Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32350726_32358449del | CA2843744634 | BRCA2 | c.7007+3830_7805+520del c.6638+3830_7436+520del n.7007+3830_7805+520del c.6911+3830_7709+520del | |
13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
13 | g.32356446_32356472delinsAGAATGCCAGAGATATACAGGATATGC | CA2082814115 | BRCA2 | c.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2485=) c.7085_7111delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2362=) c.19_45delinsAGAATGCCAGAGATATACAGGATATGC n.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC c.7358_7384delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2453=) | |
13 | g.32356451_32356476del | CA16619762 | BRCA2 | c.7459_7484del (p.Ala2487Ter) c.7090_7115del (p.Ala2364Ter) c.24_49del n.7459_7484del c.7363_7388del (p.Ala2455Ter) | ClinVar dbSNP |
13 | g.32356462_32356470del | CA2580614679 | BRCA2 | c.7470_7478del (p.Ile2490_Asp2492del) c.7101_7109del (p.Ile2367_Asp2369del) c.35_43del n.7470_7478del c.7374_7382del (p.Ile2458_Asp2460del) | ClinVar |
13 | g.32356465_32356467delinsGGA | CA2082814270 | BRCA2 | c.7473_7475delinsGGA (p.Gln2491=) c.7104_7106delinsGGA (p.Gln2368=) c.38_40delinsGGA n.7473_7475delinsGGA c.7377_7379delinsGGA (p.Gln2459=) | |
13 | g.32356466_32356467del | CA025107 | BRCA2 | c.7474_7475del (p.Asp2492TyrfsTer4) c.7105_7106del (p.Asp2369TyrfsTer4) c.39_40del n.7474_7475del c.7378_7379del (p.Asp2460TyrfsTer4) | ClinVar dbSNP |
13 | g.32356467A>C | CA387743249 | BRCA2 | c.7475A>C (p.Asp2492Ala) c.7106A>C (p.Asp2369Ala) c.40A>C n.7475A>C c.7379A>C (p.Asp2460Ala) | |
13 | g.32356467A>G | CA387743250 | BRCA2 | c.7475A>G (p.Asp2492Gly) c.7106A>G (p.Asp2369Gly) c.40A>G n.7475A>G c.7379A>G (p.Asp2460Gly) | |
13 | g.32356467A>T | CA387743248 | BRCA2 | c.7475A>T (p.Asp2492Val) c.7106A>T (p.Asp2369Val) c.40A>T n.7475A>T c.7379A>T (p.Asp2460Val) | |
13 | g.32356468T>A | CA387743251 | BRCA2 | c.7476T>A (p.Asp2492Glu) c.7107T>A (p.Asp2369Glu) c.41T>A n.7476T>A c.7380T>A (p.Asp2460Glu) | dbSNP |
13 | g.32356468T>C | CA483260371 | BRCA2 | c.7476T>C (p.Asp2492=) c.7107T>C (p.Asp2369=) c.41T>C n.7476T>C c.7380T>C (p.Asp2460=) | ClinVar gnomAD v4 |
13 | g.32356468T>G | CA387743253 | BRCA2 | c.7476T>G (p.Asp2492Glu) c.7107T>G (p.Asp2369Glu) c.41T>G n.7476T>G c.7380T>G (p.Asp2460Glu) | dbSNP |
13 | g.32356469A= | CA2082814287 | BRCA2 | c.7477A= (p.Met2493=) c.7108A= (p.Met2370=) c.42A= n.7477A= c.7381A= (p.Met2461=) | |
13 | g.32356469A>C | CA387743256 | BRCA2 | c.7477A>C (p.Met2493Leu) c.7108A>C (p.Met2370Leu) c.42A>C n.7477A>C c.7381A>C (p.Met2461Leu) | |
13 | g.32356469A>G | CA16619763 | BRCA2 | c.7477A>G (p.Met2493Val) c.7108A>G (p.Met2370Val) c.42A>G n.7477A>G c.7381A>G (p.Met2461Val) | ClinVar dbSNP |
13 | g.32356469A>T | CA387743260 | BRCA2 | c.7477A>T (p.Met2493Leu) c.7108A>T (p.Met2370Leu) c.42A>T n.7477A>T c.7381A>T (p.Met2461Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32356470T>A | CA387743264 | BRCA2 | c.7478T>A (p.Met2493Lys) c.7109T>A (p.Met2370Lys) c.43T>A n.7478T>A c.7382T>A (p.Met2461Lys) | dbSNP |
13 | g.32356470T>C | CA336705 | BRCA2 | c.7478T>C (p.Met2493Thr) c.7109T>C (p.Met2370Thr) c.43T>C n.7478T>C c.7382T>C (p.Met2461Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356470T>G | CA10583131 | BRCA2 | c.7478T>G (p.Met2493Arg) c.7109T>G (p.Met2370Arg) c.43T>G n.7478T>G c.7382T>G (p.Met2461Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356470T= | CA2082814304 | BRCA2 | c.7478T= (p.Met2493=) c.7109T= (p.Met2370=) c.43T= n.7478T= c.7382T= (p.Met2461=) | |
13 | g.32356471G>A | CA10577491 | BRCA2 | c.7479G>A (p.Met2493Ile) c.7110G>A (p.Met2370Ile) c.44G>A n.7479G>A c.7383G>A (p.Met2461Ile) | ClinVar dbSNP |
13 | g.32356471G>C | CA387743268 | BRCA2 | c.7479G>C (p.Met2493Ile) c.7110G>C (p.Met2370Ile) c.44G>C n.7479G>C c.7383G>C (p.Met2461Ile) | dbSNP |
13 | g.32356471G= | CA2082814315 | BRCA2 | c.7479G= (p.Met2493=) c.7110G= (p.Met2370=) c.44G= n.7479G= c.7383G= (p.Met2461=) | |
13 | g.32356471G>T | CA387743271 | BRCA2 | c.7479G>T (p.Met2493Ile) c.7110G>T (p.Met2370Ile) c.44G>T n.7479G>T c.7383G>T (p.Met2461Ile) | |
13 | g.32356472del | CA2830850668 | BRCA2 | c.7480del (p.Arg2494GlufsTer30) c.7111del (p.Arg2371GlufsTer30) c.45del n.7480del c.7384del (p.Arg2462GlufsTer30) | |
13 | g.32356472C>A | CA6941103 | BRCA2 | c.7480C>A (p.Arg2494=) c.7111C>A (p.Arg2371=) c.45C>A n.7480C>A c.7384C>A (p.Arg2462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356472C= | CA2082814341 | BRCA2 | c.7480C= (p.Arg2494=) c.7111C= (p.Arg2371=) c.45C= n.7480C= c.7384C= (p.Arg2462=) | |
13 | g.32356472C>G | CA387743274 | BRCA2 | c.7480C>G (p.Arg2494Gly) c.7111C>G (p.Arg2371Gly) c.45C>G n.7480C>G c.7384C>G (p.Arg2462Gly) | |
13 | g.32356472C>T | CA025108 | BRCA2 | c.7480C>T (p.Arg2494Ter) c.7111C>T (p.Arg2371Ter) c.45C>T n.7480C>T c.7384C>T (p.Arg2462Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356473G>A | CA025110 | BRCA2 | c.7481G>A (p.Arg2494Gln) c.7112G>A (p.Arg2371Gln) c.46G>A n.7481G>A c.7385G>A (p.Arg2462Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32356473G>C | CA387743276 | BRCA2 | c.7481G>C (p.Arg2494Pro) c.7112G>C (p.Arg2371Pro) c.46G>C n.7481G>C c.7385G>C (p.Arg2462Pro) | dbSNP |
13 | g.32356473G= | CA2082814345 | BRCA2 | c.7481G= (p.Arg2494=) c.7112G= (p.Arg2371=) c.46G= n.7481G= c.7385G= (p.Arg2462=) | |
13 | g.32356473G>T | CA387743275 | BRCA2 | c.7481G>T (p.Arg2494Leu) c.7112G>T (p.Arg2371Leu) c.46G>T n.7481G>T c.7385G>T (p.Arg2462Leu) | dbSNP |
13 | g.32356474A= | CA2082814350 | BRCA2 | c.7482A= (p.Arg2494=) c.7113A= (p.Arg2371=) c.47A= n.7482A= c.7386A= (p.Arg2462=) | |
13 | g.32356474A>C | CA483260372 | BRCA2 | c.7482A>C (p.Arg2494=) c.7113A>C (p.Arg2371=) c.47A>C n.7482A>C c.7386A>C (p.Arg2462=) | |
13 | g.32356474A>G | CA483260373 | BRCA2 | c.7482A>G (p.Arg2494=) c.7113A>G (p.Arg2371=) c.47A>G n.7482A>G c.7386A>G (p.Arg2462=) | |
13 | g.32356474A>T | CA483260374 | BRCA2 | c.7482A>T (p.Arg2494=) c.7113A>T (p.Arg2371=) c.47A>T n.7482A>T c.7386A>T (p.Arg2462=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356474_32356475insCC | CA2499222289 | BRCA2 | c.7482_7483insCC (p.Ile2495ProfsTer30) c.7113_7114insCC (p.Ile2372ProfsTer30) c.47_48insCC n.7482_7483insCC c.7386_7387insCC (p.Ile2463ProfsTer30) | |
13 | g.32356475A= | CA2082814357 | BRCA2 | c.7483A= (p.Ile2495=) c.7114A= (p.Ile2372=) c.48A= n.7483A= c.7387A= (p.Ile2463=) | |
13 | g.32356475A>C | CA387743279 | BRCA2 | c.7483A>C (p.Ile2495Leu) c.7114A>C (p.Ile2372Leu) c.48A>C n.7483A>C c.7387A>C (p.Ile2463Leu) | dbSNP |
13 | g.32356475A>G | CA247469723 | BRCA2 | c.7483A>G (p.Ile2495Val) c.7114A>G (p.Ile2372Val) c.48A>G n.7483A>G c.7387A>G (p.Ile2463Val) | dbSNP |
13 | g.32356475A>T | CA387743300 | BRCA2 | c.7483A>T (p.Ile2495Phe) c.7114A>T (p.Ile2372Phe) c.48A>T n.7483A>T c.7387A>T (p.Ile2463Phe) | dbSNP |
13 | g.32356475_32356476delinsAT | CA2082814354 | BRCA2 | c.7483_7484delinsAT (p.Ile2495=) c.7114_7115delinsAT (p.Ile2372=) c.48_49delinsAT n.7483_7484delinsAT c.7387_7388delinsAT (p.Ile2463=) | |
13 | g.32356476T>A | CA387743306 | BRCA2 | c.7484T>A (p.Ile2495Asn) c.7115T>A (p.Ile2372Asn) c.49T>A n.7484T>A c.7388T>A (p.Ile2463Asn) | dbSNP |
13 | g.32356476T>C | CA025112 | BRCA2 | c.7484T>C (p.Ile2495Thr) c.7115T>C (p.Ile2372Thr) c.49T>C n.7484T>C c.7388T>C (p.Ile2463Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356476T>G | CA387743314 | BRCA2 | c.7484T>G (p.Ile2495Ser) c.7115T>G (p.Ile2372Ser) c.49T>G n.7484T>G c.7388T>G (p.Ile2463Ser) | dbSNP |
13 | g.32356476T= | CA2082814366 | BRCA2 | c.7484T= (p.Ile2495=) c.7115T= (p.Ile2372=) c.49T= n.7484T= c.7388T= (p.Ile2463=) | |
13 | g.32356477dup | CA10589430 | BRCA2 | c.7485dup (p.Lys2496Ter) c.7116dup (p.Lys2373Ter) c.50dup n.7485dup c.7389dup (p.Lys2464Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356477del | CA10586577 | BRCA2 | c.7485del (p.Lys2496ArgfsTer28) c.7116del (p.Lys2373ArgfsTer28) c.50del n.7485del c.7389del (p.Lys2464ArgfsTer28) | ClinVar dbSNP |
13 | g.32356476_32356477insA | CA658823746 | BRCA2 | c.7484_7485insA (p.Lys2496Ter) c.7115_7116insA (p.Lys2373Ter) c.49_50insA n.7484_7485insA c.7388_7389insA (p.Lys2464Ter) | ClinVar dbSNP |
13 | g.32356477T>A | CA483260375 | BRCA2 | c.7485T>A (p.Ile2495=) c.7116T>A (p.Ile2372=) c.50T>A n.7485T>A c.7389T>A (p.Ile2463=) | |
13 | g.32356477T>C | CA483260376 | BRCA2 | c.7485T>C (p.Ile2495=) c.7116T>C (p.Ile2372=) c.50T>C n.7485T>C c.7389T>C (p.Ile2463=) | |
13 | g.32356477T>G | CA387743317 | BRCA2 | c.7485T>G (p.Ile2495Met) c.7116T>G (p.Ile2372Met) c.50T>G n.7485T>G c.7389T>G (p.Ile2463Met) | ClinVar dbSNP |
13 | g.32356477T= | CA2082814381 | BRCA2 | c.7485T= (p.Ile2495=) c.7116T= (p.Ile2372=) c.50T= n.7485T= c.7389T= (p.Ile2463=) | |
13 | g.32356477_32356480delinsTAAG | CA2082814379 | BRCA2 | c.7485_7488delinsTAAG (p.Ile2495=) c.7116_7119delinsTAAG (p.Ile2372=) c.50_53delinsTAAG n.7485_7488delinsTAAG c.7389_7392delinsTAAG (p.Ile2463=) | |
13 | g.32356478A= | CA2082814390 | BRCA2 | c.7486A= (p.Lys2496=) c.7117A= (p.Lys2373=) c.51A= n.7486A= c.7390A= (p.Lys2464=) | |
13 | g.32356478A>C | CA387743320 | BRCA2 | c.7486A>C (p.Lys2496Gln) c.7117A>C (p.Lys2373Gln) c.51A>C n.7486A>C c.7390A>C (p.Lys2464Gln) | |
13 | g.32356478A>G | CA387743323 | BRCA2 | c.7486A>G (p.Lys2496Glu) c.7117A>G (p.Lys2373Glu) c.51A>G n.7486A>G c.7390A>G (p.Lys2464Glu) | |
13 | g.32356478A>T | CA387743332 | BRCA2 | c.7486A>T (p.Lys2496Ter) c.7117A>T (p.Lys2373Ter) c.51A>T n.7486A>T c.7390A>T (p.Lys2464Ter) | dbSNP |
13 | g.32356479dup | CA645372939 | BRCA2 | c.7487dup (p.Lys2497GlufsTer?) c.7118dup (p.Lys2374GlufsTer?) c.52dup n.7487dup c.7391dup (p.Lys2465GlufsTer?) | ClinVar dbSNP |
13 | g.32356483_32356485del | CA025115 | BRCA2 | c.7491_7493del (p.Lys2498del) c.7122_7124del (p.Lys2375del) c.56_58del n.7491_7493del c.7395_7397del (p.Lys2466del) | ClinVar dbSNP gnomAD v4 |
13 | g.32356478_32356499dup | CA2580087467 | BRCA2 | c.7486_7507dup (p.Val2503GlufsTer?) c.7117_7138dup (p.Val2380GlufsTer?) c.51_72dup n.7486_7507dup c.7390_7411dup (p.Val2471GlufsTer?) | ClinVar |
13 | g.32356478_32356479insT | CA10586578 | BRCA2 | c.7486_7487insT (p.Lys2496IlefsTer?) c.7117_7118insT (p.Lys2373IlefsTer?) c.51_52insT n.7486_7487insT c.7390_7391insT (p.Lys2464IlefsTer?) | ClinVar dbSNP |
13 | g.32356479A= | CA2082814397 | BRCA2 | c.7487A= (p.Lys2496=) c.7118A= (p.Lys2373=) c.52A= n.7487A= c.7391A= (p.Lys2464=) | |
13 | g.32356479A>C | CA025113 | BRCA2 | c.7487A>C (p.Lys2496Thr) c.7118A>C (p.Lys2373Thr) c.52A>C n.7487A>C c.7391A>C (p.Lys2464Thr) | ClinVar dbSNP |
13 | g.32356479A>G | CA387743336 | BRCA2 | c.7487A>G (p.Lys2496Arg) c.7118A>G (p.Lys2373Arg) c.52A>G n.7487A>G c.7391A>G (p.Lys2464Arg) | |
13 | g.32356479A>T | CA387743335 | BRCA2 | c.7487A>T (p.Lys2496Met) c.7118A>T (p.Lys2373Met) c.52A>T n.7487A>T c.7391A>T (p.Lys2464Met) | dbSNP |
13 | g.32356480del | CA2499222290 | BRCA2 | c.7488del (p.Lys2497ArgfsTer27) c.7119del (p.Lys2374ArgfsTer27) c.53del n.7488del c.7392del (p.Lys2465ArgfsTer27) | ClinVar dbSNP |
13 | g.32356480G>A | CA483260377 | BRCA2 | c.7488G>A (p.Lys2496=) c.7119G>A (p.Lys2373=) c.53G>A n.7488G>A c.7392G>A (p.Lys2464=) | ClinVar dbSNP |
13 | g.32356480G>C | CA6941104 | BRCA2 | c.7488G>C (p.Lys2496Asn) c.7119G>C (p.Lys2373Asn) c.53G>C n.7488G>C c.7392G>C (p.Lys2464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356480G= | CA2082814412 | BRCA2 | c.7488G= (p.Lys2496=) c.7119G= (p.Lys2373=) c.53G= n.7488G= c.7392G= (p.Lys2464=) | |
13 | g.32356480G>T | CA387743340 | BRCA2 | c.7488G>T (p.Lys2496Asn) c.7119G>T (p.Lys2373Asn) c.53G>T n.7488G>T c.7392G>T (p.Lys2464Asn) | dbSNP |
13 | g.32356481A>C | CA387743341 | BRCA2 | c.7489A>C (p.Lys2497Gln) c.7120A>C (p.Lys2374Gln) c.54A>C n.7489A>C c.7393A>C (p.Lys2465Gln) | dbSNP |
13 | g.32356481A>G | CA387743342 | BRCA2 | c.7489A>G (p.Lys2497Glu) c.7120A>G (p.Lys2374Glu) c.54A>G n.7489A>G c.7393A>G (p.Lys2465Glu) | |
13 | g.32356481A>T | CA387743343 | BRCA2 | c.7489A>T (p.Lys2497Ter) c.7120A>T (p.Lys2374Ter) c.54A>T n.7489A>T c.7393A>T (p.Lys2465Ter) | |
13 | g.32356482dup | CA919242751 | BRCA2 | c.7490dup (p.Lys2498GlufsTer?) c.7121dup (p.Lys2375GlufsTer?) c.55dup n.7490dup c.7394dup (p.Lys2466GlufsTer?) | dbSNP |
13 | g.32356483_32356486del | CA2622571560 | BRCA2 | c.7491_7494del (p.Lys2497AsnfsTer26) c.7122_7125del (p.Lys2374AsnfsTer26) c.56_59del n.7491_7494del c.7395_7398del (p.Lys2465AsnfsTer26) | gnomAD v4 |
13 | g.32356482A= | CA2082814423 | BRCA2 | c.7490A= (p.Lys2497=) c.7121A= (p.Lys2374=) c.55A= n.7490A= c.7394A= (p.Lys2465=) | |
13 | g.32356482A>C | CA387743344 | BRCA2 | c.7490A>C (p.Lys2497Thr) c.7121A>C (p.Lys2374Thr) c.55A>C n.7490A>C c.7394A>C (p.Lys2465Thr) | ClinVar dbSNP |
13 | g.32356482A>G | CA387743345 | BRCA2 | c.7490A>G (p.Lys2497Arg) c.7121A>G (p.Lys2374Arg) c.55A>G n.7490A>G c.7394A>G (p.Lys2465Arg) | ClinVar dbSNP |
13 | g.32356482A>T | CA387743347 | BRCA2 | c.7490A>T (p.Lys2497Met) c.7121A>T (p.Lys2374Met) c.55A>T n.7490A>T c.7394A>T (p.Lys2465Met) | |
13 | g.32356483G>A | CA025116 | BRCA2 | c.7491G>A (p.Lys2497=) c.7122G>A (p.Lys2374=) c.56G>A n.7491G>A c.7395G>A (p.Lys2465=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356483G>C | CA387743353 | BRCA2 | c.7491G>C (p.Lys2497Asn) c.7122G>C (p.Lys2374Asn) c.56G>C n.7491G>C c.7395G>C (p.Lys2465Asn) | dbSNP |
13 | g.32356483G= | CA2082814433 | BRCA2 | c.7491G= (p.Lys2497=) c.7122G= (p.Lys2374=) c.56G= n.7491G= c.7395G= (p.Lys2465=) | |
13 | g.32356483G>T | CA387743351 | BRCA2 | c.7491G>T (p.Lys2497Asn) c.7122G>T (p.Lys2374Asn) c.56G>T n.7491G>T c.7395G>T (p.Lys2465Asn) | |
13 | g.32356484A>C | CA387743359 | BRCA2 | c.7492A>C (p.Lys2498Gln) c.7123A>C (p.Lys2375Gln) c.57A>C n.7492A>C c.7396A>C (p.Lys2466Gln) | |
13 | g.32356484A>G | CA387743360 | BRCA2 | c.7492A>G (p.Lys2498Glu) c.7123A>G (p.Lys2375Glu) c.57A>G n.7492A>G c.7396A>G (p.Lys2466Glu) | |
13 | g.32356484A>T | CA387743363 | BRCA2 | c.7492A>T (p.Lys2498Ter) c.7123A>T (p.Lys2375Ter) c.57A>T n.7492A>T c.7396A>T (p.Lys2466Ter) | ClinVar |
13 | g.32356485A= | CA2082814440 | BRCA2 | c.7493A= (p.Lys2498=) c.7124A= (p.Lys2375=) c.58A= n.7493A= c.7397A= (p.Lys2466=) | |
13 | g.32356485A>C | CA025117 | BRCA2 | c.7493A>C (p.Lys2498Thr) c.7124A>C (p.Lys2375Thr) c.58A>C n.7493A>C c.7397A>C (p.Lys2466Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356485A>G | CA387743368 | BRCA2 | c.7493A>G (p.Lys2498Arg) c.7124A>G (p.Lys2375Arg) c.58A>G n.7493A>G c.7397A>G (p.Lys2466Arg) | dbSNP |
13 | g.32356485A>T | CA387743366 | BRCA2 | c.7493A>T (p.Lys2498Ile) c.7124A>T (p.Lys2375Ile) c.58A>T n.7493A>T c.7397A>T (p.Lys2466Ile) | |
13 | g.32356486A= | CA2082814454 | BRCA2 | c.7494A= (p.Lys2498=) c.7125A= (p.Lys2375=) c.59A= n.7494A= c.7398A= (p.Lys2466=) | |
13 | g.32356486A>C | CA387743370 | BRCA2 | c.7494A>C (p.Lys2498Asn) c.7125A>C (p.Lys2375Asn) c.59A>C n.7494A>C c.7398A>C (p.Lys2466Asn) | |
13 | g.32356486A>G | CA483260378 | BRCA2 | c.7494A>G (p.Lys2498=) c.7125A>G (p.Lys2375=) c.59A>G n.7494A>G c.7398A>G (p.Lys2466=) | ClinVar dbSNP |
13 | g.32356486A>T | CA387743375 | BRCA2 | c.7494A>T (p.Lys2498Asn) c.7125A>T (p.Lys2375Asn) c.59A>T n.7494A>T c.7398A>T (p.Lys2466Asn) | dbSNP |
13 | g.32356487_32356488del | CA2697551777 | BRCA2 | c.7495_7496del (p.Gln2499LysfsTer?) c.7126_7127del (p.Gln2376LysfsTer?) c.60_61del n.7495_7496del c.7399_7400del (p.Gln2467LysfsTer?) | ClinVar |
13 | g.32356487del | CA2499222291 | BRCA2 | c.7495del (p.Gln2499LysfsTer25) c.7126del (p.Gln2376LysfsTer25) c.60del n.7495del c.7399del (p.Gln2467LysfsTer25) | ClinVar dbSNP |
13 | g.32356487C>A | CA387743376 | BRCA2 | c.7495C>A (p.Gln2499Lys) c.7126C>A (p.Gln2376Lys) c.60C>A n.7495C>A c.7399C>A (p.Gln2467Lys) | gnomAD v4 |
13 | g.32356487C= | CA2082814467 | BRCA2 | c.7495C= (p.Gln2499=) c.7126C= (p.Gln2376=) c.60C= n.7495C= c.7399C= (p.Gln2467=) | |
13 | g.32356487C>G | CA10579739 | BRCA2 | c.7495C>G (p.Gln2499Glu) c.7126C>G (p.Gln2376Glu) c.60C>G n.7495C>G c.7399C>G (p.Gln2467Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32356487C>T | CA10589431 | BRCA2 | c.7495C>T (p.Gln2499Ter) c.7126C>T (p.Gln2376Ter) c.60C>T n.7495C>T c.7399C>T (p.Gln2467Ter) | ClinVar dbSNP |
13 | g.32356487_32356488delinsCA | CA2082814464 | BRCA2 | c.7495_7496delinsCA (p.Gln2499=) c.7126_7127delinsCA (p.Gln2376=) c.60_61delinsCA n.7495_7496delinsCA c.7399_7400delinsCA (p.Gln2467=) | |
13 | g.32356488A>C | CA387743382 | BRCA2 | c.7496A>C (p.Gln2499Pro) c.7127A>C (p.Gln2376Pro) c.61A>C n.7496A>C c.7400A>C (p.Gln2467Pro) | |
13 | g.32356488A>G | CA387743383 | BRCA2 | c.7496A>G (p.Gln2499Arg) c.7127A>G (p.Gln2376Arg) c.61A>G n.7496A>G c.7400A>G (p.Gln2467Arg) | |
13 | g.32356488A>T | CA387743384 | BRCA2 | c.7496A>T (p.Gln2499Leu) c.7127A>T (p.Gln2376Leu) c.61A>T n.7496A>T c.7400A>T (p.Gln2467Leu) | dbSNP |
13 | g.32356490del | CA919242752 | BRCA2 | c.7498del (p.Arg2500GlyfsTer24) c.7129del (p.Arg2377GlyfsTer24) c.63del n.7498del c.7402del (p.Arg2468GlyfsTer24) | dbSNP |
13 | g.32356489A= | CA2082814478 | BRCA2 | c.7497A= (p.Gln2499=) c.7128A= (p.Gln2376=) c.62A= n.7497A= c.7401A= (p.Gln2467=) | |
13 | g.32356489A>C | CA387743386 | BRCA2 | c.7497A>C (p.Gln2499His) c.7128A>C (p.Gln2376His) c.62A>C n.7497A>C c.7401A>C (p.Gln2467His) | |
13 | g.32356489A>G | CA483260379 | BRCA2 | c.7497A>G (p.Gln2499=) c.7128A>G (p.Gln2376=) c.62A>G n.7497A>G c.7401A>G (p.Gln2467=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356489A>T | CA387743387 | BRCA2 | c.7497A>T (p.Gln2499His) c.7128A>T (p.Gln2376His) c.62A>T n.7497A>T c.7401A>T (p.Gln2467His) | dbSNP |
13 | g.32356490A>C | CA483260380 | BRCA2 | c.7498A>C (p.Arg2500=) c.7129A>C (p.Arg2377=) c.63A>C n.7498A>C c.7402A>C (p.Arg2468=) | |
13 | g.32356490A>G | CA387743389 | BRCA2 | c.7498A>G (p.Arg2500Gly) c.7129A>G (p.Arg2377Gly) c.63A>G n.7498A>G c.7402A>G (p.Arg2468Gly) | dbSNP |
13 | g.32356490A>T | CA387743391 | BRCA2 | c.7498A>T (p.Arg2500Trp) c.7129A>T (p.Arg2377Trp) c.63A>T n.7498A>T c.7402A>T (p.Arg2468Trp) | dbSNP |
13 | g.32356490_32356491delinsAG | CA2082814482 | BRCA2 | c.7498_7499delinsAG (p.Arg2500=) c.7129_7130delinsAG (p.Arg2377=) c.63_64delinsAG n.7498_7499delinsAG c.7402_7403delinsAG (p.Arg2468=) | |
13 | g.32356491G>A | CA025118 | BRCA2 | c.7499G>A (p.Arg2500Lys) c.7130G>A (p.Arg2377Lys) c.64G>A n.7499G>A c.7403G>A (p.Arg2468Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32356491G>C | CA025119 | BRCA2 | c.7499G>C (p.Arg2500Thr) c.7130G>C (p.Arg2377Thr) c.64G>C n.7499G>C c.7403G>C (p.Arg2468Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356491G= | CA2082814490 | BRCA2 | c.7499G= (p.Arg2500=) c.7130G= (p.Arg2377=) c.64G= n.7499G= c.7403G= (p.Arg2468=) | |
13 | g.32356491G>T | CA387743393 | BRCA2 | c.7499G>T (p.Arg2500Met) c.7130G>T (p.Arg2377Met) c.64G>T n.7499G>T c.7403G>T (p.Arg2468Met) | dbSNP |
13 | g.32356492del | CA913188525 | BRCA2 | c.7500del (p.Arg2500SerfsTer24) c.7131del (p.Arg2377SerfsTer24) c.65del n.7500del c.7404del (p.Arg2468SerfsTer24) | ClinVar dbSNP |
13 | g.32356492G>A | CA483260381 | BRCA2 | c.7500G>A (p.Arg2500=) c.7131G>A (p.Arg2377=) c.65G>A n.7500G>A c.7404G>A (p.Arg2468=) | ClinVar dbSNP |
13 | g.32356492G>C | CA387743402 | BRCA2 | c.7500G>C (p.Arg2500Ser) c.7131G>C (p.Arg2377Ser) c.65G>C n.7500G>C c.7404G>C (p.Arg2468Ser) | ClinVar dbSNP |
13 | g.32356492G= | CA2082814496 | BRCA2 | c.7500G= (p.Arg2500=) c.7131G= (p.Arg2377=) c.65G= n.7500G= c.7404G= (p.Arg2468=) | |
13 | g.32356492G>T | CA387743403 | BRCA2 | c.7500G>T (p.Arg2500Ser) c.7131G>T (p.Arg2377Ser) c.65G>T n.7500G>T c.7404G>T (p.Arg2468Ser) | |
13 | g.32356492_32356493del | CA2695199716 | BRCA2 | c.7500_7501del (p.Gln2501ThrfsTer?) c.7131_7132del (p.Gln2378ThrfsTer?) c.65_66del n.7500_7501del c.7404_7405del (p.Gln2469ThrfsTer?) | ClinVar |
13 | g.32356494_32356498dup | CA2837995281 | BRCA2 | c.7502_7506dup (p.Val2503AsnfsTer23) c.7133_7137dup (p.Val2380AsnfsTer23) c.67_71dup n.7502_7506dup c.7406_7410dup (p.Val2471AsnfsTer23) | |
13 | g.32356493C>A | CA387743406 | BRCA2 | c.7501C>A (p.Gln2501Lys) c.7132C>A (p.Gln2378Lys) c.66C>A n.7501C>A c.7405C>A (p.Gln2469Lys) | dbSNP |
13 | g.32356493C= | CA2082814507 | BRCA2 | c.7501C= (p.Gln2501=) c.7132C= (p.Gln2378=) c.66C= n.7501C= c.7405C= (p.Gln2469=) | |
13 | g.32356493C>G | CA387743408 | BRCA2 | c.7501C>G (p.Gln2501Glu) c.7132C>G (p.Gln2378Glu) c.66C>G n.7501C>G c.7405C>G (p.Gln2469Glu) | dbSNP |
13 | g.32356493C>T | CA10589432 | BRCA2 | c.7501C>T (p.Gln2501Ter) c.7132C>T (p.Gln2378Ter) c.66C>T n.7501C>T c.7405C>T (p.Gln2469Ter) | ClinVar dbSNP |
13 | g.32356494A= | CA2082814513 | BRCA2 | c.7502A= (p.Gln2501=) c.7133A= (p.Gln2378=) c.67A= n.7502A= c.7406A= (p.Gln2469=) | |
13 | g.32356494A>C | CA387743419 | BRCA2 | c.7502A>C (p.Gln2501Pro) c.7133A>C (p.Gln2378Pro) c.67A>C n.7502A>C c.7406A>C (p.Gln2469Pro) | |
13 | g.32356494A>G | CA387743415 | BRCA2 | c.7502A>G (p.Gln2501Arg) c.7133A>G (p.Gln2378Arg) c.67A>G n.7502A>G c.7406A>G (p.Gln2469Arg) | ClinVar dbSNP |
13 | g.32356494A>T | CA387743411 | BRCA2 | c.7502A>T (p.Gln2501Leu) c.7133A>T (p.Gln2378Leu) c.67A>T n.7502A>T c.7406A>T (p.Gln2469Leu) | |
13 | g.32356494_32356498delinsAACGC | CA2082814511 | BRCA2 | c.7502_7506delinsAACGC (p.Gln2501=) c.7133_7137delinsAACGC (p.Gln2378=) c.67_71delinsAACGC n.7502_7506delinsAACGC c.7406_7410delinsAACGC (p.Gln2469=) | |
13 | g.32356495A= | CA2082814521 | BRCA2 | c.7503A= (p.Gln2501=) c.7134A= (p.Gln2378=) c.68A= n.7503A= c.7407A= (p.Gln2469=) | |
13 | g.32356495A>C | CA387743422 | BRCA2 | c.7503A>C (p.Gln2501His) c.7134A>C (p.Gln2378His) c.68A>C n.7503A>C c.7407A>C (p.Gln2469His) | dbSNP |
13 | g.32356495A>G | CA16606811 | BRCA2 | c.7503A>G (p.Gln2501=) c.7134A>G (p.Gln2378=) c.68A>G n.7503A>G c.7407A>G (p.Gln2469=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356495A>T | CA387743424 | BRCA2 | c.7503A>T (p.Gln2501His) c.7134A>T (p.Gln2378His) c.68A>T n.7503A>T c.7407A>T (p.Gln2469His) | dbSNP gnomAD v4 |
13 | g.32356495_32356498del | CA10589433 | BRCA2 | c.7503_7506del (p.Arg2502SerfsTer21) c.7134_7137del (p.Arg2379SerfsTer21) c.68_71del n.7503_7506del c.7407_7410del (p.Arg2470SerfsTer21) | ClinVar dbSNP |
13 | g.32356495_32356503delinsACGCGTCTT | CA2082814528 | BRCA2 | c.7503_7511delinsACGCGTCTT (p.Gln2501=) c.7134_7142delinsACGCGTCTT (p.Gln2378=) c.68_76delinsACGCGTCTT n.7503_7511delinsACGCGTCTT c.7407_7415delinsACGCGTCTT (p.Gln2469=) | |
13 | g.32356496C>A | CA387743431 | BRCA2 | c.7504C>A (p.Arg2502Ser) c.7135C>A (p.Arg2379Ser) c.69C>A n.7504C>A c.7408C>A (p.Arg2470Ser) | ClinVar dbSNP |
13 | g.32356496C= | CA2082814548 | BRCA2 | c.7504C= (p.Arg2502=) c.7135C= (p.Arg2379=) c.69C= n.7504C= c.7408C= (p.Arg2470=) | |
13 | g.32356496C>G | CA387743435 | BRCA2 | c.7504C>G (p.Arg2502Gly) c.7135C>G (p.Arg2379Gly) c.69C>G n.7504C>G c.7408C>G (p.Arg2470Gly) | dbSNP |
13 | g.32356496C>T | CA025120 | BRCA2 | c.7504C>T (p.Arg2502Cys) c.7135C>T (p.Arg2379Cys) c.69C>T n.7504C>T c.7408C>T (p.Arg2470Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356496_32356503del | CA658683850 | BRCA2 | c.7504_7511del (p.Arg2502SerfsTer?) c.7135_7142del (p.Arg2379SerfsTer?) c.69_76del n.7504_7511del c.7408_7415del (p.Arg2470SerfsTer?) | ClinVar dbSNP |
13 | g.32356497G>A | CA025121 | BRCA2 | c.7505G>A (p.Arg2502His) c.7136G>A (p.Arg2379His) c.70G>A n.7505G>A c.7409G>A (p.Arg2470His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356497G>C | CA025122 | BRCA2 | c.7505G>C (p.Arg2502Pro) c.7136G>C (p.Arg2379Pro) c.70G>C n.7505G>C c.7409G>C (p.Arg2470Pro) | ClinVar dbSNP |
13 | g.32356497G= | CA2082814563 | BRCA2 | c.7505G= (p.Arg2502=) c.7136G= (p.Arg2379=) c.70G= n.7505G= c.7409G= (p.Arg2470=) | |
13 | g.32356497G>T | CA10579740 | BRCA2 | c.7505G>T (p.Arg2502Leu) c.7136G>T (p.Arg2379Leu) c.70G>T n.7505G>T c.7409G>T (p.Arg2470Leu) | ClinVar dbSNP |
13 | g.32356497dup | CA2695217910 | BRCA2 | c.7505dup (p.Val2503ArgfsTer?) c.7136dup (p.Val2380ArgfsTer?) c.70dup n.7505dup c.7409dup (p.Val2471ArgfsTer?) | |
13 | g.32356498del | CA2499222293 | BRCA2 | c.7506del (p.Val2503SerfsTer21) c.7137del (p.Val2380SerfsTer21) c.71del n.7506del c.7410del (p.Val2471SerfsTer21) | |
13 | g.32356498C>A | CA483260382 | BRCA2 | c.7506C>A (p.Arg2502=) c.7137C>A (p.Arg2379=) c.71C>A n.7506C>A c.7410C>A (p.Arg2470=) | ClinVar dbSNP |
13 | g.32356498C= | CA2082814579 | BRCA2 | c.7506C= (p.Arg2502=) c.7137C= (p.Arg2379=) c.71C= n.7506C= c.7410C= (p.Arg2470=) | |
13 | g.32356498C>G | CA10579741 | BRCA2 | c.7506C>G (p.Arg2502=) c.7137C>G (p.Arg2379=) c.71C>G n.7506C>G c.7410C>G (p.Arg2470=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356498C>T | CA025123 | BRCA2 | c.7506C>T (p.Arg2502=) c.7137C>T (p.Arg2379=) c.71C>T n.7506C>T c.7410C>T (p.Arg2470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356498dup | CA2499222292 | BRCA2 | c.7506dup (p.Val2503ArgfsTer?) c.7137dup (p.Val2380ArgfsTer?) c.71dup n.7506dup c.7410dup (p.Val2471ArgfsTer?) | |
13 | g.32356498_32356499insTCTT | CA2573053822 | BRCA2 | c.7506_7507insTCTT (p.Val2503SerfsTer?) c.7137_7138insTCTT (p.Val2380SerfsTer?) c.71_72insTCTT n.7506_7507insTCTT c.7410_7411insTCTT (p.Val2471SerfsTer?) | ClinVar dbSNP |
13 | g.32356499del | CA2825002140 | BRCA2 | c.7507del (p.Val2503SerfsTer21) c.7138del (p.Val2380SerfsTer21) c.72del n.7507del c.7411del (p.Val2471SerfsTer21) | ClinVar |
13 | g.32356499G>A | CA025124 | BRCA2 | c.7507G>A (p.Val2503Ile) c.7138G>A (p.Val2380Ile) c.72G>A n.7507G>A c.7411G>A (p.Val2471Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356499G>C | CA387743445 | BRCA2 | c.7507G>C (p.Val2503Leu) c.7138G>C (p.Val2380Leu) c.72G>C n.7507G>C c.7411G>C (p.Val2471Leu) | dbSNP |
13 | g.32356499G= | CA2082814586 | BRCA2 | c.7507G= (p.Val2503=) c.7138G= (p.Val2380=) c.72G= n.7507G= c.7411G= (p.Val2471=) | |
13 | g.32356499G>T | CA387743447 | BRCA2 | c.7507G>T (p.Val2503Phe) c.7138G>T (p.Val2380Phe) c.72G>T n.7507G>T c.7411G>T (p.Val2471Phe) | COSMIC COSMIC |
13 | g.32356499_32356513delinsGTCTTTCCACAGCCA | CA2082814587 | BRCA2 | c.7507_7521delinsGTCTTTCCACAGCCA (p.Val2503=) c.7138_7152delinsGTCTTTCCACAGCCA (p.Val2380=) c.72_86delinsGTCTTTCCACAGCCA n.7507_7521delinsGTCTTTCCACAGCCA c.7411_7425delinsGTCTTTCCACAGCCA (p.Val2471=) | |
13 | g.32356500T>A | CA025125 | BRCA2 | c.7508T>A (p.Val2503Asp) c.7139T>A (p.Val2380Asp) c.73T>A n.7508T>A c.7412T>A (p.Val2471Asp) | ClinVar dbSNP |
13 | g.32356500T>C | CA387743450 | BRCA2 | c.7508T>C (p.Val2503Ala) c.7139T>C (p.Val2380Ala) c.73T>C n.7508T>C c.7412T>C (p.Val2471Ala) | dbSNP |
13 | g.32356500T>G | CA387743453 | BRCA2 | c.7508T>G (p.Val2503Gly) c.7139T>G (p.Val2380Gly) c.73T>G n.7508T>G c.7412T>G (p.Val2471Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32356500T= | CA2082814604 | BRCA2 | c.7508T= (p.Val2503=) c.7139T= (p.Val2380=) c.73T= n.7508T= c.7412T= (p.Val2471=) | |
13 | g.32356502_32356505dup | CA891844184 | BRCA2 | c.7510_7513dup (p.Pro2505LeufsTer?) c.7141_7144dup (p.Pro2382LeufsTer?) c.75_78dup n.7510_7513dup c.7414_7417dup (p.Pro2473LeufsTer?) | ClinVar dbSNP |
13 | g.32356500_32356513delinsG | CA10585934 | BRCA2 | c.7508_7521delinsG (p.Val2503GlyfsTer17) c.7139_7152delinsG (p.Val2380GlyfsTer17) c.73_86delinsG n.7508_7521delinsG c.7412_7425delinsG (p.Val2471GlyfsTer17) | ClinVar dbSNP |
13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
13 | g.32356501C>A | CA483260383 | BRCA2 | c.7509C>A (p.Val2503=) c.7140C>A (p.Val2380=) c.74C>A n.7509C>A c.7413C>A (p.Val2471=) | |
13 | g.32356501C= | CA2082814626 | BRCA2 | c.7509C= (p.Val2503=) c.7140C= (p.Val2380=) c.74C= n.7509C= c.7413C= (p.Val2471=) | |
13 | g.32356501C>G | CA025126 | BRCA2 | c.7509C>G (p.Val2503=) c.7140C>G (p.Val2380=) c.74C>G n.7509C>G c.7413C>G (p.Val2471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356501C>T | CA10575927 | BRCA2 | c.7509C>T (p.Val2503=) c.7140C>T (p.Val2380=) c.74C>T n.7509C>T c.7413C>T (p.Val2471=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356502T>A | CA387743465 | BRCA2 | c.7510T>A (p.Phe2504Ile) c.7141T>A (p.Phe2381Ile) c.75T>A n.7510T>A c.7414T>A (p.Phe2472Ile) | dbSNP |
13 | g.32356502T>C | CA387743463 | BRCA2 | c.7510T>C (p.Phe2504Leu) c.7141T>C (p.Phe2381Leu) c.75T>C n.7510T>C c.7414T>C (p.Phe2472Leu) | |
13 | g.32356502T>G | CA387743460 | BRCA2 | c.7510T>G (p.Phe2504Val) c.7141T>G (p.Phe2381Val) c.75T>G n.7510T>G c.7414T>G (p.Phe2472Val) | ClinVar dbSNP |
13 | g.32356502T= | CA2082814636 | BRCA2 | c.7510T= (p.Phe2504=) c.7141T= (p.Phe2381=) c.75T= n.7510T= c.7414T= (p.Phe2472=) | |
13 | g.32356504del | CA2837994582 | BRCA2 | c.7512del (p.Pro2505HisfsTer19) c.7143del (p.Pro2382HisfsTer19) c.77del n.7512del c.7416del (p.Pro2473HisfsTer19) | |
13 | g.32356503T>A | CA387743471 | BRCA2 | c.7511T>A (p.Phe2504Tyr) c.7142T>A (p.Phe2381Tyr) c.76T>A n.7511T>A c.7415T>A (p.Phe2472Tyr) | |
13 | g.32356503T>C | CA387743469 | BRCA2 | c.7511T>C (p.Phe2504Ser) c.7142T>C (p.Phe2381Ser) c.76T>C n.7511T>C c.7415T>C (p.Phe2472Ser) | |
13 | g.32356503T>G | CA387743473 | BRCA2 | c.7511T>G (p.Phe2504Cys) c.7142T>G (p.Phe2381Cys) c.76T>G n.7511T>G c.7415T>G (p.Phe2472Cys) | |
13 | g.32356504T>A | CA387743477 | BRCA2 | c.7512T>A (p.Phe2504Leu) c.7143T>A (p.Phe2381Leu) c.77T>A n.7512T>A c.7416T>A (p.Phe2472Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356504T>C | CA483260384 | BRCA2 | c.7512T>C (p.Phe2504=) c.7143T>C (p.Phe2381=) c.77T>C n.7512T>C c.7416T>C (p.Phe2472=) | |
13 | g.32356504T>G | CA025128 | BRCA2 | c.7512T>G (p.Phe2504Leu) c.7143T>G (p.Phe2381Leu) c.77T>G n.7512T>G c.7416T>G (p.Phe2472Leu) | ClinVar dbSNP |
13 | g.32356504T= | CA2082814642 | BRCA2 | c.7512T= (p.Phe2504=) c.7143T= (p.Phe2381=) c.77T= n.7512T= c.7416T= (p.Phe2472=) | |
13 | g.32356505C>A | CA387743488 | BRCA2 | c.7513C>A (p.Pro2505Thr) c.7144C>A (p.Pro2382Thr) c.78C>A n.7513C>A c.7417C>A (p.Pro2473Thr) | dbSNP |
13 | g.32356505C>G | CA387743491 | BRCA2 | c.7513C>G (p.Pro2505Ala) c.7144C>G (p.Pro2382Ala) c.78C>G n.7513C>G c.7417C>G (p.Pro2473Ala) | ClinVar dbSNP |
13 | g.32356505C>T | CA387743494 | BRCA2 | c.7513C>T (p.Pro2505Ser) c.7144C>T (p.Pro2382Ser) c.78C>T n.7513C>T c.7417C>T (p.Pro2473Ser) | ClinVar dbSNP |
13 | g.32356506C>A | CA387743495 | BRCA2 | c.7514C>A (p.Pro2505Gln) c.7145C>A (p.Pro2382Gln) c.79C>A n.7514C>A c.7418C>A (p.Pro2473Gln) | ClinVar |
13 | g.32356506C= | CA2082814644 | BRCA2 | c.7514C= (p.Pro2505=) c.7145C= (p.Pro2382=) c.79C= n.7514C= c.7418C= (p.Pro2473=) | |
13 | g.32356506C>G | CA387743498 | BRCA2 | c.7514C>G (p.Pro2505Arg) c.7145C>G (p.Pro2382Arg) c.79C>G n.7514C>G c.7418C>G (p.Pro2473Arg) | dbSNP |
13 | g.32356506C>T | CA247469878 | BRCA2 | c.7514C>T (p.Pro2505Leu) c.7145C>T (p.Pro2382Leu) c.79C>T n.7514C>T c.7418C>T (p.Pro2473Leu) | ClinVar dbSNP |
13 | g.32356507A= | CA2082814650 | BRCA2 | c.7515A= (p.Pro2505=) c.7146A= (p.Pro2382=) c.80A= n.7515A= c.7419A= (p.Pro2473=) | |
13 | g.32356507A>C | CA483260385 | BRCA2 | c.7515A>C (p.Pro2505=) c.7146A>C (p.Pro2382=) c.80A>C n.7515A>C c.7419A>C (p.Pro2473=) | dbSNP |
13 | g.32356507A>G | CA247469887 | BRCA2 | c.7515A>G (p.Pro2505=) c.7146A>G (p.Pro2382=) c.80A>G n.7515A>G c.7419A>G (p.Pro2473=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356507A>T | CA483260386 | BRCA2 | c.7515A>T (p.Pro2505=) c.7146A>T (p.Pro2382=) c.80A>T n.7515A>T c.7419A>T (p.Pro2473=) | dbSNP |
13 | g.32356508C>A | CA387743502 | BRCA2 | c.7516C>A (p.Gln2506Lys) c.7147C>A (p.Gln2383Lys) c.81C>A n.7516C>A c.7420C>A (p.Gln2474Lys) | |
13 | g.32356508C= | CA2082814658 | BRCA2 | c.7516C= (p.Gln2506=) c.7147C= (p.Gln2383=) c.81C= n.7516C= c.7420C= (p.Gln2474=) | |
13 | g.32356508C>G | CA387743504 | BRCA2 | c.7516C>G (p.Gln2506Glu) c.7147C>G (p.Gln2383Glu) c.81C>G n.7516C>G c.7420C>G (p.Gln2474Glu) | ClinVar dbSNP |
13 | g.32356508C>T | CA10579742 | BRCA2 | c.7516C>T (p.Gln2506Ter) c.7147C>T (p.Gln2383Ter) c.81C>T n.7516C>T c.7420C>T (p.Gln2474Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356509A>C | CA387743513 | BRCA2 | c.7517A>C (p.Gln2506Pro) c.7148A>C (p.Gln2383Pro) c.82A>C n.7517A>C c.7421A>C (p.Gln2474Pro) | |
13 | g.32356509A>G | CA387743511 | BRCA2 | c.7517A>G (p.Gln2506Arg) c.7148A>G (p.Gln2383Arg) c.82A>G n.7517A>G c.7421A>G (p.Gln2474Arg) | ClinVar dbSNP |
13 | g.32356509A>T | CA387743508 | BRCA2 | c.7517A>T (p.Gln2506Leu) c.7148A>T (p.Gln2383Leu) c.82A>T n.7517A>T c.7421A>T (p.Gln2474Leu) | dbSNP |
13 | g.32356509dup | CA10589434 | BRCA2 | c.7517dup (p.Pro2507AlafsTer?) c.7148dup (p.Pro2384AlafsTer?) c.82dup n.7517dup c.7421dup (p.Pro2475AlafsTer?) | ClinVar dbSNP |
13 | g.32356509_32356510delinsAG | CA2082814675 | BRCA2 | c.7517_7518delinsAG (p.Gln2506=) c.7148_7149delinsAG (p.Gln2383=) c.82_83delinsAG n.7517_7518delinsAG c.7421_7422delinsAG (p.Gln2474=) | |
13 | g.32356510del | CA10589435 | BRCA2 | c.7518del (p.Gln2506HisfsTer18) c.7149del (p.Gln2383HisfsTer18) c.83del n.7518del c.7422del (p.Gln2474HisfsTer18) | ClinVar dbSNP |
13 | g.32356510G>A | CA483260387 | BRCA2 | c.7518G>A (p.Gln2506=) c.7149G>A (p.Gln2383=) c.83G>A n.7518G>A c.7422G>A (p.Gln2474=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356510G>C | CA387743517 | BRCA2 | c.7518G>C (p.Gln2506His) c.7149G>C (p.Gln2383His) c.83G>C n.7518G>C c.7422G>C (p.Gln2474His) | dbSNP |
13 | g.32356510G= | CA2082814689 | BRCA2 | c.7518G= (p.Gln2506=) c.7149G= (p.Gln2383=) c.83G= n.7518G= c.7422G= (p.Gln2474=) | |
13 | g.32356510G>T | CA6941105 | BRCA2 | c.7518G>T (p.Gln2506His) c.7149G>T (p.Gln2383His) c.83G>T n.7518G>T c.7422G>T (p.Gln2474His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356511C>A | CA387743522 | BRCA2 | c.7519C>A (p.Pro2507Thr) c.7150C>A (p.Pro2384Thr) c.84C>A n.7519C>A c.7423C>A (p.Pro2475Thr) | dbSNP |
13 | g.32356511C= | CA2082814713 | BRCA2 | c.7519C= (p.Pro2507=) c.7150C= (p.Pro2384=) c.84C= n.7519C= c.7423C= (p.Pro2475=) | |
13 | g.32356511C>G | CA10579743 | BRCA2 | c.7519C>G (p.Pro2507Ala) c.7150C>G (p.Pro2384Ala) c.84C>G n.7519C>G c.7423C>G (p.Pro2475Ala) | ClinVar dbSNP |
13 | g.32356511C>T | CA387743524 | BRCA2 | c.7519C>T (p.Pro2507Ser) c.7150C>T (p.Pro2384Ser) c.84C>T n.7519C>T c.7423C>T (p.Pro2475Ser) | dbSNP |
13 | g.32356512C>A | CA387743526 | BRCA2 | c.7520C>A (p.Pro2507Gln) c.7151C>A (p.Pro2384Gln) c.85C>A n.7520C>A c.7424C>A (p.Pro2475Gln) | gnomAD v4 |
13 | g.32356512C= | CA2082814719 | BRCA2 | c.7520C= (p.Pro2507=) c.7151C= (p.Pro2384=) c.85C= n.7520C= c.7424C= (p.Pro2475=) | |
13 | g.32356512C>G | CA387743528 | BRCA2 | c.7520C>G (p.Pro2507Arg) c.7151C>G (p.Pro2384Arg) c.85C>G n.7520C>G c.7424C>G (p.Pro2475Arg) | dbSNP |
13 | g.32356512C>T | CA10579744 | BRCA2 | c.7520C>T (p.Pro2507Leu) c.7151C>T (p.Pro2384Leu) c.85C>T n.7520C>T c.7424C>T (p.Pro2475Leu) | ClinVar dbSNP |
13 | g.32356515_32356518del | CA2837994583 | BRCA2 | c.7523_7526del (p.Gly2508ValfsTer15) c.7154_7157del (p.Gly2385ValfsTer15) c.88_91del n.7523_7526del c.7427_7430del (p.Gly2476ValfsTer15) | |
13 | g.32356513A= | CA2082814727 | BRCA2 | c.7521A= (p.Pro2507=) c.7152A= (p.Pro2384=) c.86A= n.7521A= c.7425A= (p.Pro2475=) | |
13 | g.32356513A>C | CA483260388 | BRCA2 | c.7521A>C (p.Pro2507=) c.7152A>C (p.Pro2384=) c.86A>C n.7521A>C c.7425A>C (p.Pro2475=) | ClinVar |
13 | g.32356513A>G | CA025129 | BRCA2 | c.7521A>G (p.Pro2507=) c.7152A>G (p.Pro2384=) c.86A>G n.7521A>G c.7425A>G (p.Pro2475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356513A>T | CA483260389 | BRCA2 | c.7521A>T (p.Pro2507=) c.7152A>T (p.Pro2384=) c.86A>T n.7521A>T c.7425A>T (p.Pro2475=) | ClinVar dbSNP |
13 | g.32356514G>A | CA025130 | BRCA2 | c.7522G>A (p.Gly2508Ser) c.7153G>A (p.Gly2385Ser) c.87G>A n.7522G>A c.7426G>A (p.Gly2476Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356514G>C | CA387743535 | BRCA2 | c.7522G>C (p.Gly2508Arg) c.7153G>C (p.Gly2385Arg) c.87G>C n.7522G>C c.7426G>C (p.Gly2476Arg) | ClinVar dbSNP |
13 | g.32356514G= | CA2082814733 | BRCA2 | c.7522G= (p.Gly2508=) c.7153G= (p.Gly2385=) c.87G= n.7522G= c.7426G= (p.Gly2476=) | |
13 | g.32356514G>T | CA387743536 | BRCA2 | c.7522G>T (p.Gly2508Cys) c.7153G>T (p.Gly2385Cys) c.87G>T n.7522G>T c.7426G>T (p.Gly2476Cys) | dbSNP |
13 | g.32356515G>A | CA025131 | BRCA2 | c.7523G>A (p.Gly2508Asp) c.7154G>A (p.Gly2385Asp) c.88G>A n.7523G>A c.7427G>A (p.Gly2476Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32356515G>C | CA387743543 | BRCA2 | c.7523G>C (p.Gly2508Ala) c.7154G>C (p.Gly2385Ala) c.88G>C n.7523G>C c.7427G>C (p.Gly2476Ala) | dbSNP |
13 | g.32356515G= | CA2082814748 | BRCA2 | c.7523G= (p.Gly2508=) c.7154G= (p.Gly2385=) c.88G= n.7523G= c.7427G= (p.Gly2476=) | |
13 | g.32356515G>T | CA387743540 | BRCA2 | c.7523G>T (p.Gly2508Val) c.7154G>T (p.Gly2385Val) c.88G>T n.7523G>T c.7427G>T (p.Gly2476Val) | |
13 | g.32356516C>A | CA483260390 | BRCA2 | c.7524C>A (p.Gly2508=) c.7155C>A (p.Gly2385=) c.89C>A n.7524C>A c.7428C>A (p.Gly2476=) | ClinVar dbSNP |
13 | g.32356516C= | CA2082814757 | BRCA2 | c.7524C= (p.Gly2508=) c.7155C= (p.Gly2385=) c.89C= n.7524C= c.7428C= (p.Gly2476=) | |
13 | g.32356516C>G | CA483260391 | BRCA2 | c.7524C>G (p.Gly2508=) c.7155C>G (p.Gly2385=) c.89C>G n.7524C>G c.7428C>G (p.Gly2476=) | dbSNP |
13 | g.32356516C>T | CA483260392 | BRCA2 | c.7524C>T (p.Gly2508=) c.7155C>T (p.Gly2385=) c.89C>T n.7524C>T c.7428C>T (p.Gly2476=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356516_32356517insT | CA658823747 | BRCA2 | c.7524_7525insT (p.Ser2509Ter) c.7155_7156insT (p.Ser2386Ter) c.89_90insT n.7524_7525insT c.7428_7429insT (p.Ser2477Ter) | ClinVar dbSNP |
13 | g.32356517A= | CA2082814803 | BRCA2 | c.7525A= (p.Ser2509=) c.7156A= (p.Ser2386=) c.90A= n.7525A= c.7429A= (p.Ser2477=) | |
13 | g.32356517A>C | CA387743558 | BRCA2 | c.7525A>C (p.Ser2509Arg) c.7156A>C (p.Ser2386Arg) c.90A>C n.7525A>C c.7429A>C (p.Ser2477Arg) | ClinVar dbSNP |
13 | g.32356517A>G | CA387743547 | BRCA2 | c.7525A>G (p.Ser2509Gly) c.7156A>G (p.Ser2386Gly) c.90A>G n.7525A>G c.7429A>G (p.Ser2477Gly) | ClinVar dbSNP |
13 | g.32356517A>T | CA387743550 | BRCA2 | c.7525A>T (p.Ser2509Cys) c.7156A>T (p.Ser2386Cys) c.90A>T n.7525A>T c.7429A>T (p.Ser2477Cys) | dbSNP |
13 | g.32356517dup | CA025132 | BRCA2 | c.7525dup (p.Ser2509LysfsTer30) c.7156dup (p.Ser2386LysfsTer30) c.90dup n.7525dup c.7429dup (p.Ser2477LysfsTer30) | ClinVar dbSNP |
13 | g.32356517_32356518delinsGACT | CA2695199685 | BRCA2 | c.7525_7526delinsGACT (p.Ser2509AspfsTer16) c.7156_7157delinsGACT (p.Ser2386AspfsTer16) c.90_91delinsGACT n.7525_7526delinsGACT c.7429_7430delinsGACT (p.Ser2477AspfsTer16) | ClinVar |
13 | g.32356517_32356518insT | CA025133 | BRCA2 | c.7525_7526insT (p.Ser2509MetfsTer30) c.7156_7157insT (p.Ser2386MetfsTer30) c.90_91insT n.7525_7526insT c.7429_7430insT (p.Ser2477MetfsTer30) | ClinVar dbSNP |
13 | g.32356518G>A | CA387743561 | BRCA2 | c.7526G>A (p.Ser2509Asn) c.7157G>A (p.Ser2386Asn) c.91G>A n.7526G>A c.7430G>A (p.Ser2477Asn) | ClinVar dbSNP |
13 | g.32356518G>C | CA387743563 | BRCA2 | c.7526G>C (p.Ser2509Thr) c.7157G>C (p.Ser2386Thr) c.91G>C n.7526G>C c.7430G>C (p.Ser2477Thr) | ClinVar dbSNP |
13 | g.32356518G= | CA2082814820 | BRCA2 | c.7526G= (p.Ser2509=) c.7157G= (p.Ser2386=) c.91G= n.7526G= c.7430G= (p.Ser2477=) | |
13 | g.32356518G>T | CA387743568 | BRCA2 | c.7526G>T (p.Ser2509Ile) c.7157G>T (p.Ser2386Ile) c.91G>T n.7526G>T c.7430G>T (p.Ser2477Ile) | dbSNP |
13 | g.32356520_32356523dup | CA2580087473 | BRCA2 | c.7528_7531dup (p.Tyr2511SerfsTer29) c.7159_7162dup (p.Tyr2388SerfsTer29) c.93_96dup n.7528_7531dup c.7432_7435dup (p.Tyr2479SerfsTer29) | ClinVar |
13 | g.32356519T>A | CA387743569 | BRCA2 | c.7527T>A (p.Ser2509Arg) c.7158T>A (p.Ser2386Arg) c.92T>A n.7527T>A c.7431T>A (p.Ser2477Arg) | dbSNP |
13 | g.32356519T>C | CA483260393 | BRCA2 | c.7527T>C (p.Ser2509=) c.7158T>C (p.Ser2386=) c.92T>C n.7527T>C c.7431T>C (p.Ser2477=) | ClinVar dbSNP |
13 | g.32356519T>G | CA387743572 | BRCA2 | c.7527T>G (p.Ser2509Arg) c.7158T>G (p.Ser2386Arg) c.92T>G n.7527T>G c.7431T>G (p.Ser2477Arg) | dbSNP |
13 | g.32356519T= | CA2082814829 | BRCA2 | c.7527T= (p.Ser2509=) c.7158T= (p.Ser2386=) c.92T= n.7527T= c.7431T= (p.Ser2477=) | |
13 | g.32356520C>A | CA387743574 | BRCA2 | c.7528C>A (p.Leu2510Met) c.7159C>A (p.Leu2387Met) c.93C>A n.7528C>A c.7432C>A (p.Leu2478Met) | dbSNP |
13 | g.32356520C= | CA2082814842 | BRCA2 | c.7528C= (p.Leu2510=) c.7159C= (p.Leu2387=) c.93C= n.7528C= c.7432C= (p.Leu2478=) | |
13 | g.32356520C>G | CA387743576 | BRCA2 | c.7528C>G (p.Leu2510Val) c.7159C>G (p.Leu2387Val) c.93C>G n.7528C>G c.7432C>G (p.Leu2478Val) | dbSNP |
13 | g.32356520C>T | CA483260394 | BRCA2 | c.7528C>T (p.Leu2510=) c.7159C>T (p.Leu2387=) c.93C>T n.7528C>T c.7432C>T (p.Leu2478=) | ClinVar dbSNP |
13 | g.32356520_32356521delinsAC | CA2573149393 | BRCA2 | c.7528_7529delinsAC (p.Leu2510Thr) c.7159_7160delinsAC (p.Leu2387Thr) c.93_94delinsAC n.7528_7529delinsAC c.7432_7433delinsAC (p.Leu2478Thr) | ClinVar dbSNP |
13 | g.32356520_32356522delinsCTG | CA2082814838 | BRCA2 | c.7528_7530delinsCTG (p.Leu2510=) c.7159_7161delinsCTG (p.Leu2387=) c.93_95delinsCTG n.7528_7530delinsCTG c.7432_7434delinsCTG (p.Leu2478=) | |
13 | g.32356521T>A | CA387743582 | BRCA2 | c.7529T>A (p.Leu2510Gln) c.7160T>A (p.Leu2387Gln) c.94T>A n.7529T>A c.7433T>A (p.Leu2478Gln) | dbSNP |
13 | g.32356521T>C | CA025134 | BRCA2 | c.7529T>C (p.Leu2510Pro) c.7160T>C (p.Leu2387Pro) c.94T>C n.7529T>C c.7433T>C (p.Leu2478Pro) | ClinVar dbSNP |
13 | g.32356521T>G | CA387743580 | BRCA2 | c.7529T>G (p.Leu2510Arg) c.7160T>G (p.Leu2387Arg) c.94T>G n.7529T>G c.7433T>G (p.Leu2478Arg) | ClinVar dbSNP |
13 | g.32356521T= | CA2082814862 | BRCA2 | c.7529T= (p.Leu2510=) c.7160T= (p.Leu2387=) c.94T= n.7529T= c.7433T= (p.Leu2478=) | |
13 | g.32356522_32356523del | CA10589436 | BRCA2 | c.7530_7531del (p.Tyr2511SerfsTer27) c.7161_7162del (p.Tyr2388SerfsTer27) c.95_96del n.7530_7531del c.7434_7435del (p.Tyr2479SerfsTer27) | ClinVar dbSNP |
13 | g.32356522G>A | CA16606816 | BRCA2 | c.7530G>A (p.Leu2510=) c.7161G>A (p.Leu2387=) c.95G>A n.7530G>A c.7434G>A (p.Leu2478=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356522G>C | CA483260395 | BRCA2 | c.7530G>C (p.Leu2510=) c.7161G>C (p.Leu2387=) c.95G>C n.7530G>C c.7434G>C (p.Leu2478=) | ClinVar dbSNP |
13 | g.32356522G= | CA2082814872 | BRCA2 | c.7530G= (p.Leu2510=) c.7161G= (p.Leu2387=) c.95G= n.7530G= c.7434G= (p.Leu2478=) | |
13 | g.32356522G>T | CA483260396 | BRCA2 | c.7530G>T (p.Leu2510=) c.7161G>T (p.Leu2387=) c.95G>T n.7530G>T c.7434G>T (p.Leu2478=) | |
13 | g.32356523T>A | CA387743584 | BRCA2 | c.7531T>A (p.Tyr2511Asn) c.7162T>A (p.Tyr2388Asn) c.96T>A n.7531T>A c.7435T>A (p.Tyr2479Asn) | ClinVar dbSNP |
13 | g.32356523T>C | CA387743586 | BRCA2 | c.7531T>C (p.Tyr2511His) c.7162T>C (p.Tyr2388His) c.96T>C n.7531T>C c.7435T>C (p.Tyr2479His) | ClinVar dbSNP gnomAD v4 |
13 | g.32356523T>G | CA387743588 | BRCA2 | c.7531T>G (p.Tyr2511Asp) c.7162T>G (p.Tyr2388Asp) c.96T>G n.7531T>G c.7435T>G (p.Tyr2479Asp) | dbSNP |
13 | g.32356523dup | CA2580087474 | BRCA2 | c.7531dup (p.Tyr2511LeufsTer28) c.7162dup (p.Tyr2388LeufsTer28) c.96dup n.7531dup c.7435dup (p.Tyr2479LeufsTer28) | ClinVar |
13 | g.32356524A= | CA2082814878 | BRCA2 | c.7532A= (p.Tyr2511=) c.7163A= (p.Tyr2388=) c.97A= n.7532A= c.7436A= (p.Tyr2479=) | |
13 | g.32356524A>C | CA387743591 | BRCA2 | c.7532A>C (p.Tyr2511Ser) c.7163A>C (p.Tyr2388Ser) c.97A>C n.7532A>C c.7436A>C (p.Tyr2479Ser) | dbSNP |
13 | g.32356524A>G | CA16619764 | BRCA2 | c.7532A>G (p.Tyr2511Cys) c.7163A>G (p.Tyr2388Cys) c.97A>G n.7532A>G c.7436A>G (p.Tyr2479Cys) | ClinVar dbSNP |
13 | g.32356524A>T | CA387743595 | BRCA2 | c.7532A>T (p.Tyr2511Phe) c.7163A>T (p.Tyr2388Phe) c.97A>T n.7532A>T c.7436A>T (p.Tyr2479Phe) | dbSNP |
13 | g.32356525T>A | CA387743596 | BRCA2 | c.7533T>A (p.Tyr2511Ter) c.7164T>A (p.Tyr2388Ter) c.98T>A n.7533T>A c.7437T>A (p.Tyr2479Ter) | |
13 | g.32356525T>C | CA483260397 | BRCA2 | c.7533T>C (p.Tyr2511=) c.7164T>C (p.Tyr2388=) c.98T>C n.7533T>C c.7437T>C (p.Tyr2479=) | |
13 | g.32356525T>G | CA387743598 | BRCA2 | c.7533T>G (p.Tyr2511Ter) c.7164T>G (p.Tyr2388Ter) c.98T>G n.7533T>G c.7437T>G (p.Tyr2479Ter) | |
13 | g.32356526del | CA2580087475 | BRCA2 | c.7534del (p.Ala2513GlnfsTer11) c.7165del (p.Ala2390GlnfsTer11) c.1del (p.Ala2GlnfsTer11) c.99del n.7534del c.7438del (p.Ala2481GlnfsTer11) | ClinVar dbSNP |
13 | g.32356526C>A | CA387743599 | BRCA2 | c.7534C>A (p.Leu2512Ile) c.7165C>A (p.Leu2389Ile) c.1C>A (p.Leu1Ile) c.99C>A n.7534C>A c.7438C>A (p.Leu2480Ile) | |
13 | g.32356526C= | CA2082814884 | BRCA2 | c.7534C= (p.Leu2512=) c.7165C= (p.Leu2389=) c.1C= (p.Leu1=) c.99C= n.7534C= c.7438C= (p.Leu2480=) | |
13 | g.32356526C>G | CA387743601 | BRCA2 | c.7534C>G (p.Leu2512Val) c.7165C>G (p.Leu2389Val) c.1C>G (p.Leu1Val) c.99C>G n.7534C>G c.7438C>G (p.Leu2480Val) | dbSNP |
13 | g.32356526C>T | CA025136 | BRCA2 | c.7534C>T (p.Leu2512Phe) c.7165C>T (p.Leu2389Phe) c.1C>T (p.Leu1Phe) c.99C>T n.7534C>T c.7438C>T (p.Leu2480Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356527T>A | CA387743605 | BRCA2 | c.7535T>A (p.Leu2512His) c.7166T>A (p.Leu2389His) c.2T>A (p.Leu1His) c.100T>A n.7535T>A c.7439T>A (p.Leu2480His) | dbSNP |
13 | g.32356527T>C | CA387743607 | BRCA2 | c.7535T>C (p.Leu2512Pro) c.7166T>C (p.Leu2389Pro) c.2T>C (p.Leu1Pro) c.100T>C n.7535T>C c.7439T>C (p.Leu2480Pro) | ClinVar dbSNP |
13 | g.32356527T>G | CA387743610 | BRCA2 | c.7535T>G (p.Leu2512Arg) c.7166T>G (p.Leu2389Arg) c.2T>G (p.Leu1Arg) c.100T>G n.7535T>G c.7439T>G (p.Leu2480Arg) | |
13 | g.32356527T= | CA2082814894 | BRCA2 | c.7535T= (p.Leu2512=) c.7166T= (p.Leu2389=) c.2T= (p.Leu1=) c.100T= n.7535T= c.7439T= (p.Leu2480=) | |
13 | g.32356528T>A | CA483260398 | BRCA2 | c.7536T>A (p.Leu2512=) c.7167T>A (p.Leu2389=) c.3T>A (p.Leu1=) c.101T>A n.7536T>A c.7440T>A (p.Leu2480=) | dbSNP |
13 | g.32356528T>C | CA483260399 | BRCA2 | c.7536T>C (p.Leu2512=) c.7167T>C (p.Leu2389=) c.3T>C (p.Leu1=) c.101T>C n.7536T>C c.7440T>C (p.Leu2480=) | ClinVar dbSNP |
13 | g.32356528T>G | CA483260400 | BRCA2 | c.7536T>G (p.Leu2512=) c.7167T>G (p.Leu2389=) c.3T>G (p.Leu1=) c.101T>G n.7536T>G c.7440T>G (p.Leu2480=) | ClinVar |
13 | g.32356528T= | CA2082814904 | BRCA2 | c.7536T= (p.Leu2512=) c.7167T= (p.Leu2389=) c.3T= (p.Leu1=) c.101T= n.7536T= c.7440T= (p.Leu2480=) | |
13 | g.32356529G>A | CA387743615 | BRCA2 | c.7537G>A (p.Ala2513Thr) c.7168G>A (p.Ala2390Thr) c.4G>A (p.Ala2Thr) c.102G>A n.7537G>A c.7441G>A (p.Ala2481Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356529G>C | CA387743613 | BRCA2 | c.7537G>C (p.Ala2513Pro) c.7168G>C (p.Ala2390Pro) c.4G>C (p.Ala2Pro) c.102G>C n.7537G>C c.7441G>C (p.Ala2481Pro) | dbSNP gnomAD v4 |
13 | g.32356529G= | CA2082814916 | BRCA2 | c.7537G= (p.Ala2513=) c.7168G= (p.Ala2390=) c.4G= (p.Ala2=) c.102G= n.7537G= c.7441G= (p.Ala2481=) | |
13 | g.32356529G>T | CA387743612 | BRCA2 | c.7537G>T (p.Ala2513Ser) c.7168G>T (p.Ala2390Ser) c.4G>T (p.Ala2Ser) c.102G>T n.7537G>T c.7441G>T (p.Ala2481Ser) | |
13 | g.32356529_32356530delinsGC | CA2082814921 | BRCA2 | c.7537_7538delinsGC (p.Ala2513=) c.7168_7169delinsGC (p.Ala2390=) c.4_5delinsGC (p.Ala2=) c.102_103delinsGC n.7537_7538delinsGC c.7441_7442delinsGC (p.Ala2481=) | |
13 | g.32356529_32356539delinsGCAAAAACATC | CA2082814910 | BRCA2 | c.7537_7547delinsGCAAAAACATC (p.Ala2513=) c.7168_7178delinsGCAAAAACATC (p.Ala2390=) c.4_14delinsGCAAAAACATC (p.Ala2=) c.102_112delinsGCAAAAACATC n.7537_7547delinsGCAAAAACATC c.7441_7451delinsGCAAAAACATC (p.Ala2481=) | |
13 | g.32356529_32356545delinsGCAAAAACATCCACTCT | CA2082814908 | BRCA2 | c.7537_7553delinsGCAAAAACATCCACTCT (p.Ala2513=) c.7168_7184delinsGCAAAAACATCCACTCT (p.Ala2390=) c.4_20delinsGCAAAAACATCCACTCT (p.Ala2=) c.102_118delinsGCAAAAACATCCACTCT n.7537_7553delinsGCAAAAACATCCACTCT c.7441_7457delinsGCAAAAACATCCACTCT (p.Ala2481=) | |
13 | g.32356530del | CA025137 | BRCA2 | c.7538del (p.Ala2513GlufsTer11) c.7169del (p.Ala2390GlufsTer11) c.5del (p.Ala2GlufsTer11) c.103del n.7538del c.7442del (p.Ala2481GlufsTer11) | ClinVar dbSNP |
13 | g.32356530C>A | CA16614004 | BRCA2 | c.7538C>A (p.Ala2513Glu) c.7169C>A (p.Ala2390Glu) c.5C>A (p.Ala2Glu) c.103C>A n.7538C>A c.7442C>A (p.Ala2481Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356530C= | CA2082814933 | BRCA2 | c.7538C= (p.Ala2513=) c.7169C= (p.Ala2390=) c.5C= (p.Ala2=) c.103C= n.7538C= c.7442C= (p.Ala2481=) | |
13 | g.32356530C>G | CA387743618 | BRCA2 | c.7538C>G (p.Ala2513Gly) c.7169C>G (p.Ala2390Gly) c.5C>G (p.Ala2Gly) c.103C>G n.7538C>G c.7442C>G (p.Ala2481Gly) | |
13 | g.32356530C>T | CA387743619 | BRCA2 | c.7538C>T (p.Ala2513Val) c.7169C>T (p.Ala2390Val) c.5C>T (p.Ala2Val) c.103C>T n.7538C>T c.7442C>T (p.Ala2481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356530_32356531delinsCA | CA2082814931 | BRCA2 | c.7538_7539delinsCA (p.Ala2513=) c.7169_7170delinsCA (p.Ala2390=) c.5_6delinsCA (p.Ala2=) c.103_104delinsCA n.7538_7539delinsCA c.7442_7443delinsCA (p.Ala2481=) | |
13 | g.32356532_32356541del | CA915946870 | BRCA2 | c.7540_7549del (p.Lys2514LeufsTer7) c.7171_7180del (p.Lys2391LeufsTer7) c.7_16del (p.Lys3LeufsTer7) c.105_114del n.7540_7549del c.7444_7453del (p.Lys2482LeufsTer7) | ClinVar dbSNP |
13 | g.32356530_32356545del | CA919242758 | BRCA2 | c.7538_7553del (p.Ala2513GlyfsTer6) c.7169_7184del (p.Ala2390GlyfsTer6) c.5_20del (p.Ala2GlyfsTer6) c.103_118del n.7538_7553del c.7442_7457del (p.Ala2481GlyfsTer6) | dbSNP |
13 | g.32356531A= | CA2082814947 | BRCA2 | c.7539A= (p.Ala2513=) c.7170A= (p.Ala2390=) c.6A= (p.Ala2=) c.104A= n.7539A= c.7443A= (p.Ala2481=) | |
13 | g.32356531A>C | CA483260401 | BRCA2 | c.7539A>C (p.Ala2513=) c.7170A>C (p.Ala2390=) c.6A>C (p.Ala2=) c.104A>C n.7539A>C c.7443A>C (p.Ala2481=) | |
13 | g.32356531A>G | CA483260402 | BRCA2 | c.7539A>G (p.Ala2513=) c.7170A>G (p.Ala2390=) c.6A>G (p.Ala2=) c.104A>G n.7539A>G c.7443A>G (p.Ala2481=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356531A>T | CA483260403 | BRCA2 | c.7539A>T (p.Ala2513=) c.7170A>T (p.Ala2390=) c.6A>T (p.Ala2=) c.104A>T n.7539A>T c.7443A>T (p.Ala2481=) | dbSNP |
13 | g.32356535dup | CA025138 | BRCA2 | c.7543dup (p.Thr2515AsnfsTer24) c.7174dup (p.Thr2392AsnfsTer24) c.10dup (p.Thr4AsnfsTer24) c.108dup n.7543dup c.7447dup (p.Thr2483AsnfsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356535del | CA025139 | BRCA2 | c.7543del (p.Thr2515HisfsTer9) c.7174del (p.Thr2392HisfsTer9) c.10del (p.Thr4HisfsTer9) c.108del n.7543del c.7447del (p.Thr2483HisfsTer9) | ClinVar dbSNP |
13 | g.32356532A= | CA2082814954 | BRCA2 | c.7540A= (p.Lys2514=) c.7171A= (p.Lys2391=) c.7A= (p.Lys3=) c.105A= n.7540A= c.7444A= (p.Lys2482=) | |
13 | g.32356532A>C | CA387743623 | BRCA2 | c.7540A>C (p.Lys2514Gln) c.7171A>C (p.Lys2391Gln) c.7A>C (p.Lys3Gln) c.105A>C n.7540A>C c.7444A>C (p.Lys2482Gln) | dbSNP |
13 | g.32356532A>G | CA348259 | BRCA2 | c.7540A>G (p.Lys2514Glu) c.7171A>G (p.Lys2391Glu) c.7A>G (p.Lys3Glu) c.105A>G n.7540A>G c.7444A>G (p.Lys2482Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356532A>T | CA387743626 | BRCA2 | c.7540A>T (p.Lys2514Ter) c.7171A>T (p.Lys2391Ter) c.7A>T (p.Lys3Ter) c.105A>T n.7540A>T c.7444A>T (p.Lys2482Ter) | dbSNP |
13 | g.32356533A= | CA2082814967 | BRCA2 | c.7541A= (p.Lys2514=) c.7172A= (p.Lys2391=) c.8A= (p.Lys3=) c.106A= n.7541A= c.7445A= (p.Lys2482=) | |
13 | g.32356533A>C | CA387743633 | BRCA2 | c.7541A>C (p.Lys2514Thr) c.7172A>C (p.Lys2391Thr) c.8A>C (p.Lys3Thr) c.106A>C n.7541A>C c.7445A>C (p.Lys2482Thr) | ClinVar dbSNP |
13 | g.32356533A>G | CA387743629 | BRCA2 | c.7541A>G (p.Lys2514Arg) c.7172A>G (p.Lys2391Arg) c.8A>G (p.Lys3Arg) c.106A>G n.7541A>G c.7445A>G (p.Lys2482Arg) | |
13 | g.32356533A>T | CA387743631 | BRCA2 | c.7541A>T (p.Lys2514Ile) c.7172A>T (p.Lys2391Ile) c.8A>T (p.Lys3Ile) c.106A>T n.7541A>T c.7445A>T (p.Lys2482Ile) | |
13 | g.32356534_32356541dup | CA2499222294 | BRCA2 | c.7542_7549dup (p.Thr2517LysfsTer10) c.7173_7180dup (p.Thr2394LysfsTer10) c.9_16dup (p.Thr6LysfsTer10) c.107_114dup n.7542_7549dup c.7446_7453dup (p.Thr2485LysfsTer10) | ClinVar dbSNP |
13 | g.32356534A>C | CA387743635 | BRCA2 | c.7542A>C (p.Lys2514Asn) c.7173A>C (p.Lys2391Asn) c.9A>C (p.Lys3Asn) c.107A>C n.7542A>C c.7446A>C (p.Lys2482Asn) | ClinVar |
13 | g.32356534A>G | CA483260404 | BRCA2 | c.7542A>G (p.Lys2514=) c.7173A>G (p.Lys2391=) c.9A>G (p.Lys3=) c.107A>G n.7542A>G c.7446A>G (p.Lys2482=) | |
13 | g.32356534A>T | CA387743637 | BRCA2 | c.7542A>T (p.Lys2514Asn) c.7173A>T (p.Lys2391Asn) c.9A>T (p.Lys3Asn) c.107A>T n.7542A>T c.7446A>T (p.Lys2482Asn) | dbSNP |
13 | g.32356535A= | CA2082814976 | BRCA2 | c.7543A= (p.Thr2515=) c.7174A= (p.Thr2392=) c.10A= (p.Thr4=) c.108A= n.7543A= c.7447A= (p.Thr2483=) | |
13 | g.32356535A>C | CA387743640 | BRCA2 | c.7543A>C (p.Thr2515Pro) c.7174A>C (p.Thr2392Pro) c.10A>C (p.Thr4Pro) c.108A>C n.7543A>C c.7447A>C (p.Thr2483Pro) | dbSNP gnomAD v2 |
13 | g.32356535A>G | CA387743642 | BRCA2 | c.7543A>G (p.Thr2515Ala) c.7174A>G (p.Thr2392Ala) c.10A>G (p.Thr4Ala) c.108A>G n.7543A>G c.7447A>G (p.Thr2483Ala) | |
13 | g.32356535A>T | CA387743645 | BRCA2 | c.7543A>T (p.Thr2515Ser) c.7174A>T (p.Thr2392Ser) c.10A>T (p.Thr4Ser) c.108A>T n.7543A>T c.7447A>T (p.Thr2483Ser) | ClinVar dbSNP |
13 | g.32356535_32356536delinsAC | CA2082814971 | BRCA2 | c.7543_7544delinsAC (p.Thr2515=) c.7174_7175delinsAC (p.Thr2392=) c.10_11delinsAC (p.Thr4=) c.108_109delinsAC n.7543_7544delinsAC c.7447_7448delinsAC (p.Thr2483=) | |
13 | g.32356536del | CA025141 | BRCA2 | c.7544del (p.Thr2515AsnfsTer9) c.7175del (p.Thr2392AsnfsTer9) c.11del (p.Thr4AsnfsTer9) c.109del n.7544del c.7448del (p.Thr2483AsnfsTer9) | ClinVar dbSNP |
13 | g.32356536C>A | CA387743648 | BRCA2 | c.7544C>A (p.Thr2515Lys) c.7175C>A (p.Thr2392Lys) c.11C>A (p.Thr4Lys) c.109C>A n.7544C>A c.7448C>A (p.Thr2483Lys) | dbSNP |
13 | g.32356536C= | CA2082814987 | BRCA2 | c.7544C= (p.Thr2515=) c.7175C= (p.Thr2392=) c.11C= (p.Thr4=) c.109C= n.7544C= c.7448C= (p.Thr2483=) | |
13 | g.32356536C>G | CA387743658 | BRCA2 | c.7544C>G (p.Thr2515Arg) c.7175C>G (p.Thr2392Arg) c.11C>G (p.Thr4Arg) c.109C>G n.7544C>G c.7448C>G (p.Thr2483Arg) | dbSNP |
13 | g.32356536C>T | CA025140 | BRCA2 | c.7544C>T (p.Thr2515Ile) c.7175C>T (p.Thr2392Ile) c.11C>T (p.Thr4Ile) c.109C>T n.7544C>T c.7448C>T (p.Thr2483Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.32356537A= | CA2082814995 | BRCA2 | c.7545A= (p.Thr2515=) c.7176A= (p.Thr2392=) c.12A= (p.Thr4=) c.110A= n.7545A= c.7449A= (p.Thr2483=) | |
13 | g.32356537A>C | CA483260405 | BRCA2 | c.7545A>C (p.Thr2515=) c.7176A>C (p.Thr2392=) c.12A>C (p.Thr4=) c.110A>C n.7545A>C c.7449A>C (p.Thr2483=) | dbSNP |
13 | g.32356537A>G | CA6941106 | BRCA2 | c.7545A>G (p.Thr2515=) c.7176A>G (p.Thr2392=) c.12A>G (p.Thr4=) c.110A>G n.7545A>G c.7449A>G (p.Thr2483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356537A>T | CA483260406 | BRCA2 | c.7545A>T (p.Thr2515=) c.7176A>T (p.Thr2392=) c.12A>T (p.Thr4=) c.110A>T n.7545A>T c.7449A>T (p.Thr2483=) | ClinVar dbSNP |
13 | g.32356537dup | CA2837995282 | BRCA2 | c.7545dup (p.Ser2516IlefsTer23) c.7176dup (p.Ser2393IlefsTer23) c.12dup (p.Ser5IlefsTer23) c.110dup n.7545dup c.7449dup (p.Ser2484IlefsTer23) | |
13 | g.32356538T>A | CA387743663 | BRCA2 | c.7546T>A (p.Ser2516Thr) c.7177T>A (p.Ser2393Thr) c.13T>A (p.Ser5Thr) c.111T>A n.7546T>A c.7450T>A (p.Ser2484Thr) | |
13 | g.32356538T>C | CA387743665 | BRCA2 | c.7546T>C (p.Ser2516Pro) c.7177T>C (p.Ser2393Pro) c.13T>C (p.Ser5Pro) c.111T>C n.7546T>C c.7450T>C (p.Ser2484Pro) | ClinVar dbSNP |
13 | g.32356538T>G | CA387743667 | BRCA2 | c.7546T>G (p.Ser2516Ala) c.7177T>G (p.Ser2393Ala) c.13T>G (p.Ser5Ala) c.111T>G n.7546T>G c.7450T>G (p.Ser2484Ala) | dbSNP |
13 | g.32356538T= | CA2082815004 | BRCA2 | c.7546T= (p.Ser2516=) c.7177T= (p.Ser2393=) c.13T= (p.Ser5=) c.111T= n.7546T= c.7450T= (p.Ser2484=) | |
13 | g.32356539C>A | CA387743670 | BRCA2 | c.7547C>A (p.Ser2516Tyr) c.7178C>A (p.Ser2393Tyr) c.14C>A (p.Ser5Tyr) c.112C>A n.7547C>A c.7451C>A (p.Ser2484Tyr) | dbSNP |
13 | g.32356539C= | CA2082815019 | BRCA2 | c.7547C= (p.Ser2516=) c.7178C= (p.Ser2393=) c.14C= (p.Ser5=) c.112C= n.7547C= c.7451C= (p.Ser2484=) | |
13 | g.32356539C>G | CA10577492 | BRCA2 | c.7547C>G (p.Ser2516Cys) c.7178C>G (p.Ser2393Cys) c.14C>G (p.Ser5Cys) c.112C>G n.7547C>G c.7451C>G (p.Ser2484Cys) | ClinVar dbSNP gnomAD v4 |
13 | g.32356539C>T | CA6941107 | BRCA2 | c.7547C>T (p.Ser2516Phe) c.7178C>T (p.Ser2393Phe) c.14C>T (p.Ser5Phe) c.112C>T n.7547C>T c.7451C>T (p.Ser2484Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356540del | CA2580087479 | BRCA2 | c.7548del (p.Thr2517LeufsTer7) c.7179del (p.Thr2394LeufsTer7) c.15del (p.Thr6LeufsTer7) c.113del n.7548del c.7452del (p.Thr2485LeufsTer7) | ClinVar |
13 | g.32356539_32356541delinsCCA | CA2082815016 | BRCA2 | c.7547_7549delinsCCA (p.Ser2516=) c.7178_7180delinsCCA (p.Ser2393=) c.14_16delinsCCA (p.Ser5=) c.112_114delinsCCA n.7547_7549delinsCCA c.7451_7453delinsCCA (p.Ser2484=) | |
13 | g.32356539_32356540insACCAAACACACCCAACA | CA2798719183 | BRCA2 | c.7547_7548insACCAAACACACCCAACA (p.Thr2517ProfsTer13) c.7178_7179insACCAAACACACCCAACA (p.Thr2394ProfsTer13) c.14_15insACCAAACACACCCAACA (p.Thr6ProfsTer13) c.112_113insACCAAACACACCCAACA n.7547_7548insACCAAACACACCCAACA c.7451_7452insACCAAACACACCCAACA (p.Thr2485ProfsTer13) | |
13 | g.32356540C>A | CA483260407 | BRCA2 | c.7548C>A (p.Ser2516=) c.7179C>A (p.Ser2393=) c.15C>A (p.Ser5=) c.113C>A n.7548C>A c.7452C>A (p.Ser2484=) | |
13 | g.32356540C>G | CA483260408 | BRCA2 | c.7548C>G (p.Ser2516=) c.7179C>G (p.Ser2393=) c.15C>G (p.Ser5=) c.113C>G n.7548C>G c.7452C>G (p.Ser2484=) | dbSNP |
13 | g.32356540C>T | CA483260409 | BRCA2 | c.7548C>T (p.Ser2516=) c.7179C>T (p.Ser2393=) c.15C>T (p.Ser5=) c.113C>T n.7548C>T c.7452C>T (p.Ser2484=) | dbSNP gnomAD v4 |
13 | g.32356541_32356542del | CA10586579 | BRCA2 | c.7549_7550del (p.Thr2517SerfsTer21) c.7180_7181del (p.Thr2394SerfsTer21) c.16_17del (p.Thr6SerfsTer21) c.114_115del n.7549_7550del c.7453_7454del (p.Thr2485SerfsTer21) | ClinVar dbSNP |
13 | g.32356541A= | CA2082815029 | BRCA2 | c.7549A= (p.Thr2517=) c.7180A= (p.Thr2394=) c.16A= (p.Thr6=) c.114A= n.7549A= c.7453A= (p.Thr2485=) | |
13 | g.32356541A>C | CA387743677 | BRCA2 | c.7549A>C (p.Thr2517Pro) c.7180A>C (p.Thr2394Pro) c.16A>C (p.Thr6Pro) c.114A>C n.7549A>C c.7453A>C (p.Thr2485Pro) | gnomAD v4 |
13 | g.32356541A>G | CA387743679 | BRCA2 | c.7549A>G (p.Thr2517Ala) c.7180A>G (p.Thr2394Ala) c.16A>G (p.Thr6Ala) c.114A>G n.7549A>G c.7453A>G (p.Thr2485Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32356541A>T | CA387743681 | BRCA2 | c.7549A>T (p.Thr2517Ser) c.7180A>T (p.Thr2394Ser) c.16A>T (p.Thr6Ser) c.114A>T n.7549A>T c.7453A>T (p.Thr2485Ser) | dbSNP |
13 | g.32356542C>A | CA387743684 | BRCA2 | c.7550C>A (p.Thr2517Asn) c.7181C>A (p.Thr2394Asn) c.17C>A (p.Thr6Asn) c.115C>A n.7550C>A c.7454C>A (p.Thr2485Asn) | dbSNP |
13 | g.32356542C= | CA2082815039 | BRCA2 | c.7550C= (p.Thr2517=) c.7181C= (p.Thr2394=) c.17C= (p.Thr6=) c.115C= n.7550C= c.7454C= (p.Thr2485=) | |
13 | g.32356542C>G | CA387743689 | BRCA2 | c.7550C>G (p.Thr2517Ser) c.7181C>G (p.Thr2394Ser) c.17C>G (p.Thr6Ser) c.115C>G n.7550C>G c.7454C>G (p.Thr2485Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32356542C>T | CA387743686 | BRCA2 | c.7550C>T (p.Thr2517Ile) c.7181C>T (p.Thr2394Ile) c.17C>T (p.Thr6Ile) c.115C>T n.7550C>T c.7454C>T (p.Thr2485Ile) | ClinVar dbSNP |
13 | g.32356543T>A | CA483260410 | BRCA2 | c.7551T>A (p.Thr2517=) c.7182T>A (p.Thr2394=) c.18T>A (p.Thr6=) c.116T>A n.7551T>A c.7455T>A (p.Thr2485=) | dbSNP |
13 | g.32356543T>C | CA483260411 | BRCA2 | c.7551T>C (p.Thr2517=) c.7182T>C (p.Thr2394=) c.18T>C (p.Thr6=) c.116T>C n.7551T>C c.7455T>C (p.Thr2485=) | ClinVar dbSNP |
13 | g.32356543T>G | CA483260412 | BRCA2 | c.7551T>G (p.Thr2517=) c.7182T>G (p.Thr2394=) c.18T>G (p.Thr6=) c.116T>G n.7551T>G c.7455T>G (p.Thr2485=) | |
13 | g.32356543T= | CA2082815050 | BRCA2 | c.7551T= (p.Thr2517=) c.7182T= (p.Thr2394=) c.18T= (p.Thr6=) c.116T= n.7551T= c.7455T= (p.Thr2485=) | |
13 | g.32356543dup | CA919242763 | BRCA2 | c.7551dup (p.Leu2518SerfsTer21) c.7182dup (p.Leu2395SerfsTer21) c.18dup (p.Leu7SerfsTer21) c.116dup n.7551dup c.7455dup (p.Leu2486SerfsTer21) | dbSNP |
13 | g.32356544C>A | CA387743691 | BRCA2 | c.7552C>A (p.Leu2518Met) c.7183C>A (p.Leu2395Met) c.19C>A (p.Leu7Met) c.117C>A n.7552C>A c.7456C>A (p.Leu2486Met) | dbSNP |
13 | g.32356544C= | CA2082815059 | BRCA2 | c.7552C= (p.Leu2518=) c.7183C= (p.Leu2395=) c.19C= (p.Leu7=) c.117C= n.7552C= c.7456C= (p.Leu2486=) | |
13 | g.32356544C>G | CA387743693 | BRCA2 | c.7552C>G (p.Leu2518Val) c.7183C>G (p.Leu2395Val) c.19C>G (p.Leu7Val) c.117C>G n.7552C>G c.7456C>G (p.Leu2486Val) | ClinVar dbSNP |
13 | g.32356544C>T | CA483260413 | BRCA2 | c.7552C>T (p.Leu2518=) c.7183C>T (p.Leu2395=) c.19C>T (p.Leu7=) c.117C>T n.7552C>T c.7456C>T (p.Leu2486=) | ClinVar dbSNP |
13 | g.32356545T>A | CA387743695 | BRCA2 | c.7553T>A (p.Leu2518Gln) c.7184T>A (p.Leu2395Gln) c.20T>A (p.Leu7Gln) c.118T>A n.7553T>A c.7457T>A (p.Leu2486Gln) | |
13 | g.32356545T>C | CA387743698 | BRCA2 | c.7553T>C (p.Leu2518Pro) c.7184T>C (p.Leu2395Pro) c.20T>C (p.Leu7Pro) c.118T>C n.7553T>C c.7457T>C (p.Leu2486Pro) | |
13 | g.32356545T>G | CA387743700 | BRCA2 | c.7553T>G (p.Leu2518Arg) c.7184T>G (p.Leu2395Arg) c.20T>G (p.Leu7Arg) c.118T>G n.7553T>G c.7457T>G (p.Leu2486Arg) | ClinVar dbSNP |
13 | g.32356545T= | CA2082815094 | BRCA2 | c.7553T= (p.Leu2518=) c.7184T= (p.Leu2395=) c.20T= (p.Leu7=) c.118T= n.7553T= c.7457T= (p.Leu2486=) | |
13 | g.32356545dup | CA2499222295 | BRCA2 | c.7553dup (p.Pro2519AlafsTer20) c.7184dup (p.Pro2396AlafsTer20) c.20dup (p.Pro8AlafsTer20) c.118dup n.7553dup c.7457dup (p.Pro2487AlafsTer20) | |
13 | g.32356546G>A | CA483260416 | BRCA2 | c.7554G>A (p.Leu2518=) c.7185G>A (p.Leu2395=) c.21G>A (p.Leu7=) c.119G>A n.7554G>A c.7458G>A (p.Leu2486=) | ClinVar dbSNP |
13 | g.32356546G>C | CA483260415 | BRCA2 | c.7554G>C (p.Leu2518=) c.7185G>C (p.Leu2395=) c.21G>C (p.Leu7=) c.119G>C n.7554G>C c.7458G>C (p.Leu2486=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356546G= | CA2082815098 | BRCA2 | c.7554G= (p.Leu2518=) c.7185G= (p.Leu2395=) c.21G= (p.Leu7=) c.119G= n.7554G= c.7458G= (p.Leu2486=) | |
13 | g.32356546G>T | CA483260414 | BRCA2 | c.7554G>T (p.Leu2518=) c.7185G>T (p.Leu2395=) c.21G>T (p.Leu7=) c.119G>T n.7554G>T c.7458G>T (p.Leu2486=) | dbSNP |
13 | g.32356547C>A | CA387743707 | BRCA2 | c.7555C>A (p.Pro2519Thr) c.7186C>A (p.Pro2396Thr) c.22C>A (p.Pro8Thr) c.120C>A n.7555C>A c.7459C>A (p.Pro2487Thr) | dbSNP |
13 | g.32356547C>G | CA387743704 | BRCA2 | c.7555C>G (p.Pro2519Ala) c.7186C>G (p.Pro2396Ala) c.22C>G (p.Pro8Ala) c.120C>G n.7555C>G c.7459C>G (p.Pro2487Ala) | dbSNP |
13 | g.32356547C>T | CA387743703 | BRCA2 | c.7555C>T (p.Pro2519Ser) c.7186C>T (p.Pro2396Ser) c.22C>T (p.Pro8Ser) c.120C>T n.7555C>T c.7459C>T (p.Pro2487Ser) | dbSNP |
13 | g.32356548dup | CA025143 | BRCA2 | c.7556dup (p.Arg2520SerfsTer19) c.7187dup (p.Arg2397SerfsTer19) c.23dup (p.Arg9SerfsTer19) c.121dup n.7556dup c.7460dup (p.Arg2488SerfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356548C>A | CA387743711 | BRCA2 | c.7556C>A (p.Pro2519His) c.7187C>A (p.Pro2396His) c.23C>A (p.Pro8His) c.121C>A n.7556C>A c.7460C>A (p.Pro2487His) | |
13 | g.32356548C= | CA2082815111 | BRCA2 | c.7556C= (p.Pro2519=) c.7187C= (p.Pro2396=) c.23C= (p.Pro8=) c.121C= n.7556C= c.7460C= (p.Pro2487=) | |
13 | g.32356548C>G | CA387743713 | BRCA2 | c.7556C>G (p.Pro2519Arg) c.7187C>G (p.Pro2396Arg) c.23C>G (p.Pro8Arg) c.121C>G n.7556C>G c.7460C>G (p.Pro2487Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32356548C>T | CA6941108 | BRCA2 | c.7556C>T (p.Pro2519Leu) c.7187C>T (p.Pro2396Leu) c.23C>T (p.Pro8Leu) c.121C>T n.7556C>T c.7460C>T (p.Pro2487Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356549T>A | CA483260417 | BRCA2 | c.7557T>A (p.Pro2519=) c.7188T>A (p.Pro2396=) c.24T>A (p.Pro8=) c.122T>A n.7557T>A c.7461T>A (p.Pro2487=) | dbSNP |
13 | g.32356549T>C | CA483260418 | BRCA2 | c.7557T>C (p.Pro2519=) c.7188T>C (p.Pro2396=) c.24T>C (p.Pro8=) c.122T>C n.7557T>C c.7461T>C (p.Pro2487=) | ClinVar dbSNP |
13 | g.32356549T>G | CA483260419 | BRCA2 | c.7557T>G (p.Pro2519=) c.7188T>G (p.Pro2396=) c.24T>G (p.Pro8=) c.122T>G n.7557T>G c.7461T>G (p.Pro2487=) | |
13 | g.32356549T= | CA2082815122 | BRCA2 | c.7557T= (p.Pro2519=) c.7188T= (p.Pro2396=) c.24T= (p.Pro8=) c.122T= n.7557T= c.7461T= (p.Pro2487=) | |
13 | g.32356549_32356550delinsTC | CA2082815119 | BRCA2 | c.7557_7558delinsTC (p.Pro2519=) c.7188_7189delinsTC (p.Pro2396=) c.24_25delinsTC (p.Pro8=) c.122_123delinsTC n.7557_7558delinsTC c.7461_7462delinsTC (p.Pro2487=) | |
13 | g.32356550del | CA10589437 | BRCA2 | c.7558del (p.Arg2520GlufsTer4) c.7189del (p.Arg2397GlufsTer4) c.25del (p.Arg9GlufsTer4) c.123del n.7558del c.7462del (p.Arg2488GlufsTer4) | ClinVar dbSNP |
13 | g.32356550C>A | CA483260420 | BRCA2 | c.7558C>A (p.Arg2520=) c.7189C>A (p.Arg2397=) c.25C>A (p.Arg9=) c.123C>A n.7558C>A c.7462C>A (p.Arg2488=) | dbSNP |
13 | g.32356550C= | CA2082815143 | BRCA2 | c.7558C= (p.Arg2520=) c.7189C= (p.Arg2397=) c.25C= (p.Arg9=) c.123C= n.7558C= c.7462C= (p.Arg2488=) | |
13 | g.32356550C>G | CA387743717 | BRCA2 | c.7558C>G (p.Arg2520Gly) c.7189C>G (p.Arg2397Gly) c.25C>G (p.Arg9Gly) c.123C>G n.7558C>G c.7462C>G (p.Arg2488Gly) | ClinVar dbSNP |
13 | g.32356550C>T | CA025146 | BRCA2 | c.7558C>T (p.Arg2520Ter) c.7189C>T (p.Arg2397Ter) c.25C>T (p.Arg9Ter) c.123C>T n.7558C>T c.7462C>T (p.Arg2488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356551G>A | CA025147 | BRCA2 | c.7559G>A (p.Arg2520Gln) c.7190G>A (p.Arg2397Gln) c.26G>A (p.Arg9Gln) c.124G>A n.7559G>A c.7463G>A (p.Arg2488Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356551G>C | CA025148 | BRCA2 | c.7559G>C (p.Arg2520Pro) c.7190G>C (p.Arg2397Pro) c.26G>C (p.Arg9Pro) c.124G>C n.7559G>C c.7463G>C (p.Arg2488Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356551G= | CA2082815157 | BRCA2 | c.7559G= (p.Arg2520=) c.7190G= (p.Arg2397=) c.26G= (p.Arg9=) c.124G= n.7559G= c.7463G= (p.Arg2488=) | |
13 | g.32356551G>T | CA025149 | BRCA2 | c.7559G>T (p.Arg2520Leu) c.7190G>T (p.Arg2397Leu) c.26G>T (p.Arg9Leu) c.124G>T n.7559G>T c.7463G>T (p.Arg2488Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356551_32356552delinsGA | CA2082815167 | BRCA2 | c.7559_7560delinsGA (p.Arg2520=) c.7190_7191delinsGA (p.Arg2397=) c.26_27delinsGA (p.Arg9=) c.124_125delinsGA n.7559_7560delinsGA c.7463_7464delinsGA (p.Arg2488=) | |
13 | g.32356552A= | CA2082815178 | BRCA2 | c.7560A= (p.Arg2520=) c.7191A= (p.Arg2397=) c.27A= (p.Arg9=) c.125A= n.7560A= c.7464A= (p.Arg2488=) | |
13 | g.32356552A>C | CA483260422 | BRCA2 | c.7560A>C (p.Arg2520=) c.7191A>C (p.Arg2397=) c.27A>C (p.Arg9=) c.125A>C n.7560A>C c.7464A>C (p.Arg2488=) | ClinVar |
13 | g.32356552A>G | CA483260423 | BRCA2 | c.7560A>G (p.Arg2520=) c.7191A>G (p.Arg2397=) c.27A>G (p.Arg9=) c.125A>G n.7560A>G c.7464A>G (p.Arg2488=) | |
13 | g.32356552A>T | CA483260424 | BRCA2 | c.7560A>T (p.Arg2520=) c.7191A>T (p.Arg2397=) c.27A>T (p.Arg9=) c.125A>T n.7560A>T c.7464A>T (p.Arg2488=) | ClinVar dbSNP |
13 | g.32356553del | CA10589438 | BRCA2 | c.7561del (p.Ile2521SerfsTer3) c.7192del (p.Ile2398SerfsTer3) c.28del (p.Ile10SerfsTer3) c.126del n.7561del c.7465del (p.Ile2489SerfsTer3) | ClinVar dbSNP |
13 | g.32356553A= | CA2082815194 | BRCA2 | c.7561A= (p.Ile2521=) c.7192A= (p.Ile2398=) c.28A= (p.Ile10=) c.126A= n.7561A= c.7465A= (p.Ile2489=) | |
13 | g.32356553A>C | CA387743728 | BRCA2 | c.7561A>C (p.Ile2521Leu) c.7192A>C (p.Ile2398Leu) c.28A>C (p.Ile10Leu) c.126A>C n.7561A>C c.7465A>C (p.Ile2489Leu) | ClinVar dbSNP |
13 | g.32356553A>G | CA025151 | BRCA2 | c.7561A>G (p.Ile2521Val) c.7192A>G (p.Ile2398Val) c.28A>G (p.Ile10Val) c.126A>G n.7561A>G c.7465A>G (p.Ile2489Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356553A>T | CA387743735 | BRCA2 | c.7561A>T (p.Ile2521Phe) c.7192A>T (p.Ile2398Phe) c.28A>T (p.Ile10Phe) c.126A>T n.7561A>T c.7465A>T (p.Ile2489Phe) | dbSNP |
13 | g.32356553_32356557delinsATCTC | CA2082815189 | BRCA2 | c.7561_7565delinsATCTC (p.Ile2521=) c.7192_7196delinsATCTC (p.Ile2398=) c.28_32delinsATCTC (p.Ile10=) c.126_130delinsATCTC n.7561_7565delinsATCTC c.7465_7469delinsATCTC (p.Ile2489=) | |
13 | g.32356554T>A | CA387743739 | BRCA2 | c.7562T>A (p.Ile2521Asn) c.7193T>A (p.Ile2398Asn) c.29T>A (p.Ile10Asn) c.127T>A n.7562T>A c.7466T>A (p.Ile2489Asn) | dbSNP |
13 | g.32356554T>C | CA025152 | BRCA2 | c.7562T>C (p.Ile2521Thr) c.7193T>C (p.Ile2398Thr) c.29T>C (p.Ile10Thr) c.127T>C n.7562T>C c.7466T>C (p.Ile2489Thr) | ClinVar dbSNP |
13 | g.32356554T>G | CA387743743 | BRCA2 | c.7562T>G (p.Ile2521Ser) c.7193T>G (p.Ile2398Ser) c.29T>G (p.Ile10Ser) c.127T>G n.7562T>G c.7466T>G (p.Ile2489Ser) | |
13 | g.32356554T= | CA2082815212 | BRCA2 | c.7562T= (p.Ile2521=) c.7193T= (p.Ile2398=) c.29T= (p.Ile10=) c.127T= n.7562T= c.7466T= (p.Ile2489=) | |
13 | g.32356559_32356560del | CA025157 | BRCA2 | c.7567_7568del (p.Leu2523GlufsTer15) c.7198_7199del (p.Leu2400GlufsTer15) c.34_35del (p.Leu12GlufsTer15) c.132_133del n.7567_7568del c.7471_7472del (p.Leu2491GlufsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356557_32356560del | CA10589439 | BRCA2 | c.7565_7568del (p.Ser2522Ter) c.7196_7199del (p.Ser2399Ter) c.32_35del (p.Ser11Ter) c.130_133del n.7565_7568del c.7469_7472del (p.Ser2490Ter) | ClinVar dbSNP |
13 | g.32356555del | CA2573149394 | BRCA2 | c.7563del (p.Ser2522LeufsTer2) c.7194del (p.Ser2399LeufsTer2) c.30del (p.Ser11LeufsTer2) c.128del n.7563del c.7467del (p.Ser2490LeufsTer2) | ClinVar dbSNP |
13 | g.32356555C>A | CA025153 | BRCA2 | c.7563C>A (p.Ile2521=) c.7194C>A (p.Ile2398=) c.30C>A (p.Ile10=) c.128C>A n.7563C>A c.7467C>A (p.Ile2489=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356555C= | CA2082815225 | BRCA2 | c.7563C= (p.Ile2521=) c.7194C= (p.Ile2398=) c.30C= (p.Ile10=) c.128C= n.7563C= c.7467C= (p.Ile2489=) | |
13 | g.32356555C>G | CA387743749 | BRCA2 | c.7563C>G (p.Ile2521Met) c.7194C>G (p.Ile2398Met) c.30C>G (p.Ile10Met) c.128C>G n.7563C>G c.7467C>G (p.Ile2489Met) | ClinVar dbSNP |
13 | g.32356555C>T | CA483260425 | BRCA2 | c.7563C>T (p.Ile2521=) c.7194C>T (p.Ile2398=) c.30C>T (p.Ile10=) c.128C>T n.7563C>T c.7467C>T (p.Ile2489=) | dbSNP |
13 | g.32356556T>A | CA387743752 | BRCA2 | c.7564T>A (p.Ser2522Thr) c.7195T>A (p.Ser2399Thr) c.31T>A (p.Ser11Thr) c.129T>A n.7564T>A c.7468T>A (p.Ser2490Thr) | dbSNP |
13 | g.32356556T>C | CA387743753 | BRCA2 | c.7564T>C (p.Ser2522Pro) c.7195T>C (p.Ser2399Pro) c.31T>C (p.Ser11Pro) c.129T>C n.7564T>C c.7468T>C (p.Ser2490Pro) | dbSNP |
13 | g.32356556T>G | CA387743755 | BRCA2 | c.7564T>G (p.Ser2522Ala) c.7195T>G (p.Ser2399Ala) c.31T>G (p.Ser11Ala) c.129T>G n.7564T>G c.7468T>G (p.Ser2490Ala) | |
13 | g.32356557C>A | CA387743761 | BRCA2 | c.7565C>A (p.Ser2522Tyr) c.7196C>A (p.Ser2399Tyr) c.32C>A (p.Ser11Tyr) c.130C>A n.7565C>A c.7469C>A (p.Ser2490Tyr) | |
13 | g.32356557C= | CA2082815237 | BRCA2 | c.7565C= (p.Ser2522=) c.7196C= (p.Ser2399=) c.32C= (p.Ser11=) c.130C= n.7565C= c.7469C= (p.Ser2490=) | |
13 | g.32356557C>G | CA387743759 | BRCA2 | c.7565C>G (p.Ser2522Cys) c.7196C>G (p.Ser2399Cys) c.32C>G (p.Ser11Cys) c.130C>G n.7565C>G c.7469C>G (p.Ser2490Cys) | |
13 | g.32356557C>T | CA025154 | BRCA2 | c.7565C>T (p.Ser2522Phe) c.7196C>T (p.Ser2399Phe) c.32C>T (p.Ser11Phe) c.130C>T n.7565C>T c.7469C>T (p.Ser2490Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356557_32356559delinsTTT | CA2825002141 | BRCA2 | c.7565_7567delinsTTT (p.Ser2522Phe) c.7196_7198delinsTTT (p.Ser2399Phe) c.32_34delinsTTT (p.Ser11Phe) c.130_132delinsTTT n.7565_7567delinsTTT c.7469_7471delinsTTT (p.Ser2490Phe) | ClinVar |
13 | g.32356558T>A | CA483260426 | BRCA2 | c.7566T>A (p.Ser2522=) c.7197T>A (p.Ser2399=) c.33T>A (p.Ser11=) c.131T>A n.7566T>A c.7470T>A (p.Ser2490=) | dbSNP |
13 | g.32356558T>C | CA483260427 | BRCA2 | c.7566T>C (p.Ser2522=) c.7197T>C (p.Ser2399=) c.33T>C (p.Ser11=) c.131T>C n.7566T>C c.7470T>C (p.Ser2490=) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32356558T>G | CA483260428 | BRCA2 | c.7566T>G (p.Ser2522=) c.7197T>G (p.Ser2399=) c.33T>G (p.Ser11=) c.131T>G n.7566T>G c.7470T>G (p.Ser2490=) | ClinVar |
13 | g.32356559C>A | CA387743767 | BRCA2 | c.7567C>A (p.Leu2523Met) c.7198C>A (p.Leu2400Met) c.34C>A (p.Leu12Met) c.132C>A n.7567C>A c.7471C>A (p.Leu2491Met) | |
13 | g.32356559C= | CA2082815244 | BRCA2 | c.7567C= (p.Leu2523=) c.7198C= (p.Leu2400=) c.34C= (p.Leu12=) c.132C= n.7567C= c.7471C= (p.Leu2491=) | |
13 | g.32356559C>G | CA387743765 | BRCA2 | c.7567C>G (p.Leu2523Val) c.7198C>G (p.Leu2400Val) c.34C>G (p.Leu12Val) c.132C>G n.7567C>G c.7471C>G (p.Leu2491Val) | dbSNP |
13 | g.32356559C>T | CA483260429 | BRCA2 | c.7567C>T (p.Leu2523=) c.7198C>T (p.Leu2400=) c.34C>T (p.Leu12=) c.132C>T n.7567C>T c.7471C>T (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356560T>A | CA387743769 | BRCA2 | c.7568T>A (p.Leu2523Gln) c.7199T>A (p.Leu2400Gln) c.35T>A (p.Leu12Gln) c.133T>A n.7568T>A c.7472T>A (p.Leu2491Gln) | dbSNP |
13 | g.32356560T>C | CA16619765 | BRCA2 | c.7568T>C (p.Leu2523Pro) c.7199T>C (p.Leu2400Pro) c.35T>C (p.Leu12Pro) c.133T>C n.7568T>C c.7472T>C (p.Leu2491Pro) | ClinVar dbSNP |
13 | g.32356560T>G | CA387743772 | BRCA2 | c.7568T>G (p.Leu2523Arg) c.7199T>G (p.Leu2400Arg) c.35T>G (p.Leu12Arg) c.133T>G n.7568T>G c.7472T>G (p.Leu2491Arg) | |
13 | g.32356560T= | CA2082815254 | BRCA2 | c.7568T= (p.Leu2523=) c.7199T= (p.Leu2400=) c.35T= (p.Leu12=) c.133T= n.7568T= c.7472T= (p.Leu2491=) | |
13 | g.32356560dup | CA913189209 | BRCA2 | c.7568dup (p.Lys2524GlufsTer15) c.7199dup (p.Lys2401GlufsTer15) c.35dup (p.Lys13GlufsTer15) c.133dup n.7568dup c.7472dup (p.Lys2492GlufsTer15) | ClinVar dbSNP |
13 | g.32356561G>A | CA025158 | BRCA2 | c.7569G>A (p.Leu2523=) c.7200G>A (p.Leu2400=) c.36G>A (p.Leu12=) c.134G>A n.7569G>A c.7473G>A (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356561G>C | CA483260430 | BRCA2 | c.7569G>C (p.Leu2523=) c.7200G>C (p.Leu2400=) c.36G>C (p.Leu12=) c.134G>C n.7569G>C c.7473G>C (p.Leu2491=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356561G= | CA2082815264 | BRCA2 | c.7569G= (p.Leu2523=) c.7200G= (p.Leu2400=) c.36G= (p.Leu12=) c.134G= n.7569G= c.7473G= (p.Leu2491=) | |
13 | g.32356561G>T | CA483260431 | BRCA2 | c.7569G>T (p.Leu2523=) c.7200G>T (p.Leu2400=) c.36G>T (p.Leu12=) c.134G>T n.7569G>T c.7473G>T (p.Leu2491=) | |
13 | g.32356562A= | CA2082815277 | BRCA2 | c.7570A= (p.Lys2524=) c.7201A= (p.Lys2401=) c.37A= (p.Lys13=) c.135A= n.7570A= c.7474A= (p.Lys2492=) | |
13 | g.32356562A>C | CA387743781 | BRCA2 | c.7570A>C (p.Lys2524Gln) c.7201A>C (p.Lys2401Gln) c.37A>C (p.Lys13Gln) c.135A>C n.7570A>C c.7474A>C (p.Lys2492Gln) | |
13 | g.32356562A>G | CA387743776 | BRCA2 | c.7570A>G (p.Lys2524Glu) c.7201A>G (p.Lys2401Glu) c.37A>G (p.Lys13Glu) c.135A>G n.7570A>G c.7474A>G (p.Lys2492Glu) | ClinVar dbSNP |
13 | g.32356562A>T | CA387743779 | BRCA2 | c.7570A>T (p.Lys2524Ter) c.7201A>T (p.Lys2401Ter) c.37A>T (p.Lys13Ter) c.135A>T n.7570A>T c.7474A>T (p.Lys2492Ter) | ClinVar dbSNP |
13 | g.32356564dup | CA915946871 | BRCA2 | c.7572dup (p.Ala2525SerfsTer14) c.7203dup (p.Ala2402SerfsTer14) c.39dup (p.Ala14SerfsTer14) c.137dup n.7572dup c.7476dup (p.Ala2493SerfsTer14) | ClinVar dbSNP |
13 | g.32356563A>C | CA387743783 | BRCA2 | c.7571A>C (p.Lys2524Thr) c.7202A>C (p.Lys2401Thr) c.38A>C (p.Lys13Thr) c.136A>C n.7571A>C c.7475A>C (p.Lys2492Thr) | |
13 | g.32356563A>G | CA387743784 | BRCA2 | c.7571A>G (p.Lys2524Arg) c.7202A>G (p.Lys2401Arg) c.38A>G (p.Lys13Arg) c.136A>G n.7571A>G c.7475A>G (p.Lys2492Arg) | COSMIC COSMIC |
13 | g.32356563A>T | CA387743787 | BRCA2 | c.7571A>T (p.Lys2524Ile) c.7202A>T (p.Lys2401Ile) c.38A>T (p.Lys13Ile) c.136A>T n.7571A>T c.7475A>T (p.Lys2492Ile) | dbSNP |
13 | g.32356564A>C | CA387743790 | BRCA2 | c.7572A>C (p.Lys2524Asn) c.7203A>C (p.Lys2401Asn) c.39A>C (p.Lys13Asn) c.137A>C n.7572A>C c.7476A>C (p.Lys2492Asn) | |
13 | g.32356564A>G | CA483260432 | BRCA2 | c.7572A>G (p.Lys2524=) c.7203A>G (p.Lys2401=) c.39A>G (p.Lys13=) c.137A>G n.7572A>G c.7476A>G (p.Lys2492=) | |
13 | g.32356564A>T | CA387743792 | BRCA2 | c.7572A>T (p.Lys2524Asn) c.7203A>T (p.Lys2401Asn) c.39A>T (p.Lys13Asn) c.137A>T n.7572A>T c.7476A>T (p.Lys2492Asn) | ClinVar dbSNP |
13 | g.32356565G>A | CA025160 | BRCA2 | c.7573G>A (p.Ala2525Thr) c.7204G>A (p.Ala2402Thr) c.40G>A (p.Ala14Thr) c.138G>A n.7573G>A c.7477G>A (p.Ala2493Thr) | ClinVar dbSNP |
13 | g.32356565G>C | CA387743799 | BRCA2 | c.7573G>C (p.Ala2525Pro) c.7204G>C (p.Ala2402Pro) c.40G>C (p.Ala14Pro) c.138G>C n.7573G>C c.7477G>C (p.Ala2493Pro) | ClinVar dbSNP |
13 | g.32356565G= | CA2082815291 | BRCA2 | c.7573G= (p.Ala2525=) c.7204G= (p.Ala2402=) c.40G= (p.Ala14=) c.138G= n.7573G= c.7477G= (p.Ala2493=) | |
13 | g.32356565G>T | CA387743796 | BRCA2 | c.7573G>T (p.Ala2525Ser) c.7204G>T (p.Ala2402Ser) c.40G>T (p.Ala14Ser) c.138G>T n.7573G>T c.7477G>T (p.Ala2493Ser) | |
13 | g.32356565_32356566del | CA2499222296 | BRCA2 | c.7573_7574del (p.Ala2525SerfsTer13) c.7204_7205del (p.Ala2402SerfsTer13) c.40_41del (p.Ala14SerfsTer13) c.138_139del n.7573_7574del c.7477_7478del (p.Ala2493SerfsTer13) | |
13 | g.32356566C>A | CA387743801 | BRCA2 | c.7574C>A (p.Ala2525Glu) c.7205C>A (p.Ala2402Glu) c.41C>A (p.Ala14Glu) c.139C>A n.7574C>A c.7478C>A (p.Ala2493Glu) | |
13 | g.32356566C>G | CA387743802 | BRCA2 | c.7574C>G (p.Ala2525Gly) c.7205C>G (p.Ala2402Gly) c.41C>G (p.Ala14Gly) c.139C>G n.7574C>G c.7478C>G (p.Ala2493Gly) | |
13 | g.32356566C>T | CA387743804 | BRCA2 | c.7574C>T (p.Ala2525Val) c.7205C>T (p.Ala2402Val) c.41C>T (p.Ala14Val) c.139C>T n.7574C>T c.7478C>T (p.Ala2493Val) | |
13 | g.32356566_32356567delinsCA | CA2082815294 | BRCA2 | c.7574_7575delinsCA (p.Ala2525=) c.7205_7206delinsCA (p.Ala2402=) c.41_42delinsCA (p.Ala14=) c.139_140delinsCA n.7574_7575delinsCA c.7478_7479delinsCA (p.Ala2493=) | |
13 | g.32356567del | CA10576071 | BRCA2 | c.7575del (p.Ala2526GlnfsTer2) c.7206del (p.Ala2403GlnfsTer2) c.42del (p.Ala15GlnfsTer2) c.140del n.7575del c.7479del (p.Ala2494GlnfsTer2) | ClinVar dbSNP |
13 | g.32356567A>C | CA483260435 | BRCA2 | c.7575A>C (p.Ala2525=) c.7206A>C (p.Ala2402=) c.42A>C (p.Ala14=) c.140A>C n.7575A>C c.7479A>C (p.Ala2493=) | |
13 | g.32356567A>G | CA483260434 | BRCA2 | c.7575A>G (p.Ala2525=) c.7206A>G (p.Ala2402=) c.42A>G (p.Ala14=) c.140A>G n.7575A>G c.7479A>G (p.Ala2493=) | |
13 | g.32356567A>T | CA483260433 | BRCA2 | c.7575A>T (p.Ala2525=) c.7206A>T (p.Ala2402=) c.42A>T (p.Ala14=) c.140A>T n.7575A>T c.7479A>T (p.Ala2493=) | ClinVar dbSNP gnomAD v4 |