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.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.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.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.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) | 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) | 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 |
13 | g.32363280T>A | CA025441 | BRCA2 | c.8078T>A (p.Ile2693Lys) c.7709T>A (p.Ile2570Lys) c.545T>A (p.Ile182Lys) c.8086T>A (n.8086T>A) c.643T>A c.7982T>A (p.Ile2661Lys) | ClinVar dbSNP |
13 | g.32363280T>C | CA387749216 | BRCA2 | c.8078T>C (p.Ile2693Thr) c.7709T>C (p.Ile2570Thr) c.545T>C (p.Ile182Thr) c.8086T>C (n.8086T>C) c.643T>C c.7982T>C (p.Ile2661Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363280T>G | CA387749218 | BRCA2 | c.8078T>G (p.Ile2693Arg) c.7709T>G (p.Ile2570Arg) c.545T>G (p.Ile182Arg) c.8086T>G (n.8086T>G) c.643T>G c.7982T>G (p.Ile2661Arg) | |
13 | g.32363280T= | CA2082835144 | BRCA2 | c.8078T= (p.Ile2693=) c.7709T= (p.Ile2570=) c.545T= (p.Ile182=) c.8086T= (n.8086T=) c.643T= c.7982T= (p.Ile2661=) | |
13 | g.32363281A= | CA2082835150 | BRCA2 | c.8079A= (p.Ile2693=) c.7710A= (p.Ile2570=) c.546A= (p.Ile182=) c.8087A= (n.8087A=) c.644A= c.7983A= (p.Ile2661=) | |
13 | g.32363281A>C | CA483439571 | BRCA2 | c.8079A>C (p.Ile2693=) c.7710A>C (p.Ile2570=) c.546A>C (p.Ile182=) c.8087A>C (n.8087A>C) c.644A>C c.7983A>C (p.Ile2661=) | |
13 | g.32363281A>G | CA387749220 | BRCA2 | c.8079A>G (p.Ile2693Met) c.7710A>G (p.Ile2570Met) c.546A>G (p.Ile182Met) c.8087A>G (n.8087A>G) c.644A>G c.7983A>G (p.Ile2661Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32363281A>T | CA483439572 | BRCA2 | c.8079A>T (p.Ile2693=) c.7710A>T (p.Ile2570=) c.546A>T (p.Ile182=) c.8087A>T (n.8087A>T) c.644A>T c.7983A>T (p.Ile2661=) | dbSNP |
13 | g.32363282A>C | CA387749227 | BRCA2 | c.8080A>C (p.Ile2694Leu) c.7711A>C (p.Ile2571Leu) c.547A>C (p.Ile183Leu) c.8088A>C (n.8088A>C) c.645A>C c.7984A>C (p.Ile2662Leu) | |
13 | g.32363282A>G | CA387749222 | BRCA2 | c.8080A>G (p.Ile2694Val) c.7711A>G (p.Ile2571Val) c.547A>G (p.Ile183Val) c.8088A>G (n.8088A>G) c.645A>G c.7984A>G (p.Ile2662Val) | |
13 | g.32363282A>T | CA387749224 | BRCA2 | c.8080A>T (p.Ile2694Phe) c.7711A>T (p.Ile2571Phe) c.547A>T (p.Ile183Phe) c.8088A>T (n.8088A>T) c.645A>T c.7984A>T (p.Ile2662Phe) | dbSNP |
13 | g.32363283T>A | CA387749229 | BRCA2 | c.8081T>A (p.Ile2694Asn) c.7712T>A (p.Ile2571Asn) c.548T>A (p.Ile183Asn) c.8089T>A (n.8089T>A) c.646T>A c.7985T>A (p.Ile2662Asn) | dbSNP |
13 | g.32363283T>C | CA6941186 | BRCA2 | c.8081T>C (p.Ile2694Thr) c.7712T>C (p.Ile2571Thr) c.548T>C (p.Ile183Thr) c.8089T>C (n.8089T>C) c.646T>C c.7985T>C (p.Ile2662Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32363283T>G | CA387749231 | BRCA2 | c.8081T>G (p.Ile2694Ser) c.7712T>G (p.Ile2571Ser) c.548T>G (p.Ile183Ser) c.8089T>G (n.8089T>G) c.646T>G c.7985T>G (p.Ile2662Ser) | |
13 | g.32363283T= | CA2082835157 | BRCA2 | c.8081T= (p.Ile2694=) c.7712T= (p.Ile2571=) c.548T= (p.Ile183=) c.8089T= (n.8089T=) c.646T= c.7985T= (p.Ile2662=) | |
13 | g.32363284T>A | CA483439576 | BRCA2 | c.8082T>A (p.Ile2694=) c.7713T>A (p.Ile2571=) c.549T>A (p.Ile183=) c.8090T>A (n.8090T>A) c.647T>A c.7986T>A (p.Ile2662=) | dbSNP |
13 | g.32363284T>C | CA483439577 | BRCA2 | c.8082T>C (p.Ile2694=) c.7713T>C (p.Ile2571=) c.549T>C (p.Ile183=) c.8090T>C (n.8090T>C) c.647T>C c.7986T>C (p.Ile2662=) | |
13 | g.32363284T>G | CA387749234 | BRCA2 | c.8082T>G (p.Ile2694Met) c.7713T>G (p.Ile2571Met) c.549T>G (p.Ile183Met) c.8090T>G (n.8090T>G) c.647T>G c.7986T>G (p.Ile2662Met) | |
13 | g.32363285T>A | CA387749236 | BRCA2 | c.8083T>A (p.Ser2695Thr) c.7714T>A (p.Ser2572Thr) c.550T>A (p.Ser184Thr) c.8091T>A (n.8091T>A) c.648T>A c.7987T>A (p.Ser2663Thr) | dbSNP |
13 | g.32363285T>C | CA387749238 | BRCA2 | c.8083T>C (p.Ser2695Pro) c.7714T>C (p.Ser2572Pro) c.550T>C (p.Ser184Pro) c.8091T>C (n.8091T>C) c.648T>C c.7987T>C (p.Ser2663Pro) | |
13 | g.32363285T>G | CA387749240 | BRCA2 | c.8083T>G (p.Ser2695Ala) c.7714T>G (p.Ser2572Ala) c.550T>G (p.Ser184Ala) c.8091T>G (n.8091T>G) c.648T>G c.7987T>G (p.Ser2663Ala) | |
13 | g.32363286C>A | CA387749242 | BRCA2 | c.8084C>A (p.Ser2695Ter) c.7715C>A (p.Ser2572Ter) c.551C>A (p.Ser184Ter) c.8092C>A (n.8092C>A) c.649C>A c.7988C>A (p.Ser2663Ter) | dbSNP COSMIC COSMIC |
13 | g.32363286C= | CA2082835178 | BRCA2 | c.8084C= (p.Ser2695=) c.7715C= (p.Ser2572=) c.551C= (p.Ser184=) c.8092C= (n.8092C=) c.649C= c.7988C= (p.Ser2663=) | |
13 | g.32363286C>G | CA025443 | BRCA2 | c.8084C>G (p.Ser2695Ter) c.7715C>G (p.Ser2572Ter) c.551C>G (p.Ser184Ter) c.8092C>G (n.8092C>G) c.649C>G c.7988C>G (p.Ser2663Ter) | ClinVar dbSNP |
13 | g.32363286C>T | CA025444 | BRCA2 | c.8084C>T (p.Ser2695Leu) c.7715C>T (p.Ser2572Leu) c.551C>T (p.Ser184Leu) c.8092C>T (n.8092C>T) c.649C>T c.7988C>T (p.Ser2663Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363287A>C | CA483439579 | BRCA2 | c.8085A>C (p.Ser2695=) c.7716A>C (p.Ser2572=) c.552A>C (p.Ser184=) c.8093A>C (n.8093A>C) c.650A>C c.7989A>C (p.Ser2663=) | |
13 | g.32363287A>G | CA483439580 | BRCA2 | c.8085A>G (p.Ser2695=) c.7716A>G (p.Ser2572=) c.552A>G (p.Ser184=) c.8093A>G (n.8093A>G) c.650A>G c.7989A>G (p.Ser2663=) | ClinVar dbSNP |
13 | g.32363287A>T | CA483439581 | BRCA2 | c.8085A>T (p.Ser2695=) c.7716A>T (p.Ser2572=) c.552A>T (p.Ser184=) c.8093A>T (n.8093A>T) c.650A>T c.7989A>T (p.Ser2663=) | ClinVar dbSNP |
13 | g.32363287_32363288delinsAT | CA2082835183 | BRCA2 | c.8085_8086delinsAT (p.Ser2695=) c.7716_7717delinsAT (p.Ser2572=) c.552_553delinsAT (p.Ser184=) c.8093_8094delinsAT (n.8093_8094delinsAT) c.650_651delinsAT c.7989_7990delinsAT (p.Ser2663=) | |
13 | g.32363288T>A | CA387749250 | BRCA2 | c.8086T>A (p.Leu2696Met) c.7717T>A (p.Leu2573Met) c.553T>A (p.Leu185Met) c.8094T>A (n.8094T>A) c.651T>A c.7990T>A (p.Leu2664Met) | dbSNP |
13 | g.32363288T>C | CA025445 | BRCA2 | c.8086T>C (p.Leu2696=) c.7717T>C (p.Leu2573=) c.553T>C (p.Leu185=) c.8094T>C (n.8094T>C) c.651T>C c.7990T>C (p.Leu2664=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363288T>G | CA387749247 | BRCA2 | c.8086T>G (p.Leu2696Val) c.7717T>G (p.Leu2573Val) c.553T>G (p.Leu185Val) c.8094T>G (n.8094T>G) c.651T>G c.7990T>G (p.Leu2664Val) | ClinVar dbSNP |
13 | g.32363288T= | CA2082835194 | BRCA2 | c.8086T= (p.Leu2696=) c.7717T= (p.Leu2573=) c.553T= (p.Leu185=) c.8094T= (n.8094T=) c.651T= c.7990T= (p.Leu2664=) | |
13 | g.32363289del | CA025446 | BRCA2 | c.8087del (p.Leu2696Ter) c.7718del (p.Leu2573Ter) c.554del (p.Leu185Ter) c.8095del (n.8095del) c.652del c.7991del (p.Leu2664Ter) | ClinVar dbSNP |
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.32363289T>A | CA025447 | BRCA2 | c.8087T>A (p.Leu2696Ter) c.7718T>A (p.Leu2573Ter) c.554T>A (p.Leu185Ter) c.8095T>A (n.8095T>A) c.652T>A c.7991T>A (p.Leu2664Ter) | ClinVar dbSNP |
13 | g.32363289T>C | CA387749253 | BRCA2 | c.8087T>C (p.Leu2696Ser) c.7718T>C (p.Leu2573Ser) c.554T>C (p.Leu185Ser) c.8095T>C (n.8095T>C) c.652T>C c.7991T>C (p.Leu2664Ser) | ClinVar gnomAD v4 |
13 | g.32363289T>G | CA025448 | BRCA2 | c.8087T>G (p.Leu2696Trp) c.7718T>G (p.Leu2573Trp) c.554T>G (p.Leu185Trp) c.8095T>G (n.8095T>G) c.652T>G c.7991T>G (p.Leu2664Trp) | ClinVar dbSNP |
13 | g.32363289T= | CA2082835227 | BRCA2 | c.8087T= (p.Leu2696=) c.7718T= (p.Leu2573=) c.554T= (p.Leu185=) c.8095T= (n.8095T=) c.652T= c.7991T= (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.32363290G>A | CA483439585 | BRCA2 | c.8088G>A (p.Leu2696=) c.7719G>A (p.Leu2573=) c.555G>A (p.Leu185=) c.8096G>A (n.8096G>A) c.653G>A c.7992G>A (p.Leu2664=) | dbSNP |
13 | g.32363290G>C | CA387749255 | BRCA2 | c.8088G>C (p.Leu2696Phe) c.7719G>C (p.Leu2573Phe) c.555G>C (p.Leu185Phe) c.8096G>C (n.8096G>C) c.653G>C c.7992G>C (p.Leu2664Phe) | dbSNP |
13 | g.32363290G>T | CA387749257 | BRCA2 | c.8088G>T (p.Leu2696Phe) c.7719G>T (p.Leu2573Phe) c.555G>T (p.Leu185Phe) c.8096G>T (n.8096G>T) c.653G>T c.7992G>T (p.Leu2664Phe) | dbSNP |
13 | g.32363291A>C | CA387749259 | BRCA2 | c.8089A>C (p.Ser2697Arg) c.7720A>C (p.Ser2574Arg) c.556A>C (p.Ser186Arg) c.8097A>C (n.8097A>C) c.654A>C c.7993A>C (p.Ser2665Arg) | |
13 | g.32363291A>G | CA387749261 | BRCA2 | c.8089A>G (p.Ser2697Gly) c.7720A>G (p.Ser2574Gly) c.556A>G (p.Ser186Gly) c.8097A>G (n.8097A>G) c.654A>G c.7993A>G (p.Ser2665Gly) | dbSNP |
13 | g.32363291A>T | CA387749263 | BRCA2 | c.8089A>T (p.Ser2697Cys) c.7720A>T (p.Ser2574Cys) c.556A>T (p.Ser186Cys) c.8097A>T (n.8097A>T) c.654A>T c.7993A>T (p.Ser2665Cys) | dbSNP |
13 | g.32363292G>A | CA025449 | BRCA2 | c.8090G>A (p.Ser2697Asn) c.7721G>A (p.Ser2574Asn) c.557G>A (p.Ser186Asn) c.8098G>A (n.8098G>A) c.655G>A c.7994G>A (p.Ser2665Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363292G>C | CA387749265 | BRCA2 | c.8090G>C (p.Ser2697Thr) c.7721G>C (p.Ser2574Thr) c.557G>C (p.Ser186Thr) c.8098G>C (n.8098G>C) c.655G>C c.7994G>C (p.Ser2665Thr) | ClinVar dbSNP |
13 | g.32363292G= | CA2082835246 | BRCA2 | c.8090G= (p.Ser2697=) c.7721G= (p.Ser2574=) c.557G= (p.Ser186=) c.8098G= (n.8098G=) c.655G= c.7994G= (p.Ser2665=) | |
13 | g.32363292G>T | CA387749266 | BRCA2 | c.8090G>T (p.Ser2697Ile) c.7721G>T (p.Ser2574Ile) c.557G>T (p.Ser186Ile) c.8098G>T (n.8098G>T) c.655G>T c.7994G>T (p.Ser2665Ile) | ClinVar dbSNP |
13 | g.32363293C>A | CA387749268 | BRCA2 | c.8091C>A (p.Ser2697Arg) c.7722C>A (p.Ser2574Arg) c.558C>A (p.Ser186Arg) c.8099C>A (n.8099C>A) c.656C>A c.7995C>A (p.Ser2665Arg) | ClinVar dbSNP |
13 | g.32363293C= | CA2082835257 | BRCA2 | c.8091C= (p.Ser2697=) c.7722C= (p.Ser2574=) c.558C= (p.Ser186=) c.8099C= (n.8099C=) c.656C= c.7995C= (p.Ser2665=) | |
13 | g.32363293C>G | CA387749267 | BRCA2 | c.8091C>G (p.Ser2697Arg) c.7722C>G (p.Ser2574Arg) c.558C>G (p.Ser186Arg) c.8099C>G (n.8099C>G) c.656C>G c.7995C>G (p.Ser2665Arg) | dbSNP |
13 | g.32363293C>T | CA025450 | BRCA2 | c.8091C>T (p.Ser2697=) c.7722C>T (p.Ser2574=) c.558C>T (p.Ser186=) c.8099C>T (n.8099C>T) c.656C>T c.7995C>T (p.Ser2665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363294G>A | CA025451 | BRCA2 | c.8092G>A (p.Ala2698Thr) c.7723G>A (p.Ala2575Thr) c.559G>A (p.Ala187Thr) c.8100G>A (n.8100G>A) c.657G>A c.7996G>A (p.Ala2666Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32363294G>C | CA387749270 | BRCA2 | c.8092G>C (p.Ala2698Pro) c.7723G>C (p.Ala2575Pro) c.559G>C (p.Ala187Pro) c.8100G>C (n.8100G>C) c.657G>C c.7996G>C (p.Ala2666Pro) | dbSNP |
13 | g.32363294G= | CA2082835263 | BRCA2 | c.8092G= (p.Ala2698=) c.7723G= (p.Ala2575=) c.559G= (p.Ala187=) c.8100G= (n.8100G=) c.657G= c.7996G= (p.Ala2666=) | |
13 | g.32363294G>T | CA387749272 | BRCA2 | c.8092G>T (p.Ala2698Ser) c.7723G>T (p.Ala2575Ser) c.559G>T (p.Ala187Ser) c.8100G>T (n.8100G>T) c.657G>T c.7996G>T (p.Ala2666Ser) | dbSNP |
13 | g.32363295C>A | CA387749273 | BRCA2 | c.8093C>A (p.Ala2698Glu) c.7724C>A (p.Ala2575Glu) c.560C>A (p.Ala187Glu) c.8101C>A (n.8101C>A) c.658C>A c.7997C>A (p.Ala2666Glu) | dbSNP |
13 | g.32363295C= | CA2082835269 | BRCA2 | c.8093C= (p.Ala2698=) c.7724C= (p.Ala2575=) c.560C= (p.Ala187=) c.8101C= (n.8101C=) c.658C= c.7997C= (p.Ala2666=) | |
13 | g.32363295C>G | CA387749275 | BRCA2 | c.8093C>G (p.Ala2698Gly) c.7724C>G (p.Ala2575Gly) c.560C>G (p.Ala187Gly) c.8101C>G (n.8101C>G) c.658C>G c.7997C>G (p.Ala2666Gly) | ClinVar dbSNP |
13 | g.32363295C>T | CA387749278 | BRCA2 | c.8093C>T (p.Ala2698Val) c.7724C>T (p.Ala2575Val) c.560C>T (p.Ala187Val) c.8101C>T (n.8101C>T) c.658C>T c.7997C>T (p.Ala2666Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32363296A>C | CA483439590 | BRCA2 | c.8094A>C (p.Ala2698=) c.7725A>C (p.Ala2575=) c.561A>C (p.Ala187=) c.8102A>C (n.8102A>C) c.659A>C c.7998A>C (p.Ala2666=) | |
13 | g.32363296A>G | CA483439591 | BRCA2 | c.8094A>G (p.Ala2698=) c.7725A>G (p.Ala2575=) c.561A>G (p.Ala187=) c.8102A>G (n.8102A>G) c.659A>G c.7998A>G (p.Ala2666=) | dbSNP |
13 | g.32363296A>T | CA483439592 | BRCA2 | c.8094A>T (p.Ala2698=) c.7725A>T (p.Ala2575=) c.561A>T (p.Ala187=) c.8102A>T (n.8102A>T) c.659A>T c.7998A>T (p.Ala2666=) | |
13 | g.32363298del | CA2739277541 | BRCA2 | c.8096del (p.Asn2699IlefsTer?) c.7727del (p.Asn2576IlefsTer?) c.563del (p.Asn188IlefsTer?) c.8104del (n.8104del) c.661del c.8000del (p.Asn2667IlefsTer?) | ClinVar |
13 | g.32363297A>C | CA387749279 | BRCA2 | c.8095A>C (p.Asn2699His) c.7726A>C (p.Asn2576His) c.562A>C (p.Asn188His) c.8103A>C (n.8103A>C) c.660A>C c.7999A>C (p.Asn2667His) | |
13 | g.32363297A>G | CA387749280 | BRCA2 | c.8095A>G (p.Asn2699Asp) c.7726A>G (p.Asn2576Asp) c.562A>G (p.Asn188Asp) c.8103A>G (n.8103A>G) c.660A>G c.7999A>G (p.Asn2667Asp) | |
13 | g.32363297A>T | CA387749286 | BRCA2 | c.8095A>T (p.Asn2699Tyr) c.7726A>T (p.Asn2576Tyr) c.562A>T (p.Asn188Tyr) c.8103A>T (n.8103A>T) c.660A>T c.7999A>T (p.Asn2667Tyr) | dbSNP |
13 | g.32363298A= | CA2082835273 | BRCA2 | c.8096A= (p.Asn2699=) c.7727A= (p.Asn2576=) c.563A= (p.Asn188=) c.8104A= (n.8104A=) c.661A= c.8000A= (p.Asn2667=) | |
13 | g.32363298A>C | CA387749288 | BRCA2 | c.8096A>C (p.Asn2699Thr) c.7727A>C (p.Asn2576Thr) c.563A>C (p.Asn188Thr) c.8104A>C (n.8104A>C) c.661A>C c.8000A>C (p.Asn2667Thr) | |
13 | g.32363298A>G | CA387749290 | BRCA2 | c.8096A>G (p.Asn2699Ser) c.7727A>G (p.Asn2576Ser) c.563A>G (p.Asn188Ser) c.8104A>G (n.8104A>G) c.661A>G c.8000A>G (p.Asn2667Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32363298A>T | CA387749292 | BRCA2 | c.8096A>T (p.Asn2699Ile) c.7727A>T (p.Asn2576Ile) c.563A>T (p.Asn188Ile) c.8104A>T (n.8104A>T) c.661A>T c.8000A>T (p.Asn2667Ile) | dbSNP |
13 | g.32363299T>A | CA387749294 | BRCA2 | c.8097T>A (p.Asn2699Lys) c.7728T>A (p.Asn2576Lys) c.564T>A (p.Asn188Lys) c.8105T>A (n.8105T>A) c.662T>A c.8001T>A (p.Asn2667Lys) | dbSNP COSMIC COSMIC |
13 | g.32363299T>C | CA16607486 | BRCA2 | c.8097T>C (p.Asn2699=) c.7728T>C (p.Asn2576=) c.564T>C (p.Asn188=) c.8105T>C (n.8105T>C) c.662T>C c.8001T>C (p.Asn2667=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32363299T>G | CA387749297 | BRCA2 | c.8097T>G (p.Asn2699Lys) c.7728T>G (p.Asn2576Lys) c.564T>G (p.Asn188Lys) c.8105T>G (n.8105T>G) c.662T>G c.8001T>G (p.Asn2667Lys) | ClinVar dbSNP |
13 | g.32363299T= | CA2082835278 | BRCA2 | c.8097T= (p.Asn2699=) c.7728T= (p.Asn2576=) c.564T= (p.Asn188=) c.8105T= (n.8105T=) c.662T= c.8001T= (p.Asn2667=) | |
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) |