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.32336884A= | CA2082809293 | BRCA2 | c.2529A= (p.Ala843=) c.2160A= (p.Ala720=) n.2529A= | |
13 | g.32336884A>C | CA483437265 | BRCA2 | c.2529A>C (p.Ala843=) c.2160A>C (p.Ala720=) n.2529A>C | dbSNP |
13 | g.32336884A>G | CA483437266 | BRCA2 | c.2529A>G (p.Ala843=) c.2160A>G (p.Ala720=) n.2529A>G | ClinVar dbSNP |
13 | g.32336884A>T | CA483437267 | BRCA2 | c.2529A>T (p.Ala843=) c.2160A>T (p.Ala720=) n.2529A>T | dbSNP |
13 | g.32336885T>A | CA387772483 | BRCA2 | c.2530T>A (p.Ser844Thr) c.2161T>A (p.Ser721Thr) n.2530T>A | dbSNP |
13 | g.32336885T>C | CA387772484 | BRCA2 | c.2530T>C (p.Ser844Pro) c.2161T>C (p.Ser721Pro) n.2530T>C | dbSNP |
13 | g.32336885T>G | CA387772485 | BRCA2 | c.2530T>G (p.Ser844Ala) c.2161T>G (p.Ser721Ala) n.2530T>G | dbSNP |
13 | g.32336885T= | CA2082809294 | BRCA2 | c.2530T= (p.Ser844=) c.2161T= (p.Ser721=) n.2530T= | |
13 | g.32336886C>A | CA387772486 | BRCA2 | c.2531C>A (p.Ser844Ter) c.2162C>A (p.Ser721Ter) n.2531C>A | dbSNP |
13 | g.32336886C>G | CA387772487 | BRCA2 | c.2531C>G (p.Ser844Ter) c.2162C>G (p.Ser721Ter) n.2531C>G | dbSNP |
13 | g.32336886C>T | CA387772488 | BRCA2 | c.2531C>T (p.Ser844Leu) c.2162C>T (p.Ser721Leu) n.2531C>T | dbSNP |
13 | g.32336886_32336887insCC | CA2082809296 | BRCA2 | c.2531_2532insCC (p.Pro845HisfsTer14) c.2162_2163insCC (p.Pro722HisfsTer14) n.2531_2532insCC | dbSNP |
13 | g.32336887A= | CA2082809301 | BRCA2 | c.2532A= (p.Ser844=) c.2163A= (p.Ser721=) n.2532A= | |
13 | g.32336887A>C | CA483437268 | BRCA2 | c.2532A>C (p.Ser844=) c.2163A>C (p.Ser721=) n.2532A>C | dbSNP gnomAD v4 |
13 | g.32336887A>G | CA483437269 | BRCA2 | c.2532A>G (p.Ser844=) c.2163A>G (p.Ser721=) n.2532A>G | dbSNP |
13 | g.32336887A>T | CA483437270 | BRCA2 | c.2532A>T (p.Ser844=) c.2163A>T (p.Ser721=) n.2532A>T | ClinVar dbSNP |
13 | g.32336888C>A | CA387772489 | BRCA2 | c.2533C>A (p.Pro845Thr) c.2164C>A (p.Pro722Thr) n.2533C>A | dbSNP |
13 | g.32336888C>G | CA387772490 | BRCA2 | c.2533C>G (p.Pro845Ala) c.2164C>G (p.Pro722Ala) n.2533C>G | dbSNP |
13 | g.32336888C>T | CA387772491 | BRCA2 | c.2533C>T (p.Pro845Ser) c.2164C>T (p.Pro722Ser) n.2533C>T | ClinVar dbSNP |
13 | g.32336888_32336889delinsGA | CA2499222107 | BRCA2 | c.2533_2534delinsGA (p.Pro845Asp) c.2164_2165delinsGA (p.Pro722Asp) n.2533_2534delinsGA | ClinVar dbSNP |
13 | g.32336889dup | CA2580087279 | BRCA2 | c.2534dup (p.Ser846PhefsTer?) c.2165dup (p.Ser723PhefsTer?) n.2534dup | ClinVar |
13 | g.32336889C>A | CA387772493 | BRCA2 | c.2534C>A (p.Pro845His) c.2165C>A (p.Pro722His) n.2534C>A | gnomAD v4 |
13 | g.32336889C= | CA2082809306 | BRCA2 | c.2534C= (p.Pro845=) c.2165C= (p.Pro722=) n.2534C= | |
13 | g.32336889C>G | CA387772494 | BRCA2 | c.2534C>G (p.Pro845Arg) c.2165C>G (p.Pro722Arg) n.2534C>G | |
13 | g.32336889C>T | CA387772492 | BRCA2 | c.2534C>T (p.Pro845Leu) c.2165C>T (p.Pro722Leu) n.2534C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336889_32336890dup | CA2580087280 | BRCA2 | c.2534_2535dup (p.Ser846LeufsTer13) c.2165_2166dup (p.Ser723LeufsTer13) n.2534_2535dup | ClinVar dbSNP |
13 | g.32336889_32336895delinsTTTAT | CA2580614655 | BRCA2 | c.2534_2540delinsTTTAT (p.Pro845LeufsTer?) c.2165_2171delinsTTTAT (p.Pro722LeufsTer?) n.2534_2540delinsTTTAT | ClinVar |
13 | g.32336890T>A | CA483437271 | BRCA2 | c.2535T>A (p.Pro845=) c.2166T>A (p.Pro722=) n.2535T>A | dbSNP |
13 | g.32336890T>C | CA483437272 | BRCA2 | c.2535T>C (p.Pro845=) c.2166T>C (p.Pro722=) n.2535T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32336890T>G | CA6940611 | BRCA2 | c.2535T>G (p.Pro845=) c.2166T>G (p.Pro722=) n.2535T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336890T= | CA2082809313 | BRCA2 | c.2535T= (p.Pro845=) c.2166T= (p.Pro722=) n.2535T= | |
13 | g.32336890_32336893dup | CA2499222108 | BRCA2 | c.2535_2538dup (p.Arg847PhefsTer?) c.2166_2169dup (p.Arg724PhefsTer?) n.2535_2538dup | ClinVar dbSNP |
13 | g.32336891T>A | CA387772495 | BRCA2 | c.2536T>A (p.Ser846Thr) c.2167T>A (p.Ser723Thr) n.2536T>A | dbSNP |
13 | g.32336891T>C | CA247502495 | BRCA2 | c.2536T>C (p.Ser846Pro) c.2167T>C (p.Ser723Pro) n.2536T>C | dbSNP |
13 | g.32336891T>G | CA387772496 | BRCA2 | c.2536T>G (p.Ser846Ala) c.2167T>G (p.Ser723Ala) n.2536T>G | |
13 | g.32336891T= | CA2082809319 | BRCA2 | c.2536T= (p.Ser846=) c.2167T= (p.Ser723=) n.2536T= | |
13 | g.32336892C>A | CA387772497 | BRCA2 | c.2537C>A (p.Ser846Ter) c.2168C>A (p.Ser723Ter) n.2537C>A | dbSNP |
13 | g.32336892C= | CA2082809325 | BRCA2 | c.2537C= (p.Ser846=) c.2168C= (p.Ser723=) n.2537C= | |
13 | g.32336892C>G | CA015578 | BRCA2 | c.2537C>G (p.Ser846Ter) c.2168C>G (p.Ser723Ter) n.2537C>G | ClinVar dbSNP |
13 | g.32336892C>T | CA387772498 | BRCA2 | c.2537C>T (p.Ser846Leu) c.2168C>T (p.Ser723Leu) n.2537C>T | ClinVar dbSNP |
13 | g.32336893A= | CA2082809341 | BRCA2 | c.2538A= (p.Ser846=) c.2169A= (p.Ser723=) n.2538A= | |
13 | g.32336893A>C | CA015586 | BRCA2 | c.2538A>C (p.Ser846=) c.2169A>C (p.Ser723=) n.2538A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336893A>G | CA015594 | BRCA2 | c.2538A>G (p.Ser846=) c.2169A>G (p.Ser723=) n.2538A>G | ClinVar dbSNP |
13 | g.32336893A>T | CA483437275 | BRCA2 | c.2538A>T (p.Ser846=) c.2169A>T (p.Ser723=) n.2538A>T | dbSNP |
13 | g.32336894dup | CA10589162 | BRCA2 | c.2539dup (p.Arg847LysfsTer?) c.2170dup (p.Arg724LysfsTer?) n.2539dup | ClinVar dbSNP |
13 | g.32336894A= | CA2082809374 | BRCA2 | c.2539A= (p.Arg847=) c.2170A= (p.Arg724=) n.2539A= | |
13 | g.32336894A>C | CA483437276 | BRCA2 | c.2539A>C (p.Arg847=) c.2170A>C (p.Arg724=) n.2539A>C | |
13 | g.32336894A>G | CA387772499 | BRCA2 | c.2539A>G (p.Arg847Gly) c.2170A>G (p.Arg724Gly) n.2539A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32336894A>T | CA10589161 | BRCA2 | c.2539A>T (p.Arg847Ter) c.2170A>T (p.Arg724Ter) n.2539A>T | ClinVar dbSNP |
13 | g.32336895G>A | CA16613862 | BRCA2 | c.2540G>A (p.Arg847Lys) c.2171G>A (p.Arg724Lys) n.2540G>A | ClinVar dbSNP |
13 | g.32336895G>C | CA387772500 | BRCA2 | c.2540G>C (p.Arg847Thr) c.2171G>C (p.Arg724Thr) n.2540G>C | dbSNP |
13 | g.32336895G= | CA2082809379 | BRCA2 | c.2540G= (p.Arg847=) c.2171G= (p.Arg724=) n.2540G= | |
13 | g.32336895G>T | CA387772501 | BRCA2 | c.2540G>T (p.Arg847Ile) c.2171G>T (p.Arg724Ile) n.2540G>T | |
13 | g.32336895_32336896delinsGA | CA2082809378 | BRCA2 | c.2540_2541delinsGA (p.Arg847=) c.2171_2172delinsGA (p.Arg724=) n.2540_2541delinsGA | |
13 | g.32336896A>C | CA387772502 | BRCA2 | c.2541A>C (p.Arg847Ser) c.2172A>C (p.Arg724Ser) n.2541A>C | |
13 | g.32336896A>G | CA483437277 | BRCA2 | c.2541A>G (p.Arg847=) c.2172A>G (p.Arg724=) n.2541A>G | dbSNP |
13 | g.32336896A>T | CA387772503 | BRCA2 | c.2541A>T (p.Arg847Ser) c.2172A>T (p.Arg724Ser) n.2541A>T | dbSNP |
13 | g.32336898del | CA1139663115 | BRCA2 | c.2543del (p.Lys848ArgfsTer10) c.2174del (p.Lys725ArgfsTer10) n.2543del | ClinVar dbSNP |
13 | g.32336897A>C | CA387772504 | BRCA2 | c.2542A>C (p.Lys848Gln) c.2173A>C (p.Lys725Gln) n.2542A>C | |
13 | g.32336897A>G | CA387772506 | BRCA2 | c.2542A>G (p.Lys848Glu) c.2173A>G (p.Lys725Glu) n.2542A>G | dbSNP |
13 | g.32336897A>T | CA387772505 | BRCA2 | c.2542A>T (p.Lys848Ter) c.2173A>T (p.Lys725Ter) n.2542A>T | dbSNP |
13 | g.32336898A= | CA2082809400 | BRCA2 | c.2543A= (p.Lys848=) c.2174A= (p.Lys725=) n.2543A= | |
13 | g.32336898A>C | CA387772507 | BRCA2 | c.2543A>C (p.Lys848Thr) c.2174A>C (p.Lys725Thr) n.2543A>C | |
13 | g.32336898A>G | CA387772508 | BRCA2 | c.2543A>G (p.Lys848Arg) c.2174A>G (p.Lys725Arg) n.2543A>G | ClinVar dbSNP |
13 | g.32336898A>T | CA387772509 | BRCA2 | c.2543A>T (p.Lys848Met) c.2174A>T (p.Lys725Met) n.2543A>T | dbSNP |
13 | g.32336898_32336899delinsAG | CA2082809398 | BRCA2 | c.2543_2544delinsAG (p.Lys848=) c.2174_2175delinsAG (p.Lys725=) n.2543_2544delinsAG | |
13 | g.32336899G>A | CA483437280 | BRCA2 | c.2544G>A (p.Lys848=) c.2175G>A (p.Lys725=) n.2544G>A | ClinVar dbSNP |
13 | g.32336899G>C | CA387772510 | BRCA2 | c.2544G>C (p.Lys848Asn) c.2175G>C (p.Lys725Asn) n.2544G>C | ClinVar dbSNP |
13 | g.32336899G= | CA2082809410 | BRCA2 | c.2544G= (p.Lys848=) c.2175G= (p.Lys725=) n.2544G= | |
13 | g.32336899G>T | CA247502516 | BRCA2 | c.2544G>T (p.Lys848Asn) c.2175G>T (p.Lys725Asn) n.2544G>T | dbSNP |
13 | g.32336900dup | CA2798719171 | BRCA2 | c.2545dup (p.Val849GlyfsTer?) c.2176dup (p.Val726GlyfsTer?) n.2545dup | |
13 | g.32336900del | CA015601 | BRCA2 | c.2545del (p.Val849TyrfsTer9) c.2176del (p.Val726TyrfsTer9) n.2545del | ClinVar dbSNP |
13 | g.32336900G>A | CA387772511 | BRCA2 | c.2545G>A (p.Val849Ile) c.2176G>A (p.Val726Ile) n.2545G>A | dbSNP |
13 | g.32336900G>C | CA387772512 | BRCA2 | c.2545G>C (p.Val849Leu) c.2176G>C (p.Val726Leu) n.2545G>C | dbSNP |
13 | g.32336900G= | CA2082809419 | BRCA2 | c.2545G= (p.Val849=) c.2176G= (p.Val726=) n.2545G= | |
13 | g.32336900G>T | CA015610 | BRCA2 | c.2545G>T (p.Val849Leu) c.2176G>T (p.Val726Leu) n.2545G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32336901del | CA2580614657 | BRCA2 | c.2546del (p.Val849AspfsTer9) c.2177del (p.Val726AspfsTer9) n.2546del | ClinVar |
13 | g.32336901T>A | CA387772514 | BRCA2 | c.2546T>A (p.Val849Glu) c.2177T>A (p.Val726Glu) n.2546T>A | dbSNP |
13 | g.32336901T>C | CA387772515 | BRCA2 | c.2546T>C (p.Val849Ala) c.2177T>C (p.Val726Ala) n.2546T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.32336901T>G | CA387772513 | BRCA2 | c.2546T>G (p.Val849Gly) c.2177T>G (p.Val726Gly) n.2546T>G | ClinVar dbSNP |
13 | g.32336901T= | CA2082809431 | BRCA2 | c.2546T= (p.Val849=) c.2177T= (p.Val726=) n.2546T= | |
13 | g.32336902A= | CA2082809456 | BRCA2 | c.2547A= (p.Val849=) c.2178A= (p.Val726=) n.2547A= | |
13 | g.32336902A>C | CA483437282 | BRCA2 | c.2547A>C (p.Val849=) c.2178A>C (p.Val726=) n.2547A>C | dbSNP |
13 | g.32336902A>G | CA483437284 | BRCA2 | c.2547A>G (p.Val849=) c.2178A>G (p.Val726=) n.2547A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32336902A>T | CA483437286 | BRCA2 | c.2547A>T (p.Val849=) c.2178A>T (p.Val726=) n.2547A>T | ClinVar dbSNP |
13 | g.32336903C>A | CA387772516 | BRCA2 | c.2548C>A (p.Gln850Lys) c.2179C>A (p.Gln727Lys) n.2548C>A | dbSNP |
13 | g.32336903C= | CA2082809460 | BRCA2 | c.2548C= (p.Gln850=) c.2179C= (p.Gln727=) n.2548C= | |
13 | g.32336903C>G | CA387772517 | BRCA2 | c.2548C>G (p.Gln850Glu) c.2179C>G (p.Gln727Glu) n.2548C>G | dbSNP |
13 | g.32336903C>T | CA10586502 | BRCA2 | c.2548C>T (p.Gln850Ter) c.2179C>T (p.Gln727Ter) n.2548C>T | ClinVar dbSNP |
13 | g.32336903_32336904insCC | CA2499222109 | BRCA2 | c.2548_2549insCC (p.Gln850ProfsTer9) c.2179_2180insCC (p.Gln727ProfsTer9) n.2548_2549insCC | ClinVar |
13 | g.32336903dup | CA658761167 | BRCA2 | c.2548dup (p.Gln850ProfsTer?) c.2179dup (p.Gln727ProfsTer?) n.2548dup | |
13 | g.32336906_32336910del | CA891842149 | BRCA2 | c.2551_2555del (p.Phe851ProfsTer28) c.2182_2186del (p.Phe728ProfsTer28) n.2551_2555del | ClinVar dbSNP |
13 | g.32336904A= | CA2082809469 | BRCA2 | c.2549A= (p.Gln850=) c.2180A= (p.Gln727=) n.2549A= | |
13 | g.32336904A>C | CA387772518 | BRCA2 | c.2549A>C (p.Gln850Pro) c.2180A>C (p.Gln727Pro) n.2549A>C | ClinVar dbSNP |
13 | g.32336904A>G | CA387772519 | BRCA2 | c.2549A>G (p.Gln850Arg) c.2180A>G (p.Gln727Arg) n.2549A>G | ClinVar dbSNP |
13 | g.32336904A>T | CA387772520 | BRCA2 | c.2549A>T (p.Gln850Leu) c.2180A>T (p.Gln727Leu) n.2549A>T | dbSNP |
13 | g.32336905A= | CA2082809475 | BRCA2 | c.2550A= (p.Gln850=) c.2181A= (p.Gln727=) n.2550A= | |
13 | g.32336905A>C | CA387772521 | BRCA2 | c.2550A>C (p.Gln850His) c.2181A>C (p.Gln727His) n.2550A>C | dbSNP |
13 | g.32336905A>G | CA015617 | BRCA2 | c.2550A>G (p.Gln850=) c.2181A>G (p.Gln727=) n.2550A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32336905A>T | CA387772522 | BRCA2 | c.2550A>T (p.Gln850His) c.2181A>T (p.Gln727His) n.2550A>T | dbSNP |
13 | g.32336906T>A | CA387772523 | BRCA2 | c.2551T>A (p.Phe851Ile) c.2182T>A (p.Phe728Ile) n.2551T>A | dbSNP |
13 | g.32336906T>C | CA387772524 | BRCA2 | c.2551T>C (p.Phe851Leu) c.2182T>C (p.Phe728Leu) n.2551T>C | ClinVar |
13 | g.32336906T>G | CA387772525 | BRCA2 | c.2551T>G (p.Phe851Val) c.2182T>G (p.Phe728Val) n.2551T>G | |
13 | g.32336907T>A | CA387772527 | BRCA2 | c.2552T>A (p.Phe851Tyr) c.2183T>A (p.Phe728Tyr) n.2552T>A | dbSNP |
13 | g.32336907T>C | CA387772528 | BRCA2 | c.2552T>C (p.Phe851Ser) c.2183T>C (p.Phe728Ser) n.2552T>C | |
13 | g.32336907T>G | CA387772526 | BRCA2 | c.2552T>G (p.Phe851Cys) c.2183T>G (p.Phe728Cys) n.2552T>G | |
13 | g.32336907_32336908delinsTC | CA2082809479 | BRCA2 | c.2552_2553delinsTC (p.Phe851=) c.2183_2184delinsTC (p.Phe728=) n.2552_2553delinsTC | |
13 | g.32336908del | CA10589163 | BRCA2 | c.2553del (p.Phe851LeufsTer7) c.2184del (p.Phe728LeufsTer7) n.2553del | ClinVar dbSNP |
13 | g.32336908C>A | CA387772529 | BRCA2 | c.2553C>A (p.Phe851Leu) c.2184C>A (p.Phe728Leu) n.2553C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32336908C= | CA2082809488 | BRCA2 | c.2553C= (p.Phe851=) c.2184C= (p.Phe728=) n.2553C= | |
13 | g.32336908C>G | CA387772530 | BRCA2 | c.2553C>G (p.Phe851Leu) c.2184C>G (p.Phe728Leu) n.2553C>G | dbSNP COSMIC COSMIC |
13 | g.32336908C>T | CA483437292 | BRCA2 | c.2553C>T (p.Phe851=) c.2184C>T (p.Phe728=) n.2553C>T | dbSNP gnomAD v4 |
13 | g.32336909A= | CA2082809499 | BRCA2 | c.2554A= (p.Asn852=) c.2185A= (p.Asn729=) n.2554A= | |
13 | g.32336909A>C | CA6940612 | BRCA2 | c.2554A>C (p.Asn852His) c.2185A>C (p.Asn729His) n.2554A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32336909A>G | CA387772531 | BRCA2 | c.2554A>G (p.Asn852Asp) c.2185A>G (p.Asn729Asp) n.2554A>G | |
13 | g.32336909A>T | CA387772532 | BRCA2 | c.2554A>T (p.Asn852Tyr) c.2185A>T (p.Asn729Tyr) n.2554A>T | dbSNP |
13 | g.32336909_32336914delinsT | CA2580614658 | BRCA2 | c.2554_2559delinsT (p.Asn852Ter) c.2185_2190delinsT (p.Asn729Ter) n.2554_2559delinsT | ClinVar |
13 | g.32336910A= | CA2082809509 | BRCA2 | c.2555A= (p.Asn852=) c.2186A= (p.Asn729=) n.2555A= | |
13 | g.32336910A>C | CA387772533 | BRCA2 | c.2555A>C (p.Asn852Thr) c.2186A>C (p.Asn729Thr) n.2555A>C | |
13 | g.32336910A>G | CA015629 | BRCA2 | c.2555A>G (p.Asn852Ser) c.2186A>G (p.Asn729Ser) n.2555A>G | ClinVar dbSNP |
13 | g.32336910A>T | CA387772534 | BRCA2 | c.2555A>T (p.Asn852Ile) c.2186A>T (p.Asn729Ile) n.2555A>T | |
13 | g.32336911C>A | CA387772535 | BRCA2 | c.2556C>A (p.Asn852Lys) c.2187C>A (p.Asn729Lys) n.2556C>A | |
13 | g.32336911C= | CA2082809514 | BRCA2 | c.2556C= (p.Asn852=) c.2187C= (p.Asn729=) n.2556C= | |
13 | g.32336911C>G | CA387772536 | BRCA2 | c.2556C>G (p.Asn852Lys) c.2187C>G (p.Asn729Lys) n.2556C>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32336911C>T | CA483437293 | BRCA2 | c.2556C>T (p.Asn852=) c.2187C>T (p.Asn729=) n.2556C>T | ClinVar dbSNP |
13 | g.32336912del | CA2727921436 | BRCA2 | c.2557del (p.Gln853LysfsTer5) c.2188del (p.Gln730LysfsTer5) n.2557del | dbSNP |
13 | g.32336911_32336912insATCAGATT | CA913188615 | BRCA2 | c.2556_2557insATCAGATT (p.Gln853IlefsTer8) c.2187_2188insATCAGATT (p.Gln730IlefsTer8) n.2556_2557insATCAGATT | ClinVar |
13 | g.32336912C>A | CA387772537 | BRCA2 | c.2557C>A (p.Gln853Lys) c.2188C>A (p.Gln730Lys) n.2557C>A | dbSNP |
13 | g.32336912C>G | CA387772538 | BRCA2 | c.2557C>G (p.Gln853Glu) c.2188C>G (p.Gln730Glu) n.2557C>G | dbSNP |
13 | g.32336912C>T | CA387772539 | BRCA2 | c.2557C>T (p.Gln853Ter) c.2188C>T (p.Gln730Ter) n.2557C>T | dbSNP |
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 |