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.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.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.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.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.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=) |