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.32363176_32363180del | CA2499222318 | BRCA2 | c.7977-3_7978del c.7608-3_7609del c.444-3_445del c.7985-3_7986del c.542-3_543del c.7881-3_7882del | |
13 | g.32363178_32363179del | CA2798720325 | BRCA2 | c.7977-1_7977del c.7608-1_7608del c.444-1_444del c.7985-1_7985del c.542-1_542del c.7881-1_7881del | |
13 | g.32363177_32363182delinsAGATAT | CA2082833940 | BRCA2 | c.7977-2_7980delinsAGATAT c.7608-2_7611delinsAGATAT c.444-2_447delinsAGATAT c.7985-2_7988delinsAGATAT c.542-2_545delinsAGATAT c.7881-2_7884delinsAGATAT | |
13 | g.32363182_32363186del | CA025379 | BRCA2 | c.7980_7984del c.7611_7615del c.447_451del c.7988_7992del c.545_549del c.7884_7888del | ClinVar dbSNP |
13 | g.32363178_32363191delinsGATATGATACGGAA | CA2082833966 | BRCA2 | c.7977-1_7989delinsGATATGATACGGAA c.7608-1_7620delinsGATATGATACGGAA c.444-1_456delinsGATATGATACGGAA c.7985-1_7997delinsGATATGATACGGAA c.542-1_554delinsGATATGATACGGAA c.7881-1_7893delinsGATATGATACGGAA | |
13 | g.32363179A= | CA2082833978 | BRCA2 | c.7977A= (p.Arg2659=) c.7608A= (p.Arg2536=) c.444A= (p.Arg148=) c.7985A= (n.7985A=) c.542A= c.7881A= (p.Arg2627=) | |
13 | g.32363179A>C | CA387748451 | BRCA2 | c.7977A>C (p.Arg2659Ser) c.7608A>C (p.Arg2536Ser) c.444A>C (p.Arg148Ser) c.7985A>C (n.7985A>C) c.542A>C c.7881A>C (p.Arg2627Ser) | ClinVar dbSNP |
13 | g.32363179A>G | CA6941177 | BRCA2 | c.7977A>G (p.Arg2659=) c.7608A>G (p.Arg2536=) c.444A>G (p.Arg148=) c.7985A>G (n.7985A>G) c.542A>G c.7881A>G (p.Arg2627=) | dbSNP ExAC gnomAD v2 |
13 | g.32363179A>T | CA387748455 | BRCA2 | c.7977A>T (p.Arg2659Ser) c.7608A>T (p.Arg2536Ser) c.444A>T (p.Arg148Ser) c.7985A>T (n.7985A>T) c.542A>T c.7881A>T (p.Arg2627Ser) | ClinVar dbSNP |
13 | g.32363181_32363193del | CA025378 | BRCA2 | c.7979_7991del (p.Tyr2660LeufsTer9) c.7610_7622del (p.Tyr2537LeufsTer9) c.446_458del (p.Tyr149LeufsTer9) c.7987_7999del (n.7987_7999del) c.544_556del c.7883_7895del (p.Tyr2628LeufsTer9) | ClinVar dbSNP gnomAD v4 |
13 | g.32363180T>A | CA387748459 | BRCA2 | c.7978T>A (p.Tyr2660Asn) c.7609T>A (p.Tyr2537Asn) c.445T>A (p.Tyr149Asn) c.7986T>A (n.7986T>A) c.543T>A c.7882T>A (p.Tyr2628Asn) | ClinVar |
13 | g.32363180T>C | CA387748463 | BRCA2 | c.7978T>C (p.Tyr2660His) c.7609T>C (p.Tyr2537His) c.445T>C (p.Tyr149His) c.7986T>C (n.7986T>C) c.543T>C c.7882T>C (p.Tyr2628His) | |
13 | g.32363180T>G | CA025377 | BRCA2 | c.7978T>G (p.Tyr2660Asp) c.7609T>G (p.Tyr2537Asp) c.445T>G (p.Tyr149Asp) c.7986T>G (n.7986T>G) c.543T>G c.7882T>G (p.Tyr2628Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32363180T= | CA2082833996 | BRCA2 | c.7978T= (p.Tyr2660=) c.7609T= (p.Tyr2537=) c.445T= (p.Tyr149=) c.7986T= (n.7986T=) c.543T= c.7882T= (p.Tyr2628=) | |
13 | g.32363181A= | CA2082834023 | BRCA2 | c.7979A= (p.Tyr2660=) c.7610A= (p.Tyr2537=) c.446A= (p.Tyr149=) c.7987A= (n.7987A=) c.544A= c.7883A= (p.Tyr2628=) | |
13 | g.32363181A>C | CA387748464 | BRCA2 | c.7979A>C (p.Tyr2660Ser) c.7610A>C (p.Tyr2537Ser) c.446A>C (p.Tyr149Ser) c.7987A>C (n.7987A>C) c.544A>C c.7883A>C (p.Tyr2628Ser) | |
13 | g.32363181A>G | CA387748465 | BRCA2 | c.7979A>G (p.Tyr2660Cys) c.7610A>G (p.Tyr2537Cys) c.446A>G (p.Tyr149Cys) c.7987A>G (n.7987A>G) c.544A>G c.7883A>G (p.Tyr2628Cys) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32363181A>T | CA387748470 | BRCA2 | c.7979A>T (p.Tyr2660Phe) c.7610A>T (p.Tyr2537Phe) c.446A>T (p.Tyr149Phe) c.7987A>T (n.7987A>T) c.544A>T c.7883A>T (p.Tyr2628Phe) | |
13 | g.32363183_32363185del | CA923726296 | BRCA2 | c.7981_7983del (p.Asp2661del) c.7612_7614del (p.Asp2538del) c.448_450del (p.Asp150del) c.7989_7991del (n.7989_7991del) c.546_548del c.7885_7887del (p.Asp2629del) | ClinVar dbSNP |
13 | g.32363182T>A | CA387748495 | BRCA2 | c.7980T>A (p.Tyr2660Ter) c.7611T>A (p.Tyr2537Ter) c.447T>A (p.Tyr149Ter) c.7988T>A (n.7988T>A) c.545T>A c.7884T>A (p.Tyr2628Ter) | ClinVar dbSNP |
13 | g.32363182T>C | CA025380 | BRCA2 | c.7980T>C (p.Tyr2660=) c.7611T>C (p.Tyr2537=) c.447T>C (p.Tyr149=) c.7988T>C (n.7988T>C) c.545T>C c.7884T>C (p.Tyr2628=) | ClinVar dbSNP |
13 | g.32363182T>G | CA025381 | BRCA2 | c.7980T>G (p.Tyr2660Ter) c.7611T>G (p.Tyr2537Ter) c.447T>G (p.Tyr149Ter) c.7988T>G (n.7988T>G) c.545T>G c.7884T>G (p.Tyr2628Ter) | ClinVar dbSNP |
13 | g.32363182T= | CA2082834042 | BRCA2 | c.7980T= (p.Tyr2660=) c.7611T= (p.Tyr2537=) c.447T= (p.Tyr149=) c.7988T= (n.7988T=) c.545T= c.7884T= (p.Tyr2628=) | |
13 | g.32363183G>A | CA387748498 | BRCA2 | c.7981G>A (p.Asp2661Asn) c.7612G>A (p.Asp2538Asn) c.448G>A (p.Asp150Asn) c.7989G>A (n.7989G>A) c.546G>A c.7885G>A (p.Asp2629Asn) | ClinVar dbSNP gnomAD v2 |
13 | g.32363183G>C | CA387748503 | BRCA2 | c.7981G>C (p.Asp2661His) c.7612G>C (p.Asp2538His) c.448G>C (p.Asp150His) c.7989G>C (n.7989G>C) c.546G>C c.7885G>C (p.Asp2629His) | dbSNP |
13 | g.32363183G= | CA2082834056 | BRCA2 | c.7981G= (p.Asp2661=) c.7612G= (p.Asp2538=) c.448G= (p.Asp150=) c.7989G= (n.7989G=) c.546G= c.7885G= (p.Asp2629=) | |
13 | g.32363183G>T | CA387748508 | BRCA2 | c.7981G>T (p.Asp2661Tyr) c.7612G>T (p.Asp2538Tyr) c.448G>T (p.Asp150Tyr) c.7989G>T (n.7989G>T) c.546G>T c.7885G>T (p.Asp2629Tyr) | |
13 | g.32363183_32363184delinsAC | CA2739277539 | BRCA2 | c.7981_7982delinsAC (p.Asp2661Thr) c.7612_7613delinsAC (p.Asp2538Thr) c.448_449delinsAC (p.Asp150Thr) c.7989_7990delinsAC (n.7989_7990delinsAC) c.546_547delinsAC c.7885_7886delinsAC (p.Asp2629Thr) | ClinVar |
13 | g.32363184A>C | CA387748512 | BRCA2 | c.7982A>C (p.Asp2661Ala) c.7613A>C (p.Asp2538Ala) c.449A>C (p.Asp150Ala) c.7990A>C (n.7990A>C) c.547A>C c.7886A>C (p.Asp2629Ala) | |
13 | g.32363184A>G | CA387748516 | BRCA2 | c.7982A>G (p.Asp2661Gly) c.7613A>G (p.Asp2538Gly) c.449A>G (p.Asp150Gly) c.7990A>G (n.7990A>G) c.547A>G c.7886A>G (p.Asp2629Gly) | ClinVar |
13 | g.32363184A>T | CA387748522 | BRCA2 | c.7982A>T (p.Asp2661Val) c.7613A>T (p.Asp2538Val) c.449A>T (p.Asp150Val) c.7990A>T (n.7990A>T) c.547A>T c.7886A>T (p.Asp2629Val) | ClinVar dbSNP |
13 | g.32363185T>A | CA387748525 | BRCA2 | c.7983T>A (p.Asp2661Glu) c.7614T>A (p.Asp2538Glu) c.450T>A (p.Asp150Glu) c.7991T>A (n.7991T>A) c.548T>A c.7887T>A (p.Asp2629Glu) | |
13 | g.32363185T>C | CA483439424 | BRCA2 | c.7983T>C (p.Asp2661=) c.7614T>C (p.Asp2538=) c.450T>C (p.Asp150=) c.7991T>C (n.7991T>C) c.548T>C c.7887T>C (p.Asp2629=) | |
13 | g.32363185T>G | CA387748526 | BRCA2 | c.7983T>G (p.Asp2661Glu) c.7614T>G (p.Asp2538Glu) c.450T>G (p.Asp150Glu) c.7991T>G (n.7991T>G) c.548T>G c.7887T>G (p.Asp2629Glu) | |
13 | g.32363185T= | CA2082834062 | BRCA2 | c.7983T= (p.Asp2661=) c.7614T= (p.Asp2538=) c.450T= (p.Asp150=) c.7991T= (n.7991T=) c.548T= c.7887T= (p.Asp2629=) | |
13 | g.32363186del | CA2695217950 | BRCA2 | c.7984del (p.Thr2662ArgfsTer11) c.7615del (p.Thr2539ArgfsTer11) c.451del (p.Thr151ArgfsTer11) c.7992del (n.7992del) c.549del c.7888del (p.Thr2630ArgfsTer11) | |
13 | g.32363186A= | CA2082834076 | BRCA2 | c.7984A= (p.Thr2662=) c.7615A= (p.Thr2539=) c.451A= (p.Thr151=) c.7992A= (n.7992A=) c.549A= c.7888A= (p.Thr2630=) | |
13 | g.32363186A>C | CA387748533 | BRCA2 | c.7984A>C (p.Thr2662Pro) c.7615A>C (p.Thr2539Pro) c.451A>C (p.Thr151Pro) c.7992A>C (n.7992A>C) c.549A>C c.7888A>C (p.Thr2630Pro) | ClinVar dbSNP |
13 | g.32363186A>G | CA387748537 | BRCA2 | c.7984A>G (p.Thr2662Ala) c.7615A>G (p.Thr2539Ala) c.451A>G (p.Thr151Ala) c.7992A>G (n.7992A>G) c.549A>G c.7888A>G (p.Thr2630Ala) | ClinVar dbSNP |
13 | g.32363186A>T | CA387748531 | BRCA2 | c.7984A>T (p.Thr2662Ser) c.7615A>T (p.Thr2539Ser) c.451A>T (p.Thr151Ser) c.7992A>T (n.7992A>T) c.549A>T c.7888A>T (p.Thr2630Ser) | dbSNP |
13 | g.32363186dup | CA10589461 | BRCA2 | c.7984dup (p.Thr2662AsnfsTer4) c.7615dup (p.Thr2539AsnfsTer4) c.451dup (p.Thr151AsnfsTer4) c.7992dup (n.7992dup) c.549dup c.7888dup (p.Thr2630AsnfsTer4) | ClinVar dbSNP |
13 | g.32363187C>A | CA025382 | BRCA2 | c.7985C>A (p.Thr2662Lys) c.7616C>A (p.Thr2539Lys) c.452C>A (p.Thr151Lys) c.7993C>A (n.7993C>A) c.550C>A c.7889C>A (p.Thr2630Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363187C= | CA2082834105 | BRCA2 | c.7985C= (p.Thr2662=) c.7616C= (p.Thr2539=) c.452C= (p.Thr151=) c.7993C= (n.7993C=) c.550C= c.7889C= (p.Thr2630=) | |
13 | g.32363187C>G | CA387748541 | BRCA2 | c.7985C>G (p.Thr2662Arg) c.7616C>G (p.Thr2539Arg) c.452C>G (p.Thr151Arg) c.7993C>G (n.7993C>G) c.550C>G c.7889C>G (p.Thr2630Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363187C>T | CA025383 | BRCA2 | c.7985C>T (p.Thr2662Met) c.7616C>T (p.Thr2539Met) c.452C>T (p.Thr151Met) c.7993C>T (n.7993C>T) c.550C>T c.7889C>T (p.Thr2630Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363187dup | CA658656343 | BRCA2 | c.7985dup (p.Glu2663GlyfsTer3) c.7616dup (p.Glu2540GlyfsTer3) c.452dup (p.Glu152GlyfsTer3) c.7993dup (n.7993dup) c.550dup c.7889dup (p.Glu2631GlyfsTer3) | ClinVar dbSNP |
13 | g.32363187_32363188delinsCG | CA2082834109 | BRCA2 | c.7985_7986delinsCG (p.Thr2662=) c.7616_7617delinsCG (p.Thr2539=) c.452_453delinsCG (p.Thr151=) c.7993_7994delinsCG (n.7993_7994delinsCG) c.550_551delinsCG c.7889_7890delinsCG (p.Thr2630=) | |
13 | g.32363188G>A | CA16606442 | BRCA2 | c.7986G>A (p.Thr2662=) c.7617G>A (p.Thr2539=) c.453G>A (p.Thr151=) c.7994G>A (n.7994G>A) c.551G>A c.7890G>A (p.Thr2630=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363188G>C | CA483439425 | BRCA2 | c.7986G>C (p.Thr2662=) c.7617G>C (p.Thr2539=) c.453G>C (p.Thr151=) c.7994G>C (n.7994G>C) c.551G>C c.7890G>C (p.Thr2630=) | dbSNP |
13 | g.32363188G= | CA2082834116 | BRCA2 | c.7986G= (p.Thr2662=) c.7617G= (p.Thr2539=) c.453G= (p.Thr151=) c.7994G= (n.7994G=) c.551G= c.7890G= (p.Thr2630=) | |
13 | g.32363188G>T | CA483439426 | BRCA2 | c.7986G>T (p.Thr2662=) c.7617G>T (p.Thr2539=) c.453G>T (p.Thr151=) c.7994G>T (n.7994G>T) c.551G>T c.7890G>T (p.Thr2630=) | dbSNP |
13 | g.32363189del | CA10589462 | BRCA2 | c.7987del (p.Glu2663LysfsTer10) c.7618del (p.Glu2540LysfsTer10) c.454del (p.Glu152LysfsTer10) c.7995del (n.7995del) c.552del c.7891del (p.Glu2631LysfsTer10) | ClinVar dbSNP |
13 | g.32363189G>A | CA025384 | BRCA2 | c.7987G>A (p.Glu2663Lys) c.7618G>A (p.Glu2540Lys) c.454G>A (p.Glu152Lys) c.7995G>A (n.7995G>A) c.552G>A c.7891G>A (p.Glu2631Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363189G>C | CA387748550 | BRCA2 | c.7987G>C (p.Glu2663Gln) c.7618G>C (p.Glu2540Gln) c.454G>C (p.Glu152Gln) c.7995G>C (n.7995G>C) c.552G>C c.7891G>C (p.Glu2631Gln) | dbSNP |
13 | g.32363189G= | CA2082834130 | BRCA2 | c.7987G= (p.Glu2663=) c.7618G= (p.Glu2540=) c.454G= (p.Glu152=) c.7995G= (n.7995G=) c.552G= c.7891G= (p.Glu2631=) | |
13 | g.32363189G>T | CA10586584 | BRCA2 | c.7987G>T (p.Glu2663Ter) c.7618G>T (p.Glu2540Ter) c.454G>T (p.Glu152Ter) c.7995G>T (n.7995G>T) c.552G>T c.7891G>T (p.Glu2631Ter) | ClinVar dbSNP |
13 | g.32363189_32363190delinsGA | CA2082834126 | BRCA2 | c.7987_7988delinsGA (p.Glu2663=) c.7618_7619delinsGA (p.Glu2540=) c.454_455delinsGA (p.Glu152=) c.7995_7996delinsGA (n.7995_7996delinsGA) c.552_553delinsGA c.7891_7892delinsGA (p.Glu2631=) | |
13 | g.32363190A= | CA2082834147 | BRCA2 | c.7988A= (p.Glu2663=) c.7619A= (p.Glu2540=) c.455A= (p.Glu152=) c.7996A= (n.7996A=) c.553A= c.7892A= (p.Glu2631=) | |
13 | g.32363190A>C | CA387748554 | BRCA2 | c.7988A>C (p.Glu2663Ala) c.7619A>C (p.Glu2540Ala) c.455A>C (p.Glu152Ala) c.7996A>C (n.7996A>C) c.553A>C c.7892A>C (p.Glu2631Ala) | |
13 | g.32363190A>G | CA387748557 | BRCA2 | c.7988A>G (p.Glu2663Gly) c.7619A>G (p.Glu2540Gly) c.455A>G (p.Glu152Gly) c.7996A>G (n.7996A>G) c.553A>G c.7892A>G (p.Glu2631Gly) | ClinVar dbSNP |
13 | g.32363190A>T | CA025385 | BRCA2 | c.7988A>T (p.Glu2663Val) c.7619A>T (p.Glu2540Val) c.455A>T (p.Glu152Val) c.7996A>T (n.7996A>T) c.553A>T c.7892A>T (p.Glu2631Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363192del | CA10586585 | BRCA2 | c.7990del (p.Ile2664LeufsTer9) c.7621del (p.Ile2541LeufsTer9) c.457del (p.Ile153LeufsTer9) c.7998del (n.7998del) c.555del c.7894del (p.Ile2632LeufsTer9) | ClinVar dbSNP |
13 | g.32363191A= | CA2082834152 | BRCA2 | c.7989A= (p.Glu2663=) c.7620A= (p.Glu2540=) c.456A= (p.Glu152=) c.7997A= (n.7997A=) c.554A= c.7893A= (p.Glu2631=) | |
13 | g.32363191A>C | CA387748567 | BRCA2 | c.7989A>C (p.Glu2663Asp) c.7620A>C (p.Glu2540Asp) c.456A>C (p.Glu152Asp) c.7997A>C (n.7997A>C) c.554A>C c.7893A>C (p.Glu2631Asp) | |
13 | g.32363191A>G | CA025386 | BRCA2 | c.7989A>G (p.Glu2663=) c.7620A>G (p.Glu2540=) c.456A>G (p.Glu152=) c.7997A>G (n.7997A>G) c.554A>G c.7893A>G (p.Glu2631=) | ClinVar dbSNP |
13 | g.32363191A>T | CA387748572 | BRCA2 | c.7989A>T (p.Glu2663Asp) c.7620A>T (p.Glu2540Asp) c.456A>T (p.Glu152Asp) c.7997A>T (n.7997A>T) c.554A>T c.7893A>T (p.Glu2631Asp) | dbSNP |
13 | g.32363192A= | CA2082834156 | BRCA2 | c.7990A= (p.Ile2664=) c.7621A= (p.Ile2541=) c.457A= (p.Ile153=) c.7998A= (n.7998A=) c.555A= c.7894A= (p.Ile2632=) | |
13 | g.32363192A>C | CA387748582 | BRCA2 | c.7990A>C (p.Ile2664Leu) c.7621A>C (p.Ile2541Leu) c.457A>C (p.Ile153Leu) c.7998A>C (n.7998A>C) c.555A>C c.7894A>C (p.Ile2632Leu) | |
13 | g.32363192A>G | CA387748578 | BRCA2 | c.7990A>G (p.Ile2664Val) c.7621A>G (p.Ile2541Val) c.457A>G (p.Ile153Val) c.7998A>G (n.7998A>G) c.555A>G c.7894A>G (p.Ile2632Val) | ClinVar dbSNP |
13 | g.32363192A>T | CA387748579 | BRCA2 | c.7990A>T (p.Ile2664Phe) c.7621A>T (p.Ile2541Phe) c.457A>T (p.Ile153Phe) c.7998A>T (n.7998A>T) c.555A>T c.7894A>T (p.Ile2632Phe) | dbSNP |
13 | g.32363193T>A | CA387748586 | BRCA2 | c.7991T>A (p.Ile2664Asn) c.7622T>A (p.Ile2541Asn) c.458T>A (p.Ile153Asn) c.7999T>A (n.7999T>A) c.556T>A c.7895T>A (p.Ile2632Asn) | dbSNP |
13 | g.32363193T>C | CA387748588 | BRCA2 | c.7991T>C (p.Ile2664Thr) c.7622T>C (p.Ile2541Thr) c.458T>C (p.Ile153Thr) c.7999T>C (n.7999T>C) c.556T>C c.7895T>C (p.Ile2632Thr) | ClinVar dbSNP |
13 | g.32363193T>G | CA387748591 | BRCA2 | c.7991T>G (p.Ile2664Ser) c.7622T>G (p.Ile2541Ser) c.458T>G (p.Ile153Ser) c.7999T>G (n.7999T>G) c.556T>G c.7895T>G (p.Ile2632Ser) | |
13 | g.32363194dup | CA2695217952 | BRCA2 | c.7992dup (p.Asp2665Ter) c.7623dup (p.Asp2542Ter) c.459dup (p.Asp154Ter) c.8000dup (n.8000dup) c.557dup c.7896dup (p.Asp2633Ter) | |
13 | g.32363194T>A | CA025387 | BRCA2 | c.7992T>A (p.Ile2664=) c.7623T>A (p.Ile2541=) c.459T>A (p.Ile153=) c.8000T>A (n.8000T>A) c.557T>A c.7896T>A (p.Ile2632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363194T>C | CA025388 | BRCA2 | c.7992T>C (p.Ile2664=) c.7623T>C (p.Ile2541=) c.459T>C (p.Ile153=) c.8000T>C (n.8000T>C) c.557T>C c.7896T>C (p.Ile2632=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363194T>G | CA025389 | BRCA2 | c.7992T>G (p.Ile2664Met) c.7623T>G (p.Ile2541Met) c.459T>G (p.Ile153Met) c.8000T>G (n.8000T>G) c.557T>G c.7896T>G (p.Ile2632Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363194T= | CA2082834168 | BRCA2 | c.7992T= (p.Ile2664=) c.7623T= (p.Ile2541=) c.459T= (p.Ile153=) c.8000T= (n.8000T=) c.557T= c.7896T= (p.Ile2632=) | |
13 | g.32363195G>A | CA247477329 | BRCA2 | c.7993G>A (p.Asp2665Asn) c.7624G>A (p.Asp2542Asn) c.460G>A (p.Asp154Asn) c.8001G>A (n.8001G>A) c.558G>A c.7897G>A (p.Asp2633Asn) | dbSNP |
13 | g.32363195G>C | CA387748599 | BRCA2 | c.7993G>C (p.Asp2665His) c.7624G>C (p.Asp2542His) c.460G>C (p.Asp154His) c.8001G>C (n.8001G>C) c.558G>C c.7897G>C (p.Asp2633His) | dbSNP |
13 | g.32363195G= | CA2082834179 | BRCA2 | c.7993G= (p.Asp2665=) c.7624G= (p.Asp2542=) c.460G= (p.Asp154=) c.8001G= (n.8001G=) c.558G= c.7897G= (p.Asp2633=) | |
13 | g.32363195G>T | CA16614221 | BRCA2 | c.7993G>T (p.Asp2665Tyr) c.7624G>T (p.Asp2542Tyr) c.460G>T (p.Asp154Tyr) c.8001G>T (n.8001G>T) c.558G>T c.7897G>T (p.Asp2633Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32363196A= | CA2082834207 | BRCA2 | c.7994A= (p.Asp2665=) c.7625A= (p.Asp2542=) c.461A= (p.Asp154=) c.8002A= (n.8002A=) c.559A= c.7898A= (p.Asp2633=) | |
13 | g.32363196A>C | CA387748607 | BRCA2 | c.7994A>C (p.Asp2665Ala) c.7625A>C (p.Asp2542Ala) c.461A>C (p.Asp154Ala) c.8002A>C (n.8002A>C) c.559A>C c.7898A>C (p.Asp2633Ala) | |
13 | g.32363196A>G | CA025390 | BRCA2 | c.7994A>G (p.Asp2665Gly) c.7625A>G (p.Asp2542Gly) c.461A>G (p.Asp154Gly) c.8002A>G (n.8002A>G) c.559A>G c.7898A>G (p.Asp2633Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363196A>T | CA387748612 | BRCA2 | c.7994A>T (p.Asp2665Val) c.7625A>T (p.Asp2542Val) c.461A>T (p.Asp154Val) c.8002A>T (n.8002A>T) c.559A>T c.7898A>T (p.Asp2633Val) | ClinVar dbSNP |
13 | g.32363197T>A | CA387748616 | BRCA2 | c.7995T>A (p.Asp2665Glu) c.7626T>A (p.Asp2542Glu) c.462T>A (p.Asp154Glu) c.8003T>A (n.8003T>A) c.560T>A c.7899T>A (p.Asp2633Glu) | |
13 | g.32363197T>C | CA335823 | BRCA2 | c.7995T>C (p.Asp2665=) c.7626T>C (p.Asp2542=) c.462T>C (p.Asp154=) c.8003T>C (n.8003T>C) c.560T>C c.7899T>C (p.Asp2633=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363197T>G | CA387748614 | BRCA2 | c.7995T>G (p.Asp2665Glu) c.7626T>G (p.Asp2542Glu) c.462T>G (p.Asp154Glu) c.8003T>G (n.8003T>G) c.560T>G c.7899T>G (p.Asp2633Glu) | |
13 | g.32363197T= | CA2082834245 | BRCA2 | c.7995T= (p.Asp2665=) c.7626T= (p.Asp2542=) c.462T= (p.Asp154=) c.8003T= (n.8003T=) c.560T= c.7899T= (p.Asp2633=) | |
13 | g.32363198A= | CA2082834253 | BRCA2 | c.7996A= (p.Arg2666=) c.7627A= (p.Arg2543=) c.463A= (p.Arg155=) c.8004A= (n.8004A=) c.561A= c.7900A= (p.Arg2634=) | |
13 | g.32363198A>C | CA483439437 | BRCA2 | c.7996A>C (p.Arg2666=) c.7627A>C (p.Arg2543=) c.463A>C (p.Arg155=) c.8004A>C (n.8004A>C) c.561A>C c.7900A>C (p.Arg2634=) | |
13 | g.32363198A>G | CA387748619 | BRCA2 | c.7996A>G (p.Arg2666Gly) c.7627A>G (p.Arg2543Gly) c.463A>G (p.Arg155Gly) c.8004A>G (n.8004A>G) c.561A>G c.7900A>G (p.Arg2634Gly) | dbSNP |
13 | g.32363198A>T | CA025391 | BRCA2 | c.7996A>T (p.Arg2666Ter) c.7627A>T (p.Arg2543Ter) c.463A>T (p.Arg155Ter) c.8004A>T (n.8004A>T) c.561A>T c.7900A>T (p.Arg2634Ter) | ClinVar dbSNP |
13 | g.32363199G>A | CA387748625 | BRCA2 | c.7997G>A (p.Arg2666Lys) c.7628G>A (p.Arg2543Lys) c.464G>A (p.Arg155Lys) c.8005G>A (n.8005G>A) c.562G>A c.7901G>A (p.Arg2634Lys) | dbSNP |
13 | g.32363199G>C | CA025392 | BRCA2 | c.7997G>C (p.Arg2666Thr) c.7628G>C (p.Arg2543Thr) c.464G>C (p.Arg155Thr) c.8005G>C (n.8005G>C) c.562G>C c.7901G>C (p.Arg2634Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32363199G= | CA2082834275 | BRCA2 | c.7997G= (p.Arg2666=) c.7628G= (p.Arg2543=) c.464G= (p.Arg155=) c.8005G= (n.8005G=) c.562G= c.7901G= (p.Arg2634=) | |
13 | g.32363199G>T | CA387748635 | BRCA2 | c.7997G>T (p.Arg2666Ile) c.7628G>T (p.Arg2543Ile) c.464G>T (p.Arg155Ile) c.8005G>T (n.8005G>T) c.562G>T c.7901G>T (p.Arg2634Ile) | |
13 | g.32363199_32363200delinsGA | CA2082834272 | BRCA2 | c.7997_7998delinsGA (p.Arg2666=) c.7628_7629delinsGA (p.Arg2543=) c.464_465delinsGA (p.Arg155=) c.8005_8006delinsGA (n.8005_8006delinsGA) c.562_563delinsGA c.7901_7902delinsGA (p.Arg2634=) | |
13 | g.32363200A>C | CA387748642 | BRCA2 | c.7998A>C (p.Arg2666Ser) c.7629A>C (p.Arg2543Ser) c.465A>C (p.Arg155Ser) c.8006A>C (n.8006A>C) c.563A>C c.7902A>C (p.Arg2634Ser) | |
13 | g.32363200A>G | CA483439441 | BRCA2 | c.7998A>G (p.Arg2666=) c.7629A>G (p.Arg2543=) c.465A>G (p.Arg155=) c.8006A>G (n.8006A>G) c.563A>G c.7902A>G (p.Arg2634=) | |
13 | g.32363200A>T | CA387748641 | BRCA2 | c.7998A>T (p.Arg2666Ser) c.7629A>T (p.Arg2543Ser) c.465A>T (p.Arg155Ser) c.8006A>T (n.8006A>T) c.563A>T c.7902A>T (p.Arg2634Ser) | dbSNP |
13 | g.32363201del | CA16619775 | BRCA2 | c.7999del (p.Ser2667AlafsTer6) c.7630del (p.Ser2544AlafsTer6) c.466del (p.Ser156AlafsTer6) c.8007del (n.8007del) c.564del c.7903del (p.Ser2635AlafsTer6) | ClinVar dbSNP |
13 | g.32363201A>C | CA387748643 | BRCA2 | c.7999A>C (p.Ser2667Arg) c.7630A>C (p.Ser2544Arg) c.466A>C (p.Ser156Arg) c.8007A>C (n.8007A>C) c.564A>C c.7903A>C (p.Ser2635Arg) | |
13 | g.32363201A>G | CA387748644 | BRCA2 | c.7999A>G (p.Ser2667Gly) c.7630A>G (p.Ser2544Gly) c.466A>G (p.Ser156Gly) c.8007A>G (n.8007A>G) c.564A>G c.7903A>G (p.Ser2635Gly) | |
13 | g.32363201A>T | CA387748645 | BRCA2 | c.7999A>T (p.Ser2667Cys) c.7630A>T (p.Ser2544Cys) c.466A>T (p.Ser156Cys) c.8007A>T (n.8007A>T) c.564A>T c.7903A>T (p.Ser2635Cys) | dbSNP |
13 | g.32363202G>A | CA387748646 | BRCA2 | c.8000G>A (p.Ser2667Asn) c.7631G>A (p.Ser2544Asn) c.467G>A (p.Ser156Asn) c.8008G>A (n.8008G>A) c.565G>A c.7904G>A (p.Ser2635Asn) | ClinVar dbSNP |
13 | g.32363202G>C | CA387748647 | BRCA2 | c.8000G>C (p.Ser2667Thr) c.7631G>C (p.Ser2544Thr) c.467G>C (p.Ser156Thr) c.8008G>C (n.8008G>C) c.565G>C c.7904G>C (p.Ser2635Thr) | dbSNP |
13 | g.32363202G>T | CA387748648 | BRCA2 | c.8000G>T (p.Ser2667Ile) c.7631G>T (p.Ser2544Ile) c.467G>T (p.Ser156Ile) c.8008G>T (n.8008G>T) c.565G>T c.7904G>T (p.Ser2635Ile) | |
13 | g.32363203C>A | CA387748653 | BRCA2 | c.8001C>A (p.Ser2667Arg) c.7632C>A (p.Ser2544Arg) c.468C>A (p.Ser156Arg) c.8009C>A (n.8009C>A) c.566C>A c.7905C>A (p.Ser2635Arg) | dbSNP |
13 | g.32363203C= | CA2082834295 | BRCA2 | c.8001C= (p.Ser2667=) c.7632C= (p.Ser2544=) c.468C= (p.Ser156=) c.8009C= (n.8009C=) c.566C= c.7905C= (p.Ser2635=) | |
13 | g.32363203C>G | CA387748649 | BRCA2 | c.8001C>G (p.Ser2667Arg) c.7632C>G (p.Ser2544Arg) c.468C>G (p.Ser156Arg) c.8009C>G (n.8009C>G) c.566C>G c.7905C>G (p.Ser2635Arg) | dbSNP |
13 | g.32363203C>T | CA025395 | BRCA2 | c.8001C>T (p.Ser2667=) c.7632C>T (p.Ser2544=) c.468C>T (p.Ser156=) c.8009C>T (n.8009C>T) c.566C>T c.7905C>T (p.Ser2635=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363203_32363206delinsCAGA | CA2082834298 | BRCA2 | c.8001_8004delinsCAGA (p.Ser2667=) c.7632_7635delinsCAGA (p.Ser2544=) c.468_471delinsCAGA (p.Ser156=) c.8009_8012delinsCAGA (n.8009_8012delinsCAGA) c.566_569delinsCAGA c.7905_7908delinsCAGA (p.Ser2635=) | |
13 | g.32363204A= | CA2082834322 | BRCA2 | c.8002A= (p.Arg2668=) c.7633A= (p.Arg2545=) c.469A= (p.Arg157=) c.8010A= (n.8010A=) c.567A= c.7906A= (p.Arg2636=) | |
13 | g.32363204A>C | CA483439450 | BRCA2 | c.8002A>C (p.Arg2668=) c.7633A>C (p.Arg2545=) c.469A>C (p.Arg157=) c.8010A>C (n.8010A>C) c.567A>C c.7906A>C (p.Arg2636=) | |
13 | g.32363204A>G | CA6941178 | BRCA2 | c.8002A>G (p.Arg2668Gly) c.7633A>G (p.Arg2545Gly) c.469A>G (p.Arg157Gly) c.8010A>G (n.8010A>G) c.567A>G c.7906A>G (p.Arg2636Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363204A>T | CA025396 | BRCA2 | c.8002A>T (p.Arg2668Ter) c.7633A>T (p.Arg2545Ter) c.469A>T (p.Arg157Ter) c.8010A>T (n.8010A>T) c.567A>T c.7906A>T (p.Arg2636Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32363204_32363205delinsAG | CA2082834325 | BRCA2 | c.8002_8003delinsAG (p.Arg2668=) c.7633_7634delinsAG (p.Arg2545=) c.469_470delinsAG (p.Arg157=) c.8010_8011delinsAG (n.8010_8011delinsAG) c.567_568delinsAG c.7906_7907delinsAG (p.Arg2636=) | |
13 | g.32363204_32363205delinsTA | CA645372929 | BRCA2 | c.8002_8003delinsTA (p.Arg2668Ter) c.7633_7634delinsTA (p.Arg2545Ter) c.469_470delinsTA (p.Arg157Ter) c.8010_8011delinsTA (n.8010_8011delinsTA) c.567_568delinsTA c.7906_7907delinsTA (p.Arg2636Ter) | ClinVar dbSNP |
13 | g.32363207_32363209del | CA609453898 | BRCA2 | c.8005_8007del (p.Arg2669del) c.7636_7638del (p.Arg2546del) c.472_474del (p.Arg158del) c.8013_8015del (n.8013_8015del) c.570_572del c.7909_7911del (p.Arg2637del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363204_32363210dup | CA025399 | BRCA2 | c.8002_8008dup (p.Ser2670Ter) c.7633_7639dup (p.Ser2547Ter) c.469_475dup (p.Ser159Ter) c.8010_8016dup (n.8010_8016dup) c.567_573dup c.7906_7912dup (p.Ser2638Ter) | ClinVar dbSNP |
13 | g.32363205G>A | CA387748664 | BRCA2 | c.8003G>A (p.Arg2668Lys) c.7634G>A (p.Arg2545Lys) c.470G>A (p.Arg157Lys) c.8011G>A (n.8011G>A) c.568G>A c.7907G>A (p.Arg2636Lys) | dbSNP |
13 | g.32363205G>C | CA387748670 | BRCA2 | c.8003G>C (p.Arg2668Thr) c.7634G>C (p.Arg2545Thr) c.470G>C (p.Arg157Thr) c.8011G>C (n.8011G>C) c.568G>C c.7907G>C (p.Arg2636Thr) | dbSNP |
13 | g.32363205G>T | CA387748672 | BRCA2 | c.8003G>T (p.Arg2668Ile) c.7634G>T (p.Arg2545Ile) c.470G>T (p.Arg157Ile) c.8011G>T (n.8011G>T) c.568G>T c.7907G>T (p.Arg2636Ile) | |
13 | g.32363206A= | CA2082834334 | BRCA2 | c.8004A= (p.Arg2668=) c.7635A= (p.Arg2545=) c.471A= (p.Arg157=) c.8012A= (n.8012A=) c.569A= c.7908A= (p.Arg2636=) | |
13 | g.32363206A>C | CA6941179 | BRCA2 | c.8004A>C (p.Arg2668Ser) c.7635A>C (p.Arg2545Ser) c.471A>C (p.Arg157Ser) c.8012A>C (n.8012A>C) c.569A>C c.7908A>C (p.Arg2636Ser) | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32363206A>G | CA16614225 | BRCA2 | c.8004A>G (p.Arg2668=) c.7635A>G (p.Arg2545=) c.471A>G (p.Arg157=) c.8012A>G (n.8012A>G) c.569A>G c.7908A>G (p.Arg2636=) | ClinVar dbSNP |
13 | g.32363206A>T | CA387748686 | BRCA2 | c.8004A>T (p.Arg2668Ser) c.7635A>T (p.Arg2545Ser) c.471A>T (p.Arg157Ser) c.8012A>T (n.8012A>T) c.569A>T c.7908A>T (p.Arg2636Ser) | |
13 | g.32363207A>C | CA483439457 | BRCA2 | c.8005A>C (p.Arg2669=) c.7636A>C (p.Arg2546=) c.472A>C (p.Arg158=) c.8013A>C (n.8013A>C) c.570A>C c.7909A>C (p.Arg2637=) | ClinVar |
13 | g.32363207A>G | CA387748690 | BRCA2 | c.8005A>G (p.Arg2669Gly) c.7636A>G (p.Arg2546Gly) c.472A>G (p.Arg158Gly) c.8013A>G (n.8013A>G) c.570A>G c.7909A>G (p.Arg2637Gly) | ClinVar dbSNP |
13 | g.32363207A>T | CA387748693 | BRCA2 | c.8005A>T (p.Arg2669Ter) c.7636A>T (p.Arg2546Ter) c.472A>T (p.Arg158Ter) c.8013A>T (n.8013A>T) c.570A>T c.7909A>T (p.Arg2637Ter) | ClinVar dbSNP |
13 | g.32363207_32363230delinsAGATCGGCTATAAAAAAGATAATG | CA2082834342 | BRCA2 | c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG (p.Arg2669=) c.7636_7659delinsAGATCGGCTATAAAAAAGATAATG (p.Arg2546=) c.472_495delinsAGATCGGCTATAAAAAAGATAATG (p.Arg158=) c.8013_8036delinsAGATCGGCTATAAAAAAGATAATG (n.8013_8036delinsAGATCGGCTATAAAAAAGATAATG) c.570_593delinsAGATCGGCTATAAAAAAGATAATG c.7909_7932delinsAGATCGGCTATAAAAAAGATAATG (p.Arg2637=) | |
13 | g.32363208G>A | CA387748698 | BRCA2 | c.8006G>A (p.Arg2669Lys) c.7637G>A (p.Arg2546Lys) c.473G>A (p.Arg158Lys) c.8014G>A (n.8014G>A) c.571G>A c.7910G>A (p.Arg2637Lys) | dbSNP |
13 | g.32363208G>C | CA387748702 | BRCA2 | c.8006G>C (p.Arg2669Thr) c.7637G>C (p.Arg2546Thr) c.473G>C (p.Arg158Thr) c.8014G>C (n.8014G>C) c.571G>C c.7910G>C (p.Arg2637Thr) | dbSNP |
13 | g.32363208G>T | CA387748708 | BRCA2 | c.8006G>T (p.Arg2669Ile) c.7637G>T (p.Arg2546Ile) c.473G>T (p.Arg158Ile) c.8014G>T (n.8014G>T) c.571G>T c.7910G>T (p.Arg2637Ile) | ClinVar dbSNP |
13 | g.32363210_32363232del | CA10589463 | BRCA2 | c.8008_8030del (p.Ser2670LysfsTer3) c.7639_7661del (p.Ser2547LysfsTer3) c.475_497del (p.Ser159LysfsTer3) c.8016_8038del (n.8016_8038del) c.573_595del c.7912_7934del (p.Ser2638LysfsTer3) | ClinVar dbSNP |
13 | g.32363209A= | CA2082834350 | BRCA2 | c.8007A= (p.Arg2669=) c.7638A= (p.Arg2546=) c.474A= (p.Arg158=) c.8015A= (n.8015A=) c.572A= c.7911A= (p.Arg2637=) | |
13 | g.32363209A>C | CA387748716 | BRCA2 | c.8007A>C (p.Arg2669Ser) c.7638A>C (p.Arg2546Ser) c.474A>C (p.Arg158Ser) c.8015A>C (n.8015A>C) c.572A>C c.7911A>C (p.Arg2637Ser) | |
13 | g.32363209A>G | CA025397 | BRCA2 | c.8007A>G (p.Arg2669=) c.7638A>G (p.Arg2546=) c.474A>G (p.Arg158=) c.8015A>G (n.8015A>G) c.572A>G c.7911A>G (p.Arg2637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363209A>T | CA025398 | BRCA2 | c.8007A>T (p.Arg2669Ser) c.7638A>T (p.Arg2546Ser) c.474A>T (p.Arg158Ser) c.8015A>T (n.8015A>T) c.572A>T c.7911A>T (p.Arg2637Ser) | ClinVar dbSNP |
13 | g.32363210T>A | CA387748730 | BRCA2 | c.8008T>A (p.Ser2670Thr) c.7639T>A (p.Ser2547Thr) c.475T>A (p.Ser159Thr) c.8016T>A (n.8016T>A) c.573T>A c.7912T>A (p.Ser2638Thr) | dbSNP |
13 | g.32363210T>C | CA6941180 | BRCA2 | c.8008T>C (p.Ser2670Pro) c.7639T>C (p.Ser2547Pro) c.475T>C (p.Ser159Pro) c.8016T>C (n.8016T>C) c.573T>C c.7912T>C (p.Ser2638Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363210T>G | CA387748735 | BRCA2 | c.8008T>G (p.Ser2670Ala) c.7639T>G (p.Ser2547Ala) c.475T>G (p.Ser159Ala) c.8016T>G (n.8016T>G) c.573T>G c.7912T>G (p.Ser2638Ala) | dbSNP |
13 | g.32363210T= | CA2082834355 | BRCA2 | c.8008T= (p.Ser2670=) c.7639T= (p.Ser2547=) c.475T= (p.Ser159=) c.8016T= (n.8016T=) c.573T= c.7912T= (p.Ser2638=) | |
13 | g.32363210_32363211delinsTC | CA2082834358 | BRCA2 | c.8008_8009delinsTC (p.Ser2670=) c.7639_7640delinsTC (p.Ser2547=) c.475_476delinsTC (p.Ser159=) c.8016_8017delinsTC (n.8016_8017delinsTC) c.573_574delinsTC c.7912_7913delinsTC (p.Ser2638=) | |
13 | g.32363211del | CA10579764 | BRCA2 | c.8009del (p.Ser2670TrpfsTer3) c.7640del (p.Ser2547TrpfsTer3) c.476del (p.Ser159TrpfsTer3) c.8017del (n.8017del) c.574del c.7913del (p.Ser2638TrpfsTer3) | ClinVar dbSNP |
13 | g.32363211C>A | CA025400 | BRCA2 | c.8009C>A (p.Ser2670Ter) c.7640C>A (p.Ser2547Ter) c.476C>A (p.Ser159Ter) c.8017C>A (n.8017C>A) c.574C>A c.7913C>A (p.Ser2638Ter) | ClinVar dbSNP |
13 | g.32363211C= | CA2082834393 | BRCA2 | c.8009C= (p.Ser2670=) c.7640C= (p.Ser2547=) c.476C= (p.Ser159=) c.8017C= (n.8017C=) c.574C= c.7913C= (p.Ser2638=) | |
13 | g.32363211C>G | CA387748738 | BRCA2 | c.8009C>G (p.Ser2670Trp) c.7640C>G (p.Ser2547Trp) c.476C>G (p.Ser159Trp) c.8017C>G (n.8017C>G) c.574C>G c.7913C>G (p.Ser2638Trp) | ClinVar dbSNP |
13 | g.32363211C>T | CA025401 | BRCA2 | c.8009C>T (p.Ser2670Leu) c.7640C>T (p.Ser2547Leu) c.476C>T (p.Ser159Leu) c.8017C>T (n.8017C>T) c.574C>T c.7913C>T (p.Ser2638Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32363211_32363229delinsCGGCTATAAAAAAGATAAT | CA2082834373 | BRCA2 | c.8009_8027delinsCGGCTATAAAAAAGATAAT (p.Ser2670=) c.7640_7658delinsCGGCTATAAAAAAGATAAT (p.Ser2547=) c.476_494delinsCGGCTATAAAAAAGATAAT (p.Ser159=) c.8017_8035delinsCGGCTATAAAAAAGATAAT (n.8017_8035delinsCGGCTATAAAAAAGATAAT) c.574_592delinsCGGCTATAAAAAAGATAAT c.7913_7931delinsCGGCTATAAAAAAGATAAT (p.Ser2638=) | |
13 | g.32363211_32363234delinsCGGCTATAAAAAAGATAATGGAAA | CA2082834386 | BRCA2 | c.8009_8032delinsCGGCTATAAAAAAGATAATGGAAA (p.Ser2670=) c.7640_7663delinsCGGCTATAAAAAAGATAATGGAAA (p.Ser2547=) c.476_499delinsCGGCTATAAAAAAGATAATGGAAA (p.Ser159=) c.8017_8040delinsCGGCTATAAAAAAGATAATGGAAA (n.8017_8040delinsCGGCTATAAAAAAGATAATGGAAA) c.574_597delinsCGGCTATAAAAAAGATAATGGAAA c.7913_7936delinsCGGCTATAAAAAAGATAATGGAAA (p.Ser2638=) | |
13 | g.32363212G>A | CA025404 | BRCA2 | c.8010G>A (p.Ser2670=) c.7641G>A (p.Ser2547=) c.477G>A (p.Ser159=) c.8018G>A (n.8018G>A) c.575G>A c.7914G>A (p.Ser2638=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363212G>C | CA483439467 | BRCA2 | c.8010G>C (p.Ser2670=) c.7641G>C (p.Ser2547=) c.477G>C (p.Ser159=) c.8018G>C (n.8018G>C) c.575G>C c.7914G>C (p.Ser2638=) | dbSNP |
13 | g.32363212G= | CA2082834413 | BRCA2 | c.8010G= (p.Ser2670=) c.7641G= (p.Ser2547=) c.477G= (p.Ser159=) c.8018G= (n.8018G=) c.575G= c.7914G= (p.Ser2638=) | |
13 | g.32363212G>T | CA483439469 | BRCA2 | c.8010G>T (p.Ser2670=) c.7641G>T (p.Ser2547=) c.477G>T (p.Ser159=) c.8018G>T (n.8018G>T) c.575G>T c.7914G>T (p.Ser2638=) | dbSNP |
13 | g.32363214_32363231del | CA915946887 | BRCA2 | c.8012_8029del (p.Ala2671_Met2676del) c.7643_7660del (p.Ala2548_Met2553del) c.479_496del (p.Ala160_Met165del) c.8020_8037del (n.8020_8037del) c.577_594del c.7916_7933del (p.Ala2639_Met2644del) | ClinVar dbSNP |
13 | g.32363214_32363236del | CA025403 | BRCA2 | c.8012_8034del (p.Ala2671GlyfsTer2) c.7643_7665del (p.Ala2548GlyfsTer2) c.479_501del (p.Ala160GlyfsTer2) c.8020_8042del (n.8020_8042del) c.577_599del c.7916_7938del (p.Ala2639GlyfsTer2) | ClinVar dbSNP |
13 | g.32363213G>A | CA387748752 | BRCA2 | c.8011G>A (p.Ala2671Thr) c.7642G>A (p.Ala2548Thr) c.478G>A (p.Ala160Thr) c.8019G>A (n.8019G>A) c.576G>A c.7915G>A (p.Ala2639Thr) | ClinVar dbSNP |
13 | g.32363213G>C | CA387748754 | BRCA2 | c.8011G>C (p.Ala2671Pro) c.7642G>C (p.Ala2548Pro) c.478G>C (p.Ala160Pro) c.8019G>C (n.8019G>C) c.576G>C c.7915G>C (p.Ala2639Pro) | dbSNP |
13 | g.32363213G= | CA2082834440 | BRCA2 | c.8011G= (p.Ala2671=) c.7642G= (p.Ala2548=) c.478G= (p.Ala160=) c.8019G= (n.8019G=) c.576G= c.7915G= (p.Ala2639=) | |
13 | g.32363213G>T | CA025405 | BRCA2 | c.8011G>T (p.Ala2671Ser) c.7642G>T (p.Ala2548Ser) c.478G>T (p.Ala160Ser) c.8019G>T (n.8019G>T) c.576G>T c.7915G>T (p.Ala2639Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32363214C>A | CA387748764 | BRCA2 | c.8012C>A (p.Ala2671Asp) c.7643C>A (p.Ala2548Asp) c.479C>A (p.Ala160Asp) c.8020C>A (n.8020C>A) c.577C>A c.7916C>A (p.Ala2639Asp) | dbSNP |
13 | g.32363214C= | CA2082834453 | BRCA2 | c.8012C= (p.Ala2671=) c.7643C= (p.Ala2548=) c.479C= (p.Ala160=) c.8020C= (n.8020C=) c.577C= c.7916C= (p.Ala2639=) | |
13 | g.32363214C>G | CA387748757 | BRCA2 | c.8012C>G (p.Ala2671Gly) c.7643C>G (p.Ala2548Gly) c.479C>G (p.Ala160Gly) c.8020C>G (n.8020C>G) c.577C>G c.7916C>G (p.Ala2639Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363214C>T | CA387748760 | BRCA2 | c.8012C>T (p.Ala2671Val) c.7643C>T (p.Ala2548Val) c.479C>T (p.Ala160Val) c.8020C>T (n.8020C>T) c.577C>T c.7916C>T (p.Ala2639Val) | dbSNP |
13 | g.32363215T>A | CA483439472 | BRCA2 | c.8013T>A (p.Ala2671=) c.7644T>A (p.Ala2548=) c.480T>A (p.Ala160=) c.8021T>A (n.8021T>A) c.578T>A c.7917T>A (p.Ala2639=) | dbSNP |
13 | g.32363215T>C | CA483439473 | BRCA2 | c.8013T>C (p.Ala2671=) c.7644T>C (p.Ala2548=) c.480T>C (p.Ala160=) c.8021T>C (n.8021T>C) c.578T>C c.7917T>C (p.Ala2639=) | dbSNP |
13 | g.32363215T>G | CA483439475 | BRCA2 | c.8013T>G (p.Ala2671=) c.7644T>G (p.Ala2548=) c.480T>G (p.Ala160=) c.8021T>G (n.8021T>G) c.578T>G c.7917T>G (p.Ala2639=) | |
13 | g.32363216A= | CA2082834457 | BRCA2 | c.8014A= (p.Ile2672=) c.7645A= (p.Ile2549=) c.481A= (p.Ile161=) c.8022A= (n.8022A=) c.579A= c.7918A= (p.Ile2640=) | |
13 | g.32363216A>C | CA387748769 | BRCA2 | c.8014A>C (p.Ile2672Leu) c.7645A>C (p.Ile2549Leu) c.481A>C (p.Ile161Leu) c.8022A>C (n.8022A>C) c.579A>C c.7918A>C (p.Ile2640Leu) | ClinVar dbSNP |
13 | g.32363216A>G | CA025406 | BRCA2 | c.8014A>G (p.Ile2672Val) c.7645A>G (p.Ile2549Val) c.481A>G (p.Ile161Val) c.8022A>G (n.8022A>G) c.579A>G c.7918A>G (p.Ile2640Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363216A>T | CA387748784 | BRCA2 | c.8014A>T (p.Ile2672Leu) c.7645A>T (p.Ile2549Leu) c.481A>T (p.Ile161Leu) c.8022A>T (n.8022A>T) c.579A>T c.7918A>T (p.Ile2640Leu) | dbSNP |
13 | g.32363217del | CA2499222319 | BRCA2 | c.8015del (p.Ile2672LysfsTer4) c.7646del (p.Ile2549LysfsTer4) c.482del (p.Ile161LysfsTer4) c.8023del (n.8023del) c.580del c.7919del (p.Ile2640LysfsTer4) | ClinVar dbSNP |
13 | g.32363217T>A | CA387748787 | BRCA2 | c.8015T>A (p.Ile2672Lys) c.7646T>A (p.Ile2549Lys) c.482T>A (p.Ile161Lys) c.8023T>A (n.8023T>A) c.580T>A c.7919T>A (p.Ile2640Lys) | |
13 | g.32363217T>C | CA6941181 | BRCA2 | c.8015T>C (p.Ile2672Thr) c.7646T>C (p.Ile2549Thr) c.482T>C (p.Ile161Thr) c.8023T>C (n.8023T>C) c.580T>C c.7919T>C (p.Ile2640Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363217T>G | CA387748793 | BRCA2 | c.8015T>G (p.Ile2672Arg) c.7646T>G (p.Ile2549Arg) c.482T>G (p.Ile161Arg) c.8023T>G (n.8023T>G) c.580T>G c.7919T>G (p.Ile2640Arg) | |
13 | g.32363217T= | CA2082834472 | BRCA2 | c.8015T= (p.Ile2672=) c.7646T= (p.Ile2549=) c.482T= (p.Ile161=) c.8023T= (n.8023T=) c.580T= c.7919T= (p.Ile2640=) | |
13 | g.32363217_32363219delinsTAA | CA2082834480 | BRCA2 | c.8015_8017delinsTAA (p.Ile2672=) c.7646_7648delinsTAA (p.Ile2549=) c.482_484delinsTAA (p.Ile161=) c.8023_8025delinsTAA (n.8023_8025delinsTAA) c.580_582delinsTAA c.7919_7921delinsTAA (p.Ile2640=) | |
13 | g.32363218A= | CA2082834498 | BRCA2 | c.8016A= (p.Ile2672=) c.7647A= (p.Ile2549=) c.483A= (p.Ile161=) c.8024A= (n.8024A=) c.581A= c.7920A= (p.Ile2640=) | |
13 | g.32363218A>C | CA483439476 | BRCA2 | c.8016A>C (p.Ile2672=) c.7647A>C (p.Ile2549=) c.483A>C (p.Ile161=) c.8024A>C (n.8024A>C) c.581A>C c.7920A>C (p.Ile2640=) | ClinVar |
13 | g.32363218A>G | CA025407 | BRCA2 | c.8016A>G (p.Ile2672Met) c.7647A>G (p.Ile2549Met) c.483A>G (p.Ile161Met) c.8024A>G (n.8024A>G) c.581A>G c.7920A>G (p.Ile2640Met) | ClinVar dbSNP |
13 | g.32363218A>T | CA483439477 | BRCA2 | c.8016A>T (p.Ile2672=) c.7647A>T (p.Ile2549=) c.483A>T (p.Ile161=) c.8024A>T (n.8024A>T) c.581A>T c.7920A>T (p.Ile2640=) | dbSNP gnomAD v4 |
13 | g.32363223dup | CA10589464 | BRCA2 | c.8021dup (p.Ile2675AspfsTer6) c.7652dup (p.Ile2552AspfsTer6) c.488dup (p.Ile164AspfsTer6) c.8029dup (n.8029dup) c.586dup c.7925dup (p.Ile2643AspfsTer6) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32363223del | CA025409 | BRCA2 | c.8021del (p.Lys2674ArgfsTer2) c.7652del (p.Lys2551ArgfsTer2) c.488del (p.Lys163ArgfsTer2) c.8029del (n.8029del) c.586del c.7925del (p.Lys2642ArgfsTer2) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32363222_32363223del | CA025408 | BRCA2 | c.8020_8021del (p.Lys2674AspfsTer6) c.7651_7652del (p.Lys2551AspfsTer6) c.487_488del (p.Lys163AspfsTer6) c.8028_8029del (n.8028_8029del) c.585_586del c.7924_7925del (p.Lys2642AspfsTer6) | ClinVar dbSNP gnomAD v4 |
13 | g.32363219A>C | CA387748802 | BRCA2 | c.8017A>C (p.Lys2673Gln) c.7648A>C (p.Lys2550Gln) c.484A>C (p.Lys162Gln) c.8025A>C (n.8025A>C) c.582A>C c.7921A>C (p.Lys2641Gln) | |
13 | g.32363219A>G | CA387748813 | BRCA2 | c.8017A>G (p.Lys2673Glu) c.7648A>G (p.Lys2550Glu) c.484A>G (p.Lys162Glu) c.8025A>G (n.8025A>G) c.582A>G c.7921A>G (p.Lys2641Glu) | |
13 | g.32363219A>T | CA387748816 | BRCA2 | c.8017A>T (p.Lys2673Ter) c.7648A>T (p.Lys2550Ter) c.484A>T (p.Lys162Ter) c.8025A>T (n.8025A>T) c.582A>T c.7921A>T (p.Lys2641Ter) | |
13 | g.32363220A= | CA2082834512 | BRCA2 | c.8018A= (p.Lys2673=) c.7649A= (p.Lys2550=) c.485A= (p.Lys162=) c.8026A= (n.8026A=) c.583A= c.7922A= (p.Lys2641=) | |
13 | g.32363220A>C | CA387748822 | BRCA2 | c.8018A>C (p.Lys2673Thr) c.7649A>C (p.Lys2550Thr) c.485A>C (p.Lys162Thr) c.8026A>C (n.8026A>C) c.583A>C c.7922A>C (p.Lys2641Thr) | |
13 | g.32363220A>G | CA16619776 | BRCA2 | c.8018A>G (p.Lys2673Arg) c.7649A>G (p.Lys2550Arg) c.485A>G (p.Lys162Arg) c.8026A>G (n.8026A>G) c.583A>G c.7922A>G (p.Lys2641Arg) | ClinVar dbSNP |
13 | g.32363220A>T | CA387748826 | BRCA2 | c.8018A>T (p.Lys2673Ile) c.7649A>T (p.Lys2550Ile) c.485A>T (p.Lys162Ile) c.8026A>T (n.8026A>T) c.583A>T c.7922A>T (p.Lys2641Ile) | dbSNP |
13 | g.32363221A= | CA2082834519 | BRCA2 | c.8019A= (p.Lys2673=) c.7650A= (p.Lys2550=) c.486A= (p.Lys162=) c.8027A= (n.8027A=) c.584A= c.7923A= (p.Lys2641=) | |
13 | g.32363221A>C | CA387748833 | BRCA2 | c.8019A>C (p.Lys2673Asn) c.7650A>C (p.Lys2550Asn) c.486A>C (p.Lys162Asn) c.8027A>C (n.8027A>C) c.584A>C c.7923A>C (p.Lys2641Asn) | |
13 | g.32363221A>G | CA483439482 | BRCA2 | c.8019A>G (p.Lys2673=) c.7650A>G (p.Lys2550=) c.486A>G (p.Lys162=) c.8027A>G (n.8027A>G) c.584A>G c.7923A>G (p.Lys2641=) | |
13 | g.32363221A>T | CA387748829 | BRCA2 | c.8019A>T (p.Lys2673Asn) c.7650A>T (p.Lys2550Asn) c.486A>T (p.Lys162Asn) c.8027A>T (n.8027A>T) c.584A>T c.7923A>T (p.Lys2641Asn) | ClinVar dbSNP |
13 | g.32363221_32363222insTA | CA919242785 | BRCA2 | c.8019_8020insTA (p.Lys2674Ter) c.7650_7651insTA (p.Lys2551Ter) c.486_487insTA (p.Lys163Ter) c.8027_8028insTA (n.8027_8028insTA) c.584_585insTA c.7923_7924insTA (p.Lys2642Ter) | dbSNP |
13 | g.32363222A>C | CA387748840 | BRCA2 | c.8020A>C (p.Lys2674Gln) c.7651A>C (p.Lys2551Gln) c.487A>C (p.Lys163Gln) c.8028A>C (n.8028A>C) c.585A>C c.7924A>C (p.Lys2642Gln) | |
13 | g.32363222A>G | CA387748837 | BRCA2 | c.8020A>G (p.Lys2674Glu) c.7651A>G (p.Lys2551Glu) c.487A>G (p.Lys163Glu) c.8028A>G (n.8028A>G) c.585A>G c.7924A>G (p.Lys2642Glu) | |
13 | g.32363222A>T | CA387748835 | BRCA2 | c.8020A>T (p.Lys2674Ter) c.7651A>T (p.Lys2551Ter) c.487A>T (p.Lys163Ter) c.8028A>T (n.8028A>T) c.585A>T c.7924A>T (p.Lys2642Ter) | |
13 | g.32363222_32363223insTA | CA2499222320 | BRCA2 | c.8020_8021insTA (p.Lys2674IlefsTer3) c.7651_7652insTA (p.Lys2551IlefsTer3) c.487_488insTA (p.Lys163IlefsTer3) c.8028_8029insTA (n.8028_8029insTA) c.585_586insTA c.7924_7925insTA (p.Lys2642IlefsTer3) | |
13 | g.32363222_32363224delinsAAG | CA2082834531 | BRCA2 | c.8020_8022delinsAAG (p.Lys2674=) c.7651_7653delinsAAG (p.Lys2551=) c.487_489delinsAAG (p.Lys163=) c.8028_8030delinsAAG (n.8028_8030delinsAAG) c.585_587delinsAAG c.7924_7926delinsAAG (p.Lys2642=) | |
13 | g.32363223A>C | CA387748843 | BRCA2 | c.8021A>C (p.Lys2674Thr) c.7652A>C (p.Lys2551Thr) c.488A>C (p.Lys163Thr) c.8029A>C (n.8029A>C) c.586A>C c.7925A>C (p.Lys2642Thr) | |
13 | g.32363223A>G | CA387748855 | BRCA2 | c.8021A>G (p.Lys2674Arg) c.7652A>G (p.Lys2551Arg) c.488A>G (p.Lys163Arg) c.8029A>G (n.8029A>G) c.586A>G c.7925A>G (p.Lys2642Arg) | dbSNP |
13 | g.32363223A>T | CA387748859 | BRCA2 | c.8021A>T (p.Lys2674Met) c.7652A>T (p.Lys2551Met) c.488A>T (p.Lys163Met) c.8029A>T (n.8029A>T) c.586A>T c.7925A>T (p.Lys2642Met) | |
13 | g.32363224_32363225del | CA10586586 | BRCA2 | c.8022_8023del (p.Lys2674AsnfsTer6) c.7653_7654del (p.Lys2551AsnfsTer6) c.489_490del (p.Lys163AsnfsTer6) c.8030_8031del (n.8030_8031del) c.587_588del c.7926_7927del (p.Lys2642AsnfsTer6) | ClinVar dbSNP |
13 | g.32363224G>A | CA483439484 | BRCA2 | c.8022G>A (p.Lys2674=) c.7653G>A (p.Lys2551=) c.489G>A (p.Lys163=) c.8030G>A (n.8030G>A) c.587G>A c.7926G>A (p.Lys2642=) | dbSNP |
13 | g.32363224G>C | CA387748862 | BRCA2 | c.8022G>C (p.Lys2674Asn) c.7653G>C (p.Lys2551Asn) c.489G>C (p.Lys163Asn) c.8030G>C (n.8030G>C) c.587G>C c.7926G>C (p.Lys2642Asn) | dbSNP |
13 | g.32363224G= | CA2082834550 | BRCA2 | c.8022G= (p.Lys2674=) c.7653G= (p.Lys2551=) c.489G= (p.Lys163=) c.8030G= (n.8030G=) c.587G= c.7926G= (p.Lys2642=) | |
13 | g.32363224G>T | CA6941182 | BRCA2 | c.8022G>T (p.Lys2674Asn) c.7653G>T (p.Lys2551Asn) c.489G>T (p.Lys163Asn) c.8030G>T (n.8030G>T) c.587G>T c.7926G>T (p.Lys2642Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363225A= | CA2082834559 | BRCA2 | c.8023A= (p.Ile2675=) c.7654A= (p.Ile2552=) c.490A= (p.Ile164=) c.8031A= (n.8031A=) c.588A= c.7927A= (p.Ile2643=) | |
13 | g.32363225A>C | CA387748866 | BRCA2 | c.8023A>C (p.Ile2675Leu) c.7654A>C (p.Ile2552Leu) c.490A>C (p.Ile164Leu) c.8031A>C (n.8031A>C) c.588A>C c.7927A>C (p.Ile2643Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32363225A>G | CA025410 | BRCA2 | c.8023A>G (p.Ile2675Val) c.7654A>G (p.Ile2552Val) c.490A>G (p.Ile164Val) c.8031A>G (n.8031A>G) c.588A>G c.7927A>G (p.Ile2643Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363225A>T | CA387748870 | BRCA2 | c.8023A>T (p.Ile2675Leu) c.7654A>T (p.Ile2552Leu) c.490A>T (p.Ile164Leu) c.8031A>T (n.8031A>T) c.588A>T c.7927A>T (p.Ile2643Leu) | |
13 | g.32363226T>A | CA387748879 | BRCA2 | c.8024T>A (p.Ile2675Lys) c.7655T>A (p.Ile2552Lys) c.491T>A (p.Ile164Lys) c.8032T>A (n.8032T>A) c.589T>A c.7928T>A (p.Ile2643Lys) | |
13 | g.32363226T>C | CA387748893 | BRCA2 | c.8024T>C (p.Ile2675Thr) c.7655T>C (p.Ile2552Thr) c.491T>C (p.Ile164Thr) c.8032T>C (n.8032T>C) c.589T>C c.7928T>C (p.Ile2643Thr) | |
13 | g.32363226T>G | CA387748890 | BRCA2 | c.8024T>G (p.Ile2675Arg) c.7655T>G (p.Ile2552Arg) c.491T>G (p.Ile164Arg) c.8032T>G (n.8032T>G) c.589T>G c.7928T>G (p.Ile2643Arg) | ClinVar |
13 | g.32363227A= | CA2082834568 | BRCA2 | c.8025A= (p.Ile2675=) c.7656A= (p.Ile2552=) c.492A= (p.Ile164=) c.8033A= (n.8033A=) c.590A= c.7929A= (p.Ile2643=) | |
13 | g.32363227A>C | CA483439487 | BRCA2 | c.8025A>C (p.Ile2675=) c.7656A>C (p.Ile2552=) c.492A>C (p.Ile164=) c.8033A>C (n.8033A>C) c.590A>C c.7929A>C (p.Ile2643=) | |
13 | g.32363227A>G | CA387748902 | BRCA2 | c.8025A>G (p.Ile2675Met) c.7656A>G (p.Ile2552Met) c.492A>G (p.Ile164Met) c.8033A>G (n.8033A>G) c.590A>G c.7929A>G (p.Ile2643Met) | ClinVar dbSNP |
13 | g.32363227A>T | CA483439488 | BRCA2 | c.8025A>T (p.Ile2675=) c.7656A>T (p.Ile2552=) c.492A>T (p.Ile164=) c.8033A>T (n.8033A>T) c.590A>T c.7929A>T (p.Ile2643=) | dbSNP |
13 | g.32363227_32363230del | CA891842184 | BRCA2 | c.8025_8028del (p.Ile2675MetfsTer18) c.7656_7659del (p.Ile2552MetfsTer18) c.492_495del (p.Ile164MetfsTer18) c.8033_8036del (n.8033_8036del) c.590_593del c.7929_7932del (p.Ile2643MetfsTer18) | |
13 | g.32363228A= | CA2082834575 | BRCA2 | c.8026A= (p.Met2676=) c.7657A= (p.Met2553=) c.493A= (p.Met165=) c.8034A= (n.8034A=) c.591A= c.7930A= (p.Met2644=) | |
13 | g.32363228A>C | CA387748906 | BRCA2 | c.8026A>C (p.Met2676Leu) c.7657A>C (p.Met2553Leu) c.493A>C (p.Met165Leu) c.8034A>C (n.8034A>C) c.591A>C c.7930A>C (p.Met2644Leu) | ClinVar |
13 | g.32363228A>G | CA10583137 | BRCA2 | c.8026A>G (p.Met2676Val) c.7657A>G (p.Met2553Val) c.493A>G (p.Met165Val) c.8034A>G (n.8034A>G) c.591A>G c.7930A>G (p.Met2644Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363228A>T | CA387748909 | BRCA2 | c.8026A>T (p.Met2676Leu) c.7657A>T (p.Met2553Leu) c.493A>T (p.Met165Leu) c.8034A>T (n.8034A>T) c.591A>T c.7930A>T (p.Met2644Leu) | |
13 | g.32363229T>A | CA387748913 | BRCA2 | c.8027T>A (p.Met2676Lys) c.7658T>A (p.Met2553Lys) c.494T>A (p.Met165Lys) c.8035T>A (n.8035T>A) c.592T>A c.7931T>A (p.Met2644Lys) | |
13 | g.32363229T>C | CA025411 | BRCA2 | c.8027T>C (p.Met2676Thr) c.7658T>C (p.Met2553Thr) c.494T>C (p.Met165Thr) c.8035T>C (n.8035T>C) c.592T>C c.7931T>C (p.Met2644Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363229T>G | CA387748917 | BRCA2 | c.8027T>G (p.Met2676Arg) c.7658T>G (p.Met2553Arg) c.494T>G (p.Met165Arg) c.8035T>G (n.8035T>G) c.592T>G c.7931T>G (p.Met2644Arg) | |
13 | g.32363229T= | CA2082834602 | BRCA2 | c.8027T= (p.Met2676=) c.7658T= (p.Met2553=) c.494T= (p.Met165=) c.8035T= (n.8035T=) c.592T= c.7931T= (p.Met2644=) | |
13 | g.32363229_32363230delinsTG | CA2082834607 | BRCA2 | c.8027_8028delinsTG (p.Met2676=) c.7658_7659delinsTG (p.Met2553=) c.494_495delinsTG (p.Met165=) c.8035_8036delinsTG (n.8035_8036delinsTG) c.592_593delinsTG c.7931_7932delinsTG (p.Met2644=) | |
13 | g.32363230G>A | CA387748922 | BRCA2 | c.8028G>A (p.Met2676Ile) c.7659G>A (p.Met2553Ile) c.495G>A (p.Met165Ile) c.8036G>A (n.8036G>A) c.593G>A c.7932G>A (p.Met2644Ile) | dbSNP |
13 | g.32363230G>C | CA387748924 | BRCA2 | c.8028G>C (p.Met2676Ile) c.7659G>C (p.Met2553Ile) c.495G>C (p.Met165Ile) c.8036G>C (n.8036G>C) c.593G>C c.7932G>C (p.Met2644Ile) | dbSNP |
13 | g.32363230G>T | CA387748927 | BRCA2 | c.8028G>T (p.Met2676Ile) c.7659G>T (p.Met2553Ile) c.495G>T (p.Met165Ile) c.8036G>T (n.8036G>T) c.593G>T c.7932G>T (p.Met2644Ile) | |
13 | g.32363231del | CA025413 | BRCA2 | c.8029del (p.Glu2677LysfsTer17) c.7660del (p.Glu2554LysfsTer17) c.496del (p.Glu166LysfsTer17) c.8037del (n.8037del) c.594del c.7933del (p.Glu2645LysfsTer17) | ClinVar dbSNP |
13 | g.32363230_32363232delinsGGA | CA2082834614 | BRCA2 | c.8028_8030delinsGGA (p.Met2676=) c.7659_7661delinsGGA (p.Met2553=) c.495_497delinsGGA (p.Met165=) c.8036_8038delinsGGA (n.8036_8038delinsGGA) c.593_595delinsGGA c.7932_7934delinsGGA (p.Met2644=) | |
13 | g.32363231G>A | CA387748933 | BRCA2 | c.8029G>A (p.Glu2677Lys) c.7660G>A (p.Glu2554Lys) c.496G>A (p.Glu166Lys) c.8037G>A (n.8037G>A) c.594G>A c.7933G>A (p.Glu2645Lys) | ClinVar dbSNP |
13 | g.32363231G>C | CA387748931 | BRCA2 | c.8029G>C (p.Glu2677Gln) c.7660G>C (p.Glu2554Gln) c.496G>C (p.Glu166Gln) c.8037G>C (n.8037G>C) c.594G>C c.7933G>C (p.Glu2645Gln) | dbSNP COSMIC COSMIC |
13 | g.32363231G= | CA2082834669 | BRCA2 | c.8029G= (p.Glu2677=) c.7660G= (p.Glu2554=) c.496G= (p.Glu166=) c.8037G= (n.8037G=) c.594G= c.7933G= (p.Glu2645=) | |
13 | g.32363231G>T | CA387748934 | BRCA2 | c.8029G>T (p.Glu2677Ter) c.7660G>T (p.Glu2554Ter) c.496G>T (p.Glu166Ter) c.8037G>T (n.8037G>T) c.594G>T c.7933G>T (p.Glu2645Ter) | ClinVar dbSNP |
13 | g.32363231_32363232del | CA025412 | BRCA2 | c.8029_8030del (p.Glu2677LysfsTer3) c.7660_7661del (p.Glu2554LysfsTer3) c.496_497del (p.Glu166LysfsTer3) c.8037_8038del (n.8037_8038del) c.594_595del c.7933_7934del (p.Glu2645LysfsTer3) | ClinVar dbSNP |
13 | g.32363231_32363232delinsGA | CA2082834657 | BRCA2 | c.8029_8030delinsGA (p.Glu2677=) c.7660_7661delinsGA (p.Glu2554=) c.496_497delinsGA (p.Glu166=) c.8037_8038delinsGA (n.8037_8038delinsGA) c.594_595delinsGA c.7933_7934delinsGA (p.Glu2645=) | |
13 | g.32363232A>C | CA387748935 | BRCA2 | c.8030A>C (p.Glu2677Ala) c.7661A>C (p.Glu2554Ala) c.497A>C (p.Glu166Ala) c.8038A>C (n.8038A>C) c.595A>C c.7934A>C (p.Glu2645Ala) | |
13 | g.32363232A>G | CA387748936 | BRCA2 | c.8030A>G (p.Glu2677Gly) c.7661A>G (p.Glu2554Gly) c.497A>G (p.Glu166Gly) c.8038A>G (n.8038A>G) c.595A>G c.7934A>G (p.Glu2645Gly) | |
13 | g.32363232A>T | CA387748937 | BRCA2 | c.8030A>T (p.Glu2677Val) c.7661A>T (p.Glu2554Val) c.497A>T (p.Glu166Val) c.8038A>T (n.8038A>T) c.595A>T c.7934A>T (p.Glu2645Val) | dbSNP |
13 | g.32363234del | CA658823759 | BRCA2 | c.8032del (p.Arg2678GlyfsTer16) c.7663del (p.Arg2555GlyfsTer16) c.499del (p.Arg167GlyfsTer16) c.8040del (n.8040del) c.597del c.7936del (p.Arg2646GlyfsTer16) | ClinVar dbSNP |
13 | g.32363233A= | CA2082834689 | BRCA2 | c.8031A= (p.Glu2677=) c.7662A= (p.Glu2554=) c.498A= (p.Glu166=) c.8039A= (n.8039A=) c.596A= c.7935A= (p.Glu2645=) | |
13 | g.32363233A>C | CA387748940 | BRCA2 | c.8031A>C (p.Glu2677Asp) c.7662A>C (p.Glu2554Asp) c.498A>C (p.Glu166Asp) c.8039A>C (n.8039A>C) c.596A>C c.7935A>C (p.Glu2645Asp) | |
13 | g.32363233A>G | CA483439493 | BRCA2 | c.8031A>G (p.Glu2677=) c.7662A>G (p.Glu2554=) c.498A>G (p.Glu166=) c.8039A>G (n.8039A>G) c.596A>G c.7935A>G (p.Glu2645=) | |
13 | g.32363233A>T | CA387748945 | BRCA2 | c.8031A>T (p.Glu2677Asp) c.7662A>T (p.Glu2554Asp) c.498A>T (p.Glu166Asp) c.8039A>T (n.8039A>T) c.596A>T c.7935A>T (p.Glu2645Asp) | dbSNP |
13 | g.32363234A= | CA2082834702 | BRCA2 | c.8032A= (p.Arg2678=) c.7663A= (p.Arg2555=) c.499A= (p.Arg167=) c.8040A= (n.8040A=) c.597A= c.7936A= (p.Arg2646=) | |
13 | g.32363234A>C | CA483439495 | BRCA2 | c.8032A>C (p.Arg2678=) c.7663A>C (p.Arg2555=) c.499A>C (p.Arg167=) c.8040A>C (n.8040A>C) c.597A>C c.7936A>C (p.Arg2646=) | |
13 | g.32363234A>G | CA025414 | BRCA2 | c.8032A>G (p.Arg2678Gly) c.7663A>G (p.Arg2555Gly) c.499A>G (p.Arg167Gly) c.8040A>G (n.8040A>G) c.597A>G c.7936A>G (p.Arg2646Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363234A>T | CA387748956 | BRCA2 | c.8032A>T (p.Arg2678Trp) c.7663A>T (p.Arg2555Trp) c.499A>T (p.Arg167Trp) c.8040A>T (n.8040A>T) c.597A>T c.7936A>T (p.Arg2646Trp) | dbSNP |
13 | g.32363234_32363235dup | CA025415 | BRCA2 | c.8032_8033dup (p.Asp2679GlyfsTer16) c.7663_7664dup (p.Asp2556GlyfsTer16) c.499_500dup (p.Asp168GlyfsTer16) c.8040_8041dup (n.8040_8041dup) c.597_598dup c.7936_7937dup (p.Asp2647GlyfsTer16) | ClinVar dbSNP |
13 | g.32363235G>A | CA387748961 | BRCA2 | c.8033G>A (p.Arg2678Lys) c.7664G>A (p.Arg2555Lys) c.500G>A (p.Arg167Lys) c.8041G>A (n.8041G>A) c.598G>A c.7937G>A (p.Arg2646Lys) | ClinVar dbSNP |
13 | g.32363235G>C | CA387748962 | BRCA2 | c.8033G>C (p.Arg2678Thr) c.7664G>C (p.Arg2555Thr) c.500G>C (p.Arg167Thr) c.8041G>C (n.8041G>C) c.598G>C c.7937G>C (p.Arg2646Thr) | dbSNP |
13 | g.32363235G>T | CA387748963 | BRCA2 | c.8033G>T (p.Arg2678Met) c.7664G>T (p.Arg2555Met) c.500G>T (p.Arg167Met) c.8041G>T (n.8041G>T) c.598G>T c.7937G>T (p.Arg2646Met) | dbSNP |
13 | g.32363235_32363248delinsGGGATGACACAGCT | CA2082834708 | BRCA2 | c.8033_8046delinsGGGATGACACAGCT (p.Arg2678=) c.7664_7677delinsGGGATGACACAGCT (p.Arg2555=) c.500_513delinsGGGATGACACAGCT (p.Arg167=) c.8041_8054delinsGGGATGACACAGCT (n.8041_8054delinsGGGATGACACAGCT) c.598_611delinsGGGATGACACAGCT c.7937_7950delinsGGGATGACACAGCT (p.Arg2646=) | |
13 | g.32363236G>A | CA483439497 | BRCA2 | c.8034G>A (p.Arg2678=) c.7665G>A (p.Arg2555=) c.501G>A (p.Arg167=) c.8042G>A (n.8042G>A) c.599G>A c.7938G>A (p.Arg2646=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363236G>C | CA387748965 | BRCA2 | c.8034G>C (p.Arg2678Ser) c.7665G>C (p.Arg2555Ser) c.501G>C (p.Arg167Ser) c.8042G>C (n.8042G>C) c.599G>C c.7938G>C (p.Arg2646Ser) | ClinVar dbSNP |
13 | g.32363236G= | CA2082834723 | BRCA2 | c.8034G= (p.Arg2678=) c.7665G= (p.Arg2555=) c.501G= (p.Arg167=) c.8042G= (n.8042G=) c.599G= c.7938G= (p.Arg2646=) | |
13 | g.32363236G>T | CA387748964 | BRCA2 | c.8034G>T (p.Arg2678Ser) c.7665G>T (p.Arg2555Ser) c.501G>T (p.Arg167Ser) c.8042G>T (n.8042G>T) c.599G>T c.7938G>T (p.Arg2646Ser) | dbSNP COSMIC |
13 | g.32363236_32363248delinsA | CA10590058 | BRCA2 | c.8034_8046delinsA (p.Asp2679_Ala2682del) c.7665_7677delinsA (p.Asp2556_Ala2559del) c.501_513delinsA (p.Asp168_Ala171del) c.8042_8054delinsA (n.8042_8054delinsA) c.599_611delinsA c.7938_7950delinsA (p.Asp2647_Ala2650del) | ClinVar dbSNP |
13 | g.32363237G>A | CA387748969 | BRCA2 | c.8035G>A (p.Asp2679Asn) c.7666G>A (p.Asp2556Asn) c.502G>A (p.Asp168Asn) c.8043G>A (n.8043G>A) c.600G>A c.7939G>A (p.Asp2647Asn) | ClinVar dbSNP |
13 | g.32363237G>C | CA387748972 | BRCA2 | c.8035G>C (p.Asp2679His) c.7666G>C (p.Asp2556His) c.502G>C (p.Asp168His) c.8043G>C (n.8043G>C) c.600G>C c.7939G>C (p.Asp2647His) | dbSNP |
13 | g.32363237G= | CA2082834733 | BRCA2 | c.8035G= (p.Asp2679=) c.7666G= (p.Asp2556=) c.502G= (p.Asp168=) c.8043G= (n.8043G=) c.600G= c.7939G= (p.Asp2647=) | |
13 | g.32363237G>T | CA025416 | BRCA2 | c.8035G>T (p.Asp2679Tyr) c.7666G>T (p.Asp2556Tyr) c.502G>T (p.Asp168Tyr) c.8043G>T (n.8043G>T) c.600G>T c.7939G>T (p.Asp2647Tyr) | ClinVar dbSNP |
13 | g.32363239_32363241del | CA2739277540 | BRCA2 | c.8037_8039del (p.Asp2680del) c.7668_7670del (p.Asp2557del) c.504_506del (p.Asp169del) c.8045_8047del (n.8045_8047del) c.602_604del c.7941_7943del (p.Asp2648del) | ClinVar |
13 | g.32363238del | CA2580087459 | BRCA2 | c.8036del (p.Asp2679ValfsTer15) c.7667del (p.Asp2556ValfsTer15) c.503del (p.Asp168ValfsTer15) c.8044del (n.8044del) c.601del c.7940del (p.Asp2647ValfsTer15) | ClinVar |
13 | g.32363238A= | CA2082834742 | BRCA2 | c.8036A= (p.Asp2679=) c.7667A= (p.Asp2556=) c.503A= (p.Asp168=) c.8044A= (n.8044A=) c.601A= c.7940A= (p.Asp2647=) | |
13 | g.32363238A>C | CA387748977 | BRCA2 | c.8036A>C (p.Asp2679Ala) c.7667A>C (p.Asp2556Ala) c.503A>C (p.Asp168Ala) c.8044A>C (n.8044A>C) c.601A>C c.7940A>C (p.Asp2647Ala) | |
13 | g.32363238A>G | CA025417 | BRCA2 | c.8036A>G (p.Asp2679Gly) c.7667A>G (p.Asp2556Gly) c.503A>G (p.Asp168Gly) c.8044A>G (n.8044A>G) c.601A>G c.7940A>G (p.Asp2647Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363238A>T | CA387748981 | BRCA2 | c.8036A>T (p.Asp2679Val) c.7667A>T (p.Asp2556Val) c.503A>T (p.Asp168Val) c.8044A>T (n.8044A>T) c.601A>T c.7940A>T (p.Asp2647Val) | ClinVar dbSNP |
13 | g.32363239T>A | CA387748985 | BRCA2 | c.8037T>A (p.Asp2679Glu) c.7668T>A (p.Asp2556Glu) c.504T>A (p.Asp168Glu) c.8045T>A (n.8045T>A) c.602T>A c.7941T>A (p.Asp2647Glu) | dbSNP gnomAD v4 |
13 | g.32363239T>C | CA483439499 | BRCA2 | c.8037T>C (p.Asp2679=) c.7668T>C (p.Asp2556=) c.504T>C (p.Asp168=) c.8045T>C (n.8045T>C) c.602T>C c.7941T>C (p.Asp2647=) | |
13 | g.32363239T>G | CA387748990 | BRCA2 | c.8037T>G (p.Asp2679Glu) c.7668T>G (p.Asp2556Glu) c.504T>G (p.Asp168Glu) c.8045T>G (n.8045T>G) c.602T>G c.7941T>G (p.Asp2647Glu) | dbSNP |
13 | g.32363240G>A | CA387748995 | BRCA2 | c.8038G>A (p.Asp2680Asn) c.7669G>A (p.Asp2557Asn) c.505G>A (p.Asp169Asn) c.8046G>A (n.8046G>A) c.603G>A c.7942G>A (p.Asp2648Asn) | ClinVar dbSNP |
13 | g.32363240G>C | CA387748998 | BRCA2 | c.8038G>C (p.Asp2680His) c.7669G>C (p.Asp2557His) c.505G>C (p.Asp169His) c.8046G>C (n.8046G>C) c.603G>C c.7942G>C (p.Asp2648His) | dbSNP |
13 | g.32363240G>T | CA387748999 | BRCA2 | c.8038G>T (p.Asp2680Tyr) c.7669G>T (p.Asp2557Tyr) c.505G>T (p.Asp169Tyr) c.8046G>T (n.8046G>T) c.603G>T c.7942G>T (p.Asp2648Tyr) | |
13 | g.32363240_32363242delinsGAC | CA2082834747 | BRCA2 | c.8038_8040delinsGAC (p.Asp2680=) c.7669_7671delinsGAC (p.Asp2557=) c.505_507delinsGAC (p.Asp169=) c.8046_8048delinsGAC (n.8046_8048delinsGAC) c.603_605delinsGAC c.7942_7944delinsGAC (p.Asp2648=) | |
13 | g.32363241A= | CA2082834763 | BRCA2 | c.8039A= (p.Asp2680=) c.7670A= (p.Asp2557=) c.506A= (p.Asp169=) c.8047A= (n.8047A=) c.604A= c.7943A= (p.Asp2648=) | |
13 | g.32363241A>C | CA387749003 | BRCA2 | c.8039A>C (p.Asp2680Ala) c.7670A>C (p.Asp2557Ala) c.506A>C (p.Asp169Ala) c.8047A>C (n.8047A>C) c.604A>C c.7943A>C (p.Asp2648Ala) | |
13 | g.32363241A>G | CA025418 | BRCA2 | c.8039A>G (p.Asp2680Gly) c.7670A>G (p.Asp2557Gly) c.506A>G (p.Asp169Gly) c.8047A>G (n.8047A>G) c.604A>G c.7943A>G (p.Asp2648Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32363241A>T | CA387749000 | BRCA2 | c.8039A>T (p.Asp2680Val) c.7670A>T (p.Asp2557Val) c.506A>T (p.Asp169Val) c.8047A>T (n.8047A>T) c.604A>T c.7943A>T (p.Asp2648Val) | dbSNP |
13 | g.32363244_32363245dup | CA2695217955 | BRCA2 | c.8042_8043dup (p.Ala2682GlnfsTer13) c.7673_7674dup (p.Ala2559GlnfsTer13) c.509_510dup (p.Ala171GlnfsTer13) c.8050_8051dup (n.8050_8051dup) c.607_608dup c.7946_7947dup (p.Ala2650GlnfsTer13) | |
13 | g.32363244_32363245del | CA025419 | BRCA2 | c.8042_8043del (p.Thr2681SerfsTer11) c.7673_7674del (p.Thr2558SerfsTer11) c.509_510del (p.Thr170SerfsTer11) c.8050_8051del (n.8050_8051del) c.607_608del c.7946_7947del (p.Thr2649SerfsTer11) | ClinVar dbSNP |
13 | g.32363242C>A | CA387749007 | BRCA2 | c.8040C>A (p.Asp2680Glu) c.7671C>A (p.Asp2557Glu) c.507C>A (p.Asp169Glu) c.8048C>A (n.8048C>A) c.605C>A c.7944C>A (p.Asp2648Glu) | dbSNP |
13 | g.32363242C= | CA2082834771 | BRCA2 | c.8040C= (p.Asp2680=) c.7671C= (p.Asp2557=) c.507C= (p.Asp169=) c.8048C= (n.8048C=) c.605C= c.7944C= (p.Asp2648=) | |
13 | g.32363242C>G | CA10579765 | BRCA2 | c.8040C>G (p.Asp2680Glu) c.7671C>G (p.Asp2557Glu) c.507C>G (p.Asp169Glu) c.8048C>G (n.8048C>G) c.605C>G c.7944C>G (p.Asp2648Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363242C>T | CA483439502 | BRCA2 | c.8040C>T (p.Asp2680=) c.7671C>T (p.Asp2557=) c.507C>T (p.Asp169=) c.8048C>T (n.8048C>T) c.605C>T c.7944C>T (p.Asp2648=) | ClinVar dbSNP |
13 | g.32363243A>C | CA387749012 | BRCA2 | c.8041A>C (p.Thr2681Pro) c.7672A>C (p.Thr2558Pro) c.508A>C (p.Thr170Pro) c.8049A>C (n.8049A>C) c.606A>C c.7945A>C (p.Thr2649Pro) | ClinVar dbSNP |
13 | g.32363243A>G | CA387749015 | BRCA2 | c.8041A>G (p.Thr2681Ala) c.7672A>G (p.Thr2558Ala) c.508A>G (p.Thr170Ala) c.8049A>G (n.8049A>G) c.606A>G c.7945A>G (p.Thr2649Ala) | ClinVar dbSNP |
13 | g.32363243A>T | CA387749014 | BRCA2 | c.8041A>T (p.Thr2681Ser) c.7672A>T (p.Thr2558Ser) c.508A>T (p.Thr170Ser) c.8049A>T (n.8049A>T) c.606A>T c.7945A>T (p.Thr2649Ser) | dbSNP |
13 | g.32363244C>A | CA387749016 | BRCA2 | c.8042C>A (p.Thr2681Lys) c.7673C>A (p.Thr2558Lys) c.509C>A (p.Thr170Lys) c.8050C>A (n.8050C>A) c.607C>A c.7946C>A (p.Thr2649Lys) | dbSNP |
13 | g.32363244C= | CA2082834789 | BRCA2 | c.8042C= (p.Thr2681=) c.7673C= (p.Thr2558=) c.509C= (p.Thr170=) c.8050C= (n.8050C=) c.607C= c.7946C= (p.Thr2649=) | |
13 | g.32363244C>G | CA025420 | BRCA2 | c.8042C>G (p.Thr2681Arg) c.7673C>G (p.Thr2558Arg) c.509C>G (p.Thr170Arg) c.8050C>G (n.8050C>G) c.607C>G c.7946C>G (p.Thr2649Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363244C>T | CA387749017 | BRCA2 | c.8042C>T (p.Thr2681Ile) c.7673C>T (p.Thr2558Ile) c.509C>T (p.Thr170Ile) c.8050C>T (n.8050C>T) c.607C>T c.7946C>T (p.Thr2649Ile) | ClinVar dbSNP |
13 | g.32363245del | CA2580087462 | BRCA2 | c.8043del (p.Ala2682LeufsTer12) c.7674del (p.Ala2559LeufsTer12) c.510del (p.Ala171LeufsTer12) c.8051del (n.8051del) c.608del c.7947del (p.Ala2650LeufsTer12) | ClinVar |
13 | g.32363245A>C | CA483439506 | BRCA2 | c.8043A>C (p.Thr2681=) c.7674A>C (p.Thr2558=) c.510A>C (p.Thr170=) c.8051A>C (n.8051A>C) c.608A>C c.7947A>C (p.Thr2649=) | |
13 | g.32363245A>G | CA483439507 | BRCA2 | c.8043A>G (p.Thr2681=) c.7674A>G (p.Thr2558=) c.510A>G (p.Thr170=) c.8051A>G (n.8051A>G) c.608A>G c.7947A>G (p.Thr2649=) | dbSNP |
13 | g.32363245A>T | CA483439508 | BRCA2 | c.8043A>T (p.Thr2681=) c.7674A>T (p.Thr2558=) c.510A>T (p.Thr170=) c.8051A>T (n.8051A>T) c.608A>T c.7947A>T (p.Thr2649=) | dbSNP |
13 | g.32363246G>A | CA387749028 | BRCA2 | c.8044G>A (p.Ala2682Thr) c.7675G>A (p.Ala2559Thr) c.511G>A (p.Ala171Thr) c.8052G>A (n.8052G>A) c.609G>A c.7948G>A (p.Ala2650Thr) | ClinVar dbSNP |
13 | g.32363246G>C | CA387749019 | BRCA2 | c.8044G>C (p.Ala2682Pro) c.7675G>C (p.Ala2559Pro) c.511G>C (p.Ala171Pro) c.8052G>C (n.8052G>C) c.609G>C c.7948G>C (p.Ala2650Pro) | dbSNP |
13 | g.32363246G>T | CA387749025 | BRCA2 | c.8044G>T (p.Ala2682Ser) c.7675G>T (p.Ala2559Ser) c.511G>T (p.Ala171Ser) c.8052G>T (n.8052G>T) c.609G>T c.7948G>T (p.Ala2650Ser) | |
13 | g.32363247C>A | CA387749032 | BRCA2 | c.8045C>A (p.Ala2682Asp) c.7676C>A (p.Ala2559Asp) c.512C>A (p.Ala171Asp) c.8053C>A (n.8053C>A) c.610C>A c.7949C>A (p.Ala2650Asp) | dbSNP |
13 | g.32363247C= | CA2082834796 | BRCA2 | c.8045C= (p.Ala2682=) c.7676C= (p.Ala2559=) c.512C= (p.Ala171=) c.8053C= (n.8053C=) c.610C= c.7949C= (p.Ala2650=) | |
13 | g.32363247C>G | CA387749037 | BRCA2 | c.8045C>G (p.Ala2682Gly) c.7676C>G (p.Ala2559Gly) c.512C>G (p.Ala171Gly) c.8053C>G (n.8053C>G) c.610C>G c.7949C>G (p.Ala2650Gly) | dbSNP |
13 | g.32363247C>T | CA6941183 | BRCA2 | c.8045C>T (p.Ala2682Val) c.7676C>T (p.Ala2559Val) c.512C>T (p.Ala171Val) c.8053C>T (n.8053C>T) c.610C>T c.7949C>T (p.Ala2650Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363248T>A | CA483439510 | BRCA2 | c.8046T>A (p.Ala2682=) c.7677T>A (p.Ala2559=) c.513T>A (p.Ala171=) c.8054T>A (n.8054T>A) c.611T>A c.7950T>A (p.Ala2650=) | dbSNP |
13 | g.32363248T>C | CA483439511 | BRCA2 | c.8046T>C (p.Ala2682=) c.7677T>C (p.Ala2559=) c.513T>C (p.Ala171=) c.8054T>C (n.8054T>C) c.611T>C c.7950T>C (p.Ala2650=) | dbSNP |
13 | g.32363248T>G | CA483439513 | BRCA2 | c.8046T>G (p.Ala2682=) c.7677T>G (p.Ala2559=) c.513T>G (p.Ala171=) c.8054T>G (n.8054T>G) c.611T>G c.7950T>G (p.Ala2650=) | |
13 | g.32363248T= | CA2082834804 | BRCA2 | c.8046T= (p.Ala2682=) c.7677T= (p.Ala2559=) c.513T= (p.Ala171=) c.8054T= (n.8054T=) c.611T= c.7950T= (p.Ala2650=) | |
13 | g.32363249G>A | CA387749041 | BRCA2 | c.8047G>A (p.Ala2683Thr) c.7678G>A (p.Ala2560Thr) c.514G>A (p.Ala172Thr) c.8055G>A (n.8055G>A) c.612G>A c.7951G>A (p.Ala2651Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363249G>C | CA387749042 | BRCA2 | c.8047G>C (p.Ala2683Pro) c.7678G>C (p.Ala2560Pro) c.514G>C (p.Ala172Pro) c.8055G>C (n.8055G>C) c.612G>C c.7951G>C (p.Ala2651Pro) | dbSNP |
13 | g.32363249G= | CA2082834816 | BRCA2 | c.8047G= (p.Ala2683=) c.7678G= (p.Ala2560=) c.514G= (p.Ala172=) c.8055G= (n.8055G=) c.612G= c.7951G= (p.Ala2651=) | |
13 | g.32363249G>T | CA387749044 | BRCA2 | c.8047G>T (p.Ala2683Ser) c.7678G>T (p.Ala2560Ser) c.514G>T (p.Ala172Ser) c.8055G>T (n.8055G>T) c.612G>T c.7951G>T (p.Ala2651Ser) | ClinVar dbSNP |
13 | g.32363249_32363256dup | CA025424 | BRCA2 | c.8047_8054dup (p.Leu2686GlnfsTer11) c.7678_7685dup (p.Leu2563GlnfsTer11) c.514_521dup (p.Leu175GlnfsTer11) c.8055_8062dup (n.8055_8062dup) c.612_619dup c.7951_7958dup (p.Leu2654GlnfsTer11) | ClinVar dbSNP |
13 | g.32363250C>A | CA387749047 | BRCA2 | c.8048C>A (p.Ala2683Glu) c.7679C>A (p.Ala2560Glu) c.515C>A (p.Ala172Glu) c.8056C>A (n.8056C>A) c.613C>A c.7952C>A (p.Ala2651Glu) | |
13 | g.32363250C= | CA2082834828 | BRCA2 | c.8048C= (p.Ala2683=) c.7679C= (p.Ala2560=) c.515C= (p.Ala172=) c.8056C= (n.8056C=) c.613C= c.7952C= (p.Ala2651=) | |
13 | g.32363250C>G | CA387749049 | BRCA2 | c.8048C>G (p.Ala2683Gly) c.7679C>G (p.Ala2560Gly) c.515C>G (p.Ala172Gly) c.8056C>G (n.8056C>G) c.613C>G c.7952C>G (p.Ala2651Gly) | ClinVar dbSNP |
13 | g.32363250C>T | CA387749051 | BRCA2 | c.8048C>T (p.Ala2683Val) c.7679C>T (p.Ala2560Val) c.515C>T (p.Ala172Val) c.8056C>T (n.8056C>T) c.613C>T c.7952C>T (p.Ala2651Val) | ClinVar |
13 | g.32363250_32363251delinsCA | CA2082834824 | BRCA2 | c.8048_8049delinsCA (p.Ala2683=) c.7679_7680delinsCA (p.Ala2560=) c.515_516delinsCA (p.Ala172=) c.8056_8057delinsCA (n.8056_8057delinsCA) c.613_614delinsCA c.7952_7953delinsCA (p.Ala2651=) | |
13 | g.32363250_32363251insT | CA658823760 | BRCA2 | c.8048_8049insT (p.Thr2685AsnfsTer8) c.7679_7680insT (p.Thr2562AsnfsTer8) c.515_516insT (p.Thr174AsnfsTer8) c.8056_8057insT (n.8056_8057insT) c.613_614insT c.7952_7953insT (p.Thr2653AsnfsTer8) | ClinVar dbSNP |
13 | g.32363251A= | CA2082834845 | BRCA2 | c.8049A= (p.Ala2683=) c.7680A= (p.Ala2560=) c.516A= (p.Ala172=) c.8057A= (n.8057A=) c.614A= c.7953A= (p.Ala2651=) | |
13 | g.32363251A>C | CA483439517 | BRCA2 | c.8049A>C (p.Ala2683=) c.7680A>C (p.Ala2560=) c.516A>C (p.Ala172=) c.8057A>C (n.8057A>C) c.614A>C c.7953A>C (p.Ala2651=) | dbSNP |
13 | g.32363251A>G | CA483439518 | BRCA2 | c.8049A>G (p.Ala2683=) c.7680A>G (p.Ala2560=) c.516A>G (p.Ala172=) c.8057A>G (n.8057A>G) c.614A>G c.7953A>G (p.Ala2651=) | |
13 | g.32363251A>T | CA483439519 | BRCA2 | c.8049A>T (p.Ala2683=) c.7680A>T (p.Ala2560=) c.516A>T (p.Ala172=) c.8057A>T (n.8057A>T) c.614A>T c.7953A>T (p.Ala2651=) | |
13 | g.32363255dup | CA025422 | BRCA2 | c.8053dup (p.Thr2685AsnfsTer8) c.7684dup (p.Thr2562AsnfsTer8) c.520dup (p.Thr174AsnfsTer8) c.8061dup (n.8061dup) c.618dup c.7957dup (p.Thr2653AsnfsTer8) | ClinVar dbSNP |
13 | g.32363254_32363255dup | CA658683809 | BRCA2 | c.8052_8053dup (p.Thr2685LysfsTer10) c.7683_7684dup (p.Thr2562LysfsTer10) c.519_520dup (p.Thr174LysfsTer10) c.8060_8061dup (n.8060_8061dup) c.617_618dup c.7956_7957dup (p.Thr2653LysfsTer10) | ClinVar dbSNP |
13 | g.32363255del | CA025423 | BRCA2 | c.8053del (p.Thr2685HisfsTer9) c.7684del (p.Thr2562HisfsTer9) c.520del (p.Thr174HisfsTer9) c.8061del (n.8061del) c.618del c.7957del (p.Thr2653HisfsTer9) | ClinVar dbSNP |
13 | g.32363251_32363252insT | CA10589465 | BRCA2 | c.8049_8050insT (p.Lys2684Ter) c.7680_7681insT (p.Lys2561Ter) c.516_517insT (p.Lys173Ter) c.8057_8058insT (n.8057_8058insT) c.614_615insT c.7953_7954insT (p.Lys2652Ter) | ClinVar dbSNP |
13 | g.32363252A= | CA2082834862 | BRCA2 | c.8050A= (p.Lys2684=) c.7681A= (p.Lys2561=) c.517A= (p.Lys173=) c.8058A= (n.8058A=) c.615A= c.7954A= (p.Lys2652=) | |
13 | g.32363252A>C | CA387749062 | BRCA2 | c.8050A>C (p.Lys2684Gln) c.7681A>C (p.Lys2561Gln) c.517A>C (p.Lys173Gln) c.8058A>C (n.8058A>C) c.615A>C c.7954A>C (p.Lys2652Gln) | |
13 | g.32363252A>G | CA387749060 | BRCA2 | c.8050A>G (p.Lys2684Glu) c.7681A>G (p.Lys2561Glu) c.517A>G (p.Lys173Glu) c.8058A>G (n.8058A>G) c.615A>G c.7954A>G (p.Lys2652Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363252A>T | CA387749059 | BRCA2 | c.8050A>T (p.Lys2684Ter) c.7681A>T (p.Lys2561Ter) c.517A>T (p.Lys173Ter) c.8058A>T (n.8058A>T) c.615A>T c.7954A>T (p.Lys2652Ter) | |
13 | g.32363253A= | CA2082834872 | BRCA2 | c.8051A= (p.Lys2684=) c.7682A= (p.Lys2561=) c.518A= (p.Lys173=) c.8059A= (n.8059A=) c.616A= c.7955A= (p.Lys2652=) | |
13 | g.32363253A>C | CA387749066 | BRCA2 | c.8051A>C (p.Lys2684Thr) c.7682A>C (p.Lys2561Thr) c.518A>C (p.Lys173Thr) c.8059A>C (n.8059A>C) c.616A>C c.7955A>C (p.Lys2652Thr) | |
13 | g.32363253A>G | CA025421 | BRCA2 | c.8051A>G (p.Lys2684Arg) c.7682A>G (p.Lys2561Arg) c.518A>G (p.Lys173Arg) c.8059A>G (n.8059A>G) c.616A>G c.7955A>G (p.Lys2652Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32363253A>T | CA387749070 | BRCA2 | c.8051A>T (p.Lys2684Ile) c.7682A>T (p.Lys2561Ile) c.518A>T (p.Lys173Ile) c.8059A>T (n.8059A>T) c.616A>T c.7955A>T (p.Lys2652Ile) | dbSNP COSMIC COSMIC |
13 | g.32363254A>C | CA387749075 | BRCA2 | c.8052A>C (p.Lys2684Asn) c.7683A>C (p.Lys2561Asn) c.519A>C (p.Lys173Asn) c.8060A>C (n.8060A>C) c.617A>C c.7956A>C (p.Lys2652Asn) | |
13 | g.32363254A>G | CA483439525 | BRCA2 | c.8052A>G (p.Lys2684=) c.7683A>G (p.Lys2561=) c.519A>G (p.Lys173=) c.8060A>G (n.8060A>G) c.617A>G c.7956A>G (p.Lys2652=) | dbSNP |
13 | g.32363254A>T | CA387749076 | BRCA2 | c.8052A>T (p.Lys2684Asn) c.7683A>T (p.Lys2561Asn) c.519A>T (p.Lys173Asn) c.8060A>T (n.8060A>T) c.617A>T c.7956A>T (p.Lys2652Asn) | ClinVar |
13 | g.32363254_32363256delinsAAC | CA2082834874 | BRCA2 | c.8052_8054delinsAAC (p.Lys2684=) c.7683_7685delinsAAC (p.Lys2561=) c.519_521delinsAAC (p.Lys173=) c.8060_8062delinsAAC (n.8060_8062delinsAAC) c.617_619delinsAAC c.7956_7958delinsAAC (p.Lys2652=) | |
13 | g.32363255A= | CA2082834881 | BRCA2 | c.8053A= (p.Thr2685=) c.7684A= (p.Thr2562=) c.520A= (p.Thr174=) c.8061A= (n.8061A=) c.618A= c.7957A= (p.Thr2653=) | |
13 | g.32363255A>C | CA387749078 | BRCA2 | c.8053A>C (p.Thr2685Pro) c.7684A>C (p.Thr2562Pro) c.520A>C (p.Thr174Pro) c.8061A>C (n.8061A>C) c.618A>C c.7957A>C (p.Thr2653Pro) | ClinVar dbSNP |
13 | g.32363255A>G | CA387749080 | BRCA2 | c.8053A>G (p.Thr2685Ala) c.7684A>G (p.Thr2562Ala) c.520A>G (p.Thr174Ala) c.8061A>G (n.8061A>G) c.618A>G c.7957A>G (p.Thr2653Ala) | dbSNP |
13 | g.32363255A>T | CA6941184 | BRCA2 | c.8053A>T (p.Thr2685Ser) c.7684A>T (p.Thr2562Ser) c.520A>T (p.Thr174Ser) c.8061A>T (n.8061A>T) c.618A>T c.7957A>T (p.Thr2653Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363257_32363258del | CA915946888 | BRCA2 | c.8055_8056del (p.Leu2686CysfsTer6) c.7686_7687del (p.Leu2563CysfsTer6) c.522_523del (p.Leu175CysfsTer6) c.8063_8064del (n.8063_8064del) c.620_621del c.7959_7960del (p.Leu2654CysfsTer6) | ClinVar dbSNP |
13 | g.32363256C>A | CA387749086 | BRCA2 | c.8054C>A (p.Thr2685Lys) c.7685C>A (p.Thr2562Lys) c.521C>A (p.Thr174Lys) c.8062C>A (n.8062C>A) c.619C>A c.7958C>A (p.Thr2653Lys) | |
13 | g.32363256C= | CA2082834896 | BRCA2 | c.8054C= (p.Thr2685=) c.7685C= (p.Thr2562=) c.521C= (p.Thr174=) c.8062C= (n.8062C=) c.619C= c.7958C= (p.Thr2653=) | |
13 | g.32363256C>G | CA387749089 | BRCA2 | c.8054C>G (p.Thr2685Arg) c.7685C>G (p.Thr2562Arg) c.521C>G (p.Thr174Arg) c.8062C>G (n.8062C>G) c.619C>G c.7958C>G (p.Thr2653Arg) | ClinVar dbSNP |
13 | g.32363256C>T | CA387749091 | BRCA2 | c.8054C>T (p.Thr2685Ile) c.7685C>T (p.Thr2562Ile) c.521C>T (p.Thr174Ile) c.8062C>T (n.8062C>T) c.619C>T c.7958C>T (p.Thr2653Ile) | |
13 | g.32363257A= | CA2082834903 | BRCA2 | c.8055A= (p.Thr2685=) c.7686A= (p.Thr2562=) c.522A= (p.Thr174=) c.8063A= (n.8063A=) c.620A= c.7959A= (p.Thr2653=) | |
13 | g.32363257A>C | CA483439529 | BRCA2 | c.8055A>C (p.Thr2685=) c.7686A>C (p.Thr2562=) c.522A>C (p.Thr174=) c.8063A>C (n.8063A>C) c.620A>C c.7959A>C (p.Thr2653=) | dbSNP gnomAD v4 |
13 | g.32363257A>G | CA483439528 | BRCA2 | c.8055A>G (p.Thr2685=) c.7686A>G (p.Thr2562=) c.522A>G (p.Thr174=) c.8063A>G (n.8063A>G) c.620A>G c.7959A>G (p.Thr2653=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363257A>T | CA10579766 | BRCA2 | c.8055A>T (p.Thr2685=) c.7686A>T (p.Thr2562=) c.522A>T (p.Thr174=) c.8063A>T (n.8063A>T) c.620A>T c.7959A>T (p.Thr2653=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363257_32363258delinsAC | CA2082834912 | BRCA2 | c.8055_8056delinsAC (p.Thr2685=) c.7686_7687delinsAC (p.Thr2562=) c.522_523delinsAC (p.Thr174=) c.8063_8064delinsAC (n.8063_8064delinsAC) c.620_621delinsAC c.7959_7960delinsAC (p.Thr2653=) | |
13 | g.32363258del | CA10589466 | BRCA2 | c.8056del (p.Val2687PhefsTer7) c.7687del (p.Val2564PhefsTer7) c.523del (p.Val176PhefsTer7) c.8064del (n.8064del) c.621del c.7960del (p.Val2655PhefsTer7) | ClinVar dbSNP |
13 | g.32363258C>A | CA387749097 | BRCA2 | c.8056C>A (p.Leu2686Ile) c.7687C>A (p.Leu2563Ile) c.523C>A (p.Leu175Ile) c.8064C>A (n.8064C>A) c.621C>A c.7960C>A (p.Leu2654Ile) | |
13 | g.32363258C= | CA2082834928 | BRCA2 | c.8056C= (p.Leu2686=) c.7687C= (p.Leu2563=) c.523C= (p.Leu175=) c.8064C= (n.8064C=) c.621C= c.7960C= (p.Leu2654=) | |
13 | g.32363258C>G | CA16613954 | BRCA2 | c.8056C>G (p.Leu2686Val) c.7687C>G (p.Leu2563Val) c.523C>G (p.Leu175Val) c.8064C>G (n.8064C>G) c.621C>G c.7960C>G (p.Leu2654Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363258C>T | CA025426 | BRCA2 | c.8056C>T (p.Leu2686Phe) c.7687C>T (p.Leu2563Phe) c.523C>T (p.Leu175Phe) c.8064C>T (n.8064C>T) c.621C>T c.7960C>T (p.Leu2654Phe) | ClinVar dbSNP |
13 | g.32363258_32363259delinsCT | CA2082834925 | BRCA2 | c.8056_8057delinsCT (p.Leu2686=) c.7687_7688delinsCT (p.Leu2563=) c.523_524delinsCT (p.Leu175=) c.8064_8065delinsCT (n.8064_8065delinsCT) c.621_622delinsCT c.7960_7961delinsCT (p.Leu2654=) | |
13 | g.32363259T>A | CA387749100 | BRCA2 | c.8057T>A (p.Leu2686His) c.7688T>A (p.Leu2563His) c.524T>A (p.Leu175His) c.8065T>A (n.8065T>A) c.622T>A c.7961T>A (p.Leu2654His) | dbSNP |
13 | g.32363259T>C | CA025427 | BRCA2 | c.8057T>C (p.Leu2686Pro) c.7688T>C (p.Leu2563Pro) c.524T>C (p.Leu175Pro) c.8065T>C (n.8065T>C) c.622T>C c.7961T>C (p.Leu2654Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32363259T>G | CA387749102 | BRCA2 | c.8057T>G (p.Leu2686Arg) c.7688T>G (p.Leu2563Arg) c.524T>G (p.Leu175Arg) c.8065T>G (n.8065T>G) c.622T>G c.7961T>G (p.Leu2654Arg) | ClinVar dbSNP |
13 | g.32363259T= | CA2082834944 | BRCA2 | c.8057T= (p.Leu2686=) c.7688T= (p.Leu2563=) c.524T= (p.Leu175=) c.8065T= (n.8065T=) c.622T= c.7961T= (p.Leu2654=) | |
13 | g.32363260del | CA025428 | BRCA2 | c.8058del (p.Val2687PhefsTer7) c.7689del (p.Val2564PhefsTer7) c.525del (p.Val176PhefsTer7) c.8066del (n.8066del) c.623del c.7962del (p.Val2655PhefsTer7) | ClinVar dbSNP |
13 | g.32363260T>A | CA483439534 | BRCA2 | c.8058T>A (p.Leu2686=) c.7689T>A (p.Leu2563=) c.525T>A (p.Leu175=) c.8066T>A (n.8066T>A) c.623T>A c.7962T>A (p.Leu2654=) | dbSNP |
13 | g.32363260T>C | CA483439535 | BRCA2 | c.8058T>C (p.Leu2686=) c.7689T>C (p.Leu2563=) c.525T>C (p.Leu175=) c.8066T>C (n.8066T>C) c.623T>C c.7962T>C (p.Leu2654=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363260T>G | CA483439536 | BRCA2 | c.8058T>G (p.Leu2686=) c.7689T>G (p.Leu2563=) c.525T>G (p.Leu175=) c.8066T>G (n.8066T>G) c.623T>G c.7962T>G (p.Leu2654=) | |
13 | g.32363260T= | CA2082834955 | BRCA2 | c.8058T= (p.Leu2686=) c.7689T= (p.Leu2563=) c.525T= (p.Leu175=) c.8066T= (n.8066T=) c.623T= c.7962T= (p.Leu2654=) | |
13 | g.32363260_32363266delinsTGTTCTC | CA2082834953 | BRCA2 | c.8058_8064delinsTGTTCTC (p.Leu2686=) c.7689_7695delinsTGTTCTC (p.Leu2563=) c.525_531delinsTGTTCTC (p.Leu175=) c.8066_8072delinsTGTTCTC (n.8066_8072delinsTGTTCTC) c.623_629delinsTGTTCTC c.7962_7968delinsTGTTCTC (p.Leu2654=) | |
13 | g.32363261G>A | CA387749104 | BRCA2 | c.8059G>A (p.Val2687Ile) c.7690G>A (p.Val2564Ile) c.526G>A (p.Val176Ile) c.8067G>A (n.8067G>A) c.624G>A c.7963G>A (p.Val2655Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32363261G>C | CA387749107 | BRCA2 | c.8059G>C (p.Val2687Leu) c.7690G>C (p.Val2564Leu) c.526G>C (p.Val176Leu) c.8067G>C (n.8067G>C) c.624G>C c.7963G>C (p.Val2655Leu) | dbSNP |
13 | g.32363261G= | CA2082834982 | BRCA2 | c.8059G= (p.Val2687=) c.7690G= (p.Val2564=) c.526G= (p.Val176=) c.8067G= (n.8067G=) c.624G= c.7963G= (p.Val2655=) | |
13 | g.32363261G>T | CA025429 | BRCA2 | c.8059G>T (p.Val2687Phe) c.7690G>T (p.Val2564Phe) c.526G>T (p.Val176Phe) c.8067G>T (n.8067G>T) c.624G>T c.7963G>T (p.Val2655Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363261_32363266del | CA915946889 | BRCA2 | c.8059_8064del (p.Val2687_Leu2688del) c.7690_7695del (p.Val2564_Leu2565del) c.526_531del (p.Val176_Leu177del) c.8067_8072del (n.8067_8072del) c.624_629del c.7963_7968del (p.Val2655_Leu2656del) | ClinVar dbSNP |
13 | g.32363262T>A | CA387749108 | BRCA2 | c.8060T>A (p.Val2687Asp) c.7691T>A (p.Val2564Asp) c.527T>A (p.Val176Asp) c.8068T>A (n.8068T>A) c.625T>A c.7964T>A (p.Val2655Asp) | dbSNP |
13 | g.32363262T>C | CA6941185 | BRCA2 | c.8060T>C (p.Val2687Ala) c.7691T>C (p.Val2564Ala) c.527T>C (p.Val176Ala) c.8068T>C (n.8068T>C) c.625T>C c.7964T>C (p.Val2655Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363262T>G | CA387749111 | BRCA2 | c.8060T>G (p.Val2687Gly) c.7691T>G (p.Val2564Gly) c.527T>G (p.Val176Gly) c.8068T>G (n.8068T>G) c.625T>G c.7964T>G (p.Val2655Gly) | dbSNP |
13 | g.32363262T= | CA2082834989 | BRCA2 | c.8060T= (p.Val2687=) c.7691T= (p.Val2564=) c.527T= (p.Val176=) c.8068T= (n.8068T=) c.625T= c.7964T= (p.Val2655=) | |
13 | g.32363262_32363264delinsTTC | CA2082834996 | BRCA2 | c.8060_8062delinsTTC (p.Val2687=) c.7691_7693delinsTTC (p.Val2564=) c.527_529delinsTTC (p.Val176=) c.8068_8070delinsTTC (n.8068_8070delinsTTC) c.625_627delinsTTC c.7964_7966delinsTTC (p.Val2655=) | |
13 | g.32363263T>A | CA483439539 | BRCA2 | c.8061T>A (p.Val2687=) c.7692T>A (p.Val2564=) c.528T>A (p.Val176=) c.8069T>A (n.8069T>A) c.626T>A c.7965T>A (p.Val2655=) | dbSNP |
13 | g.32363263T>C | CA025431 | BRCA2 | c.8061T>C (p.Val2687=) c.7692T>C (p.Val2564=) c.528T>C (p.Val176=) c.8069T>C (n.8069T>C) c.626T>C c.7965T>C (p.Val2655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363263T>G | CA483439540 | BRCA2 | c.8061T>G (p.Val2687=) c.7692T>G (p.Val2564=) c.528T>G (p.Val176=) c.8069T>G (n.8069T>G) c.626T>G c.7965T>G (p.Val2655=) | |
13 | g.32363263T= | CA2082835010 | BRCA2 | c.8061T= (p.Val2687=) c.7692T= (p.Val2564=) c.528T= (p.Val176=) c.8069T= (n.8069T=) c.626T= c.7965T= (p.Val2655=) | |
13 | g.32363266_32363267dup | CA2580614681 | BRCA2 | c.8064_8065dup (p.Cys2689SerfsTer6) c.7695_7696dup (p.Cys2566SerfsTer6) c.531_532dup (p.Cys178SerfsTer6) c.8072_8073dup (n.8072_8073dup) c.629_630dup c.7968_7969dup (p.Cys2657SerfsTer6) | ClinVar |
13 | g.32363266_32363267del | CA025433 | BRCA2 | c.8064_8065del (p.Val2690PhefsTer2) c.7695_7696del (p.Val2567PhefsTer2) c.531_532del (p.Val179PhefsTer2) c.8072_8073del (n.8072_8073del) c.629_630del c.7968_7969del (p.Val2658PhefsTer2) | ClinVar dbSNP |
13 | g.32363264C>A | CA387749118 | BRCA2 | c.8062C>A (p.Leu2688Ile) c.7693C>A (p.Leu2565Ile) c.529C>A (p.Leu177Ile) c.8070C>A (n.8070C>A) c.627C>A c.7966C>A (p.Leu2656Ile) | ClinVar dbSNP |
13 | g.32363264C>G | CA387749115 | BRCA2 | c.8062C>G (p.Leu2688Val) c.7693C>G (p.Leu2565Val) c.529C>G (p.Leu177Val) c.8070C>G (n.8070C>G) c.627C>G c.7966C>G (p.Leu2656Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363264C>T | CA387749117 | BRCA2 | c.8062C>T (p.Leu2688Phe) c.7693C>T (p.Leu2565Phe) c.529C>T (p.Leu177Phe) c.8070C>T (n.8070C>T) c.627C>T c.7966C>T (p.Leu2656Phe) | dbSNP |
13 | g.32363265T>A | CA387749121 | BRCA2 | c.8063T>A (p.Leu2688His) c.7694T>A (p.Leu2565His) c.530T>A (p.Leu177His) c.8071T>A (n.8071T>A) c.628T>A c.7967T>A (p.Leu2656His) | |
13 | g.32363265T>C | CA025432 | BRCA2 | c.8063T>C (p.Leu2688Pro) c.7694T>C (p.Leu2565Pro) c.530T>C (p.Leu177Pro) c.8071T>C (n.8071T>C) c.628T>C c.7967T>C (p.Leu2656Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363265T>G | CA387749124 | BRCA2 | c.8063T>G (p.Leu2688Arg) c.7694T>G (p.Leu2565Arg) c.530T>G (p.Leu177Arg) c.8071T>G (n.8071T>G) c.628T>G c.7967T>G (p.Leu2656Arg) | |
13 | g.32363265T= | CA2082835016 | BRCA2 | c.8063T= (p.Leu2688=) c.7694T= (p.Leu2565=) c.530T= (p.Leu177=) c.8071T= (n.8071T=) c.628T= c.7967T= (p.Leu2656=) | |
13 | g.32363266C>A | CA483439541 | BRCA2 | c.8064C>A (p.Leu2688=) c.7695C>A (p.Leu2565=) c.531C>A (p.Leu177=) c.8072C>A (n.8072C>A) c.629C>A c.7968C>A (p.Leu2656=) | |
13 | g.32363266C= | CA2082835025 | BRCA2 | c.8064C= (p.Leu2688=) c.7695C= (p.Leu2565=) c.531C= (p.Leu177=) c.8072C= (n.8072C=) c.629C= c.7968C= (p.Leu2656=) | |
13 | g.32363266C>G | CA483439542 | BRCA2 | c.8064C>G (p.Leu2688=) c.7695C>G (p.Leu2565=) c.531C>G (p.Leu177=) c.8072C>G (n.8072C>G) c.629C>G c.7968C>G (p.Leu2656=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32363266C>T | CA16606443 | BRCA2 | c.8064C>T (p.Leu2688=) c.7695C>T (p.Leu2565=) c.531C>T (p.Leu177=) c.8072C>T (n.8072C>T) c.629C>T c.7968C>T (p.Leu2656=) | ClinVar dbSNP gnomAD v4 |
13 | g.32363266_32363268delinsCTG | CA2082835024 | BRCA2 | c.8064_8066delinsCTG (p.Leu2688=) c.7695_7697delinsCTG (p.Leu2565=) c.531_533delinsCTG (p.Leu177=) c.8072_8074delinsCTG (n.8072_8074delinsCTG) c.629_631delinsCTG c.7968_7970delinsCTG (p.Leu2656=) | |
13 | g.32363267T>A | CA387749127 | BRCA2 | c.8065T>A (p.Cys2689Ser) c.7696T>A (p.Cys2566Ser) c.532T>A (p.Cys178Ser) c.8073T>A (n.8073T>A) c.630T>A c.7969T>A (p.Cys2657Ser) | dbSNP |
13 | g.32363267T>C | CA387749128 | BRCA2 | c.8065T>C (p.Cys2689Arg) c.7696T>C (p.Cys2566Arg) c.532T>C (p.Cys178Arg) c.8073T>C (n.8073T>C) c.630T>C c.7969T>C (p.Cys2657Arg) | dbSNP |
13 | g.32363267T>G | CA387749129 | BRCA2 | c.8065T>G (p.Cys2689Gly) c.7696T>G (p.Cys2566Gly) c.532T>G (p.Cys178Gly) c.8073T>G (n.8073T>G) c.630T>G c.7969T>G (p.Cys2657Gly) | dbSNP |
13 | g.32363270_32363271del | CA025436 | BRCA2 | c.8068_8069del (p.Val2690PhefsTer2) c.7699_7700del (p.Val2567PhefsTer2) c.535_536del (p.Val179PhefsTer2) c.8076_8077del (n.8076_8077del) c.633_634del c.7972_7973del (p.Val2658PhefsTer2) | ClinVar dbSNP |
13 | g.32363268G>A | CA387749132 | BRCA2 | c.8066G>A (p.Cys2689Tyr) c.7697G>A (p.Cys2566Tyr) c.533G>A (p.Cys178Tyr) c.8074G>A (n.8074G>A) c.631G>A c.7970G>A (p.Cys2657Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32363268G>C | CA387749134 | BRCA2 | c.8066G>C (p.Cys2689Ser) c.7697G>C (p.Cys2566Ser) c.533G>C (p.Cys178Ser) c.8074G>C (n.8074G>C) c.631G>C c.7970G>C (p.Cys2657Ser) | ClinVar dbSNP |
13 | g.32363268G= | CA2082835037 | BRCA2 | c.8066G= (p.Cys2689=) c.7697G= (p.Cys2566=) c.533G= (p.Cys178=) c.8074G= (n.8074G=) c.631G= c.7970G= (p.Cys2657=) | |
13 | g.32363268G>T | CA387749135 | BRCA2 | c.8066G>T (p.Cys2689Phe) c.7697G>T (p.Cys2566Phe) c.533G>T (p.Cys178Phe) c.8074G>T (n.8074G>T) c.631G>T c.7970G>T (p.Cys2657Phe) | dbSNP |
13 | g.32363268_32363269delinsGT | CA2082835036 | BRCA2 | c.8066_8067delinsGT (p.Cys2689=) c.7697_7698delinsGT (p.Cys2566=) c.533_534delinsGT (p.Cys178=) c.8074_8075delinsGT (n.8074_8075delinsGT) c.631_632delinsGT c.7970_7971delinsGT (p.Cys2657=) | |
13 | g.32363269del | CA025434 | BRCA2 | c.8067del (p.Cys2689TrpfsTer5) c.7698del (p.Cys2566TrpfsTer5) c.534del (p.Cys178TrpfsTer5) c.8075del (n.8075del) c.632del c.7971del (p.Cys2657TrpfsTer5) | ClinVar dbSNP |
13 | g.32363269T>A | CA025435 | BRCA2 | c.8067T>A (p.Cys2689Ter) c.7698T>A (p.Cys2566Ter) c.534T>A (p.Cys178Ter) c.8075T>A (n.8075T>A) c.632T>A c.7971T>A (p.Cys2657Ter) | ClinVar dbSNP |
13 | g.32363269T>C | CA483439544 | BRCA2 | c.8067T>C (p.Cys2689=) c.7698T>C (p.Cys2566=) c.534T>C (p.Cys178=) c.8075T>C (n.8075T>C) c.632T>C c.7971T>C (p.Cys2657=) | ClinVar dbSNP |
13 | g.32363269T>G | CA387749145 | BRCA2 | c.8067T>G (p.Cys2689Trp) c.7698T>G (p.Cys2566Trp) c.534T>G (p.Cys178Trp) c.8075T>G (n.8075T>G) c.632T>G c.7971T>G (p.Cys2657Trp) | dbSNP |
13 | g.32363269T= | CA2082835057 | BRCA2 | c.8067T= (p.Cys2689=) c.7698T= (p.Cys2566=) c.534T= (p.Cys178=) c.8075T= (n.8075T=) c.632T= c.7971T= (p.Cys2657=) | |
13 | g.32363269_32363270insTT | CA10589467 | BRCA2 | c.8067_8068insTT (p.Val2690LeufsTer5) c.7698_7699insTT (p.Val2567LeufsTer5) c.534_535insTT (p.Val179LeufsTer5) c.8075_8076insTT (n.8075_8076insTT) c.632_633insTT c.7971_7972insTT (p.Val2658LeufsTer5) | ClinVar dbSNP |
13 | g.32363270G>A | CA025437 | BRCA2 | c.8068G>A (p.Val2690Ile) c.7699G>A (p.Val2567Ile) c.535G>A (p.Val179Ile) c.8076G>A (n.8076G>A) c.633G>A c.7972G>A (p.Val2658Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363270G>C | CA387749152 | BRCA2 | c.8068G>C (p.Val2690Leu) c.7699G>C (p.Val2567Leu) c.535G>C (p.Val179Leu) c.8076G>C (n.8076G>C) c.633G>C c.7972G>C (p.Val2658Leu) | ClinVar dbSNP |
13 | g.32363270G= | CA2082835073 | BRCA2 | c.8068G= (p.Val2690=) c.7699G= (p.Val2567=) c.535G= (p.Val179=) c.8076G= (n.8076G=) c.633G= c.7972G= (p.Val2658=) | |
13 | g.32363270G>T | CA387749156 | BRCA2 | c.8068G>T (p.Val2690Phe) c.7699G>T (p.Val2567Phe) c.535G>T (p.Val179Phe) c.8076G>T (n.8076G>T) c.633G>T c.7972G>T (p.Val2658Phe) | |
13 | g.32363271T>A | CA387749158 | BRCA2 | c.8069T>A (p.Val2690Asp) c.7700T>A (p.Val2567Asp) c.536T>A (p.Val179Asp) c.8077T>A (n.8077T>A) c.634T>A c.7973T>A (p.Val2658Asp) | dbSNP |
13 | g.32363271T>C | CA387749160 | BRCA2 | c.8069T>C (p.Val2690Ala) c.7700T>C (p.Val2567Ala) c.536T>C (p.Val179Ala) c.8077T>C (n.8077T>C) c.634T>C c.7973T>C (p.Val2658Ala) | |
13 | g.32363271T>G | CA387749161 | BRCA2 | c.8069T>G (p.Val2690Gly) c.7700T>G (p.Val2567Gly) c.536T>G (p.Val179Gly) c.8077T>G (n.8077T>G) c.634T>G c.7973T>G (p.Val2658Gly) | |
13 | g.32363272_32363273dup | CA025438 | BRCA2 | c.8070_8071dup (p.Ser2691PhefsTer4) c.7701_7702dup (p.Ser2568PhefsTer4) c.537_538dup (p.Ser180PhefsTer4) c.8078_8079dup (n.8078_8079dup) c.635_636dup c.7974_7975dup (p.Ser2659PhefsTer4) | ClinVar dbSNP |
13 | g.32363272T>A | CA483439551 | BRCA2 | c.8070T>A (p.Val2690=) c.7701T>A (p.Val2567=) c.537T>A (p.Val179=) c.8078T>A (n.8078T>A) c.635T>A c.7974T>A (p.Val2658=) | dbSNP |
13 | g.32363272T>C | CA483439552 | BRCA2 | c.8070T>C (p.Val2690=) c.7701T>C (p.Val2567=) c.537T>C (p.Val179=) c.8078T>C (n.8078T>C) c.635T>C c.7974T>C (p.Val2658=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363272T>G | CA483439553 | BRCA2 | c.8070T>G (p.Val2690=) c.7701T>G (p.Val2567=) c.537T>G (p.Val179=) c.8078T>G (n.8078T>G) c.635T>G c.7974T>G (p.Val2658=) | |
13 | g.32363272T= | CA2082835103 | BRCA2 | c.8070T= (p.Val2690=) c.7701T= (p.Val2567=) c.537T= (p.Val179=) c.8078T= (n.8078T=) c.635T= c.7974T= (p.Val2658=) | |
13 | g.32363272_32363274delinsTTC | CA2082835099 | BRCA2 | c.8070_8072delinsTTC (p.Val2690=) c.7701_7703delinsTTC (p.Val2567=) c.537_539delinsTTC (p.Val179=) c.8078_8080delinsTTC (n.8078_8080delinsTTC) c.635_637delinsTTC c.7974_7976delinsTTC (p.Val2658=) | |
13 | g.32363273T>A | CA387749165 | BRCA2 | c.8071T>A (p.Ser2691Thr) c.7702T>A (p.Ser2568Thr) c.538T>A (p.Ser180Thr) c.8079T>A (n.8079T>A) c.636T>A c.7975T>A (p.Ser2659Thr) | |
13 | g.32363273T>C | CA387749167 | BRCA2 | c.8071T>C (p.Ser2691Pro) c.7702T>C (p.Ser2568Pro) c.538T>C (p.Ser180Pro) c.8079T>C (n.8079T>C) c.636T>C c.7975T>C (p.Ser2659Pro) | |
13 | g.32363273T>G | CA387749170 | BRCA2 | c.8071T>G (p.Ser2691Ala) c.7702T>G (p.Ser2568Ala) c.538T>G (p.Ser180Ala) c.8079T>G (n.8079T>G) c.636T>G c.7975T>G (p.Ser2659Ala) | |
13 | g.32363274_32363275del | CA025439 | BRCA2 | c.8072_8073del (p.Ser2691Ter) c.7703_7704del (p.Ser2568Ter) c.539_540del (p.Ser180Ter) c.8080_8081del (n.8080_8081del) c.637_638del c.7976_7977del (p.Ser2659Ter) | ClinVar dbSNP |
13 | g.32363274C>A | CA387749179 | BRCA2 | c.8072C>A (p.Ser2691Tyr) c.7703C>A (p.Ser2568Tyr) c.539C>A (p.Ser180Tyr) c.8080C>A (n.8080C>A) c.637C>A c.7976C>A (p.Ser2659Tyr) | ClinVar dbSNP |
13 | g.32363274C= | CA2082835125 | BRCA2 | c.8072C= (p.Ser2691=) c.7703C= (p.Ser2568=) c.539C= (p.Ser180=) c.8080C= (n.8080C=) c.637C= c.7976C= (p.Ser2659=) | |
13 | g.32363274C>G | CA387749182 | BRCA2 | c.8072C>G (p.Ser2691Cys) c.7703C>G (p.Ser2568Cys) c.539C>G (p.Ser180Cys) c.8080C>G (n.8080C>G) c.637C>G c.7976C>G (p.Ser2659Cys) | dbSNP |
13 | g.32363274C>T | CA025440 | BRCA2 | c.8072C>T (p.Ser2691Phe) c.7703C>T (p.Ser2568Phe) c.539C>T (p.Ser180Phe) c.8080C>T (n.8080C>T) c.637C>T c.7976C>T (p.Ser2659Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32363275T>A | CA483439559 | BRCA2 | c.8073T>A (p.Ser2691=) c.7704T>A (p.Ser2568=) c.540T>A (p.Ser180=) c.8081T>A (n.8081T>A) c.638T>A c.7977T>A (p.Ser2659=) | dbSNP |
13 | g.32363275T>C | CA483439561 | BRCA2 | c.8073T>C (p.Ser2691=) c.7704T>C (p.Ser2568=) c.540T>C (p.Ser180=) c.8081T>C (n.8081T>C) c.638T>C c.7977T>C (p.Ser2659=) | |
13 | g.32363275T>G | CA483439562 | BRCA2 | c.8073T>G (p.Ser2691=) c.7704T>G (p.Ser2568=) c.540T>G (p.Ser180=) c.8081T>G (n.8081T>G) c.638T>G c.7977T>G (p.Ser2659=) | |
13 | g.32363276del | CA2695199718 | BRCA2 | c.8074del (p.Asp2692ThrfsTer2) c.7705del (p.Asp2569ThrfsTer2) c.541del (p.Asp181ThrfsTer2) c.8082del (n.8082del) c.639del c.7978del (p.Asp2660ThrfsTer2) | ClinVar |
13 | g.32363276G>A | CA387749195 | BRCA2 | c.8074G>A (p.Asp2692Asn) c.7705G>A (p.Asp2569Asn) c.541G>A (p.Asp181Asn) c.8082G>A (n.8082G>A) c.639G>A c.7978G>A (p.Asp2660Asn) | dbSNP |
13 | g.32363276G>C | CA387749191 | BRCA2 | c.8074G>C (p.Asp2692His) c.7705G>C (p.Asp2569His) c.541G>C (p.Asp181His) c.8082G>C (n.8082G>C) c.639G>C c.7978G>C (p.Asp2660His) | dbSNP |
13 | g.32363276G>T | CA387749193 | BRCA2 | c.8074G>T (p.Asp2692Tyr) c.7705G>T (p.Asp2569Tyr) c.541G>T (p.Asp181Tyr) c.8082G>T (n.8082G>T) c.639G>T c.7978G>T (p.Asp2660Tyr) | dbSNP |
13 | g.32363277A>C | CA387749197 | BRCA2 | c.8075A>C (p.Asp2692Ala) c.7706A>C (p.Asp2569Ala) c.542A>C (p.Asp181Ala) c.8083A>C (n.8083A>C) c.640A>C c.7979A>C (p.Asp2660Ala) | |
13 | g.32363277A>G | CA387749199 | BRCA2 | c.8075A>G (p.Asp2692Gly) c.7706A>G (p.Asp2569Gly) c.542A>G (p.Asp181Gly) c.8083A>G (n.8083A>G) c.640A>G c.7979A>G (p.Asp2660Gly) | ClinVar dbSNP |
13 | g.32363277A>T | CA387749201 | BRCA2 | c.8075A>T (p.Asp2692Val) c.7706A>T (p.Asp2569Val) c.542A>T (p.Asp181Val) c.8083A>T (n.8083A>T) c.640A>T c.7979A>T (p.Asp2660Val) | dbSNP |
13 | g.32363278C>A | CA387749206 | BRCA2 | c.8076C>A (p.Asp2692Glu) c.7707C>A (p.Asp2569Glu) c.543C>A (p.Asp181Glu) c.8084C>A (n.8084C>A) c.641C>A c.7980C>A (p.Asp2660Glu) | dbSNP gnomAD v4 |
13 | g.32363278C>G | CA387749207 | BRCA2 | c.8076C>G (p.Asp2692Glu) c.7707C>G (p.Asp2569Glu) c.543C>G (p.Asp181Glu) c.8084C>G (n.8084C>G) c.641C>G c.7980C>G (p.Asp2660Glu) | dbSNP |
13 | g.32363278C>T | CA483439567 | BRCA2 | c.8076C>T (p.Asp2692=) c.7707C>T (p.Asp2569=) c.543C>T (p.Asp181=) c.8084C>T (n.8084C>T) c.641C>T c.7980C>T (p.Asp2660=) | ClinVar dbSNP |
13 | g.32363279A= | CA2082835133 | BRCA2 | c.8077A= (p.Ile2693=) c.7708A= (p.Ile2570=) c.544A= (p.Ile182=) c.8085A= (n.8085A=) c.642A= c.7981A= (p.Ile2661=) | |
13 | g.32363279A>C | CA387749213 | BRCA2 | c.8077A>C (p.Ile2693Leu) c.7708A>C (p.Ile2570Leu) c.544A>C (p.Ile182Leu) c.8085A>C (n.8085A>C) c.642A>C c.7981A>C (p.Ile2661Leu) | |
13 | g.32363279A>G | CA16614227 | BRCA2 | c.8077A>G (p.Ile2693Val) c.7708A>G (p.Ile2570Val) c.544A>G (p.Ile182Val) c.8085A>G (n.8085A>G) c.642A>G c.7981A>G (p.Ile2661Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363279A>T | CA387749214 | BRCA2 | c.8077A>T (p.Ile2693Leu) c.7708A>T (p.Ile2570Leu) c.544A>T (p.Ile182Leu) c.8085A>T (n.8085A>T) c.642A>T c.7981A>T (p.Ile2661Leu) | dbSNP |