Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
13 | g.32363288_32363304delinsTTGAGCGCAAATATATC | CA2082835215 | BRCA2 | c.8086_8102delinsTTGAGCGCAAATATATC (p.Leu2696=) c.7717_7733delinsTTGAGCGCAAATATATC (p.Leu2573=) c.553_569delinsTTGAGCGCAAATATATC (p.Leu185=) c.8094_8110delinsTTGAGCGCAAATATATC (n.8094_8110delinsTTGAGCGCAAATATATC) c.651_667delinsTTGAGCGCAAATATATC c.7990_8006delinsTTGAGCGCAAATATATC (p.Leu2664=) | |
13 | g.32363292_32363307del | CA645509332 | BRCA2 | c.8090_8105del (p.Ser2697LysfsTer?) c.7721_7736del (p.Ser2574LysfsTer?) c.557_572del (p.Ser186LysfsTer?) c.8098_8113del (n.8098_8113del) c.655_670del c.7994_8009del (p.Ser2665LysfsTer?) | ClinVar dbSNP COSMIC |
13 | g.32363301_32363315del | CA2697551769 | BRCA2 | c.8099_8113del (p.Ile2700_Ser2704del) c.7730_7744del (p.Ile2577_Ser2581del) c.566_580del (p.Ile189_Ser193del) c.8107_8121del (n.8107_8121del) c.664_678del c.8003_8017del (p.Ile2668_Ser2672del) | ClinVar |
13 | g.32363300A= | CA2082835288 | BRCA2 | c.8098A= (p.Ile2700=) c.7729A= (p.Ile2577=) c.565A= (p.Ile189=) c.8106A= (n.8106A=) c.663A= c.8002A= (p.Ile2668=) | |
13 | g.32363300A>C | CA025452 | BRCA2 | c.8098A>C (p.Ile2700Leu) c.7729A>C (p.Ile2577Leu) c.565A>C (p.Ile189Leu) c.8106A>C (n.8106A>C) c.663A>C c.8002A>C (p.Ile2668Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363300A>G | CA6941187 | BRCA2 | c.8098A>G (p.Ile2700Val) c.7729A>G (p.Ile2577Val) c.565A>G (p.Ile189Val) c.8106A>G (n.8106A>G) c.663A>G c.8002A>G (p.Ile2668Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363300A>T | CA387749299 | BRCA2 | c.8098A>T (p.Ile2700Leu) c.7729A>T (p.Ile2577Leu) c.565A>T (p.Ile189Leu) c.8106A>T (n.8106A>T) c.663A>T c.8002A>T (p.Ile2668Leu) | dbSNP |
13 | g.32363301del | CA2573053825 | BRCA2 | c.8099del (p.Ile2700AsnfsTer?) c.7730del (p.Ile2577AsnfsTer?) c.566del (p.Ile189AsnfsTer?) c.8107del (n.8107del) c.664del c.8003del (p.Ile2668AsnfsTer?) | ClinVar dbSNP |
13 | g.32363301T>A | CA387749301 | BRCA2 | c.8099T>A (p.Ile2700Lys) c.7730T>A (p.Ile2577Lys) c.566T>A (p.Ile189Lys) c.8107T>A (n.8107T>A) c.664T>A c.8003T>A (p.Ile2668Lys) | ClinVar dbSNP |
13 | g.32363301T>C | CA025453 | BRCA2 | c.8099T>C (p.Ile2700Thr) c.7730T>C (p.Ile2577Thr) c.566T>C (p.Ile189Thr) c.8107T>C (n.8107T>C) c.664T>C c.8003T>C (p.Ile2668Thr) | ClinVar dbSNP |
13 | g.32363301T>G | CA387749302 | BRCA2 | c.8099T>G (p.Ile2700Arg) c.7730T>G (p.Ile2577Arg) c.566T>G (p.Ile189Arg) c.8107T>G (n.8107T>G) c.664T>G c.8003T>G (p.Ile2668Arg) | |
13 | g.32363301T= | CA2082835293 | BRCA2 | c.8099T= (p.Ile2700=) c.7730T= (p.Ile2577=) c.566T= (p.Ile189=) c.8107T= (n.8107T=) c.664T= c.8003T= (p.Ile2668=) | |
13 | g.32363301dup | CA2739277542 | BRCA2 | c.8099dup (p.Ser2701IlefsTer2) c.7730dup (p.Ser2578IlefsTer2) c.566dup (p.Ser190IlefsTer2) c.8107dup (n.8107dup) c.664dup c.8003dup (p.Ser2669IlefsTer2) | ClinVar |
13 | g.32363302A= | CA2082835303 | BRCA2 | c.8100A= (p.Ile2700=) c.7731A= (p.Ile2577=) c.567A= (p.Ile189=) c.8108A= (n.8108A=) c.665A= c.8004A= (p.Ile2668=) | |
13 | g.32363302A>C | CA483439596 | BRCA2 | c.8100A>C (p.Ile2700=) c.7731A>C (p.Ile2577=) c.567A>C (p.Ile189=) c.8108A>C (n.8108A>C) c.665A>C c.8004A>C (p.Ile2668=) | |
13 | g.32363302A>G | CA387749304 | BRCA2 | c.8100A>G (p.Ile2700Met) c.7731A>G (p.Ile2577Met) c.567A>G (p.Ile189Met) c.8108A>G (n.8108A>G) c.665A>G c.8004A>G (p.Ile2668Met) | ClinVar dbSNP |
13 | g.32363302A>T | CA483439600 | BRCA2 | c.8100A>T (p.Ile2700=) c.7731A>T (p.Ile2577=) c.567A>T (p.Ile189=) c.8108A>T (n.8108A>T) c.665A>T c.8004A>T (p.Ile2668=) | dbSNP |
13 | g.32363303T>A | CA387749306 | BRCA2 | c.8101T>A (p.Ser2701Thr) c.7732T>A (p.Ser2578Thr) c.568T>A (p.Ser190Thr) c.8109T>A (n.8109T>A) c.666T>A c.8005T>A (p.Ser2669Thr) | dbSNP |
13 | g.32363303T>C | CA025455 | BRCA2 | c.8101T>C (p.Ser2701Pro) c.7732T>C (p.Ser2578Pro) c.568T>C (p.Ser190Pro) c.8109T>C (n.8109T>C) c.666T>C c.8005T>C (p.Ser2669Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32363303T>G | CA387749309 | BRCA2 | c.8101T>G (p.Ser2701Ala) c.7732T>G (p.Ser2578Ala) c.568T>G (p.Ser190Ala) c.8109T>G (n.8109T>G) c.666T>G c.8005T>G (p.Ser2669Ala) | |
13 | g.32363303T= | CA2082835315 | BRCA2 | c.8101T= (p.Ser2701=) c.7732T= (p.Ser2578=) c.568T= (p.Ser190=) c.8109T= (n.8109T=) c.666T= c.8005T= (p.Ser2669=) | |
13 | g.32363304C>A | CA387749311 | BRCA2 | c.8102C>A (p.Ser2701Tyr) c.7733C>A (p.Ser2578Tyr) c.569C>A (p.Ser190Tyr) c.8110C>A (n.8110C>A) c.667C>A c.8006C>A (p.Ser2669Tyr) | |
13 | g.32363304C= | CA2082835326 | BRCA2 | c.8102C= (p.Ser2701=) c.7733C= (p.Ser2578=) c.569C= (p.Ser190=) c.8110C= (n.8110C=) c.667C= c.8006C= (p.Ser2669=) | |
13 | g.32363304C>G | CA10579767 | BRCA2 | c.8102C>G (p.Ser2701Cys) c.7733C>G (p.Ser2578Cys) c.569C>G (p.Ser190Cys) c.8110C>G (n.8110C>G) c.667C>G c.8006C>G (p.Ser2669Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363304C>T | CA387749314 | BRCA2 | c.8102C>T (p.Ser2701Phe) c.7733C>T (p.Ser2578Phe) c.569C>T (p.Ser190Phe) c.8110C>T (n.8110C>T) c.667C>T c.8006C>T (p.Ser2669Phe) | ClinVar dbSNP |
13 | g.32363305T>A | CA483439601 | BRCA2 | c.8103T>A (p.Ser2701=) c.7734T>A (p.Ser2578=) c.570T>A (p.Ser190=) c.8111T>A (n.8111T>A) c.668T>A c.8007T>A (p.Ser2669=) | dbSNP |
13 | g.32363305T>C | CA483439602 | BRCA2 | c.8103T>C (p.Ser2701=) c.7734T>C (p.Ser2578=) c.570T>C (p.Ser190=) c.8111T>C (n.8111T>C) c.668T>C c.8007T>C (p.Ser2669=) | ClinVar dbSNP |
13 | g.32363305T>G | CA025456 | BRCA2 | c.8103T>G (p.Ser2701=) c.7734T>G (p.Ser2578=) c.570T>G (p.Ser190=) c.8111T>G (n.8111T>G) c.668T>G c.8007T>G (p.Ser2669=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363305T= | CA2082835333 | BRCA2 | c.8103T= (p.Ser2701=) c.7734T= (p.Ser2578=) c.570T= (p.Ser190=) c.8111T= (n.8111T=) c.668T= c.8007T= (p.Ser2669=) | |
13 | g.32363306G>A | CA387749317 | BRCA2 | c.8104G>A (p.Glu2702Lys) c.7735G>A (p.Glu2579Lys) c.571G>A (p.Glu191Lys) c.8112G>A (n.8112G>A) c.669G>A c.8008G>A (p.Glu2670Lys) | ClinVar dbSNP |
13 | g.32363306G>C | CA247477685 | BRCA2 | c.8104G>C (p.Glu2702Gln) c.7735G>C (p.Glu2579Gln) c.571G>C (p.Glu191Gln) c.8112G>C (n.8112G>C) c.669G>C c.8008G>C (p.Glu2670Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363306G= | CA2082835360 | BRCA2 | c.8104G= (p.Glu2702=) c.7735G= (p.Glu2579=) c.571G= (p.Glu191=) c.8112G= (n.8112G=) c.669G= c.8008G= (p.Glu2670=) | |
13 | g.32363306G>T | CA387749319 | BRCA2 | c.8104G>T (p.Glu2702Ter) c.7735G>T (p.Glu2579Ter) c.571G>T (p.Glu191Ter) c.8112G>T (n.8112G>T) c.669G>T c.8008G>T (p.Glu2670Ter) | |
13 | g.32363307A>C | CA387749321 | BRCA2 | c.8105A>C (p.Glu2702Ala) c.7736A>C (p.Glu2579Ala) c.572A>C (p.Glu191Ala) c.8113A>C (n.8113A>C) c.670A>C c.8009A>C (p.Glu2670Ala) | |
13 | g.32363307A>G | CA387749323 | BRCA2 | c.8105A>G (p.Glu2702Gly) c.7736A>G (p.Glu2579Gly) c.572A>G (p.Glu191Gly) c.8113A>G (n.8113A>G) c.670A>G c.8009A>G (p.Glu2670Gly) | |
13 | g.32363307A>T | CA387749320 | BRCA2 | c.8105A>T (p.Glu2702Val) c.7736A>T (p.Glu2579Val) c.572A>T (p.Glu191Val) c.8113A>T (n.8113A>T) c.670A>T c.8009A>T (p.Glu2670Val) | dbSNP |
13 | g.32363308A>C | CA387749326 | BRCA2 | c.8106A>C (p.Glu2702Asp) c.7737A>C (p.Glu2579Asp) c.573A>C (p.Glu191Asp) c.8114A>C (n.8114A>C) c.671A>C c.8010A>C (p.Glu2670Asp) | |
13 | g.32363308A>G | CA483439607 | BRCA2 | c.8106A>G (p.Glu2702=) c.7737A>G (p.Glu2579=) c.573A>G (p.Glu191=) c.8114A>G (n.8114A>G) c.671A>G c.8010A>G (p.Glu2670=) | ClinVar |
13 | g.32363308A>T | CA387749327 | BRCA2 | c.8106A>T (p.Glu2702Asp) c.7737A>T (p.Glu2579Asp) c.573A>T (p.Glu191Asp) c.8114A>T (n.8114A>T) c.671A>T c.8010A>T (p.Glu2670Asp) | dbSNP |
13 | g.32363309A>C | CA387749330 | BRCA2 | c.8107A>C (p.Thr2703Pro) c.7738A>C (p.Thr2580Pro) c.574A>C (p.Thr192Pro) c.8115A>C (n.8115A>C) c.672A>C c.8011A>C (p.Thr2671Pro) | dbSNP |
13 | g.32363309A>G | CA387749332 | BRCA2 | c.8107A>G (p.Thr2703Ala) c.7738A>G (p.Thr2580Ala) c.574A>G (p.Thr192Ala) c.8115A>G (n.8115A>G) c.672A>G c.8011A>G (p.Thr2671Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32363309A>T | CA387749333 | BRCA2 | c.8107A>T (p.Thr2703Ser) c.7738A>T (p.Thr2580Ser) c.574A>T (p.Thr192Ser) c.8115A>T (n.8115A>T) c.672A>T c.8011A>T (p.Thr2671Ser) | dbSNP |
13 | g.32363310C>A | CA387749339 | BRCA2 | c.8108C>A (p.Thr2703Asn) c.7739C>A (p.Thr2580Asn) c.575C>A (p.Thr192Asn) c.8116C>A (n.8116C>A) c.673C>A c.8012C>A (p.Thr2671Asn) | ClinVar dbSNP |
13 | g.32363310C>G | CA387749337 | BRCA2 | c.8108C>G (p.Thr2703Ser) c.7739C>G (p.Thr2580Ser) c.575C>G (p.Thr192Ser) c.8116C>G (n.8116C>G) c.673C>G c.8012C>G (p.Thr2671Ser) | dbSNP |
13 | g.32363310C>T | CA387749335 | BRCA2 | c.8108C>T (p.Thr2703Ile) c.7739C>T (p.Thr2580Ile) c.575C>T (p.Thr192Ile) c.8116C>T (n.8116C>T) c.673C>T c.8012C>T (p.Thr2671Ile) | |
13 | g.32363311T>A | CA483439611 | BRCA2 | c.8109T>A (p.Thr2703=) c.7740T>A (p.Thr2580=) c.576T>A (p.Thr192=) c.8117T>A (n.8117T>A) c.674T>A c.8013T>A (p.Thr2671=) | dbSNP |
13 | g.32363311T>C | CA483439610 | BRCA2 | c.8109T>C (p.Thr2703=) c.7740T>C (p.Thr2580=) c.576T>C (p.Thr192=) c.8117T>C (n.8117T>C) c.674T>C c.8013T>C (p.Thr2671=) | dbSNP |
13 | g.32363311T>G | CA483439609 | BRCA2 | c.8109T>G (p.Thr2703=) c.7740T>G (p.Thr2580=) c.576T>G (p.Thr192=) c.8117T>G (n.8117T>G) c.674T>G c.8013T>G (p.Thr2671=) | gnomAD v4 |
13 | g.32363311_32363319delinsTTCTAGCAA | CA2082835393 | BRCA2 | c.8109_8117delinsTTCTAGCAA (p.Thr2703=) c.7740_7748delinsTTCTAGCAA (p.Thr2580=) c.576_584delinsTTCTAGCAA (p.Thr192=) c.8117_8125delinsTTCTAGCAA (n.8117_8125delinsTTCTAGCAA) c.674_682delinsTTCTAGCAA c.8013_8021delinsTTCTAGCAA (p.Thr2671=) | |
13 | g.32363311_32363312insGAAAACAAAAA | CA2554986632 | BRCA2 | c.8109_8110insGAAAACAAAAA (p.Ser2704GlufsTer33) c.7740_7741insGAAAACAAAAA (p.Ser2581GlufsTer33) c.576_577insGAAAACAAAAA (p.Ser193GlufsTer33) c.8117_8118insGAAAACAAAAA (n.8117_8118insGAAAACAAAAA) c.674_675insGAAAACAAAAA c.8013_8014insGAAAACAAAAA (p.Ser2672GlufsTer33) | |
13 | g.32363312T>A | CA387749343 | BRCA2 | c.8110T>A (p.Ser2704Thr) c.7741T>A (p.Ser2581Thr) c.577T>A (p.Ser193Thr) c.8118T>A (n.8118T>A) c.675T>A c.8014T>A (p.Ser2672Thr) | |
13 | g.32363312T>C | CA6941188 | BRCA2 | c.8110T>C (p.Ser2704Pro) c.7741T>C (p.Ser2581Pro) c.577T>C (p.Ser193Pro) c.8118T>C (n.8118T>C) c.675T>C c.8014T>C (p.Ser2672Pro) | dbSNP ExAC gnomAD v2 |
13 | g.32363312T>G | CA387749348 | BRCA2 | c.8110T>G (p.Ser2704Ala) c.7741T>G (p.Ser2581Ala) c.577T>G (p.Ser193Ala) c.8118T>G (n.8118T>G) c.675T>G c.8014T>G (p.Ser2672Ala) | |
13 | g.32363312T= | CA2082835408 | BRCA2 | c.8110T= (p.Ser2704=) c.7741T= (p.Ser2581=) c.577T= (p.Ser193=) c.8118T= (n.8118T=) c.675T= c.8014T= (p.Ser2672=) | |
13 | g.32363312_32363313delinsTC | CA2082835409 | BRCA2 | c.8110_8111delinsTC (p.Ser2704=) c.7741_7742delinsTC (p.Ser2581=) c.577_578delinsTC (p.Ser193=) c.8118_8119delinsTC (n.8118_8119delinsTC) c.675_676delinsTC c.8014_8015delinsTC (p.Ser2672=) | |
13 | g.32363313_32363320del | CA658823762 | BRCA2 | c.8111_8118del (p.Ser2704Ter) c.7742_7749del (p.Ser2581Ter) c.578_585del (p.Ser193Ter) c.8119_8126del (n.8119_8126del) c.676_683del c.8015_8022del (p.Ser2672Ter) | ClinVar dbSNP |
13 | g.32363312_32363313insAGCAATAAAACTAGTAGTGCAGCTGAAAC | CA2573149379 | BRCA2 | c.8110_8111insAGCAATAAAACTAGTAGTGCAGCTGAAAC (p.Ser2704Ter) c.7741_7742insAGCAATAAAACTAGTAGTGCAGCTGAAAC (p.Ser2581Ter) c.577_578insAGCAATAAAACTAGTAGTGCAGCTGAAAC (p.Ser193Ter) c.8118_8119insAGCAATAAAACTAGTAGTGCAGCTGAAAC (n.8118_8119insAGCAATAAAACTAGTAGTGCAGCTGAAAC) c.675_676insAGCAATAAAACTAGTAGTGCAGCTGAAAC c.8014_8015insAGCAATAAAACTAGTAGTGCAGCTGAAAC (p.Ser2672Ter) | ClinVar dbSNP |
13 | g.32363313C>A | CA387749352 | BRCA2 | c.8111C>A (p.Ser2704Tyr) c.7742C>A (p.Ser2581Tyr) c.578C>A (p.Ser193Tyr) c.8119C>A (n.8119C>A) c.676C>A c.8015C>A (p.Ser2672Tyr) | dbSNP |
13 | g.32363313C= | CA2082835426 | BRCA2 | c.8111C= (p.Ser2704=) c.7742C= (p.Ser2581=) c.578C= (p.Ser193=) c.8119C= (n.8119C=) c.676C= c.8015C= (p.Ser2672=) | |
13 | g.32363313C>G | CA387749354 | BRCA2 | c.8111C>G (p.Ser2704Cys) c.7742C>G (p.Ser2581Cys) c.578C>G (p.Ser193Cys) c.8119C>G (n.8119C>G) c.676C>G c.8015C>G (p.Ser2672Cys) | gnomAD v4 |
13 | g.32363313C>T | CA025457 | BRCA2 | c.8111C>T (p.Ser2704Phe) c.7742C>T (p.Ser2581Phe) c.578C>T (p.Ser193Phe) c.8119C>T (n.8119C>T) c.676C>T c.8015C>T (p.Ser2672Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32363313delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT | CA915946890 | BRCA2 | c.8111delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser2704Ter) c.7742delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser2581Ter) c.578delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser193Ter) c.8119delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (n.8119delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT) c.676delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT c.8015delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT (p.Ser2672Ter) | ClinVar dbSNP |
13 | g.32363314T>A | CA483439616 | BRCA2 | c.8112T>A (p.Ser2704=) c.7743T>A (p.Ser2581=) c.579T>A (p.Ser193=) c.8120T>A (n.8120T>A) c.677T>A c.8016T>A (p.Ser2672=) | dbSNP |
13 | g.32363314T>C | CA483439615 | BRCA2 | c.8112T>C (p.Ser2704=) c.7743T>C (p.Ser2581=) c.579T>C (p.Ser193=) c.8120T>C (n.8120T>C) c.677T>C c.8016T>C (p.Ser2672=) | ClinVar |
13 | g.32363314T>G | CA483439614 | BRCA2 | c.8112T>G (p.Ser2704=) c.7743T>G (p.Ser2581=) c.579T>G (p.Ser193=) c.8120T>G (n.8120T>G) c.677T>G c.8016T>G (p.Ser2672=) | |
13 | g.32363314T= | CA2082835443 | BRCA2 | c.8112T= (p.Ser2704=) c.7743T= (p.Ser2581=) c.579T= (p.Ser193=) c.8120T= (n.8120T=) c.677T= c.8016T= (p.Ser2672=) | |
13 | g.32363315A= | CA2082835460 | BRCA2 | c.8113A= (p.Ser2705=) c.7744A= (p.Ser2582=) c.580A= (p.Ser194=) c.8121A= (n.8121A=) c.678A= c.8017A= (p.Ser2673=) | |
13 | g.32363315A>C | CA387749356 | BRCA2 | c.8113A>C (p.Ser2705Arg) c.7744A>C (p.Ser2582Arg) c.580A>C (p.Ser194Arg) c.8121A>C (n.8121A>C) c.678A>C c.8017A>C (p.Ser2673Arg) | |
13 | g.32363315A>G | CA6941189 | BRCA2 | c.8113A>G (p.Ser2705Gly) c.7744A>G (p.Ser2582Gly) c.580A>G (p.Ser194Gly) c.8121A>G (n.8121A>G) c.678A>G c.8017A>G (p.Ser2673Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363315A>T | CA387749358 | BRCA2 | c.8113A>T (p.Ser2705Cys) c.7744A>T (p.Ser2582Cys) c.580A>T (p.Ser194Cys) c.8121A>T (n.8121A>T) c.678A>T c.8017A>T (p.Ser2673Cys) | dbSNP |
13 | g.32363315dup | CA10589468 | BRCA2 | c.8113dup (p.Ser2705LysfsTer3) c.7744dup (p.Ser2582LysfsTer3) c.580dup (p.Ser194LysfsTer3) c.8121dup (n.8121dup) c.678dup c.8017dup (p.Ser2673LysfsTer3) | ClinVar dbSNP |
13 | g.32363316G>A | CA387749361 | BRCA2 | c.8114G>A (p.Ser2705Asn) c.7745G>A (p.Ser2582Asn) c.581G>A (p.Ser194Asn) c.8122G>A (n.8122G>A) c.679G>A c.8018G>A (p.Ser2673Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32363316G>C | CA387749364 | BRCA2 | c.8114G>C (p.Ser2705Thr) c.7745G>C (p.Ser2582Thr) c.581G>C (p.Ser194Thr) c.8122G>C (n.8122G>C) c.679G>C c.8018G>C (p.Ser2673Thr) | dbSNP gnomAD v4 |
13 | g.32363316G= | CA2082835479 | BRCA2 | c.8114G= (p.Ser2705=) c.7745G= (p.Ser2582=) c.581G= (p.Ser194=) c.8122G= (n.8122G=) c.679G= c.8018G= (p.Ser2673=) | |
13 | g.32363316G>T | CA6941190 | BRCA2 | c.8114G>T (p.Ser2705Ile) c.7745G>T (p.Ser2582Ile) c.581G>T (p.Ser194Ile) c.8122G>T (n.8122G>T) c.679G>T c.8018G>T (p.Ser2673Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363317C>A | CA387749368 | BRCA2 | c.8115C>A (p.Ser2705Arg) c.7746C>A (p.Ser2582Arg) c.582C>A (p.Ser194Arg) c.8123C>A (n.8123C>A) c.680C>A c.8019C>A (p.Ser2673Arg) | |
13 | g.32363317C= | CA2082835488 | BRCA2 | c.8115C= (p.Ser2705=) c.7746C= (p.Ser2582=) c.582C= (p.Ser194=) c.8123C= (n.8123C=) c.680C= c.8019C= (p.Ser2673=) | |
13 | g.32363317C>G | CA025458 | BRCA2 | c.8115C>G (p.Ser2705Arg) c.7746C>G (p.Ser2582Arg) c.582C>G (p.Ser194Arg) c.8123C>G (n.8123C>G) c.680C>G c.8019C>G (p.Ser2673Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363317C>T | CA483439624 | BRCA2 | c.8115C>T (p.Ser2705=) c.7746C>T (p.Ser2582=) c.582C>T (p.Ser194=) c.8123C>T (n.8123C>T) c.680C>T c.8019C>T (p.Ser2673=) | |
13 | g.32363318A= | CA2082835500 | BRCA2 | c.8116A= (p.Asn2706=) c.7747A= (p.Asn2583=) c.583A= (p.Asn195=) c.8124A= (n.8124A=) c.681A= c.8020A= (p.Asn2674=) | |
13 | g.32363318A>C | CA387749370 | BRCA2 | c.8116A>C (p.Asn2706His) c.7747A>C (p.Asn2583His) c.583A>C (p.Asn195His) c.8124A>C (n.8124A>C) c.681A>C c.8020A>C (p.Asn2674His) | |
13 | g.32363318A>G | CA387749371 | BRCA2 | c.8116A>G (p.Asn2706Asp) c.7747A>G (p.Asn2583Asp) c.583A>G (p.Asn195Asp) c.8124A>G (n.8124A>G) c.681A>G c.8020A>G (p.Asn2674Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363318A>T | CA387749372 | BRCA2 | c.8116A>T (p.Asn2706Tyr) c.7747A>T (p.Asn2583Tyr) c.583A>T (p.Asn195Tyr) c.8124A>T (n.8124A>T) c.681A>T c.8020A>T (p.Asn2674Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363319del | CA2825002150 | BRCA2 | c.8117del (p.Asn2706IlefsTer27) c.7748del (p.Asn2583IlefsTer27) c.584del (p.Asn195IlefsTer27) c.8125del (n.8125del) c.682del c.8021del (p.Asn2674IlefsTer27) | ClinVar |
13 | g.32363319A= | CA2082835505 | BRCA2 | c.8117A= (p.Asn2706=) c.7748A= (p.Asn2583=) c.584A= (p.Asn195=) c.8125A= (n.8125A=) c.682A= c.8021A= (p.Asn2674=) | |
13 | g.32363319A>C | CA387749374 | BRCA2 | c.8117A>C (p.Asn2706Thr) c.7748A>C (p.Asn2583Thr) c.584A>C (p.Asn195Thr) c.8125A>C (n.8125A>C) c.682A>C c.8021A>C (p.Asn2674Thr) | |
13 | g.32363319A>G | CA025459 | BRCA2 | c.8117A>G (p.Asn2706Ser) c.7748A>G (p.Asn2583Ser) c.584A>G (p.Asn195Ser) c.8125A>G (n.8125A>G) c.682A>G c.8021A>G (p.Asn2674Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363319A>T | CA387749376 | BRCA2 | c.8117A>T (p.Asn2706Ile) c.7748A>T (p.Asn2583Ile) c.584A>T (p.Asn195Ile) c.8125A>T (n.8125A>T) c.682A>T c.8021A>T (p.Asn2674Ile) | dbSNP |
13 | g.32363320T>A | CA387749378 | BRCA2 | c.8118T>A (p.Asn2706Lys) c.7749T>A (p.Asn2583Lys) c.585T>A (p.Asn195Lys) c.8126T>A (n.8126T>A) c.683T>A c.8022T>A (p.Asn2674Lys) | |
13 | g.32363320T>C | CA025460 | BRCA2 | c.8118T>C (p.Asn2706=) c.7749T>C (p.Asn2583=) c.585T>C (p.Asn195=) c.8126T>C (n.8126T>C) c.683T>C c.8022T>C (p.Asn2674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363320T>G | CA387749380 | BRCA2 | c.8118T>G (p.Asn2706Lys) c.7749T>G (p.Asn2583Lys) c.585T>G (p.Asn195Lys) c.8126T>G (n.8126T>G) c.683T>G c.8022T>G (p.Asn2674Lys) | |
13 | g.32363320T= | CA2082835510 | BRCA2 | c.8118T= (p.Asn2706=) c.7749T= (p.Asn2583=) c.585T= (p.Asn195=) c.8126T= (n.8126T=) c.683T= c.8022T= (p.Asn2674=) | |
13 | g.32363321A= | CA2082835522 | BRCA2 | c.8119A= (p.Lys2707=) c.7750A= (p.Lys2584=) c.586A= (p.Lys196=) c.8127A= (n.8127A=) c.684A= c.8023A= (p.Lys2675=) | |
13 | g.32363321A>C | CA387749383 | BRCA2 | c.8119A>C (p.Lys2707Gln) c.7750A>C (p.Lys2584Gln) c.586A>C (p.Lys196Gln) c.8127A>C (n.8127A>C) c.684A>C c.8023A>C (p.Lys2675Gln) | |
13 | g.32363321A>G | CA247477722 | BRCA2 | c.8119A>G (p.Lys2707Glu) c.7750A>G (p.Lys2584Glu) c.586A>G (p.Lys196Glu) c.8127A>G (n.8127A>G) c.684A>G c.8023A>G (p.Lys2675Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363321A>T | CA387749385 | BRCA2 | c.8119A>T (p.Lys2707Ter) c.7750A>T (p.Lys2584Ter) c.586A>T (p.Lys196Ter) c.8127A>T (n.8127A>T) c.684A>T c.8023A>T (p.Lys2675Ter) | dbSNP |
13 | g.32363324del | CA2580610726 | BRCA2 | c.8122del (p.Thr2708LeufsTer25) c.7753del (p.Thr2585LeufsTer25) c.589del (p.Thr197LeufsTer25) c.8130del (n.8130del) c.687del c.8026del (p.Thr2676LeufsTer25) | |
13 | g.32363322A= | CA2082835535 | BRCA2 | c.8120A= (p.Lys2707=) c.7751A= (p.Lys2584=) c.587A= (p.Lys196=) c.8128A= (n.8128A=) c.685A= c.8024A= (p.Lys2675=) | |
13 | g.32363322A>C | CA387749386 | BRCA2 | c.8120A>C (p.Lys2707Thr) c.7751A>C (p.Lys2584Thr) c.587A>C (p.Lys196Thr) c.8128A>C (n.8128A>C) c.685A>C c.8024A>C (p.Lys2675Thr) | |
13 | g.32363322A>G | CA387749387 | BRCA2 | c.8120A>G (p.Lys2707Arg) c.7751A>G (p.Lys2584Arg) c.587A>G (p.Lys196Arg) c.8128A>G (n.8128A>G) c.685A>G c.8024A>G (p.Lys2675Arg) | ClinVar dbSNP |
13 | g.32363322A>T | CA387749388 | BRCA2 | c.8120A>T (p.Lys2707Ile) c.7751A>T (p.Lys2584Ile) c.587A>T (p.Lys196Ile) c.8128A>T (n.8128A>T) c.685A>T c.8024A>T (p.Lys2675Ile) | ClinVar dbSNP |
13 | g.32363323A>C | CA387749389 | BRCA2 | c.8121A>C (p.Lys2707Asn) c.7752A>C (p.Lys2584Asn) c.588A>C (p.Lys196Asn) c.8129A>C (n.8129A>C) c.686A>C c.8025A>C (p.Lys2675Asn) | |
13 | g.32363323A>G | CA483439636 | BRCA2 | c.8121A>G (p.Lys2707=) c.7752A>G (p.Lys2584=) c.588A>G (p.Lys196=) c.8129A>G (n.8129A>G) c.686A>G c.8025A>G (p.Lys2675=) | |
13 | g.32363323A>T | CA387749390 | BRCA2 | c.8121A>T (p.Lys2707Asn) c.7752A>T (p.Lys2584Asn) c.588A>T (p.Lys196Asn) c.8129A>T (n.8129A>T) c.686A>T c.8025A>T (p.Lys2675Asn) | dbSNP |
13 | g.32363324A= | CA2082835544 | BRCA2 | c.8122A= (p.Thr2708=) c.7753A= (p.Thr2585=) c.589A= (p.Thr197=) c.8130A= (n.8130A=) c.687A= c.8026A= (p.Thr2676=) | |
13 | g.32363324A>C | CA387749391 | BRCA2 | c.8122A>C (p.Thr2708Pro) c.7753A>C (p.Thr2585Pro) c.589A>C (p.Thr197Pro) c.8130A>C (n.8130A>C) c.687A>C c.8026A>C (p.Thr2676Pro) | dbSNP |
13 | g.32363324A>G | CA387749393 | BRCA2 | c.8122A>G (p.Thr2708Ala) c.7753A>G (p.Thr2585Ala) c.589A>G (p.Thr197Ala) c.8130A>G (n.8130A>G) c.687A>G c.8026A>G (p.Thr2676Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363324A>T | CA387749392 | BRCA2 | c.8122A>T (p.Thr2708Ser) c.7753A>T (p.Thr2585Ser) c.589A>T (p.Thr197Ser) c.8130A>T (n.8130A>T) c.687A>T c.8026A>T (p.Thr2676Ser) | ClinVar dbSNP |
13 | g.32363324_32363325insTACTT | CA2573149380 | BRCA2 | c.8122_8123insTACTT (p.Thr2708IlefsTer27) c.7753_7754insTACTT (p.Thr2585IlefsTer27) c.589_590insTACTT (p.Thr197IlefsTer27) c.8130_8131insTACTT (n.8130_8131insTACTT) c.687_688insTACTT c.8026_8027insTACTT (p.Thr2676IlefsTer27) | dbSNP |
13 | g.32363325C>A | CA387749394 | BRCA2 | c.8123C>A (p.Thr2708Asn) c.7754C>A (p.Thr2585Asn) c.590C>A (p.Thr197Asn) c.8131C>A (n.8131C>A) c.688C>A c.8027C>A (p.Thr2676Asn) | dbSNP |
13 | g.32363325C= | CA2082835560 | BRCA2 | c.8123C= (p.Thr2708=) c.7754C= (p.Thr2585=) c.590C= (p.Thr197=) c.8131C= (n.8131C=) c.688C= c.8027C= (p.Thr2676=) | |
13 | g.32363325C>G | CA387749395 | BRCA2 | c.8123C>G (p.Thr2708Ser) c.7754C>G (p.Thr2585Ser) c.590C>G (p.Thr197Ser) c.8131C>G (n.8131C>G) c.688C>G c.8027C>G (p.Thr2676Ser) | dbSNP |
13 | g.32363325C>T | CA387749396 | BRCA2 | c.8123C>T (p.Thr2708Ile) c.7754C>T (p.Thr2585Ile) c.590C>T (p.Thr197Ile) c.8131C>T (n.8131C>T) c.688C>T c.8027C>T (p.Thr2676Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32363326T>A | CA483439644 | BRCA2 | c.8124T>A (p.Thr2708=) c.7755T>A (p.Thr2585=) c.591T>A (p.Thr197=) c.8132T>A (n.8132T>A) c.689T>A c.8028T>A (p.Thr2676=) | dbSNP |
13 | g.32363326T>C | CA483439646 | BRCA2 | c.8124T>C (p.Thr2708=) c.7755T>C (p.Thr2585=) c.591T>C (p.Thr197=) c.8132T>C (n.8132T>C) c.689T>C c.8028T>C (p.Thr2676=) | ClinVar gnomAD v4 |
13 | g.32363326T>G | CA025462 | BRCA2 | c.8124T>G (p.Thr2708=) c.7755T>G (p.Thr2585=) c.591T>G (p.Thr197=) c.8132T>G (n.8132T>G) c.689T>G c.8028T>G (p.Thr2676=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363326T= | CA2082835569 | BRCA2 | c.8124T= (p.Thr2708=) c.7755T= (p.Thr2585=) c.591T= (p.Thr197=) c.8132T= (n.8132T=) c.689T= c.8028T= (p.Thr2676=) | |
13 | g.32363327A= | CA2082835578 | BRCA2 | c.8125A= (p.Ser2709=) c.7756A= (p.Ser2586=) c.592A= (p.Ser198=) c.8133A= (n.8133A=) c.690A= c.8029A= (p.Ser2677=) | |
13 | g.32363327A>C | CA387749401 | BRCA2 | c.8125A>C (p.Ser2709Arg) c.7756A>C (p.Ser2586Arg) c.592A>C (p.Ser198Arg) c.8133A>C (n.8133A>C) c.690A>C c.8029A>C (p.Ser2677Arg) | |
13 | g.32363327A>G | CA025463 | BRCA2 | c.8125A>G (p.Ser2709Gly) c.7756A>G (p.Ser2586Gly) c.592A>G (p.Ser198Gly) c.8133A>G (n.8133A>G) c.690A>G c.8029A>G (p.Ser2677Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363327A>T | CA387749403 | BRCA2 | c.8125A>T (p.Ser2709Cys) c.7756A>T (p.Ser2586Cys) c.592A>T (p.Ser198Cys) c.8133A>T (n.8133A>T) c.690A>T c.8029A>T (p.Ser2677Cys) | dbSNP |
13 | g.32363328G>A | CA387749406 | BRCA2 | c.8126G>A (p.Ser2709Asn) c.7757G>A (p.Ser2586Asn) c.593G>A (p.Ser198Asn) c.8134G>A (n.8134G>A) c.691G>A c.8030G>A (p.Ser2677Asn) | dbSNP |
13 | g.32363328G>C | CA387749408 | BRCA2 | c.8126G>C (p.Ser2709Thr) c.7757G>C (p.Ser2586Thr) c.593G>C (p.Ser198Thr) c.8134G>C (n.8134G>C) c.691G>C c.8030G>C (p.Ser2677Thr) | dbSNP |
13 | g.32363328G>T | CA387749409 | BRCA2 | c.8126G>T (p.Ser2709Ile) c.7757G>T (p.Ser2586Ile) c.593G>T (p.Ser198Ile) c.8134G>T (n.8134G>T) c.691G>T c.8030G>T (p.Ser2677Ile) | ClinVar |
13 | g.32363329T>A | CA387749411 | BRCA2 | c.8127T>A (p.Ser2709Arg) c.7758T>A (p.Ser2586Arg) c.594T>A (p.Ser198Arg) c.8135T>A (n.8135T>A) c.692T>A c.8031T>A (p.Ser2677Arg) | dbSNP |
13 | g.32363329T>C | CA483439653 | BRCA2 | c.8127T>C (p.Ser2709=) c.7758T>C (p.Ser2586=) c.594T>C (p.Ser198=) c.8135T>C (n.8135T>C) c.692T>C c.8031T>C (p.Ser2677=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363329T>G | CA387749412 | BRCA2 | c.8127T>G (p.Ser2709Arg) c.7758T>G (p.Ser2586Arg) c.594T>G (p.Ser198Arg) c.8135T>G (n.8135T>G) c.692T>G c.8031T>G (p.Ser2677Arg) | |
13 | g.32363329T= | CA2082835579 | BRCA2 | c.8127T= (p.Ser2709=) c.7758T= (p.Ser2586=) c.594T= (p.Ser198=) c.8135T= (n.8135T=) c.692T= c.8031T= (p.Ser2677=) | |
13 | g.32363330A= | CA2082835583 | BRCA2 | c.8128A= (p.Ser2710=) c.7759A= (p.Ser2587=) c.595A= (p.Ser199=) c.8136A= (n.8136A=) c.693A= c.8032A= (p.Ser2678=) | |
13 | g.32363330A>C | CA387749413 | BRCA2 | c.8128A>C (p.Ser2710Arg) c.7759A>C (p.Ser2587Arg) c.595A>C (p.Ser199Arg) c.8136A>C (n.8136A>C) c.693A>C c.8032A>C (p.Ser2678Arg) | |
13 | g.32363330A>G | CA025464 | BRCA2 | c.8128A>G (p.Ser2710Gly) c.7759A>G (p.Ser2587Gly) c.595A>G (p.Ser199Gly) c.8136A>G (n.8136A>G) c.693A>G c.8032A>G (p.Ser2678Gly) | ClinVar dbSNP |
13 | g.32363330A>T | CA387749416 | BRCA2 | c.8128A>T (p.Ser2710Cys) c.7759A>T (p.Ser2587Cys) c.595A>T (p.Ser199Cys) c.8136A>T (n.8136A>T) c.693A>T c.8032A>T (p.Ser2678Cys) | dbSNP |
13 | g.32363331G>A | CA387749417 | BRCA2 | c.8129G>A (p.Ser2710Asn) c.7760G>A (p.Ser2587Asn) c.596G>A (p.Ser199Asn) c.8137G>A (n.8137G>A) c.694G>A c.8033G>A (p.Ser2678Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32363331G>C | CA387749422 | BRCA2 | c.8129G>C (p.Ser2710Thr) c.7760G>C (p.Ser2587Thr) c.596G>C (p.Ser199Thr) c.8137G>C (n.8137G>C) c.694G>C c.8033G>C (p.Ser2678Thr) | |
13 | g.32363331G= | CA2082835589 | BRCA2 | c.8129G= (p.Ser2710=) c.7760G= (p.Ser2587=) c.596G= (p.Ser199=) c.8137G= (n.8137G=) c.694G= c.8033G= (p.Ser2678=) | |
13 | g.32363331G>T | CA387749430 | BRCA2 | c.8129G>T (p.Ser2710Ile) c.7760G>T (p.Ser2587Ile) c.596G>T (p.Ser199Ile) c.8137G>T (n.8137G>T) c.694G>T c.8033G>T (p.Ser2678Ile) | |
13 | g.32363331_32363332delinsGT | CA2082835591 | BRCA2 | c.8129_8130delinsGT (p.Ser2710=) c.7760_7761delinsGT (p.Ser2587=) c.596_597delinsGT (p.Ser199=) c.8137_8138delinsGT (n.8137_8138delinsGT) c.694_695delinsGT c.8033_8034delinsGT (p.Ser2678=) | |
13 | g.32363332del | CA025465 | BRCA2 | c.8130del (p.Ser2710ArgfsTer23) c.7761del (p.Ser2587ArgfsTer23) c.597del (p.Ser199ArgfsTer23) c.8138del (n.8138del) c.695del c.8034del (p.Ser2678ArgfsTer23) | ClinVar dbSNP |
13 | g.32363332T>A | CA387749433 | BRCA2 | c.8130T>A (p.Ser2710Arg) c.7761T>A (p.Ser2587Arg) c.597T>A (p.Ser199Arg) c.8138T>A (n.8138T>A) c.695T>A c.8034T>A (p.Ser2678Arg) | dbSNP |
13 | g.32363332T>C | CA483439545 | BRCA2 | c.8130T>C (p.Ser2710=) c.7761T>C (p.Ser2587=) c.597T>C (p.Ser199=) c.8138T>C (n.8138T>C) c.695T>C c.8034T>C (p.Ser2678=) | ClinVar dbSNP |
13 | g.32363332T>G | CA387749435 | BRCA2 | c.8130T>G (p.Ser2710Arg) c.7761T>G (p.Ser2587Arg) c.597T>G (p.Ser199Arg) c.8138T>G (n.8138T>G) c.695T>G c.8034T>G (p.Ser2678Arg) | |
13 | g.32363332dup | CA2580087483 | BRCA2 | c.8130dup (p.Ala2711CysfsTer10) c.7761dup (p.Ala2588CysfsTer10) c.597dup (p.Ala200CysfsTer10) c.8138dup (n.8138dup) c.695dup c.8034dup (p.Ala2679CysfsTer10) | ClinVar |
13 | g.32363333G>A | CA16614369 | BRCA2 | c.8131G>A (p.Ala2711Thr) c.7762G>A (p.Ala2588Thr) c.598G>A (p.Ala200Thr) c.8139G>A (n.8139G>A) c.696G>A c.8035G>A (p.Ala2679Thr) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32363333G>C | CA387749439 | BRCA2 | c.8131G>C (p.Ala2711Pro) c.7762G>C (p.Ala2588Pro) c.598G>C (p.Ala200Pro) c.8139G>C (n.8139G>C) c.696G>C c.8035G>C (p.Ala2679Pro) | dbSNP |
13 | g.32363333G= | CA2082835615 | BRCA2 | c.8131G= (p.Ala2711=) c.7762G= (p.Ala2588=) c.598G= (p.Ala200=) c.8139G= (n.8139G=) c.696G= c.8035G= (p.Ala2679=) | |
13 | g.32363333G>T | CA387749441 | BRCA2 | c.8131G>T (p.Ala2711Ser) c.7762G>T (p.Ala2588Ser) c.598G>T (p.Ala200Ser) c.8139G>T (n.8139G>T) c.696G>T c.8035G>T (p.Ala2679Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32363334C>A | CA387749443 | BRCA2 | c.8132C>A (p.Ala2711Glu) c.7763C>A (p.Ala2588Glu) c.599C>A (p.Ala200Glu) c.8140C>A (n.8140C>A) c.697C>A c.8036C>A (p.Ala2679Glu) | dbSNP |
13 | g.32363334C>G | CA387749445 | BRCA2 | c.8132C>G (p.Ala2711Gly) c.7763C>G (p.Ala2588Gly) c.599C>G (p.Ala200Gly) c.8140C>G (n.8140C>G) c.697C>G c.8036C>G (p.Ala2679Gly) | dbSNP |
13 | g.32363334C>T | CA387749447 | BRCA2 | c.8132C>T (p.Ala2711Val) c.7763C>T (p.Ala2588Val) c.599C>T (p.Ala200Val) c.8140C>T (n.8140C>T) c.697C>T c.8036C>T (p.Ala2679Val) | ClinVar dbSNP |
13 | g.32363335A= | CA2082835627 | BRCA2 | c.8133A= (p.Ala2711=) c.7764A= (p.Ala2588=) c.600A= (p.Ala200=) c.8141A= (n.8141A=) c.698A= c.8037A= (p.Ala2679=) | |
13 | g.32363335A>C | CA483439548 | BRCA2 | c.8133A>C (p.Ala2711=) c.7764A>C (p.Ala2588=) c.600A>C (p.Ala200=) c.8141A>C (n.8141A>C) c.698A>C c.8037A>C (p.Ala2679=) | |
13 | g.32363335A>G | CA6941191 | BRCA2 | c.8133A>G (p.Ala2711=) c.7764A>G (p.Ala2588=) c.600A>G (p.Ala200=) c.8141A>G (n.8141A>G) c.698A>G c.8037A>G (p.Ala2679=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363335A>T | CA483439547 | BRCA2 | c.8133A>T (p.Ala2711=) c.7764A>T (p.Ala2588=) c.600A>T (p.Ala200=) c.8141A>T (n.8141A>T) c.698A>T c.8037A>T (p.Ala2679=) | dbSNP |
13 | g.32363336G>A | CA025466 | BRCA2 | c.8134G>A (p.Asp2712Asn) c.7765G>A (p.Asp2589Asn) c.601G>A (p.Asp201Asn) c.8142G>A (n.8142G>A) c.699G>A c.8038G>A (p.Asp2680Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32363336G>C | CA387749452 | BRCA2 | c.8134G>C (p.Asp2712His) c.7765G>C (p.Asp2589His) c.601G>C (p.Asp201His) c.8142G>C (n.8142G>C) c.699G>C c.8038G>C (p.Asp2680His) | ClinVar dbSNP |
13 | g.32363336G= | CA2082835640 | BRCA2 | c.8134G= (p.Asp2712=) c.7765G= (p.Asp2589=) c.601G= (p.Asp201=) c.8142G= (n.8142G=) c.699G= c.8038G= (p.Asp2680=) | |
13 | g.32363336G>T | CA387749453 | BRCA2 | c.8134G>T (p.Asp2712Tyr) c.7765G>T (p.Asp2589Tyr) c.601G>T (p.Asp201Tyr) c.8142G>T (n.8142G>T) c.699G>T c.8038G>T (p.Asp2680Tyr) | |
13 | g.32363337A= | CA2082835651 | BRCA2 | c.8135A= (p.Asp2712=) c.7766A= (p.Asp2589=) c.602A= (p.Asp201=) c.8143A= (n.8143A=) c.700A= c.8039A= (p.Asp2680=) | |
13 | g.32363337A>C | CA387749455 | BRCA2 | c.8135A>C (p.Asp2712Ala) c.7766A>C (p.Asp2589Ala) c.602A>C (p.Asp201Ala) c.8143A>C (n.8143A>C) c.700A>C c.8039A>C (p.Asp2680Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32363337A>G | CA387749457 | BRCA2 | c.8135A>G (p.Asp2712Gly) c.7766A>G (p.Asp2589Gly) c.602A>G (p.Asp201Gly) c.8143A>G (n.8143A>G) c.700A>G c.8039A>G (p.Asp2680Gly) | |
13 | g.32363337A>T | CA025467 | BRCA2 | c.8135A>T (p.Asp2712Val) c.7766A>T (p.Asp2589Val) c.602A>T (p.Asp201Val) c.8143A>T (n.8143A>T) c.700A>T c.8039A>T (p.Asp2680Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363338T>A | CA387749461 | BRCA2 | c.8136T>A (p.Asp2712Glu) c.7767T>A (p.Asp2589Glu) c.603T>A (p.Asp201Glu) c.8144T>A (n.8144T>A) c.701T>A c.8040T>A (p.Asp2680Glu) | |
13 | g.32363338T>C | CA483439550 | BRCA2 | c.8136T>C (p.Asp2712=) c.7767T>C (p.Asp2589=) c.603T>C (p.Asp201=) c.8144T>C (n.8144T>C) c.701T>C c.8040T>C (p.Asp2680=) | gnomAD v4 |
13 | g.32363338T>G | CA387749462 | BRCA2 | c.8136T>G (p.Asp2712Glu) c.7767T>G (p.Asp2589Glu) c.603T>G (p.Asp201Glu) c.8144T>G (n.8144T>G) c.701T>G c.8040T>G (p.Asp2680Glu) | ClinVar dbSNP |
13 | g.32363338T= | CA2082835657 | BRCA2 | c.8136T= (p.Asp2712=) c.7767T= (p.Asp2589=) c.603T= (p.Asp201=) c.8144T= (n.8144T=) c.701T= c.8040T= (p.Asp2680=) | |
13 | g.32363339A>C | CA387749463 | BRCA2 | c.8137A>C (p.Thr2713Pro) c.7768A>C (p.Thr2590Pro) c.604A>C (p.Thr202Pro) c.8145A>C (n.8145A>C) c.702A>C c.8041A>C (p.Thr2681Pro) | dbSNP |
13 | g.32363339A>G | CA387749466 | BRCA2 | c.8137A>G (p.Thr2713Ala) c.7768A>G (p.Thr2590Ala) c.604A>G (p.Thr202Ala) c.8145A>G (n.8145A>G) c.702A>G c.8041A>G (p.Thr2681Ala) | COSMIC COSMIC |
13 | g.32363339A>T | CA387749467 | BRCA2 | c.8137A>T (p.Thr2713Ser) c.7768A>T (p.Thr2590Ser) c.604A>T (p.Thr202Ser) c.8145A>T (n.8145A>T) c.702A>T c.8041A>T (p.Thr2681Ser) | dbSNP |
13 | g.32363340C>A | CA387749469 | BRCA2 | c.8138C>A (p.Thr2713Asn) c.7769C>A (p.Thr2590Asn) c.605C>A (p.Thr202Asn) c.8146C>A (n.8146C>A) c.703C>A c.8042C>A (p.Thr2681Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32363340C= | CA2082835664 | BRCA2 | c.8138C= (p.Thr2713=) c.7769C= (p.Thr2590=) c.605C= (p.Thr202=) c.8146C= (n.8146C=) c.703C= c.8042C= (p.Thr2681=) | |
13 | g.32363340C>G | CA387749471 | BRCA2 | c.8138C>G (p.Thr2713Ser) c.7769C>G (p.Thr2590Ser) c.605C>G (p.Thr202Ser) c.8146C>G (n.8146C>G) c.703C>G c.8042C>G (p.Thr2681Ser) | dbSNP |
13 | g.32363340C>T | CA247477752 | BRCA2 | c.8138C>T (p.Thr2713Ile) c.7769C>T (p.Thr2590Ile) c.605C>T (p.Thr202Ile) c.8146C>T (n.8146C>T) c.703C>T c.8042C>T (p.Thr2681Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363341C>A | CA483439555 | BRCA2 | c.8139C>A (p.Thr2713=) c.7770C>A (p.Thr2590=) c.606C>A (p.Thr202=) c.8147C>A (n.8147C>A) c.704C>A c.8043C>A (p.Thr2681=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363341C= | CA2082835671 | BRCA2 | c.8139C= (p.Thr2713=) c.7770C= (p.Thr2590=) c.606C= (p.Thr202=) c.8147C= (n.8147C=) c.704C= c.8043C= (p.Thr2681=) | |
13 | g.32363341C>G | CA483439556 | BRCA2 | c.8139C>G (p.Thr2713=) c.7770C>G (p.Thr2590=) c.606C>G (p.Thr202=) c.8147C>G (n.8147C>G) c.704C>G c.8043C>G (p.Thr2681=) | ClinVar dbSNP |
13 | g.32363341C>T | CA483439557 | BRCA2 | c.8139C>T (p.Thr2713=) c.7770C>T (p.Thr2590=) c.606C>T (p.Thr202=) c.8147C>T (n.8147C>T) c.704C>T c.8043C>T (p.Thr2681=) | dbSNP |
13 | g.32363342C>A | CA387749473 | BRCA2 | c.8140C>A (p.Gln2714Lys) c.7771C>A (p.Gln2591Lys) c.607C>A (p.Gln203Lys) c.8148C>A (n.8148C>A) c.705C>A c.8044C>A (p.Gln2682Lys) | ClinVar |
13 | g.32363342C= | CA2082835684 | BRCA2 | c.8140C= (p.Gln2714=) c.7771C= (p.Gln2591=) c.607C= (p.Gln203=) c.8148C= (n.8148C=) c.705C= c.8044C= (p.Gln2682=) | |
13 | g.32363342C>G | CA025468 | BRCA2 | c.8140C>G (p.Gln2714Glu) c.7771C>G (p.Gln2591Glu) c.607C>G (p.Gln203Glu) c.8148C>G (n.8148C>G) c.705C>G c.8044C>G (p.Gln2682Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32363342C>T | CA025469 | BRCA2 | c.8140C>T (p.Gln2714Ter) c.7771C>T (p.Gln2591Ter) c.607C>T (p.Gln203Ter) c.8148C>T (n.8148C>T) c.705C>T c.8044C>T (p.Gln2682Ter) | ClinVar dbSNP |
13 | g.32363342_32363343delinsCA | CA2082835681 | BRCA2 | c.8140_8141delinsCA (p.Gln2714=) c.7771_7772delinsCA (p.Gln2591=) c.607_608delinsCA (p.Gln203=) c.8148_8149delinsCA (n.8148_8149delinsCA) c.705_706delinsCA c.8044_8045delinsCA (p.Gln2682=) | |
13 | g.32363343A= | CA2082835691 | BRCA2 | c.8141A= (p.Gln2714=) c.7772A= (p.Gln2591=) c.608A= (p.Gln203=) c.8149A= (n.8149A=) c.706A= c.8045A= (p.Gln2682=) | |
13 | g.32363343A>C | CA387749477 | BRCA2 | c.8141A>C (p.Gln2714Pro) c.7772A>C (p.Gln2591Pro) c.608A>C (p.Gln203Pro) c.8149A>C (n.8149A>C) c.706A>C c.8045A>C (p.Gln2682Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363343A>G | CA025470 | BRCA2 | c.8141A>G (p.Gln2714Arg) c.7772A>G (p.Gln2591Arg) c.608A>G (p.Gln203Arg) c.8149A>G (n.8149A>G) c.706A>G c.8045A>G (p.Gln2682Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363343A>T | CA387749479 | BRCA2 | c.8141A>T (p.Gln2714Leu) c.7772A>T (p.Gln2591Leu) c.608A>T (p.Gln203Leu) c.8149A>T (n.8149A>T) c.706A>T c.8045A>T (p.Gln2682Leu) | |
13 | g.32363343_32363347del | CA1139770850 | BRCA2 | c.8141_8145del (p.Gln2714ArgfsTer5) c.7772_7776del (p.Gln2591ArgfsTer5) c.608_612del (p.Gln203ArgfsTer5) c.8149_8153del (n.8149_8153del) c.706_710del c.8045_8049del (p.Gln2682ArgfsTer5) | |
13 | g.32363347del | CA645372930 | BRCA2 | c.8145del (p.Val2716TrpfsTer17) c.7776del (p.Val2593TrpfsTer17) c.612del (p.Val205TrpfsTer17) c.8153del (n.8153del) c.710del c.8049del (p.Val2684TrpfsTer17) | ClinVar dbSNP |
13 | g.32363344A= | CA2082835699 | BRCA2 | c.8142A= (p.Gln2714=) c.7773A= (p.Gln2591=) c.609A= (p.Gln203=) c.8150A= (n.8150A=) c.707A= c.8046A= (p.Gln2682=) | |
13 | g.32363344A>C | CA387749481 | BRCA2 | c.8142A>C (p.Gln2714His) c.7773A>C (p.Gln2591His) c.609A>C (p.Gln203His) c.8150A>C (n.8150A>C) c.707A>C c.8046A>C (p.Gln2682His) | |
13 | g.32363344A>G | CA483439564 | BRCA2 | c.8142A>G (p.Gln2714=) c.7773A>G (p.Gln2591=) c.609A>G (p.Gln203=) c.8150A>G (n.8150A>G) c.707A>G c.8046A>G (p.Gln2682=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363344A>T | CA387749483 | BRCA2 | c.8142A>T (p.Gln2714His) c.7773A>T (p.Gln2591His) c.609A>T (p.Gln203His) c.8150A>T (n.8150A>T) c.707A>T c.8046A>T (p.Gln2682His) | dbSNP |
13 | g.32363345A= | CA2082835705 | BRCA2 | c.8143A= (p.Lys2715=) c.7774A= (p.Lys2592=) c.610A= (p.Lys204=) c.8151A= (n.8151A=) c.708A= c.8047A= (p.Lys2683=) | |
13 | g.32363345A>C | CA387749485 | BRCA2 | c.8143A>C (p.Lys2715Gln) c.7774A>C (p.Lys2592Gln) c.610A>C (p.Lys204Gln) c.8151A>C (n.8151A>C) c.708A>C c.8047A>C (p.Lys2683Gln) | dbSNP |
13 | g.32363345A>G | CA387749488 | BRCA2 | c.8143A>G (p.Lys2715Glu) c.7774A>G (p.Lys2592Glu) c.610A>G (p.Lys204Glu) c.8151A>G (n.8151A>G) c.708A>G c.8047A>G (p.Lys2683Glu) | |
13 | g.32363345A>T | CA339029 | BRCA2 | c.8143A>T (p.Lys2715Ter) c.7774A>T (p.Lys2592Ter) c.610A>T (p.Lys204Ter) c.8151A>T (n.8151A>T) c.708A>T c.8047A>T (p.Lys2683Ter) | ClinVar dbSNP |
13 | g.32363346A= | CA2082835714 | BRCA2 | c.8144A= (p.Lys2715=) c.7775A= (p.Lys2592=) c.611A= (p.Lys204=) c.8152A= (n.8152A=) c.709A= c.8048A= (p.Lys2683=) | |
13 | g.32363346A>C | CA387749491 | BRCA2 | c.8144A>C (p.Lys2715Thr) c.7775A>C (p.Lys2592Thr) c.611A>C (p.Lys204Thr) c.8152A>C (n.8152A>C) c.709A>C c.8048A>C (p.Lys2683Thr) | |
13 | g.32363346A>G | CA6941192 | BRCA2 | c.8144A>G (p.Lys2715Arg) c.7775A>G (p.Lys2592Arg) c.611A>G (p.Lys204Arg) c.8152A>G (n.8152A>G) c.709A>G c.8048A>G (p.Lys2683Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363346A>T | CA387749493 | BRCA2 | c.8144A>T (p.Lys2715Ile) c.7775A>T (p.Lys2592Ile) c.611A>T (p.Lys204Ile) c.8152A>T (n.8152A>T) c.709A>T c.8048A>T (p.Lys2683Ile) | |
13 | g.32363347A>C | CA387749495 | BRCA2 | c.8145A>C (p.Lys2715Asn) c.7776A>C (p.Lys2592Asn) c.612A>C (p.Lys204Asn) c.8153A>C (n.8153A>C) c.710A>C c.8049A>C (p.Lys2683Asn) | |
13 | g.32363347A>G | CA483439566 | BRCA2 | c.8145A>G (p.Lys2715=) c.7776A>G (p.Lys2592=) c.612A>G (p.Lys204=) c.8153A>G (n.8153A>G) c.710A>G c.8049A>G (p.Lys2683=) | |
13 | g.32363347A>T | CA387749497 | BRCA2 | c.8145A>T (p.Lys2715Asn) c.7776A>T (p.Lys2592Asn) c.612A>T (p.Lys204Asn) c.8153A>T (n.8153A>T) c.710A>T c.8049A>T (p.Lys2683Asn) | dbSNP |
13 | g.32363348G>A | CA387749499 | BRCA2 | c.8146G>A (p.Val2716Met) c.7777G>A (p.Val2593Met) c.613G>A (p.Val205Met) c.8154G>A (n.8154G>A) c.711G>A c.8050G>A (p.Val2684Met) | ClinVar dbSNP |
13 | g.32363348G>C | CA387749501 | BRCA2 | c.8146G>C (p.Val2716Leu) c.7777G>C (p.Val2593Leu) c.613G>C (p.Val205Leu) c.8154G>C (n.8154G>C) c.711G>C c.8050G>C (p.Val2684Leu) | ClinVar dbSNP |
13 | g.32363348G= | CA2082835725 | BRCA2 | c.8146G= (p.Val2716=) c.7777G= (p.Val2593=) c.613G= (p.Val205=) c.8154G= (n.8154G=) c.711G= c.8050G= (p.Val2684=) | |
13 | g.32363348G>T | CA6941193 | BRCA2 | c.8146G>T (p.Val2716Leu) c.7777G>T (p.Val2593Leu) c.613G>T (p.Val205Leu) c.8154G>T (n.8154G>T) c.711G>T c.8050G>T (p.Val2684Leu) | dbSNP ExAC gnomAD v2 |
13 | g.32363348_32363349delinsGT | CA2082835726 | BRCA2 | c.8146_8147delinsGT (p.Val2716=) c.7777_7778delinsGT (p.Val2593=) c.613_614delinsGT (p.Val205=) c.8154_8155delinsGT (n.8154_8155delinsGT) c.711_712delinsGT c.8050_8051delinsGT (p.Val2684=) | |
13 | g.32363349del | CA891843894 | BRCA2 | c.8147del (p.Val2716GlyfsTer17) c.7778del (p.Val2593GlyfsTer17) c.614del (p.Val205GlyfsTer17) c.8155del (n.8155del) c.712del c.8051del (p.Val2684GlyfsTer17) | ClinVar dbSNP |
13 | g.32363349T>A | CA387749504 | BRCA2 | c.8147T>A (p.Val2716Glu) c.7778T>A (p.Val2593Glu) c.614T>A (p.Val205Glu) c.8155T>A (n.8155T>A) c.712T>A c.8051T>A (p.Val2684Glu) | |
13 | g.32363349T>C | CA387749506 | BRCA2 | c.8147T>C (p.Val2716Ala) c.7778T>C (p.Val2593Ala) c.614T>C (p.Val205Ala) c.8155T>C (n.8155T>C) c.712T>C c.8051T>C (p.Val2684Ala) | |
13 | g.32363349T>G | CA387749508 | BRCA2 | c.8147T>G (p.Val2716Gly) c.7778T>G (p.Val2593Gly) c.614T>G (p.Val205Gly) c.8155T>G (n.8155T>G) c.712T>G c.8051T>G (p.Val2684Gly) | |
13 | g.32363350G>A | CA483439568 | BRCA2 | c.8148G>A (p.Val2716=) c.7779G>A (p.Val2593=) c.615G>A (p.Val205=) c.8156G>A (n.8156G>A) c.713G>A c.8052G>A (p.Val2684=) | ClinVar dbSNP |
13 | g.32363350G>C | CA483439569 | BRCA2 | c.8148G>C (p.Val2716=) c.7779G>C (p.Val2593=) c.615G>C (p.Val205=) c.8156G>C (n.8156G>C) c.713G>C c.8052G>C (p.Val2684=) | dbSNP |
13 | g.32363350G= | CA2082835737 | BRCA2 | c.8148G= (p.Val2716=) c.7779G= (p.Val2593=) c.615G= (p.Val205=) c.8156G= (n.8156G=) c.713G= c.8052G= (p.Val2684=) | |
13 | g.32363350G>T | CA483439570 | BRCA2 | c.8148G>T (p.Val2716=) c.7779G>T (p.Val2593=) c.615G>T (p.Val205=) c.8156G>T (n.8156G>T) c.713G>T c.8052G>T (p.Val2684=) | ClinVar dbSNP |
13 | g.32363351G>A | CA6941194 | BRCA2 | c.8149G>A (p.Ala2717Thr) c.7780G>A (p.Ala2594Thr) c.616G>A (p.Ala206Thr) c.8157G>A (n.8157G>A) c.714G>A c.8053G>A (p.Ala2685Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363351G>C | CA387749511 | BRCA2 | c.8149G>C (p.Ala2717Pro) c.7780G>C (p.Ala2594Pro) c.616G>C (p.Ala206Pro) c.8157G>C (n.8157G>C) c.714G>C c.8053G>C (p.Ala2685Pro) | dbSNP |
13 | g.32363351G= | CA2082835750 | BRCA2 | c.8149G= (p.Ala2717=) c.7780G= (p.Ala2594=) c.616G= (p.Ala206=) c.8157G= (n.8157G=) c.714G= c.8053G= (p.Ala2685=) | |
13 | g.32363351G>T | CA025471 | BRCA2 | c.8149G>T (p.Ala2717Ser) c.7780G>T (p.Ala2594Ser) c.616G>T (p.Ala206Ser) c.8157G>T (n.8157G>T) c.714G>T c.8053G>T (p.Ala2685Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363352C>A | CA387749517 | BRCA2 | c.8150C>A (p.Ala2717Asp) c.7781C>A (p.Ala2594Asp) c.617C>A (p.Ala206Asp) c.8158C>A (n.8158C>A) c.715C>A c.8054C>A (p.Ala2685Asp) | |
13 | g.32363352C= | CA2082835757 | BRCA2 | c.8150C= (p.Ala2717=) c.7781C= (p.Ala2594=) c.617C= (p.Ala206=) c.8158C= (n.8158C=) c.715C= c.8054C= (p.Ala2685=) | |
13 | g.32363352C>G | CA387749515 | BRCA2 | c.8150C>G (p.Ala2717Gly) c.7781C>G (p.Ala2594Gly) c.617C>G (p.Ala206Gly) c.8158C>G (n.8158C>G) c.715C>G c.8054C>G (p.Ala2685Gly) | dbSNP |
13 | g.32363352C>T | CA10579768 | BRCA2 | c.8150C>T (p.Ala2717Val) c.7781C>T (p.Ala2594Val) c.617C>T (p.Ala206Val) c.8158C>T (n.8158C>T) c.715C>T c.8054C>T (p.Ala2685Val) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32363353C>A | CA483439573 | BRCA2 | c.8151C>A (p.Ala2717=) c.7782C>A (p.Ala2594=) c.618C>A (p.Ala206=) c.8159C>A (n.8159C>A) c.716C>A c.8055C>A (p.Ala2685=) | dbSNP |
13 | g.32363353C= | CA2082835763 | BRCA2 | c.8151C= (p.Ala2717=) c.7782C= (p.Ala2594=) c.618C= (p.Ala206=) c.8159C= (n.8159C=) c.716C= c.8055C= (p.Ala2685=) | |
13 | g.32363353C>G | CA483439574 | BRCA2 | c.8151C>G (p.Ala2717=) c.7782C>G (p.Ala2594=) c.618C>G (p.Ala206=) c.8159C>G (n.8159C>G) c.716C>G c.8055C>G (p.Ala2685=) | dbSNP |
13 | g.32363353C>T | CA338963 | BRCA2 | c.8151C>T (p.Ala2717=) c.7782C>T (p.Ala2594=) c.618C>T (p.Ala206=) c.8159C>T (n.8159C>T) c.716C>T c.8055C>T (p.Ala2685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363354A= | CA2082835773 | BRCA2 | c.8152A= (p.Ile2718=) c.7783A= (p.Ile2595=) c.619A= (p.Ile207=) c.8160A= (n.8160A=) c.717A= c.8056A= (p.Ile2686=) | |
13 | g.32363354A>C | CA387749520 | BRCA2 | c.8152A>C (p.Ile2718Leu) c.7783A>C (p.Ile2595Leu) c.619A>C (p.Ile207Leu) c.8160A>C (n.8160A>C) c.717A>C c.8056A>C (p.Ile2686Leu) | |
13 | g.32363354A>G | CA387749521 | BRCA2 | c.8152A>G (p.Ile2718Val) c.7783A>G (p.Ile2595Val) c.619A>G (p.Ile207Val) c.8160A>G (n.8160A>G) c.717A>G c.8056A>G (p.Ile2686Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32363354A>T | CA387749523 | BRCA2 | c.8152A>T (p.Ile2718Phe) c.7783A>T (p.Ile2595Phe) c.619A>T (p.Ile207Phe) c.8160A>T (n.8160A>T) c.717A>T c.8056A>T (p.Ile2686Phe) | dbSNP |
13 | g.32363355T>A | CA387749524 | BRCA2 | c.8153T>A (p.Ile2718Asn) c.7784T>A (p.Ile2595Asn) c.620T>A (p.Ile207Asn) c.8161T>A (n.8161T>A) c.718T>A c.8057T>A (p.Ile2686Asn) | dbSNP |
13 | g.32363355T>C | CA025473 | BRCA2 | c.8153T>C (p.Ile2718Thr) c.7784T>C (p.Ile2595Thr) c.620T>C (p.Ile207Thr) c.8161T>C (n.8161T>C) c.718T>C c.8057T>C (p.Ile2686Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363355T>G | CA387749526 | BRCA2 | c.8153T>G (p.Ile2718Ser) c.7784T>G (p.Ile2595Ser) c.620T>G (p.Ile207Ser) c.8161T>G (n.8161T>G) c.718T>G c.8057T>G (p.Ile2686Ser) | dbSNP |
13 | g.32363355T= | CA2082835785 | BRCA2 | c.8153T= (p.Ile2718=) c.7784T= (p.Ile2595=) c.620T= (p.Ile207=) c.8161T= (n.8161T=) c.718T= c.8057T= (p.Ile2686=) | |
13 | g.32363356T>A | CA483439575 | BRCA2 | c.8154T>A (p.Ile2718=) c.7785T>A (p.Ile2595=) c.621T>A (p.Ile207=) c.8162T>A (n.8162T>A) c.719T>A c.8058T>A (p.Ile2686=) | dbSNP |
13 | g.32363356T>C | CA025474 | BRCA2 | c.8154T>C (p.Ile2718=) c.7785T>C (p.Ile2595=) c.621T>C (p.Ile207=) c.8162T>C (n.8162T>C) c.719T>C c.8058T>C (p.Ile2686=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363356T>G | CA387749530 | BRCA2 | c.8154T>G (p.Ile2718Met) c.7785T>G (p.Ile2595Met) c.621T>G (p.Ile207Met) c.8162T>G (n.8162T>G) c.719T>G c.8058T>G (p.Ile2686Met) | dbSNP |
13 | g.32363356T= | CA2082835792 | BRCA2 | c.8154T= (p.Ile2718=) c.7785T= (p.Ile2595=) c.621T= (p.Ile207=) c.8162T= (n.8162T=) c.719T= c.8058T= (p.Ile2686=) | |
13 | g.32363357A= | CA2082835805 | BRCA2 | c.8155A= (p.Ile2719=) c.7786A= (p.Ile2596=) c.622A= (p.Ile208=) c.8163A= (n.8163A=) c.720A= c.8059A= (p.Ile2687=) | |
13 | g.32363357A>C | CA387749532 | BRCA2 | c.8155A>C (p.Ile2719Leu) c.7786A>C (p.Ile2596Leu) c.622A>C (p.Ile208Leu) c.8163A>C (n.8163A>C) c.720A>C c.8059A>C (p.Ile2687Leu) | |
13 | g.32363357A>G | CA387749534 | BRCA2 | c.8155A>G (p.Ile2719Val) c.7786A>G (p.Ile2596Val) c.622A>G (p.Ile208Val) c.8163A>G (n.8163A>G) c.720A>G c.8059A>G (p.Ile2687Val) | ClinVar dbSNP |
13 | g.32363357A>T | CA387749535 | BRCA2 | c.8155A>T (p.Ile2719Phe) c.7786A>T (p.Ile2596Phe) c.622A>T (p.Ile208Phe) c.8163A>T (n.8163A>T) c.720A>T c.8059A>T (p.Ile2687Phe) | ClinVar dbSNP |
13 | g.32363358T>A | CA387749541 | BRCA2 | c.8156T>A (p.Ile2719Asn) c.7787T>A (p.Ile2596Asn) c.623T>A (p.Ile208Asn) c.8164T>A (n.8164T>A) c.721T>A c.8060T>A (p.Ile2687Asn) | dbSNP |
13 | g.32363358T>C | CA247477789 | BRCA2 | c.8156T>C (p.Ile2719Thr) c.7787T>C (p.Ile2596Thr) c.623T>C (p.Ile208Thr) c.8164T>C (n.8164T>C) c.721T>C c.8060T>C (p.Ile2687Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363358T>G | CA387749538 | BRCA2 | c.8156T>G (p.Ile2719Ser) c.7787T>G (p.Ile2596Ser) c.623T>G (p.Ile208Ser) c.8164T>G (n.8164T>G) c.721T>G c.8060T>G (p.Ile2687Ser) | |
13 | g.32363358T= | CA2082835809 | BRCA2 | c.8156T= (p.Ile2719=) c.7787T= (p.Ile2596=) c.623T= (p.Ile208=) c.8164T= (n.8164T=) c.721T= c.8060T= (p.Ile2687=) | |
13 | g.32363359del | CA2580087486 | BRCA2 | c.8157del (p.Ile2719MetfsTer14) c.7788del (p.Ile2596MetfsTer14) c.624del (p.Ile208MetfsTer14) c.8165del (n.8165del) c.722del c.8061del (p.Ile2687MetfsTer14) | ClinVar |
13 | g.32363359T>A | CA483439578 | BRCA2 | c.8157T>A (p.Ile2719=) c.7788T>A (p.Ile2596=) c.624T>A (p.Ile208=) c.8165T>A (n.8165T>A) c.722T>A c.8061T>A (p.Ile2687=) | dbSNP |
13 | g.32363359T>C | CA025475 | BRCA2 | c.8157T>C (p.Ile2719=) c.7788T>C (p.Ile2596=) c.624T>C (p.Ile208=) c.8165T>C (n.8165T>C) c.722T>C c.8061T>C (p.Ile2687=) | ClinVar dbSNP |
13 | g.32363359T>G | CA025476 | BRCA2 | c.8157T>G (p.Ile2719Met) c.7788T>G (p.Ile2596Met) c.624T>G (p.Ile208Met) c.8165T>G (n.8165T>G) c.722T>G c.8061T>G (p.Ile2687Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32363359T= | CA2082835817 | BRCA2 | c.8157T= (p.Ile2719=) c.7788T= (p.Ile2596=) c.624T= (p.Ile208=) c.8165T= (n.8165T=) c.722T= c.8061T= (p.Ile2687=) | |
13 | g.32363360G>A | CA387749545 | BRCA2 | c.8158G>A (p.Glu2720Lys) c.7789G>A (p.Glu2597Lys) c.625G>A (p.Glu209Lys) c.8166G>A (n.8166G>A) c.723G>A c.8062G>A (p.Glu2688Lys) | ClinVar dbSNP |
13 | g.32363360G>C | CA387749547 | BRCA2 | c.8158G>C (p.Glu2720Gln) c.7789G>C (p.Glu2597Gln) c.625G>C (p.Glu209Gln) c.8166G>C (n.8166G>C) c.723G>C c.8062G>C (p.Glu2688Gln) | dbSNP |
13 | g.32363360G= | CA2082835828 | BRCA2 | c.8158G= (p.Glu2720=) c.7789G= (p.Glu2597=) c.625G= (p.Glu209=) c.8166G= (n.8166G=) c.723G= c.8062G= (p.Glu2688=) | |
13 | g.32363360G>T | CA387749549 | BRCA2 | c.8158G>T (p.Glu2720Ter) c.7789G>T (p.Glu2597Ter) c.625G>T (p.Glu209Ter) c.8166G>T (n.8166G>T) c.723G>T c.8062G>T (p.Glu2688Ter) | dbSNP |
13 | g.32363361A>C | CA387749551 | BRCA2 | c.8159A>C (p.Glu2720Ala) c.7790A>C (p.Glu2597Ala) c.626A>C (p.Glu209Ala) c.8167A>C (n.8167A>C) c.724A>C c.8063A>C (p.Glu2688Ala) | dbSNP |
13 | g.32363361A>G | CA387749553 | BRCA2 | c.8159A>G (p.Glu2720Gly) c.7790A>G (p.Glu2597Gly) c.626A>G (p.Glu209Gly) c.8167A>G (n.8167A>G) c.724A>G c.8063A>G (p.Glu2688Gly) | dbSNP |
13 | g.32363361A>T | CA387749555 | BRCA2 | c.8159A>T (p.Glu2720Val) c.7790A>T (p.Glu2597Val) c.626A>T (p.Glu209Val) c.8167A>T (n.8167A>T) c.724A>T c.8063A>T (p.Glu2688Val) | dbSNP |
13 | g.32363362_32363398dup | CA10589469 | BRCA2 | c.8160_8196dup (p.Asp2733ThrfsTer9) c.7791_7827dup (p.Asp2610ThrfsTer9) c.627_663dup (p.Asp222ThrfsTer9) c.8168_8204dup (n.8168_8204dup) c.725_761dup c.8064_8100dup (p.Asp2701ThrfsTer9) | ClinVar dbSNP |
13 | g.32363362A>C | CA387749558 | BRCA2 | c.8160A>C (p.Glu2720Asp) c.7791A>C (p.Glu2597Asp) c.627A>C (p.Glu209Asp) c.8168A>C (n.8168A>C) c.725A>C c.8064A>C (p.Glu2688Asp) | dbSNP |
13 | g.32363362A>G | CA483439582 | BRCA2 | c.8160A>G (p.Glu2720=) c.7791A>G (p.Glu2597=) c.627A>G (p.Glu209=) c.8168A>G (n.8168A>G) c.725A>G c.8064A>G (p.Glu2688=) | |
13 | g.32363362A>T | CA387749560 | BRCA2 | c.8160A>T (p.Glu2720Asp) c.7791A>T (p.Glu2597Asp) c.627A>T (p.Glu209Asp) c.8168A>T (n.8168A>T) c.725A>T c.8064A>T (p.Glu2688Asp) | |
13 | g.32363363C>A | CA387749563 | BRCA2 | c.8161C>A (p.Leu2721Ile) c.7792C>A (p.Leu2598Ile) c.628C>A (p.Leu210Ile) c.8169C>A (n.8169C>A) c.726C>A c.8065C>A (p.Leu2689Ile) | |
13 | g.32363363C= | CA2082835839 | BRCA2 | c.8161C= (p.Leu2721=) c.7792C= (p.Leu2598=) c.628C= (p.Leu210=) c.8169C= (n.8169C=) c.726C= c.8065C= (p.Leu2689=) | |
13 | g.32363363C>G | CA387749564 | BRCA2 | c.8161C>G (p.Leu2721Val) c.7792C>G (p.Leu2598Val) c.628C>G (p.Leu210Val) c.8169C>G (n.8169C>G) c.726C>G c.8065C>G (p.Leu2689Val) | ClinVar |
13 | g.32363363C>T | CA387749566 | BRCA2 | c.8161C>T (p.Leu2721Phe) c.7792C>T (p.Leu2598Phe) c.628C>T (p.Leu210Phe) c.8169C>T (n.8169C>T) c.726C>T c.8065C>T (p.Leu2689Phe) | ClinVar dbSNP |
13 | g.32363364T>A | CA025477 | BRCA2 | c.8162T>A (p.Leu2721His) c.7793T>A (p.Leu2598His) c.629T>A (p.Leu210His) c.8170T>A (n.8170T>A) c.727T>A c.8066T>A (p.Leu2689His) | ClinVar dbSNP |
13 | g.32363364T>C | CA387749568 | BRCA2 | c.8162T>C (p.Leu2721Pro) c.7793T>C (p.Leu2598Pro) c.629T>C (p.Leu210Pro) c.8170T>C (n.8170T>C) c.727T>C c.8066T>C (p.Leu2689Pro) | ClinVar dbSNP |
13 | g.32363364T>G | CA025478 | BRCA2 | c.8162T>G (p.Leu2721Arg) c.7793T>G (p.Leu2598Arg) c.629T>G (p.Leu210Arg) c.8170T>G (n.8170T>G) c.727T>G c.8066T>G (p.Leu2689Arg) | ClinVar dbSNP |
13 | g.32363364T= | CA2082835852 | BRCA2 | c.8162T= (p.Leu2721=) c.7793T= (p.Leu2598=) c.629T= (p.Leu210=) c.8170T= (n.8170T=) c.727T= c.8066T= (p.Leu2689=) | |
13 | g.32363365T>A | CA483439583 | BRCA2 | c.8163T>A (p.Leu2721=) c.7794T>A (p.Leu2598=) c.630T>A (p.Leu210=) c.8171T>A (n.8171T>A) c.728T>A c.8067T>A (p.Leu2689=) | dbSNP |
13 | g.32363365T>C | CA025479 | BRCA2 | c.8163T>C (p.Leu2721=) c.7794T>C (p.Leu2598=) c.630T>C (p.Leu210=) c.8171T>C (n.8171T>C) c.728T>C c.8067T>C (p.Leu2689=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363365T>G | CA483439584 | BRCA2 | c.8163T>G (p.Leu2721=) c.7794T>G (p.Leu2598=) c.630T>G (p.Leu210=) c.8171T>G (n.8171T>G) c.728T>G c.8067T>G (p.Leu2689=) | |
13 | g.32363365T= | CA2082835856 | BRCA2 | c.8163T= (p.Leu2721=) c.7794T= (p.Leu2598=) c.630T= (p.Leu210=) c.8171T= (n.8171T=) c.728T= c.8067T= (p.Leu2689=) | |
13 | g.32363365_32363366delinsTA | CA2082835860 | BRCA2 | c.8163_8164delinsTA (p.Leu2721=) c.7794_7795delinsTA (p.Leu2598=) c.630_631delinsTA (p.Leu210=) c.8171_8172delinsTA (n.8171_8172delinsTA) c.728_729delinsTA c.8067_8068delinsTA (p.Leu2689=) | |
13 | g.32363366del | CA10589470 | BRCA2 | c.8164del (p.Thr2722GlnfsTer11) c.7795del (p.Thr2599GlnfsTer11) c.631del (p.Thr211GlnfsTer11) c.8172del (n.8172del) c.729del c.8068del (p.Thr2690GlnfsTer11) | ClinVar dbSNP |
13 | g.32363366A= | CA2082835873 | BRCA2 | c.8164A= (p.Thr2722=) c.7795A= (p.Thr2599=) c.631A= (p.Thr211=) c.8172A= (n.8172A=) c.729A= c.8068A= (p.Thr2690=) | |
13 | g.32363366A>C | CA387749573 | BRCA2 | c.8164A>C (p.Thr2722Pro) c.7795A>C (p.Thr2599Pro) c.631A>C (p.Thr211Pro) c.8172A>C (n.8172A>C) c.729A>C c.8068A>C (p.Thr2690Pro) | dbSNP |
13 | g.32363366A>G | CA387749574 | BRCA2 | c.8164A>G (p.Thr2722Ala) c.7795A>G (p.Thr2599Ala) c.631A>G (p.Thr211Ala) c.8172A>G (n.8172A>G) c.729A>G c.8068A>G (p.Thr2690Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32363366A>T | CA387749576 | BRCA2 | c.8164A>T (p.Thr2722Ser) c.7795A>T (p.Thr2599Ser) c.631A>T (p.Thr211Ser) c.8172A>T (n.8172A>T) c.729A>T c.8068A>T (p.Thr2690Ser) | dbSNP |
13 | g.32363366dup | CA2573149390 | BRCA2 | c.8164dup (p.Thr2722AsnfsTer8) c.7795dup (p.Thr2599AsnfsTer8) c.631dup (p.Thr211AsnfsTer8) c.8172dup (n.8172dup) c.729dup c.8068dup (p.Thr2690AsnfsTer8) | ClinVar dbSNP |
13 | g.32363367_32363368del | CA2739277543 | BRCA2 | c.8165_8166del (p.Thr2722ArgfsTer7) c.7796_7797del (p.Thr2599ArgfsTer7) c.632_633del (p.Thr211ArgfsTer7) c.8173_8174del (n.8173_8174del) c.730_731del c.8069_8070del (p.Thr2690ArgfsTer7) | ClinVar |
13 | g.32363367C>A | CA10579769 | BRCA2 | c.8165C>A (p.Thr2722Lys) c.7796C>A (p.Thr2599Lys) c.632C>A (p.Thr211Lys) c.8173C>A (n.8173C>A) c.730C>A c.8069C>A (p.Thr2690Lys) | ClinVar dbSNP |
13 | g.32363367C= | CA2082835881 | BRCA2 | c.8165C= (p.Thr2722=) c.7796C= (p.Thr2599=) c.632C= (p.Thr211=) c.8173C= (n.8173C=) c.730C= c.8069C= (p.Thr2690=) | |
13 | g.32363367C>G | CA025480 | BRCA2 | c.8165C>G (p.Thr2722Arg) c.7796C>G (p.Thr2599Arg) c.632C>G (p.Thr211Arg) c.8173C>G (n.8173C>G) c.730C>G c.8069C>G (p.Thr2690Arg) | ClinVar dbSNP |
13 | g.32363367C>T | CA387749581 | BRCA2 | c.8165C>T (p.Thr2722Ile) c.7796C>T (p.Thr2599Ile) c.632C>T (p.Thr211Ile) c.8173C>T (n.8173C>T) c.730C>T c.8069C>T (p.Thr2690Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32363368A= | CA2082835896 | BRCA2 | c.8166A= (p.Thr2722=) c.7797A= (p.Thr2599=) c.633A= (p.Thr211=) c.8174A= (n.8174A=) c.731A= c.8070A= (p.Thr2690=) | |
13 | g.32363368A>C | CA025481 | BRCA2 | c.8166A>C (p.Thr2722=) c.7797A>C (p.Thr2599=) c.633A>C (p.Thr211=) c.8174A>C (n.8174A>C) c.731A>C c.8070A>C (p.Thr2690=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363368A>G | CA16606820 | BRCA2 | c.8166A>G (p.Thr2722=) c.7797A>G (p.Thr2599=) c.633A>G (p.Thr211=) c.8174A>G (n.8174A>G) c.731A>G c.8070A>G (p.Thr2690=) | ClinVar dbSNP |
13 | g.32363368A>T | CA483439586 | BRCA2 | c.8166A>T (p.Thr2722=) c.7797A>T (p.Thr2599=) c.633A>T (p.Thr211=) c.8174A>T (n.8174A>T) c.731A>T c.8070A>T (p.Thr2690=) | dbSNP |
13 | g.32363369G>A | CA387749585 | BRCA2 | c.8167G>A (p.Asp2723Asn) c.7798G>A (p.Asp2600Asn) c.634G>A (p.Asp212Asn) c.8175G>A (n.8175G>A) c.732G>A c.8071G>A (p.Asp2691Asn) | ClinVar dbSNP |
13 | g.32363369G>C | CA025482 | BRCA2 | c.8167G>C (p.Asp2723His) c.7798G>C (p.Asp2600His) c.634G>C (p.Asp212His) c.8175G>C (n.8175G>C) c.732G>C c.8071G>C (p.Asp2691His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363369G= | CA2082835903 | BRCA2 | c.8167G= (p.Asp2723=) c.7798G= (p.Asp2600=) c.634G= (p.Asp212=) c.8175G= (n.8175G=) c.732G= c.8071G= (p.Asp2691=) | |
13 | g.32363369G>T | CA387749586 | BRCA2 | c.8167G>T (p.Asp2723Tyr) c.7798G>T (p.Asp2600Tyr) c.634G>T (p.Asp212Tyr) c.8175G>T (n.8175G>T) c.732G>T c.8071G>T (p.Asp2691Tyr) | |
13 | g.32363370A= | CA2082835912 | BRCA2 | c.8168A= (p.Asp2723=) c.7799A= (p.Asp2600=) c.635A= (p.Asp212=) c.8176A= (n.8176A=) c.733A= c.8072A= (p.Asp2691=) | |
13 | g.32363370A>C | CA025483 | BRCA2 | c.8168A>C (p.Asp2723Ala) c.7799A>C (p.Asp2600Ala) c.635A>C (p.Asp212Ala) c.8176A>C (n.8176A>C) c.733A>C c.8072A>C (p.Asp2691Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363370A>G | CA025484 | BRCA2 | c.8168A>G (p.Asp2723Gly) c.7799A>G (p.Asp2600Gly) c.635A>G (p.Asp212Gly) c.8176A>G (n.8176A>G) c.733A>G c.8072A>G (p.Asp2691Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363370A>T | CA025485 | BRCA2 | c.8168A>T (p.Asp2723Val) c.7799A>T (p.Asp2600Val) c.635A>T (p.Asp212Val) c.8176A>T (n.8176A>T) c.733A>T c.8072A>T (p.Asp2691Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363371T>A | CA16614371 | BRCA2 | c.8169T>A (p.Asp2723Glu) c.7800T>A (p.Asp2600Glu) c.636T>A (p.Asp212Glu) c.8177T>A (n.8177T>A) c.734T>A c.8073T>A (p.Asp2691Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363371T>C | CA483439587 | BRCA2 | c.8169T>C (p.Asp2723=) c.7800T>C (p.Asp2600=) c.636T>C (p.Asp212=) c.8177T>C (n.8177T>C) c.734T>C c.8073T>C (p.Asp2691=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363371T>G | CA387749594 | BRCA2 | c.8169T>G (p.Asp2723Glu) c.7800T>G (p.Asp2600Glu) c.636T>G (p.Asp212Glu) c.8177T>G (n.8177T>G) c.734T>G c.8073T>G (p.Asp2691Glu) | |
13 | g.32363371T= | CA2082835924 | BRCA2 | c.8169T= (p.Asp2723=) c.7800T= (p.Asp2600=) c.636T= (p.Asp212=) c.8177T= (n.8177T=) c.734T= c.8073T= (p.Asp2691=) | |
13 | g.32363371_32363372delinsTG | CA2082835931 | BRCA2 | c.8169_8170delinsTG (p.Asp2723=) c.7800_7801delinsTG (p.Asp2600=) c.636_637delinsTG (p.Asp212=) c.8177_8178delinsTG (n.8177_8178delinsTG) c.734_735delinsTG c.8073_8074delinsTG (p.Asp2691=) | |
13 | g.32363374_32363377dup | CA025489 | BRCA2 | c.8172_8175dup (p.Tyr2726ValfsTer5) c.7803_7806dup (p.Tyr2603ValfsTer5) c.639_642dup (p.Tyr215ValfsTer5) c.8180_8183dup (n.8180_8183dup) c.737_740dup c.8076_8079dup (p.Tyr2694ValfsTer5) | ClinVar dbSNP |
13 | g.32363372G>A | CA387749597 | BRCA2 | c.8170G>A (p.Gly2724Arg) c.7801G>A (p.Gly2601Arg) c.637G>A (p.Gly213Arg) c.8178G>A (n.8178G>A) c.735G>A c.8074G>A (p.Gly2692Arg) | ClinVar dbSNP |
13 | g.32363372G>C | CA387749599 | BRCA2 | c.8170G>C (p.Gly2724Arg) c.7801G>C (p.Gly2601Arg) c.637G>C (p.Gly213Arg) c.8178G>C (n.8178G>C) c.735G>C c.8074G>C (p.Gly2692Arg) | dbSNP |
13 | g.32363372G= | CA2082835941 | BRCA2 | c.8170G= (p.Gly2724=) c.7801G= (p.Gly2601=) c.637G= (p.Gly213=) c.8178G= (n.8178G=) c.735G= c.8074G= (p.Gly2692=) | |
13 | g.32363372G>T | CA16607488 | BRCA2 | c.8170G>T (p.Gly2724Trp) c.7801G>T (p.Gly2601Trp) c.637G>T (p.Gly213Trp) c.8178G>T (n.8178G>T) c.735G>T c.8074G>T (p.Gly2692Trp) | ClinVar dbSNP gnomAD v4 |
13 | g.32363374del | CA919242797 | BRCA2 | c.8172del (p.Trp2725GlyfsTer8) c.7803del (p.Trp2602GlyfsTer8) c.639del (p.Trp214GlyfsTer8) c.8180del (n.8180del) c.737del c.8076del (p.Trp2693GlyfsTer8) | ClinVar dbSNP |
13 | g.32363373G>A | CA387749602 | BRCA2 | c.8171G>A (p.Gly2724Glu) c.7802G>A (p.Gly2601Glu) c.638G>A (p.Gly213Glu) c.8179G>A (n.8179G>A) c.736G>A c.8075G>A (p.Gly2692Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363373G>C | CA387749604 | BRCA2 | c.8171G>C (p.Gly2724Ala) c.7802G>C (p.Gly2601Ala) c.638G>C (p.Gly213Ala) c.8179G>C (n.8179G>C) c.736G>C c.8075G>C (p.Gly2692Ala) | dbSNP gnomAD v4 |
13 | g.32363373G= | CA2082835944 | BRCA2 | c.8171G= (p.Gly2724=) c.7802G= (p.Gly2601=) c.638G= (p.Gly213=) c.8179G= (n.8179G=) c.736G= c.8075G= (p.Gly2692=) | |
13 | g.32363373G>T | CA025486 | BRCA2 | c.8171G>T (p.Gly2724Val) c.7802G>T (p.Gly2601Val) c.638G>T (p.Gly213Val) c.8179G>T (n.8179G>T) c.736G>T c.8075G>T (p.Gly2692Val) | ClinVar dbSNP |
13 | g.32363373_32363383delinsGGTGGTATGCT | CA2082835951 | BRCA2 | c.8171_8181delinsGGTGGTATGCT (p.Gly2724=) c.7802_7812delinsGGTGGTATGCT (p.Gly2601=) c.638_648delinsGGTGGTATGCT (p.Gly213=) c.8179_8189delinsGGTGGTATGCT (n.8179_8189delinsGGTGGTATGCT) c.736_746delinsGGTGGTATGCT c.8075_8085delinsGGTGGTATGCT (p.Gly2692=) | |
13 | g.32363374G>A | CA10579770 | BRCA2 | c.8172G>A (p.Gly2724=) c.7803G>A (p.Gly2601=) c.639G>A (p.Gly213=) c.8180G>A (n.8180G>A) c.737G>A c.8076G>A (p.Gly2692=) | ClinVar dbSNP |
13 | g.32363374G>C | CA483439588 | BRCA2 | c.8172G>C (p.Gly2724=) c.7803G>C (p.Gly2601=) c.639G>C (p.Gly213=) c.8180G>C (n.8180G>C) c.737G>C c.8076G>C (p.Gly2692=) | dbSNP |
13 | g.32363374G= | CA2082835968 | BRCA2 | c.8172G= (p.Gly2724=) c.7803G= (p.Gly2601=) c.639G= (p.Gly213=) c.8180G= (n.8180G=) c.737G= c.8076G= (p.Gly2692=) | |
13 | g.32363374G>T | CA483439589 | BRCA2 | c.8172G>T (p.Gly2724=) c.7803G>T (p.Gly2601=) c.639G>T (p.Gly213=) c.8180G>T (n.8180G>T) c.737G>T c.8076G>T (p.Gly2692=) | ClinVar dbSNP |
13 | g.32363376_32363385del | CA2082835956 | BRCA2 | c.8174_8183del (p.Trp2725LeufsTer5) c.7805_7814del (p.Trp2602LeufsTer5) c.641_650del (p.Trp214LeufsTer5) c.8182_8191del (n.8182_8191del) c.739_748del c.8078_8087del (p.Trp2693LeufsTer5) | dbSNP |
13 | g.32363375T>A | CA387749608 | BRCA2 | c.8173T>A (p.Trp2725Arg) c.7804T>A (p.Trp2602Arg) c.640T>A (p.Trp214Arg) c.8181T>A (n.8181T>A) c.738T>A c.8077T>A (p.Trp2693Arg) | |
13 | g.32363375T>C | CA387749610 | BRCA2 | c.8173T>C (p.Trp2725Arg) c.7804T>C (p.Trp2602Arg) c.640T>C (p.Trp214Arg) c.8181T>C (n.8181T>C) c.738T>C c.8077T>C (p.Trp2693Arg) | ClinVar |
13 | g.32363375T>G | CA387749612 | BRCA2 | c.8173T>G (p.Trp2725Gly) c.7804T>G (p.Trp2602Gly) c.640T>G (p.Trp214Gly) c.8181T>G (n.8181T>G) c.738T>G c.8077T>G (p.Trp2693Gly) | ClinVar dbSNP |
13 | g.32363375_32363384delinsTGGTATGCTG | CA2082835976 | BRCA2 | c.8173_8182delinsTGGTATGCTG (p.Trp2725=) c.7804_7813delinsTGGTATGCTG (p.Trp2602=) c.640_649delinsTGGTATGCTG (p.Trp214=) c.8181_8190delinsTGGTATGCTG (n.8181_8190delinsTGGTATGCTG) c.738_747delinsTGGTATGCTG c.8077_8086delinsTGGTATGCTG (p.Trp2693=) | |
13 | g.32363375_32363387delinsTGGTATGCTGTTA | CA2082835974 | BRCA2 | c.8173_8185delinsTGGTATGCTGTTA (p.Trp2725=) c.7804_7816delinsTGGTATGCTGTTA (p.Trp2602=) c.640_652delinsTGGTATGCTGTTA (p.Trp214=) c.8181_8193delinsTGGTATGCTGTTA (n.8181_8193delinsTGGTATGCTGTTA) c.738_750delinsTGGTATGCTGTTA c.8077_8089delinsTGGTATGCTGTTA (p.Trp2693=) | |
13 | g.32363376G>A | CA025488 | BRCA2 | c.8174G>A (p.Trp2725Ter) c.7805G>A (p.Trp2602Ter) c.641G>A (p.Trp214Ter) c.8182G>A (n.8182G>A) c.739G>A c.8078G>A (p.Trp2693Ter) | ClinVar dbSNP |
13 | g.32363376G>C | CA387749616 | BRCA2 | c.8174G>C (p.Trp2725Ser) c.7805G>C (p.Trp2602Ser) c.641G>C (p.Trp214Ser) c.8182G>C (n.8182G>C) c.739G>C c.8078G>C (p.Trp2693Ser) | dbSNP |
13 | g.32363376G= | CA2082835989 | BRCA2 | c.8174G= (p.Trp2725=) c.7805G= (p.Trp2602=) c.641G= (p.Trp214=) c.8182G= (n.8182G=) c.739G= c.8078G= (p.Trp2693=) | |
13 | g.32363376G>T | CA387749613 | BRCA2 | c.8174G>T (p.Trp2725Leu) c.7805G>T (p.Trp2602Leu) c.641G>T (p.Trp214Leu) c.8182G>T (n.8182G>T) c.739G>T c.8078G>T (p.Trp2693Leu) | ClinVar dbSNP |
13 | g.32363377del | CA2499222321 | BRCA2 | c.8175del (p.Trp2725CysfsTer8) c.7806del (p.Trp2602CysfsTer8) c.642del (p.Trp214CysfsTer8) c.8183del (n.8183del) c.740del c.8079del (p.Trp2693CysfsTer8) | ClinVar |
13 | g.32363376_32363384del | CA954700683 | BRCA2 | c.8174_8182del (p.Trp2725_Val2728delinsPhe) c.7805_7813del (p.Trp2602_Val2605delinsPhe) c.641_649del (p.Trp214_Val217delinsPhe) c.8182_8190del (n.8182_8190del) c.739_747del c.8078_8086del (p.Trp2693_Val2696delinsPhe) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363376_32363387delinsTT | CA025487 | BRCA2 | c.8174_8185delinsTT (p.Trp2725PhefsTer5) c.7805_7816delinsTT (p.Trp2602PhefsTer5) c.641_652delinsTT (p.Trp214PhefsTer5) c.8182_8193delinsTT (n.8182_8193delinsTT) c.739_750delinsTT c.8078_8089delinsTT (p.Trp2693PhefsTer5) | ClinVar dbSNP |
13 | g.32363377G>A | CA025490 | BRCA2 | c.8175G>A (p.Trp2725Ter) c.7806G>A (p.Trp2602Ter) c.642G>A (p.Trp214Ter) c.8183G>A (n.8183G>A) c.740G>A c.8079G>A (p.Trp2693Ter) | ClinVar dbSNP |
13 | g.32363377G>C | CA387749620 | BRCA2 | c.8175G>C (p.Trp2725Cys) c.7806G>C (p.Trp2602Cys) c.642G>C (p.Trp214Cys) c.8183G>C (n.8183G>C) c.740G>C c.8079G>C (p.Trp2693Cys) | dbSNP |
13 | g.32363377G= | CA2082836011 | BRCA2 | c.8175G= (p.Trp2725=) c.7806G= (p.Trp2602=) c.642G= (p.Trp214=) c.8183G= (n.8183G=) c.740G= c.8079G= (p.Trp2693=) | |
13 | g.32363377G>T | CA387749622 | BRCA2 | c.8175G>T (p.Trp2725Cys) c.7806G>T (p.Trp2602Cys) c.642G>T (p.Trp214Cys) c.8183G>T (n.8183G>T) c.740G>T c.8079G>T (p.Trp2693Cys) | dbSNP |
13 | g.32363378T>A | CA387749624 | BRCA2 | c.8176T>A (p.Tyr2726Asn) c.7807T>A (p.Tyr2603Asn) c.643T>A (p.Tyr215Asn) c.8184T>A (n.8184T>A) c.741T>A c.8080T>A (p.Tyr2694Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32363378T>C | CA387749626 | BRCA2 | c.8176T>C (p.Tyr2726His) c.7807T>C (p.Tyr2603His) c.643T>C (p.Tyr215His) c.8184T>C (n.8184T>C) c.741T>C c.8080T>C (p.Tyr2694His) | dbSNP |
13 | g.32363378T>G | CA387749628 | BRCA2 | c.8176T>G (p.Tyr2726Asp) c.7807T>G (p.Tyr2603Asp) c.643T>G (p.Tyr215Asp) c.8184T>G (n.8184T>G) c.741T>G c.8080T>G (p.Tyr2694Asp) | dbSNP |
13 | g.32363379A= | CA2082836025 | BRCA2 | c.8177A= (p.Tyr2726=) c.7808A= (p.Tyr2603=) c.644A= (p.Tyr215=) c.8185A= (n.8185A=) c.742A= c.8081A= (p.Tyr2694=) | |
13 | g.32363379A>C | CA387749630 | BRCA2 | c.8177A>C (p.Tyr2726Ser) c.7808A>C (p.Tyr2603Ser) c.644A>C (p.Tyr215Ser) c.8185A>C (n.8185A>C) c.742A>C c.8081A>C (p.Tyr2694Ser) | dbSNP |
13 | g.32363379A>G | CA025491 | BRCA2 | c.8177A>G (p.Tyr2726Cys) c.7808A>G (p.Tyr2603Cys) c.644A>G (p.Tyr215Cys) c.8185A>G (n.8185A>G) c.742A>G c.8081A>G (p.Tyr2694Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363379A>T | CA387749633 | BRCA2 | c.8177A>T (p.Tyr2726Phe) c.7808A>T (p.Tyr2603Phe) c.644A>T (p.Tyr215Phe) c.8185A>T (n.8185A>T) c.742A>T c.8081A>T (p.Tyr2694Phe) | ClinVar dbSNP |
13 | g.32363380T>A | CA10586587 | BRCA2 | c.8178T>A (p.Tyr2726Ter) c.7809T>A (p.Tyr2603Ter) c.645T>A (p.Tyr215Ter) c.8186T>A (n.8186T>A) c.743T>A c.8082T>A (p.Tyr2694Ter) | ClinVar dbSNP |
13 | g.32363380T>C | CA6941195 | BRCA2 | c.8178T>C (p.Tyr2726=) c.7809T>C (p.Tyr2603=) c.645T>C (p.Tyr215=) c.8186T>C (n.8186T>C) c.743T>C c.8082T>C (p.Tyr2694=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363380T>G | CA387749637 | BRCA2 | c.8178T>G (p.Tyr2726Ter) c.7809T>G (p.Tyr2603Ter) c.645T>G (p.Tyr215Ter) c.8186T>G (n.8186T>G) c.743T>G c.8082T>G (p.Tyr2694Ter) | |
13 | g.32363380T= | CA2082836042 | BRCA2 | c.8178T= (p.Tyr2726=) c.7809T= (p.Tyr2603=) c.645T= (p.Tyr215=) c.8186T= (n.8186T=) c.743T= c.8082T= (p.Tyr2694=) | |
13 | g.32363380_32363389delinsTGCTGTTAAG | CA2082836036 | BRCA2 | c.8178_8187delinsTGCTGTTAAG (p.Tyr2726=) c.7809_7818delinsTGCTGTTAAG (p.Tyr2603=) c.645_654delinsTGCTGTTAAG (p.Tyr215=) c.8186_8195delinsTGCTGTTAAG (n.8186_8195delinsTGCTGTTAAG) c.743_752delinsTGCTGTTAAG c.8082_8091delinsTGCTGTTAAG (p.Tyr2694=) | |
13 | g.32363381G>A | CA387749643 | BRCA2 | c.8179G>A (p.Ala2727Thr) c.7810G>A (p.Ala2604Thr) c.646G>A (p.Ala216Thr) c.8187G>A (n.8187G>A) c.744G>A c.8083G>A (p.Ala2695Thr) | ClinVar dbSNP |
13 | g.32363381G>C | CA387749640 | BRCA2 | c.8179G>C (p.Ala2727Pro) c.7810G>C (p.Ala2604Pro) c.646G>C (p.Ala216Pro) c.8187G>C (n.8187G>C) c.744G>C c.8083G>C (p.Ala2695Pro) | dbSNP |
13 | g.32363381G= | CA2082836056 | BRCA2 | c.8179G= (p.Ala2727=) c.7810G= (p.Ala2604=) c.646G= (p.Ala216=) c.8187G= (n.8187G=) c.744G= c.8083G= (p.Ala2695=) | |
13 | g.32363381G>T | CA025492 | BRCA2 | c.8179G>T (p.Ala2727Ser) c.7810G>T (p.Ala2604Ser) c.646G>T (p.Ala216Ser) c.8187G>T (n.8187G>T) c.744G>T c.8083G>T (p.Ala2695Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363383_32363391del | CA025493 | BRCA2 | c.8181_8189del (p.Val2728_Ala2730del) c.7812_7820del (p.Val2605_Ala2607del) c.648_656del (p.Val217_Ala219del) c.8189_8197del (n.8189_8197del) c.746_754del c.8085_8093del (p.Val2696_Ala2698del) | ClinVar dbSNP |
13 | g.32363382C>A | CA387749646 | BRCA2 | c.8180C>A (p.Ala2727Asp) c.7811C>A (p.Ala2604Asp) c.647C>A (p.Ala216Asp) c.8188C>A (n.8188C>A) c.745C>A c.8084C>A (p.Ala2695Asp) | dbSNP |
13 | g.32363382C= | CA2082836066 | BRCA2 | c.8180C= (p.Ala2727=) c.7811C= (p.Ala2604=) c.647C= (p.Ala216=) c.8188C= (n.8188C=) c.745C= c.8084C= (p.Ala2695=) | |
13 | g.32363382C>G | CA10586083 | BRCA2 | c.8180C>G (p.Ala2727Gly) c.7811C>G (p.Ala2604Gly) c.647C>G (p.Ala216Gly) c.8188C>G (n.8188C>G) c.745C>G c.8084C>G (p.Ala2695Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363382C>T | CA387749648 | BRCA2 | c.8180C>T (p.Ala2727Val) c.7811C>T (p.Ala2604Val) c.647C>T (p.Ala216Val) c.8188C>T (n.8188C>T) c.745C>T c.8084C>T (p.Ala2695Val) | ClinVar dbSNP |
13 | g.32363383del | CA2695199720 | BRCA2 | c.8181del (p.Val2728LeufsTer5) c.7812del (p.Val2605LeufsTer5) c.648del (p.Val217LeufsTer5) c.8189del (n.8189del) c.746del c.8085del (p.Val2696LeufsTer5) | ClinVar |
13 | g.32363383T>A | CA483439593 | BRCA2 | c.8181T>A (p.Ala2727=) c.7812T>A (p.Ala2604=) c.648T>A (p.Ala216=) c.8189T>A (n.8189T>A) c.746T>A c.8085T>A (p.Ala2695=) | dbSNP |
13 | g.32363383T>C | CA483439594 | BRCA2 | c.8181T>C (p.Ala2727=) c.7812T>C (p.Ala2604=) c.648T>C (p.Ala216=) c.8189T>C (n.8189T>C) c.746T>C c.8085T>C (p.Ala2695=) | |
13 | g.32363383T>G | CA483439595 | BRCA2 | c.8181T>G (p.Ala2727=) c.7812T>G (p.Ala2604=) c.648T>G (p.Ala216=) c.8189T>G (n.8189T>G) c.746T>G c.8085T>G (p.Ala2695=) | |
13 | g.32363384G>A | CA025494 | BRCA2 | c.8182G>A (p.Val2728Ile) c.7813G>A (p.Val2605Ile) c.649G>A (p.Val217Ile) c.8190G>A (n.8190G>A) c.747G>A c.8086G>A (p.Val2696Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363384G>C | CA025495 | BRCA2 | c.8182G>C (p.Val2728Leu) c.7813G>C (p.Val2605Leu) c.649G>C (p.Val217Leu) c.8190G>C (n.8190G>C) c.747G>C c.8086G>C (p.Val2696Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363384G= | CA2082836077 | BRCA2 | c.8182G= (p.Val2728=) c.7813G= (p.Val2605=) c.649G= (p.Val217=) c.8190G= (n.8190G=) c.747G= c.8086G= (p.Val2696=) | |
13 | g.32363384G>T | CA387749652 | BRCA2 | c.8182G>T (p.Val2728Phe) c.7813G>T (p.Val2605Phe) c.649G>T (p.Val217Phe) c.8190G>T (n.8190G>T) c.747G>T c.8086G>T (p.Val2696Phe) | ClinVar |
13 | g.32363385T>A | CA387749655 | BRCA2 | c.8183T>A (p.Val2728Asp) c.7814T>A (p.Val2605Asp) c.650T>A (p.Val217Asp) c.8191T>A (n.8191T>A) c.748T>A c.8087T>A (p.Val2696Asp) | dbSNP |
13 | g.32363385T>C | CA025496 | BRCA2 | c.8183T>C (p.Val2728Ala) c.7814T>C (p.Val2605Ala) c.650T>C (p.Val217Ala) c.8191T>C (n.8191T>C) c.748T>C c.8087T>C (p.Val2696Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363385T>G | CA387749657 | BRCA2 | c.8183T>G (p.Val2728Gly) c.7814T>G (p.Val2605Gly) c.650T>G (p.Val217Gly) c.8191T>G (n.8191T>G) c.748T>G c.8087T>G (p.Val2696Gly) | dbSNP |
13 | g.32363385T= | CA2082836093 | BRCA2 | c.8183T= (p.Val2728=) c.7814T= (p.Val2605=) c.650T= (p.Val217=) c.8191T= (n.8191T=) c.748T= c.8087T= (p.Val2696=) | |
13 | g.32363386T>A | CA483439597 | BRCA2 | c.8184T>A (p.Val2728=) c.7815T>A (p.Val2605=) c.651T>A (p.Val217=) c.8192T>A (n.8192T>A) c.749T>A c.8088T>A (p.Val2696=) | |
13 | g.32363386T>C | CA483439598 | BRCA2 | c.8184T>C (p.Val2728=) c.7815T>C (p.Val2605=) c.651T>C (p.Val217=) c.8192T>C (n.8192T>C) c.749T>C c.8088T>C (p.Val2696=) | ClinVar dbSNP |
13 | g.32363386T>G | CA483439599 | BRCA2 | c.8184T>G (p.Val2728=) c.7815T>G (p.Val2605=) c.651T>G (p.Val217=) c.8192T>G (n.8192T>G) c.749T>G c.8088T>G (p.Val2696=) | |
13 | g.32363386_32363387delinsTA | CA2082836098 | BRCA2 | c.8184_8185delinsTA (p.Val2728=) c.7815_7816delinsTA (p.Val2605=) c.651_652delinsTA (p.Val217=) c.8192_8193delinsTA (n.8192_8193delinsTA) c.749_750delinsTA c.8088_8089delinsTA (p.Val2696=) | |
13 | g.32363387A= | CA2082836105 | BRCA2 | c.8185A= (p.Lys2729=) c.7816A= (p.Lys2606=) c.652A= (p.Lys218=) c.8193A= (n.8193A=) c.750A= c.8089A= (p.Lys2697=) | |
13 | g.32363387A>C | CA387749660 | BRCA2 | c.8185A>C (p.Lys2729Gln) c.7816A>C (p.Lys2606Gln) c.652A>C (p.Lys218Gln) c.8193A>C (n.8193A>C) c.750A>C c.8089A>C (p.Lys2697Gln) | |
13 | g.32363387A>G | CA387749662 | BRCA2 | c.8185A>G (p.Lys2729Glu) c.7816A>G (p.Lys2606Glu) c.652A>G (p.Lys218Glu) c.8193A>G (n.8193A>G) c.750A>G c.8089A>G (p.Lys2697Glu) | |
13 | g.32363387A>T | CA387749663 | BRCA2 | c.8185A>T (p.Lys2729Ter) c.7816A>T (p.Lys2606Ter) c.652A>T (p.Lys218Ter) c.8193A>T (n.8193A>T) c.750A>T c.8089A>T (p.Lys2697Ter) | dbSNP |
13 | g.32363388del | CA954700713 | BRCA2 | c.8186del (p.Lys2729ArgfsTer4) c.7817del (p.Lys2606ArgfsTer4) c.653del (p.Lys218ArgfsTer4) c.8194del (n.8194del) c.751del c.8090del (p.Lys2697ArgfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363388A= | CA2082836107 | BRCA2 | c.8186A= (p.Lys2729=) c.7817A= (p.Lys2606=) c.653A= (p.Lys218=) c.8194A= (n.8194A=) c.751A= c.8090A= (p.Lys2697=) | |
13 | g.32363388A>C | CA387749668 | BRCA2 | c.8186A>C (p.Lys2729Thr) c.7817A>C (p.Lys2606Thr) c.653A>C (p.Lys218Thr) c.8194A>C (n.8194A>C) c.751A>C c.8090A>C (p.Lys2697Thr) | |
13 | g.32363388A>G | CA6941196 | BRCA2 | c.8186A>G (p.Lys2729Arg) c.7817A>G (p.Lys2606Arg) c.653A>G (p.Lys218Arg) c.8194A>G (n.8194A>G) c.751A>G c.8090A>G (p.Lys2697Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363388A>T | CA387749666 | BRCA2 | c.8186A>T (p.Lys2729Met) c.7817A>T (p.Lys2606Met) c.653A>T (p.Lys218Met) c.8194A>T (n.8194A>T) c.751A>T c.8090A>T (p.Lys2697Met) | |
13 | g.32363389G>A | CA025497 | BRCA2 | c.8187G>A (p.Lys2729=) c.7818G>A (p.Lys2606=) c.654G>A (p.Lys218=) c.8195G>A (n.8195G>A) c.752G>A c.8091G>A (p.Lys2697=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363389G>C | CA387749672 | BRCA2 | c.8187G>C (p.Lys2729Asn) c.7818G>C (p.Lys2606Asn) c.654G>C (p.Lys218Asn) c.8195G>C (n.8195G>C) c.752G>C c.8091G>C (p.Lys2697Asn) | dbSNP |
13 | g.32363389G= | CA2082836122 | BRCA2 | c.8187G= (p.Lys2729=) c.7818G= (p.Lys2606=) c.654G= (p.Lys218=) c.8195G= (n.8195G=) c.752G= c.8091G= (p.Lys2697=) | |
13 | g.32363389G>T | CA025498 | BRCA2 | c.8187G>T (p.Lys2729Asn) c.7818G>T (p.Lys2606Asn) c.654G>T (p.Lys218Asn) c.8195G>T (n.8195G>T) c.752G>T c.8091G>T (p.Lys2697Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363390G>A | CA387749675 | BRCA2 | c.8188G>A (p.Ala2730Thr) c.7819G>A (p.Ala2607Thr) c.655G>A (p.Ala219Thr) c.8196G>A (n.8196G>A) c.753G>A c.8092G>A (p.Ala2698Thr) | ClinVar dbSNP |
13 | g.32363390G>C | CA025499 | BRCA2 | c.8188G>C (p.Ala2730Pro) c.7819G>C (p.Ala2607Pro) c.655G>C (p.Ala219Pro) c.8196G>C (n.8196G>C) c.753G>C c.8092G>C (p.Ala2698Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363390G= | CA2082836131 | BRCA2 | c.8188G= (p.Ala2730=) c.7819G= (p.Ala2607=) c.655G= (p.Ala219=) c.8196G= (n.8196G=) c.753G= c.8092G= (p.Ala2698=) | |
13 | g.32363390G>T | CA387749677 | BRCA2 | c.8188G>T (p.Ala2730Ser) c.7819G>T (p.Ala2607Ser) c.655G>T (p.Ala219Ser) c.8196G>T (n.8196G>T) c.753G>T c.8092G>T (p.Ala2698Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32363390_32363391delinsGC | CA2082836140 | BRCA2 | c.8188_8189delinsGC (p.Ala2730=) c.7819_7820delinsGC (p.Ala2607=) c.655_656delinsGC (p.Ala219=) c.8196_8197delinsGC (n.8196_8197delinsGC) c.753_754delinsGC c.8092_8093delinsGC (p.Ala2698=) | |
13 | g.32363391C>A | CA387749680 | BRCA2 | c.8189C>A (p.Ala2730Asp) c.7820C>A (p.Ala2607Asp) c.656C>A (p.Ala219Asp) c.8197C>A (n.8197C>A) c.754C>A c.8093C>A (p.Ala2698Asp) | dbSNP |
13 | g.32363391C= | CA2082836152 | BRCA2 | c.8189C= (p.Ala2730=) c.7820C= (p.Ala2607=) c.656C= (p.Ala219=) c.8197C= (n.8197C=) c.754C= c.8093C= (p.Ala2698=) | |
13 | g.32363391C>G | CA387749682 | BRCA2 | c.8189C>G (p.Ala2730Gly) c.7820C>G (p.Ala2607Gly) c.656C>G (p.Ala219Gly) c.8197C>G (n.8197C>G) c.754C>G c.8093C>G (p.Ala2698Gly) | ClinVar dbSNP |
13 | g.32363391C>T | CA025500 | BRCA2 | c.8189C>T (p.Ala2730Val) c.7820C>T (p.Ala2607Val) c.656C>T (p.Ala219Val) c.8197C>T (n.8197C>T) c.754C>T c.8093C>T (p.Ala2698Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363393del | CA658798132 | BRCA2 | c.8191del (p.Gln2731SerfsTer2) c.7822del (p.Gln2608SerfsTer2) c.658del (p.Gln220SerfsTer2) c.8199del (n.8199del) c.756del c.8095del (p.Gln2699SerfsTer2) | ClinVar dbSNP |
13 | g.32363392C>A | CA483439603 | BRCA2 | c.8190C>A (p.Ala2730=) c.7821C>A (p.Ala2607=) c.657C>A (p.Ala219=) c.8198C>A (n.8198C>A) c.755C>A c.8094C>A (p.Ala2698=) | dbSNP |
13 | g.32363392C>G | CA483439604 | BRCA2 | c.8190C>G (p.Ala2730=) c.7821C>G (p.Ala2607=) c.657C>G (p.Ala219=) c.8198C>G (n.8198C>G) c.755C>G c.8094C>G (p.Ala2698=) | dbSNP |
13 | g.32363392C>T | CA483439605 | BRCA2 | c.8190C>T (p.Ala2730=) c.7821C>T (p.Ala2607=) c.657C>T (p.Ala219=) c.8198C>T (n.8198C>T) c.755C>T c.8094C>T (p.Ala2698=) | dbSNP |
13 | g.32363393C>A | CA387749685 | BRCA2 | c.8191C>A (p.Gln2731Lys) c.7822C>A (p.Gln2608Lys) c.658C>A (p.Gln220Lys) c.8199C>A (n.8199C>A) c.756C>A c.8095C>A (p.Gln2699Lys) | ClinVar |
13 | g.32363393C= | CA2082836158 | BRCA2 | c.8191C= (p.Gln2731=) c.7822C= (p.Gln2608=) c.658C= (p.Gln220=) c.8199C= (n.8199C=) c.756C= c.8095C= (p.Gln2699=) | |
13 | g.32363393C>G | CA10583138 | BRCA2 | c.8191C>G (p.Gln2731Glu) c.7822C>G (p.Gln2608Glu) c.658C>G (p.Gln220Glu) c.8199C>G (n.8199C>G) c.756C>G c.8095C>G (p.Gln2699Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32363393C>T | CA025503 | BRCA2 | c.8191C>T (p.Gln2731Ter) c.7822C>T (p.Gln2608Ter) c.658C>T (p.Gln220Ter) c.8199C>T (n.8199C>T) c.756C>T c.8095C>T (p.Gln2699Ter) | ClinVar dbSNP |
13 | g.32363394A= | CA2082836167 | BRCA2 | c.8192A= (p.Gln2731=) c.7823A= (p.Gln2608=) c.659A= (p.Gln220=) c.8200A= (n.8200A=) c.757A= c.8096A= (p.Gln2699=) | |
13 | g.32363394A>C | CA387749689 | BRCA2 | c.8192A>C (p.Gln2731Pro) c.7823A>C (p.Gln2608Pro) c.659A>C (p.Gln220Pro) c.8200A>C (n.8200A>C) c.757A>C c.8096A>C (p.Gln2699Pro) | |
13 | g.32363394A>G | CA6941197 | BRCA2 | c.8192A>G (p.Gln2731Arg) c.7823A>G (p.Gln2608Arg) c.659A>G (p.Gln220Arg) c.8200A>G (n.8200A>G) c.757A>G c.8096A>G (p.Gln2699Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363394A>T | CA387749691 | BRCA2 | c.8192A>T (p.Gln2731Leu) c.7823A>T (p.Gln2608Leu) c.659A>T (p.Gln220Leu) c.8200A>T (n.8200A>T) c.757A>T c.8096A>T (p.Gln2699Leu) | dbSNP |
13 | g.32363395G>A | CA483439606 | BRCA2 | c.8193G>A (p.Gln2731=) c.7824G>A (p.Gln2608=) c.660G>A (p.Gln220=) c.8201G>A (n.8201G>A) c.758G>A c.8097G>A (p.Gln2699=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363395G>C | CA387749694 | BRCA2 | c.8193G>C (p.Gln2731His) c.7824G>C (p.Gln2608His) c.660G>C (p.Gln220His) c.8201G>C (n.8201G>C) c.758G>C c.8097G>C (p.Gln2699His) | ClinVar dbSNP |
13 | g.32363395G= | CA2082836181 | BRCA2 | c.8193G= (p.Gln2731=) c.7824G= (p.Gln2608=) c.660G= (p.Gln220=) c.8201G= (n.8201G=) c.758G= c.8097G= (p.Gln2699=) | |
13 | g.32363395G>T | CA387749695 | BRCA2 | c.8193G>T (p.Gln2731His) c.7824G>T (p.Gln2608His) c.660G>T (p.Gln220His) c.8201G>T (n.8201G>T) c.758G>T c.8097G>T (p.Gln2699His) | |
13 | g.32363395_32363403delinsGTTAGATCC | CA2082836178 | BRCA2 | c.8193_8201delinsGTTAGATCC (p.Gln2731=) c.7824_7832delinsGTTAGATCC (p.Gln2608=) c.660_668delinsGTTAGATCC (p.Gln220=) c.8201_8209delinsGTTAGATCC (n.8201_8209delinsGTTAGATCC) c.758_766delinsGTTAGATCC c.8097_8105delinsGTTAGATCC (p.Gln2699=) | |
13 | g.32363396T>A | CA387749697 | BRCA2 | c.8194T>A (p.Leu2732Ile) c.7825T>A (p.Leu2609Ile) c.661T>A (p.Leu221Ile) c.8202T>A (n.8202T>A) c.759T>A c.8098T>A (p.Leu2700Ile) | dbSNP |
13 | g.32363396T>C | CA16613955 | BRCA2 | c.8194T>C (p.Leu2732=) c.7825T>C (p.Leu2609=) c.661T>C (p.Leu221=) c.8202T>C (n.8202T>C) c.759T>C c.8098T>C (p.Leu2700=) | ClinVar dbSNP |
13 | g.32363396T>G | CA387749699 | BRCA2 | c.8194T>G (p.Leu2732Val) c.7825T>G (p.Leu2609Val) c.661T>G (p.Leu221Val) c.8202T>G (n.8202T>G) c.759T>G c.8098T>G (p.Leu2700Val) | ClinVar dbSNP |
13 | g.32363396T= | CA2082836196 | BRCA2 | c.8194T= (p.Leu2732=) c.7825T= (p.Leu2609=) c.661T= (p.Leu221=) c.8202T= (n.8202T=) c.759T= c.8098T= (p.Leu2700=) | |
13 | g.32363397_32363404del | CA10589472 | BRCA2 | c.8195_8202del (p.Leu2732SerfsTer29) c.7826_7833del (p.Leu2609SerfsTer29) c.662_669del (p.Leu221SerfsTer29) c.8203_8210del (n.8203_8210del) c.760_767del c.8099_8106del (p.Leu2700SerfsTer29) | ClinVar dbSNP |
13 | g.32363397T>A | CA10589471 | BRCA2 | c.8195T>A (p.Leu2732Ter) c.7826T>A (p.Leu2609Ter) c.662T>A (p.Leu221Ter) c.8203T>A (n.8203T>A) c.760T>A c.8099T>A (p.Leu2700Ter) | ClinVar dbSNP |
13 | g.32363397T>C | CA387749702 | BRCA2 | c.8195T>C (p.Leu2732Ser) c.7826T>C (p.Leu2609Ser) c.662T>C (p.Leu221Ser) c.8203T>C (n.8203T>C) c.760T>C c.8099T>C (p.Leu2700Ser) | gnomAD v4 |
13 | g.32363397T>G | CA025504 | BRCA2 | c.8195T>G (p.Leu2732Ter) c.7826T>G (p.Leu2609Ter) c.662T>G (p.Leu221Ter) c.8203T>G (n.8203T>G) c.760T>G c.8099T>G (p.Leu2700Ter) | ClinVar dbSNP |
13 | g.32363397T= | CA2082836206 | BRCA2 | c.8195T= (p.Leu2732=) c.7826T= (p.Leu2609=) c.662T= (p.Leu221=) c.8203T= (n.8203T=) c.760T= c.8099T= (p.Leu2700=) | |
13 | g.32363398A= | CA2082836213 | BRCA2 | c.8196A= (p.Leu2732=) c.7827A= (p.Leu2609=) c.663A= (p.Leu221=) c.8204A= (n.8204A=) c.761A= c.8100A= (p.Leu2700=) | |
13 | g.32363398A>C | CA387749707 | BRCA2 | c.8196A>C (p.Leu2732Phe) c.7827A>C (p.Leu2609Phe) c.663A>C (p.Leu221Phe) c.8204A>C (n.8204A>C) c.761A>C c.8100A>C (p.Leu2700Phe) | |
13 | g.32363398A>G | CA483439608 | BRCA2 | c.8196A>G (p.Leu2732=) c.7827A>G (p.Leu2609=) c.663A>G (p.Leu221=) c.8204A>G (n.8204A>G) c.761A>G c.8100A>G (p.Leu2700=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363398A>T | CA387749705 | BRCA2 | c.8196A>T (p.Leu2732Phe) c.7827A>T (p.Leu2609Phe) c.663A>T (p.Leu221Phe) c.8204A>T (n.8204A>T) c.761A>T c.8100A>T (p.Leu2700Phe) | dbSNP |
13 | g.32363399G>A | CA387749709 | BRCA2 | c.8197G>A (p.Asp2733Asn) c.7828G>A (p.Asp2610Asn) c.664G>A (p.Asp222Asn) c.8205G>A (n.8205G>A) c.762G>A c.8101G>A (p.Asp2701Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363399G>C | CA387749711 | BRCA2 | c.8197G>C (p.Asp2733His) c.7828G>C (p.Asp2610His) c.664G>C (p.Asp222His) c.8205G>C (n.8205G>C) c.762G>C c.8101G>C (p.Asp2701His) | ClinVar dbSNP gnomAD v4 |
13 | g.32363399G= | CA2082836218 | BRCA2 | c.8197G= (p.Asp2733=) c.7828G= (p.Asp2610=) c.664G= (p.Asp222=) c.8205G= (n.8205G=) c.762G= c.8101G= (p.Asp2701=) | |
13 | g.32363399G>T | CA387749713 | BRCA2 | c.8197G>T (p.Asp2733Tyr) c.7828G>T (p.Asp2610Tyr) c.664G>T (p.Asp222Tyr) c.8205G>T (n.8205G>T) c.762G>T c.8101G>T (p.Asp2701Tyr) | dbSNP |
13 | g.32363400A= | CA2082836244 | BRCA2 | c.8198A= (p.Asp2733=) c.7829A= (p.Asp2610=) c.665A= (p.Asp222=) c.8206A= (n.8206A=) c.763A= c.8102A= (p.Asp2701=) | |
13 | g.32363400A>C | CA387749716 | BRCA2 | c.8198A>C (p.Asp2733Ala) c.7829A>C (p.Asp2610Ala) c.665A>C (p.Asp222Ala) c.8206A>C (n.8206A>C) c.763A>C c.8102A>C (p.Asp2701Ala) | |
13 | g.32363400A>G | CA387749717 | BRCA2 | c.8198A>G (p.Asp2733Gly) c.7829A>G (p.Asp2610Gly) c.665A>G (p.Asp222Gly) c.8206A>G (n.8206A>G) c.763A>G c.8102A>G (p.Asp2701Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363400A>T | CA387749719 | BRCA2 | c.8198A>T (p.Asp2733Val) c.7829A>T (p.Asp2610Val) c.665A>T (p.Asp222Val) c.8206A>T (n.8206A>T) c.763A>T c.8102A>T (p.Asp2701Val) | dbSNP |
13 | g.32363400_32363410delinsATCCTCCCCTC | CA2082836223 | BRCA2 | c.8198_8208delinsATCCTCCCCTC (p.Asp2733=) c.7829_7839delinsATCCTCCCCTC (p.Asp2610=) c.665_675delinsATCCTCCCCTC (p.Asp222=) c.8206_8216delinsATCCTCCCCTC (n.8206_8216delinsATCCTCCCCTC) c.763_773delinsATCCTCCCCTC c.8102_8112delinsATCCTCCCCTC (p.Asp2701=) |