G (p.Ser746Ala) n.2605T>G | dbSNP |
13 | g.32336961C>A | CA387772640 | BRCA2 | c.2606C>A (p.Ser869Ter) c.2237C>A (p.Ser746Ter) n.2606C>A | dbSNP |
13 | g.32336961C= | CA2082809929 | BRCA2 | c.2606C= (p.Ser869=) c.2237C= (p.Ser746=) n.2606C= | |
13 | g.32336961C>G | CA10586061 | BRCA2 | c.2606C>G (p.Ser869Ter) c.2237C>G (p.Ser746Ter) n.2606C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336961C>T | CA015810 | BRCA2 | c.2606C>T (p.Ser869Leu) c.2237C>T (p.Ser746Leu) n.2606C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336962A>C | CA483437320 | BRCA2 | c.2607A>C (p.Ser869=) c.2238A>C (p.Ser746=) n.2607A>C | |
13 | g.32336962A>G | CA483437321 | BRCA2 | c.2607A>G (p.Ser869=) c.2238A>G (p.Ser746=) n.2607A>G | |
13 | g.32336962A>T | CA483437322 | BRCA2 | c.2607A>T (p.Ser869=) c.2238A>T (p.Ser746=) n.2607A>T | dbSNP |
13 | g.32336963A= | CA2082809947 | BRCA2 | c.2608A= (p.Ile870=) c.2239A= (p.Ile747=) n.2608A= | |
13 | g.32336963A>C | CA387773151 | BRCA2 | c.2608A>C (p.Ile870Leu) c.2239A>C (p.Ile747Leu) n.2608A>C | |
13 | g.32336963A>G | CA6940616 | BRCA2 | c.2608A>G (p.Ile870Val) c.2239A>G (p.Ile747Val) n.2608A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336963A>T | CA387773149 | BRCA2 | c.2608A>T (p.Ile870Phe) c.2239A>T (p.Ile747Phe) n.2608A>T | |
13 | g.32336964T>A | CA387773152 | BRCA2 | c.2609T>A (p.Ile870Asn) c.2240T>A (p.Ile747Asn) n.2609T>A | dbSNP |
13 | g.32336964T>C | CA387773154 | BRCA2 | c.2609T>C (p.Ile870Thr) c.2240T>C (p.Ile747Thr) n.2609T>C | |
13 | g.32336964T>G | CA387773155 | BRCA2 | c.2609T>G (p.Ile870Ser) c.2240T>G (p.Ile747Ser) n.2609T>G | |
13 | g.32336966dup | CA10579541 | BRCA2 | c.2611dup (p.Ser871PhefsTer10) c.2242dup (p.Ser748PhefsTer10) n.2611dup | ClinVar dbSNP |
13 | g.32336966del | CA645573209 | BRCA2 | c.2611del (p.Ser871GlnfsTer3) c.2242del (p.Ser748GlnfsTer3) n.2611del | COSMIC COSMIC |
13 | g.32336965T>A | CA483436918 | BRCA2 | c.2610T>A (p.Ile870=) c.2241T>A (p.Ile747=) n.2610T>A | dbSNP |
13 | g.32336965T>C | CA483436920 | BRCA2 | c.2610T>C (p.Ile870=) c.2241T>C (p.Ile747=) n.2610T>C | |
13 | g.32336965T>G | CA387773157 | BRCA2 | c.2610T>G (p.Ile870Met) c.2241T>G (p.Ile747Met) n.2610T>G | |
13 | g.32336966T>A | CA387773159 | BRCA2 | c.2611T>A (p.Ser871Thr) c.2242T>A (p.Ser748Thr) n.2611T>A | dbSNP |
13 | g.32336966T>C | CA387773160 | BRCA2 | c.2611T>C (p.Ser871Pro) c.2242T>C (p.Ser748Pro) n.2611T>C | dbSNP |
13 | g.32336966T>G | CA387773161 | BRCA2 | c.2611T>G (p.Ser871Ala) c.2242T>G (p.Ser748Ala) n.2611T>G | |
13 | g.32336966_32336967delinsTC | CA2082809958 | BRCA2 | c.2611_2612delinsTC (p.Ser871=) c.2242_2243delinsTC (p.Ser748=) n.2611_2612delinsTC | |
13 | g.32336967del | CA2580087289 | BRCA2 | c.2612del (p.Ser871Ter) c.2243del (p.Ser748Ter) n.2612del | ClinVar |
13 | g.32336967C>A | CA015821 | BRCA2 | c.2612C>A (p.Ser871Ter) c.2243C>A (p.Ser748Ter) n.2612C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336967C= | CA2082809968 | BRCA2 | c.2612C= (p.Ser871=) c.2243C= (p.Ser748=) n.2612C= | |
13 | g.32336967C>G | CA015833 | BRCA2 | c.2612C>G (p.Ser871Ter) c.2243C>G (p.Ser748Ter) n.2612C>G | ClinVar dbSNP |
13 | g.32336967C>T | CA387773164 | BRCA2 | c.2612C>T (p.Ser871Leu) c.2243C>T (p.Ser748Leu) n.2612C>T | dbSNP |
13 | g.32336967delinsTTT | CA325847 | BRCA2 | c.2612delinsTTT (p.Ser871PhefsTer2) c.2243delinsTTT (p.Ser748PhefsTer2) n.2612delinsTTT | ClinVar dbSNP |
13 | g.32336968A>C | CA483436927 | BRCA2 | c.2613A>C (p.Ser871=) c.2244A>C (p.Ser748=) n.2613A>C | dbSNP |
13 | g.32336968A>G | CA483436928 | BRCA2 | c.2613A>G (p.Ser871=) c.2244A>G (p.Ser748=) n.2613A>G | dbSNP |
13 | g.32336968A>T | CA483436929 | BRCA2 | c.2613A>T (p.Ser871=) c.2244A>T (p.Ser748=) n.2613A>T | dbSNP |
13 | g.32336972dup | CA015849 | BRCA2 | c.2617dup (p.Ile873AsnfsTer8) c.2248dup (p.Ile750AsnfsTer8) n.2617dup | ClinVar dbSNP |
13 | g.32336968_32336972dup | CA2622601021 | BRCA2 | c.2613_2617dup (p.Ile873LysfsTer3) c.2244_2248dup (p.Ile750LysfsTer3) n.2613_2617dup | gnomAD v4 |
13 | g.32336972del | CA2580087290 | BRCA2 | c.2617del (p.Ile873Ter) c.2248del (p.Ile750Ter) n.2617del | ClinVar dbSNP |
13 | g.32336969A= | CA2082809988 | BRCA2 | c.2614A= (p.Lys872=) c.2245A= (p.Lys749=) n.2614A= | |
13 | g.32336969A>C | CA387773167 | BRCA2 | c.2614A>C (p.Lys872Gln) c.2245A>C (p.Lys749Gln) n.2614A>C | |
13 | g.32336969A>G | CA387773169 | BRCA2 | c.2614A>G (p.Lys872Glu) c.2245A>G (p.Lys749Glu) n.2614A>G | ClinVar dbSNP |
13 | g.32336969A>T | CA387773170 | BRCA2 | c.2614A>T (p.Lys872Ter) c.2245A>T (p.Lys749Ter) n.2614A>T | dbSNP |
13 | g.32336970A>C | CA387773174 | BRCA2 | c.2615A>C (p.Lys872Thr) c.2246A>C (p.Lys749Thr) n.2615A>C | |
13 | g.32336970A>G | CA387773173 | BRCA2 | c.2615A>G (p.Lys872Arg) c.2246A>G (p.Lys749Arg) n.2615A>G | |
13 | g.32336970A>T | CA387773171 | BRCA2 | c.2615A>T (p.Lys872Ile) c.2246A>T (p.Lys749Ile) n.2615A>T | dbSNP |
13 | g.32336971A= | CA2082809994 | BRCA2 | c.2616A= (p.Lys872=) c.2247A= (p.Lys749=) n.2616A= | |
13 | g.32336971A>C | CA387773176 | BRCA2 | c.2616A>C (p.Lys872Asn) c.2247A>C (p.Lys749Asn) n.2616A>C | |
13 | g.32336971A>G | CA348216 | BRCA2 | c.2616A>G (p.Lys872=) c.2247A>G (p.Lys749=) n.2616A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336971A>T | CA387773177 | BRCA2 | c.2616A>T (p.Lys872Asn) c.2247A>T (p.Lys749Asn) n.2616A>T | dbSNP |
13 | g.32336971_32336973delinsAAT | CA2082809998 | BRCA2 | c.2616_2618delinsAAT (p.Lys872=) c.2247_2249delinsAAT (p.Lys749=) n.2616_2618delinsAAT | |
13 | g.32336972A= | CA2082810008 | BRCA2 | c.2617A= (p.Ile873=) c.2248A= (p.Ile750=) n.2617A= | |
13 | g.32336972A>C | CA387773180 | BRCA2 | c.2617A>C (p.Ile873Leu) c.2248A>C (p.Ile750Leu) n.2617A>C | ClinVar dbSNP |
13 | g.32336972A>G | CA387773182 | BRCA2 | c.2617A>G (p.Ile873Val) c.2248A>G (p.Ile750Val) n.2617A>G | ClinVar |
13 | g.32336972A>T | CA387773184 | BRCA2 | c.2617A>T (p.Ile873Leu) c.2248A>T (p.Ile750Leu) n.2617A>T | dbSNP |
13 | g.32336973_32336974del | CA015858 | BRCA2 | c.2618_2619del (p.Ile873AsnfsTer7) c.2249_2250del (p.Ile750AsnfsTer7) n.2618_2619del | ClinVar dbSNP |
13 | g.32336973T>A | CA387773186 | BRCA2 | c.2618T>A (p.Ile873Lys) c.2249T>A (p.Ile750Lys) n.2618T>A | |
13 | g.32336973T>C | CA387773188 | BRCA2 | c.2618T>C (p.Ile873Thr) c.2249T>C (p.Ile750Thr) n.2618T>C | |
13 | g.32336973T>G | CA387773189 | BRCA2 | c.2618T>G (p.Ile873Arg) c.2249T>G (p.Ile750Arg) n.2618T>G | |
13 | g.32336973dup | CA015865 | BRCA2 | c.2618dup (p.Thr874AsnfsTer7) c.2249dup (p.Thr751AsnfsTer7) n.2618dup | ClinVar dbSNP gnomAD v4 |
13 | g.32336974A= | CA2082810021 | BRCA2 | c.2619A= (p.Ile873=) c.2250A= (p.Ile750=) n.2619A= | |
13 | g.32336974A>C | CA483436943 | BRCA2 | c.2619A>C (p.Ile873=) c.2250A>C (p.Ile750=) n.2619A>C | ClinVar dbSNP |
13 | g.32336974A>G | CA387773191 | BRCA2 | c.2619A>G (p.Ile873Met) c.2250A>G (p.Ile750Met) n.2619A>G | |
13 | g.32336974A>T | CA483436946 | BRCA2 | c.2619A>T (p.Ile873=) c.2250A>T (p.Ile750=) n.2619A>T | dbSNP |
13 | g.32336975A= | CA2082810027 | BRCA2 | c.2620A= (p.Thr874=) c.2251A= (p.Thr751=) n.2620A= | |
13 | g.32336975A>C | CA387773192 | BRCA2 | c.2620A>C (p.Thr874Pro) c.2251A>C (p.Thr751Pro) n.2620A>C | dbSNP |
13 | g.32336975A>G | CA387773193 | BRCA2 | c.2620A>G (p.Thr874Ala) c.2251A>G (p.Thr751Ala) n.2620A>G | ClinVar dbSNP |
13 | g.32336975A>T | CA387773195 | BRCA2 | c.2620A>T (p.Thr874Ser) c.2251A>T (p.Thr751Ser) n.2620A>T | dbSNP |
13 | g.32336976C>A | CA387773198 | BRCA2 | c.2621C>A (p.Thr874Asn) c.2252C>A (p.Thr751Asn) n.2621C>A | dbSNP |
13 | g.32336976C= | CA2082810035 | BRCA2 | c.2621C= (p.Thr874=) c.2252C= (p.Thr751=) n.2621C= | |
13 | g.32336976C>G | CA387773199 | BRCA2 | c.2621C>G (p.Thr874Ser) c.2252C>G (p.Thr751Ser) n.2621C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336976C>T | CA387773197 | BRCA2 | c.2621C>T (p.Thr874Ile) c.2252C>T (p.Thr751Ile) n.2621C>T | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32336976_32336978delinsCTG | CA2082810033 | BRCA2 | c.2621_2623delinsCTG (p.Thr874=) c.2252_2254delinsCTG (p.Thr751=) n.2621_2623delinsCTG | |
13 | g.32336976_32336977insG | CA658823631 | BRCA2 | c.2621_2622insG (p.Val875CysfsTer6) c.2252_2253insG (p.Val752CysfsTer6) n.2621_2622insG | ClinVar dbSNP |
13 | g.32336977del | CA2580087291 | BRCA2 | c.2622del (p.Val875SerfsTer20) c.2253del (p.Val752SerfsTer20) n.2622del | ClinVar |
13 | g.32336977T>A | CA483436949 | BRCA2 | c.2622T>A (p.Thr874=) c.2253T>A (p.Thr751=) n.2622T>A | dbSNP |
13 | g.32336977T>C | CA483436950 | BRCA2 | c.2622T>C (p.Thr874=) c.2253T>C (p.Thr751=) n.2622T>C | ClinVar dbSNP |
13 | g.32336977T>G | CA483436951 | BRCA2 | c.2622T>G (p.Thr874=) c.2253T>G (p.Thr751=) n.2622T>G | |
13 | g.32336977T= | CA2082810055 | BRCA2 | c.2622T= (p.Thr874=) c.2253T= (p.Thr751=) n.2622T= | |
13 | g.32336977dup | CA10586503 | BRCA2 | c.2622dup (p.Val875CysfsTer6) c.2253dup (p.Val752CysfsTer6) n.2622dup | ClinVar dbSNP |
13 | g.32336978_32336979del | CA10579542 | BRCA2 | c.2623_2624del (p.Val875GlnfsTer5) c.2254_2255del (p.Val752GlnfsTer5) n.2623_2624del | ClinVar dbSNP |
13 | g.32336978G>A | CA015888 | BRCA2 | c.2623G>A (p.Val875Ile) c.2254G>A (p.Val752Ile) n.2623G>A | ClinVar dbSNP |
13 | g.32336978G>C | CA387773203 | BRCA2 | c.2623G>C (p.Val875Leu) c.2254G>C (p.Val752Leu) n.2623G>C | ClinVar dbSNP |
13 | g.32336978G= | CA2082810067 | BRCA2 | c.2623G= (p.Val875=) c.2254G= (p.Val752=) n.2623G= | |
13 | g.32336978G>T | CA387773204 | BRCA2 | c.2623G>T (p.Val875Phe) c.2254G>T (p.Val752Phe) n.2623G>T | |
13 | g.32336979T>A | CA387773206 | BRCA2 | c.2624T>A (p.Val875Asp) c.2255T>A (p.Val752Asp) n.2624T>A | dbSNP |
13 | g.32336979T>C | CA387773207 | BRCA2 | c.2624T>C (p.Val875Ala) c.2255T>C (p.Val752Ala) n.2624T>C | ClinVar dbSNP |
13 | g.32336979T>G | CA387773210 | BRCA2 | c.2624T>G (p.Val875Gly) c.2255T>G (p.Val752Gly) n.2624T>G | |
13 | g.32336980C>A | CA483436961 | BRCA2 | c.2625C>A (p.Val875=) c.2256C>A (p.Val752=) n.2625C>A | dbSNP |
13 | g.32336980C>G | CA483436959 | BRCA2 | c.2625C>G (p.Val875=) c.2256C>G (p.Val752=) n.2625C>G | dbSNP |
13 | g.32336980C>T | CA483436960 | BRCA2 | c.2625C>T (p.Val875=) c.2256C>T (p.Val752=) n.2625C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336981A>C | CA387773211 | BRCA2 | c.2626A>C (p.Asn876His) c.2257A>C (p.Asn753His) n.2626A>C | |
13 | g.32336981A>G | CA387773213 | BRCA2 | c.2626A>G (p.Asn876Asp) c.2257A>G (p.Asn753Asp) n.2626A>G | dbSNP |
13 | g.32336981A>T | CA387773214 | BRCA2 | c.2626A>T (p.Asn876Tyr) c.2257A>T (p.Asn753Tyr) n.2626A>T | |
13 | g.32336982del | CA658761171 | BRCA2 | c.2627del (p.Asn876IlefsTer19) c.2258del (p.Asn753IlefsTer19) n.2627del | |
13 | g.32336982A= | CA2082810075 | BRCA2 | c.2627A= (p.Asn876=) c.2258A= (p.Asn753=) n.2627A= | |
13 | g.32336982A>C | CA387773216 | BRCA2 | c.2627A>C (p.Asn876Thr) c.2258A>C (p.Asn753Thr) n.2627A>C | dbSNP gnomAD v4 |
13 | g.32336982A>G | CA247502734 | BRCA2 | c.2627A>G (p.Asn876Ser) c.2258A>G (p.Asn753Ser) n.2627A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32336982A>T | CA387773218 | BRCA2 | c.2627A>T (p.Asn876Ile) c.2258A>T (p.Asn753Ile) n.2627A>T | ClinVar dbSNP |
13 | g.32336983T>A | CA387773221 | BRCA2 | c.2628T>A (p.Asn876Lys) c.2259T>A (p.Asn753Lys) n.2628T>A | |
13 | g.32336983T>C | CA483436968 | BRCA2 | c.2628T>C (p.Asn876=) c.2259T>C (p.Asn753=) n.2628T>C | |
13 | g.32336983T>G | CA387773219 | BRCA2 | c.2628T>G (p.Asn876Lys) c.2259T>G (p.Asn753Lys) n.2628T>G | |
13 | g.32336984C>A | CA10579543 | BRCA2 | c.2629C>A (p.Pro877Thr) c.2260C>A (p.Pro754Thr) n.2629C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336984C= | CA2082810082 | BRCA2 | c.2629C= (p.Pro877=) c.2260C= (p.Pro754=) n.2629C= | |
13 | g.32336984C>G | CA015892 | BRCA2 | c.2629C>G (p.Pro877Ala) c.2260C>G (p.Pro754Ala) n.2629C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336984C>T | CA015901 | BRCA2 | c.2629C>T (p.Pro877Ser) c.2260C>T (p.Pro754Ser) n.2629C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336985C>A | CA387773224 | BRCA2 | c.2630C>A (p.Pro877Gln) c.2261C>A (p.Pro754Gln) n.2630C>A | dbSNP |
13 | g.32336985C>G | CA387773225 | BRCA2 | c.2630C>G (p.Pro877Arg) c.2261C>G (p.Pro754Arg) n.2630C>G | dbSNP |
13 | g.32336985C>T | CA387773226 | BRCA2 | c.2630C>T (p.Pro877Leu) c.2261C>T (p.Pro754Leu) n.2630C>T | dbSNP gnomAD v4 |
13 | g.32336986A>C | CA483436974 | BRCA2 | c.2631A>C (p.Pro877=) c.2262A>C (p.Pro754=) n.2631A>C | |
13 | g.32336986A>G | CA483436976 | BRCA2 | c.2631A>G (p.Pro877=) c.2262A>G (p.Pro754=) n.2631A>G | ClinVar dbSNP |
13 | g.32336986A>T | CA483436975 | BRCA2 | c.2631A>T (p.Pro877=) c.2262A>T (p.Pro754=) n.2631A>T | ClinVar dbSNP |
13 | g.32336987G>A | CA387773228 | BRCA2 | c.2632G>A (p.Asp878Asn) c.2263G>A (p.Asp755Asn) n.2632G>A | dbSNP COSMIC COSMIC |
13 | g.32336987G>C | CA387773231 | BRCA2 | c.2632G>C (p.Asp878His) c.2263G>C (p.Asp755His) n.2632G>C | ClinVar dbSNP |
13 | g.32336987G= | CA2082810097 | BRCA2 | c.2632G= (p.Asp878=) c.2263G= (p.Asp755=) n.2632G= | |
13 | g.32336987G>T | CA387773232 | BRCA2 | c.2632G>T (p.Asp878Tyr) c.2263G>T (p.Asp755Tyr) n.2632G>T | |
13 | g.32336988A= | CA2082810109 | BRCA2 | c.2633A= (p.Asp878=) c.2264A= (p.Asp755=) n.2633A= | |
13 | g.32336988A>C | CA387773234 | BRCA2 | c.2633A>C (p.Asp878Ala) c.2264A>C (p.Asp755Ala) n.2633A>C | ClinVar dbSNP |
13 | g.32336988A>G | CA387773235 | BRCA2 | c.2633A>G (p.Asp878Gly) c.2264A>G (p.Asp755Gly) n.2633A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336988A>T | CA6940617 | BRCA2 | c.2633A>T (p.Asp878Val) c.2264A>T (p.Asp755Val) n.2633A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336988_32336990delinsACT | CA2082810111 | BRCA2 | c.2633_2635delinsACT (p.Asp878=) c.2264_2266delinsACT (p.Asp755=) n.2633_2635delinsACT | |
13 | g.32336989C>A | CA387773237 | BRCA2 | c.2634C>A (p.Asp878Glu) c.2265C>A (p.Asp755Glu) n.2634C>A | dbSNP |
13 | g.32336989C>G | CA387773240 | BRCA2 | c.2634C>G (p.Asp878Glu) c.2265C>G (p.Asp755Glu) n.2634C>G | dbSNP |
13 | g.32336989C>T | CA483436987 | BRCA2 | c.2634C>T (p.Asp878=) c.2265C>T (p.Asp755=) n.2634C>T | dbSNP |
13 | g.32336991_32336992del | CA015907 | BRCA2 | c.2636_2637del (p.Ser879Ter) c.2267_2268del (p.Ser756Ter) n.2636_2637del | ClinVar dbSNP gnomAD v4 |
13 | g.32336990T>A | CA387773244 | BRCA2 | c.2635T>A (p.Ser879Thr) c.2266T>A (p.Ser756Thr) n.2635T>A | ClinVar dbSNP |
13 | g.32336990T>C | CA6940618 | BRCA2 | c.2635T>C (p.Ser879Pro) c.2266T>C (p.Ser756Pro) n.2635T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336990T>G | CA387773242 | BRCA2 | c.2635T>G (p.Ser879Ala) c.2266T>G (p.Ser756Ala) n.2635T>G | |
13 | g.32336990T= | CA2082810122 | BRCA2 | c.2635T= (p.Ser879=) c.2266T= (p.Ser756=) n.2635T= | |
13 | g.32336991C>A | CA387773245 | BRCA2 | c.2636C>A (p.Ser879Tyr) c.2267C>A (p.Ser756Tyr) n.2636C>A | ClinVar dbSNP |
13 | g.32336991C= | CA2082810128 | BRCA2 | c.2636C= (p.Ser879=) c.2267C= (p.Ser756=) n.2636C= | |
13 | g.32336991C>G | CA16619674 | BRCA2 | c.2636C>G (p.Ser879Cys) c.2267C>G (p.Ser756Cys) n.2636C>G | ClinVar dbSNP |
13 | g.32336991C>T | CA387773247 | BRCA2 | c.2636C>T (p.Ser879Phe) c.2267C>T (p.Ser756Phe) n.2636C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32336991dup | CA2695218012 | BRCA2 | c.2636dup (p.Glu880Ter) c.2267dup (p.Glu757Ter) n.2636dup | |
13 | g.32336991_32336993delinsCTG | CA2082810127 | BRCA2 | c.2636_2638delinsCTG (p.Ser879=) c.2267_2269delinsCTG (p.Ser756=) n.2636_2638delinsCTG | |
13 | g.32336992T>A | CA483436996 | BRCA2 | c.2637T>A (p.Ser879=) c.2268T>A (p.Ser756=) n.2637T>A | dbSNP |
13 | g.32336992T>C | CA483436995 | BRCA2 | c.2637T>C (p.Ser879=) c.2268T>C (p.Ser756=) n.2637T>C | ClinVar dbSNP |
13 | g.32336992T>G | CA483436994 | BRCA2 | c.2637T>G (p.Ser879=) c.2268T>G (p.Ser756=) n.2637T>G | |
13 | g.32336992_32336993del | CA015917 | BRCA2 | c.2637_2638del (p.Glu880ArgfsTer7) c.2268_2269del (p.Glu757ArgfsTer7) n.2637_2638del | ClinVar dbSNP |
13 | g.32336992_32336995delinsTGAA | CA2082810135 | BRCA2 | c.2637_2640delinsTGAA (p.Ser879=) c.2268_2271delinsTGAA (p.Ser756=) n.2637_2640delinsTGAA | |
13 | g.32336993G>A | CA387773252 | BRCA2 | c.2638G>A (p.Glu880Lys) c.2269G>A (p.Glu757Lys) n.2638G>A | dbSNP |
13 | g.32336993G>C | CA387773249 | BRCA2 | c.2638G>C (p.Glu880Gln) c.2269G>C (p.Glu757Gln) n.2638G>C | dbSNP |
13 | g.32336993G>T | CA387773250 | BRCA2 | c.2638G>T (p.Glu880Ter) c.2269G>T (p.Glu757Ter) n.2638G>T | |
13 | g.32336996_32336998del | CA919242564 | BRCA2 | c.2641_2643del (p.Glu881del) c.2272_2274del (p.Glu758del) n.2641_2643del | dbSNP |
13 | g.32336994A>C | CA387773253 | BRCA2 | c.2639A>C (p.Glu880Ala) c.2270A>C (p.Glu757Ala) n.2639A>C | |
13 | g.32336994A>G | CA387773255 | BRCA2 | c.2639A>G (p.Glu880Gly) c.2270A>G (p.Glu757Gly) n.2639A>G | dbSNP |
13 | g.32336994A>T | CA387773257 | BRCA2 | c.2639A>T (p.Glu880Val) c.2270A>T (p.Glu757Val) n.2639A>T | dbSNP |
13 | g.32336995A>C | CA387773259 | BRCA2 | c.2640A>C (p.Glu880Asp) c.2271A>C (p.Glu757Asp) n.2640A>C | |
13 | g.32336995A>G | CA483437005 | BRCA2 | c.2640A>G (p.Glu880=) c.2271A>G (p.Glu757=) n.2640A>G | |
13 | g.32336995A>T | CA387773260 | BRCA2 | c.2640A>T (p.Glu880Asp) c.2271A>T (p.Glu757Asp) n.2640A>T | dbSNP |
13 | g.32336996del | CA1139771729 | BRCA2 | c.2641del (p.Glu881AsnfsTer14) c.2272del (p.Glu758AsnfsTer14) n.2641del | |
13 | g.32336996G>A | CA387773262 | BRCA2 | c.2641G>A (p.Glu881Lys) c.2272G>A (p.Glu758Lys) n.2641G>A | dbSNP gnomAD v4 |
13 | g.32336996G>C | CA387773265 | BRCA2 | c.2641G>C (p.Glu881Gln) c.2272G>C (p.Glu758Gln) n.2641G>C | dbSNP |
13 | g.32336996G= | CA2082810140 | BRCA2 | c.2641G= (p.Glu881=) c.2272G= (p.Glu758=) n.2641G= | |
13 | g.32336996G>T | CA10579544 | BRCA2 | c.2641G>T (p.Glu881Ter) c.2272G>T (p.Glu758Ter) n.2641G>T | ClinVar dbSNP |
13 | g.32336997A= | CA2082810148 | BRCA2 | c.2642A= (p.Glu881=) c.2273A= (p.Glu758=) n.2642A= | |
13 | g.32336997A>C | CA387773267 | BRCA2 | c.2642A>C (p.Glu881Ala) c.2273A>C (p.Glu758Ala) n.2642A>C | |
13 | g.32336997A>G | CA387773269 | BRCA2 | c.2642A>G (p.Glu881Gly) c.2273A>G (p.Glu758Gly) n.2642A>G | ClinVar dbSNP |
13 | g.32336997A>T | CA387773270 | BRCA2 | c.2642A>T (p.Glu881Val) c.2273A>T (p.Glu758Val) n.2642A>T | dbSNP |
13 | g.32336998A= | CA2082810153 | BRCA2 | c.2643A= (p.Glu881=) c.2274A= (p.Glu758=) n.2643A= | |
13 | g.32336998A>C | CA387773272 | BRCA2 | c.2643A>C (p.Glu881Asp) c.2274A>C (p.Glu758Asp) n.2643A>C | |
13 | g.32336998A>G | CA483437014 | BRCA2 | c.2643A>G (p.Glu881=) c.2274A>G (p.Glu758=) n.2643A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32336998A>T | CA387773273 | BRCA2 | c.2643A>T (p.Glu881Asp) c.2274A>T (p.Glu758Asp) n.2643A>T | dbSNP |
13 | g.32336998_32336999delinsAC | CA2082810152 | BRCA2 | c.2643_2644delinsAC (p.Glu881=) c.2274_2275delinsAC (p.Glu758=) n.2643_2644delinsAC | |
13 | g.32336999del | CA658683839 | BRCA2 | c.2644del (p.Leu882PhefsTer13) c.2275del (p.Leu759PhefsTer13) n.2644del | ClinVar dbSNP |
13 | g.32336999C>A | CA6940619 | BRCA2 | c.2644C>A (p.Leu882Ile) c.2275C>A (p.Leu759Ile) n.2644C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336999C= | CA2082810169 | BRCA2 | c.2644C= (p.Leu882=) c.2275C= (p.Leu759=) n.2644C= | |
13 | g.32336999C>G | CA387773275 | BRCA2 | c.2644C>G (p.Leu882Val) c.2275C>G (p.Leu759Val) n.2644C>G | dbSNP |
13 | g.32336999C>T | CA387773276 | BRCA2 | c.2644C>T (p.Leu882Phe) c.2275C>T (p.Leu759Phe) n.2644C>T | |
13 | g.32336999_32337000delinsCT | CA2082810172 | BRCA2 | c.2644_2645delinsCT (p.Leu882=) c.2275_2276delinsCT (p.Leu759=) n.2644_2645delinsCT | |
13 | g.32337000T>A | CA387773278 | BRCA2 | c.2645T>A (p.Leu882His) c.2276T>A (p.Leu759His) n.2645T>A | dbSNP |
13 | g.32337000T>C | CA387773280 | BRCA2 | c.2645T>C (p.Leu882Pro) c.2276T>C (p.Leu759Pro) n.2645T>C | dbSNP |
13 | g.32337000T>G | CA387773282 | BRCA2 | c.2645T>G (p.Leu882Arg) c.2276T>G (p.Leu759Arg) n.2645T>G | |
13 | g.32337003del | CA10586504 | BRCA2 | c.2648del (p.Phe883SerfsTer12) c.2279del (p.Phe760SerfsTer12) n.2648del | ClinVar dbSNP |
13 | g.32337001T>A | CA10587170 | BRCA2 | c.2646T>A (p.Leu882=) c.2277T>A (p.Leu759=) n.2646T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337001T>C | CA483437021 | BRCA2 | c.2646T>C (p.Leu882=) c.2277T>C (p.Leu759=) n.2646T>C | dbSNP |
13 | g.32337001T>G | CA483437022 | BRCA2 | c.2646T>G (p.Leu882=) c.2277T>G (p.Leu759=) n.2646T>G | |
13 | g.32337001T= | CA2082810210 | BRCA2 | c.2646T= (p.Leu882=) c.2277T= (p.Leu759=) n.2646T= | |
13 | g.32337002T>A | CA387773286 | BRCA2 | c.2647T>A (p.Phe883Ile) c.2278T>A (p.Phe760Ile) n.2647T>A | |
13 | g.32337002T>C | CA387773284 | BRCA2 | c.2647T>C (p.Phe883Leu) c.2278T>C (p.Phe760Leu) n.2647T>C | ClinVar |
13 | g.32337002T>G | CA387773287 | BRCA2 | c.2647T>G (p.Phe883Val) c.2278T>G (p.Phe760Val) n.2647T>G | |
13 | g.32337003T>A | CA387773289 | BRCA2 | c.2648T>A (p.Phe883Tyr) c.2279T>A (p.Phe760Tyr) n.2648T>A | dbSNP |
13 | g.32337003T>C | CA387773290 | BRCA2 | c.2648T>C (p.Phe883Ser) c.2279T>C (p.Phe760Ser) n.2648T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337003T>G | CA387773292 | BRCA2 | c.2648T>G (p.Phe883Cys) c.2279T>G (p.Phe760Cys) n.2648T>G | |
13 | g.32337003T= | CA2082810216 | BRCA2 | c.2648T= (p.Phe883=) c.2279T= (p.Phe760=) n.2648T= | |
13 | g.32337003_32337005delinsG | CA2499222112 | BRCA2 | c.2648_2650delinsG (p.Phe883CysfsTer4) c.2279_2281delinsG (p.Phe760CysfsTer4) n.2648_2650delinsG | |
13 | g.32337003_32337005delinsCC | CA2582341839 | BRCA2 | c.2648_2650delinsCC (p.Phe883SerfsTer12) c.2279_2281delinsCC (p.Phe760SerfsTer12) n.2648_2650delinsCC | ClinVar |
13 | g.32337004C>A | CA387773294 | BRCA2 | c.2649C>A (p.Phe883Leu) c.2280C>A (p.Phe760Leu) n.2649C>A | dbSNP |
13 | g.32337004C>G | CA387773296 | BRCA2 | c.2649C>G (p.Phe883Leu) c.2280C>G (p.Phe760Leu) n.2649C>G | dbSNP |
13 | g.32337004C>T | CA483437027 | BRCA2 | c.2649C>T (p.Phe883=) c.2280C>T (p.Phe760=) n.2649C>T | dbSNP COSMIC COSMIC |
13 | g.32337004_32337005delinsCT | CA2082810224 | BRCA2 | c.2649_2650delinsCT (p.Phe883=) c.2280_2281delinsCT (p.Phe760=) n.2649_2650delinsCT | |
13 | g.32337005del | CA10589165 | BRCA2 | c.2650del (p.Ser884GlnfsTer11) c.2281del (p.Ser761GlnfsTer11) n.2650del | ClinVar dbSNP |
13 | g.32337005T>A | CA387773302 | BRCA2 | c.2650T>A (p.Ser884Thr) c.2281T>A (p.Ser761Thr) n.2650T>A | dbSNP |
13 | g.32337005T>C | CA387773298 | BRCA2 | c.2650T>C (p.Ser884Pro) c.2281T>C (p.Ser761Pro) n.2650T>C | ClinVar dbSNP |
13 | g.32337005T>G | CA387773301 | BRCA2 | c.2650T>G (p.Ser884Ala) c.2281T>G (p.Ser761Ala) n.2650T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337005T= | CA2082810233 | BRCA2 | c.2650T= (p.Ser884=) c.2281T= (p.Ser761=) n.2650T= | |
13 | g.32337005_32337009delinsTCAGA | CA2082810232 | BRCA2 | c.2650_2654delinsTCAGA (p.Ser884=) c.2281_2285delinsTCAGA (p.Ser761=) n.2650_2654delinsTCAGA | |
13 | g.32337005_32337011delinsC | CA913188617 | BRCA2 | c.2650_2656delinsC (p.Ser884_Asn886delinsHis) c.2281_2287delinsC (p.Ser761_Asn763delinsHis) n.2650_2656delinsC | |
13 | g.32337005_32337015del | CA2622601022 | BRCA2 | c.2650_2660del (p.Ser884GlufsTer2) c.2281_2291del (p.Ser761GlufsTer2) n.2650_2660del | ClinVar gnomAD v4 |
13 | g.32337006C>A | CA10586505 | BRCA2 | c.2651C>A (p.Ser884Ter) c.2282C>A (p.Ser761Ter) n.2651C>A | ClinVar dbSNP |
13 | g.32337006C= | CA2082810257 | BRCA2 | c.2651C= (p.Ser884=) c.2282C= (p.Ser761=) n.2651C= | |
13 | g.32337006C>G | CA10579545 | BRCA2 | c.2651C>G (p.Ser884Ter) c.2282C>G (p.Ser761Ter) n.2651C>G | ClinVar dbSNP |
13 | g.32337006C>T | CA6940620 | BRCA2 | c.2651C>T (p.Ser884Leu) c.2282C>T (p.Ser761Leu) n.2651C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337008_32337011del | CA015942 | BRCA2 | c.2653_2656del (p.Asp885MetfsTer9) c.2284_2287del (p.Asp762MetfsTer9) n.2653_2656del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32337007A>C | CA483437039 | BRCA2 | c.2652A>C (p.Ser884=) c.2283A>C (p.Ser761=) n.2652A>C | |
13 | g.32337007A>G | CA483437040 | BRCA2 | c.2652A>G (p.Ser884=) c.2283A>G (p.Ser761=) n.2652A>G | dbSNP |
13 | g.32337007A>T | CA483437042 | BRCA2 | c.2652A>T (p.Ser884=) c.2283A>T (p.Ser761=) n.2652A>T | dbSNP |
13 | g.32337008G>A | CA387773308 | BRCA2 | c.2653G>A (p.Asp885Asn) c.2284G>A (p.Asp762Asn) n.2653G>A | dbSNP |
13 | g.32337008G>C | CA387773311 | BRCA2 | c.2653G>C (p.Asp885His) c.2284G>C (p.Asp762His) n.2653G>C | dbSNP |
13 | g.32337008G>T | CA387773310 | BRCA2 | c.2653G>T (p.Asp885Tyr) c.2284G>T (p.Asp762Tyr) n.2653G>T | dbSNP |
13 | g.32337008_32337010delinsGAC | CA2082810273 | BRCA2 | c.2653_2655delinsGAC (p.Asp885=) c.2284_2286delinsGAC (p.Asp762=) n.2653_2655delinsGAC | |
13 | g.32337009del | CA483437048 | BRCA2 | c.2654del (p.Asp885AlafsTer10) c.2285del (p.Asp762AlafsTer10) n.2654del | ClinVar dbSNP COSMIC |
13 | g.32337009A= | CA2082810287 | BRCA2 | c.2654A= (p.Asp885=) c.2285A= (p.Asp762=) n.2654A= | |
13 | g.32337009A>C | CA387773314 | BRCA2 | c.2654A>C (p.Asp885Ala) c.2285A>C (p.Asp762Ala) n.2654A>C | |
13 | g.32337009A>G | CA015947 | BRCA2 | c.2654A>G (p.Asp885Gly) c.2285A>G (p.Asp762Gly) n.2654A>G | ClinVar dbSNP |
13 | g.32337009A>T | CA387773316 | BRCA2 | c.2654A>T (p.Asp885Val) c.2285A>T (p.Asp762Val) n.2654A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337010_32337011del | CA6940621 | BRCA2 | c.2655_2656del (p.Asp885GlufsTer2) c.2286_2287del (p.Asp762GlufsTer2) n.2655_2656del | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32337010C>A | CA387773319 | BRCA2 | c.2655C>A (p.Asp885Glu) c.2286C>A (p.Asp762Glu) n.2655C>A | dbSNP |
13 | g.32337010C= | CA2082810294 | BRCA2 | c.2655C= (p.Asp885=) c.2286C= (p.Asp762=) n.2655C= | |
13 | g.32337010C>G | CA387773321 | BRCA2 | c.2655C>G (p.Asp885Glu) c.2286C>G (p.Asp762Glu) n.2655C>G | dbSNP |
13 | g.32337010C>T | CA483437056 | BRCA2 | c.2655C>T (p.Asp885=) c.2286C>T (p.Asp762=) n.2655C>T | ClinVar dbSNP |
13 | g.32337010_32337011delinsCA | CA2082810293 | BRCA2 | c.2655_2656delinsCA (p.Asp885=) c.2286_2287delinsCA (p.Asp762=) n.2655_2656delinsCA | |
13 | g.32337011A= | CA2082810305 | BRCA2 | c.2656A= (p.Asn886=) c.2287A= (p.Asn763=) n.2656A= | |
13 | g.32337011A>C | CA387773323 | BRCA2 | c.2656A>C (p.Asn886His) c.2287A>C (p.Asn763His) n.2656A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337011A>G | CA387773325 | BRCA2 | c.2656A>G (p.Asn886Asp) c.2287A>G (p.Asn763Asp) n.2656A>G | ClinVar |
13 | g.32337011A>T | CA387773326 | BRCA2 | c.2656A>T (p.Asn886Tyr) c.2287A>T (p.Asn763Tyr) n.2656A>T | dbSNP |
13 | g.32337011_32337012del | CA2581463423 | BRCA2 | c.2656_2657del (p.Asn886Ter) c.2287_2288del (p.Asn763Ter) n.2656_2657del | |
13 | g.32337012del | CA10589166 | BRCA2 | c.2657del (p.Asn886MetfsTer9) c.2288del (p.Asn763MetfsTer9) n.2657del | ClinVar dbSNP |
13 | g.32337012A= | CA2082810312 | BRCA2 | c.2657A= (p.Asn886=) c.2288A= (p.Asn763=) n.2657A= | |
13 | g.32337012A>C | CA387773328 | BRCA2 | c.2657A>C (p.Asn886Thr) c.2288A>C (p.Asn763Thr) n.2657A>C | |
13 | g.32337012A>G | CA015957 | BRCA2 | c.2657A>G (p.Asn886Ser) c.2288A>G (p.Asn763Ser) n.2657A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337012A>T | CA015961 | BRCA2 | c.2657A>T (p.Asn886Ile) c.2288A>T (p.Asn763Ile) n.2657A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337012_32337014delinsATG | CA2082810311 | BRCA2 | c.2657_2659delinsATG (p.Asn886=) c.2288_2290delinsATG (p.Asn763=) n.2657_2659delinsATG | |
13 | g.32337013T>A | CA387773332 | BRCA2 | c.2658T>A (p.Asn886Lys) c.2289T>A (p.Asn763Lys) n.2658T>A | dbSNP |
13 | g.32337013T>C | CA483437071 | BRCA2 | c.2658T>C (p.Asn886=) c.2289T>C (p.Asn763=) n.2658T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337013T>G | CA387773333 | BRCA2 | c.2658T>G (p.Asn886Lys) c.2289T>G (p.Asn763Lys) n.2658T>G | gnomAD v4 |
13 | g.32337013T= | CA2082810338 | BRCA2 | c.2658T= (p.Asn886=) c.2289T= (p.Asn763=) n.2658T= | |
13 | g.32337013_32337014del | CA015970 | BRCA2 | c.2658_2659del (p.Asn886LysfsTer3) c.2289_2290del (p.Asn763LysfsTer3) n.2658_2659del | ClinVar dbSNP |
13 | g.32337013_32337014dup | CA6940622 | BRCA2 | c.2658_2659dup (p.Glu887ValfsTer9) c.2289_2290dup (p.Glu764ValfsTer9) n.2658_2659dup | ClinVar dbSNP ExAC gnomAD v2 |