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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32337239_32337498delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | CA2082812358 | BRCA2 | c.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His962=) c.2515_2774delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His839=) n.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | |
| 13 | g.32337240_32337469delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | CA2082812369 | BRCA2 | c.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His962=) c.2516_2745delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His839=) n.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | |
| 13 | g.32337241_32337499del | CA1139663129 | BRCA2 | c.2886_3144del (p.His962GlnfsTer6) c.2517_2775del (p.His839GlnfsTer6) n.2886_3144del | ClinVar dbSNP |
| 13 | g.32337241_32337469del | CA1139663130 | BRCA2 | c.2886_3114del (p.Ile963LeufsTer4) c.2517_2745del (p.Ile840LeufsTer4) n.2886_3114del | ClinVar dbSNP |
| 13 | g.32337257_32337266del | CA2582341843 | BRCA2 | c.2902_2911del (p.Gly968Ter) c.2533_2542del (p.Gly845Ter) n.2902_2911del | ClinVar |
| 13 | g.32337265T>A | CA387774188 | BRCA2 | c.2910T>A (p.Asp970Glu) c.2541T>A (p.Asp847Glu) n.2910T>A | dbSNP |
| 13 | g.32337265T>C | CA483437194 | BRCA2 | c.2910T>C (p.Asp970=) c.2541T>C (p.Asp847=) n.2910T>C | dbSNP |
| 13 | g.32337265T>G | CA387774189 | BRCA2 | c.2910T>G (p.Asp970Glu) c.2541T>G (p.Asp847Glu) n.2910T>G | dbSNP |
| 13 | g.32337266T>A | CA387774190 | BRCA2 | c.2911T>A (p.Leu971Ile) c.2542T>A (p.Leu848Ile) n.2911T>A | ClinVar dbSNP |
| 13 | g.32337266T>C | CA483437196 | BRCA2 | c.2911T>C (p.Leu971=) c.2542T>C (p.Leu848=) n.2911T>C | dbSNP |
| 13 | g.32337266T>G | CA387774191 | BRCA2 | c.2911T>G (p.Leu971Val) c.2542T>G (p.Leu848Val) n.2911T>G | ClinVar |
| 13 | g.32337266T= | CA2082812668 | BRCA2 | c.2911T= (p.Leu971=) c.2542T= (p.Leu848=) n.2911T= | |
| 13 | g.32337267T>A | CA387774192 | BRCA2 | c.2912T>A (p.Leu971Ter) c.2543T>A (p.Leu848Ter) n.2912T>A | |
| 13 | g.32337267T>C | CA387774193 | BRCA2 | c.2912T>C (p.Leu971Ser) c.2543T>C (p.Leu848Ser) n.2912T>C | |
| 13 | g.32337267T>G | CA016757 | BRCA2 | c.2912T>G (p.Leu971Ter) c.2543T>G (p.Leu848Ter) n.2912T>G | ClinVar dbSNP |
| 13 | g.32337267T= | CA2082812674 | BRCA2 | c.2912T= (p.Leu971=) c.2543T= (p.Leu848=) n.2912T= | |
| 13 | g.32337268A= | CA2082812679 | BRCA2 | c.2913A= (p.Leu971=) c.2544A= (p.Leu848=) n.2913A= | |
| 13 | g.32337268A>C | CA387774194 | BRCA2 | c.2913A>C (p.Leu971Phe) c.2544A>C (p.Leu848Phe) n.2913A>C | |
| 13 | g.32337268A>G | CA483437197 | BRCA2 | c.2913A>G (p.Leu971=) c.2544A>G (p.Leu848=) n.2913A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337268A>T | CA387774195 | BRCA2 | c.2913A>T (p.Leu971Phe) c.2544A>T (p.Leu848Phe) n.2913A>T | dbSNP |
| 13 | g.32337269A>C | CA387774196 | BRCA2 | c.2914A>C (p.Lys972Gln) c.2545A>C (p.Lys849Gln) n.2914A>C | |
| 13 | g.32337269A>G | CA387774197 | BRCA2 | c.2914A>G (p.Lys972Glu) c.2545A>G (p.Lys849Glu) n.2914A>G | dbSNP |
| 13 | g.32337269A>T | CA387774198 | BRCA2 | c.2914A>T (p.Lys972Ter) c.2545A>T (p.Lys849Ter) n.2914A>T | dbSNP |
| 13 | g.32337270A= | CA2082812686 | BRCA2 | c.2915A= (p.Lys972=) c.2546A= (p.Lys849=) n.2915A= | |
| 13 | g.32337270A>C | CA387774199 | BRCA2 | c.2915A>C (p.Lys972Thr) c.2546A>C (p.Lys849Thr) n.2915A>C | |
| 13 | g.32337270A>G | CA16619678 | BRCA2 | c.2915A>G (p.Lys972Arg) c.2546A>G (p.Lys849Arg) n.2915A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337270A>T | CA387774200 | BRCA2 | c.2915A>T (p.Lys972Ile) c.2546A>T (p.Lys849Ile) n.2915A>T | dbSNP |
| 13 | g.32337271A= | CA2082812693 | BRCA2 | c.2916A= (p.Lys972=) c.2547A= (p.Lys849=) n.2916A= | |
| 13 | g.32337271A>C | CA387774201 | BRCA2 | c.2916A>C (p.Lys972Asn) c.2547A>C (p.Lys849Asn) n.2916A>C | ClinVar dbSNP |
| 13 | g.32337271A>G | CA483437199 | BRCA2 | c.2916A>G (p.Lys972=) c.2547A>G (p.Lys849=) n.2916A>G | |
| 13 | g.32337271A>T | CA387774202 | BRCA2 | c.2916A>T (p.Lys972Asn) c.2547A>T (p.Lys849Asn) n.2916A>T | |
| 13 | g.32337272T>A | CA387774203 | BRCA2 | c.2917T>A (p.Ser973Thr) c.2548T>A (p.Ser850Thr) n.2917T>A | dbSNP |
| 13 | g.32337272T>C | CA387774204 | BRCA2 | c.2917T>C (p.Ser973Pro) c.2548T>C (p.Ser850Pro) n.2917T>C | dbSNP |
| 13 | g.32337272T>G | CA387774205 | BRCA2 | c.2917T>G (p.Ser973Ala) c.2548T>G (p.Ser850Ala) n.2917T>G | dbSNP |
| 13 | g.32337273C>A | CA016767 | BRCA2 | c.2918C>A (p.Ser973Ter) c.2549C>A (p.Ser850Ter) n.2918C>A | ClinVar dbSNP |
| 13 | g.32337273C= | CA2082812708 | BRCA2 | c.2918C= (p.Ser973=) c.2549C= (p.Ser850=) n.2918C= | |
| 13 | g.32337273C>G | CA387774206 | BRCA2 | c.2918C>G (p.Ser973Trp) c.2549C>G (p.Ser850Trp) n.2918C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337273C>T | CA016775 | BRCA2 | c.2918C>T (p.Ser973Leu) c.2549C>T (p.Ser850Leu) n.2918C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337273_32337274delinsCG | CA2082812711 | BRCA2 | c.2918_2919delinsCG (p.Ser973=) c.2549_2550delinsCG (p.Ser850=) n.2918_2919delinsCG | |
| 13 | g.32337274G>A | CA016784 | BRCA2 | c.2919G>A (p.Ser973=) c.2550G>A (p.Ser850=) n.2919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337274G>C | CA483437203 | BRCA2 | c.2919G>C (p.Ser973=) c.2550G>C (p.Ser850=) n.2919G>C | dbSNP |
| 13 | g.32337274G= | CA2082812731 | BRCA2 | c.2919G= (p.Ser973=) c.2550G= (p.Ser850=) n.2919G= | |
| 13 | g.32337274G>T | CA483437202 | BRCA2 | c.2919G>T (p.Ser973=) c.2550G>T (p.Ser850=) n.2919G>T | ClinVar dbSNP |
| 13 | g.32337275del | CA919242626 | BRCA2 | c.2920del (p.Asp974ThrfsTer4) c.2551del (p.Asp851ThrfsTer4) n.2920del | dbSNP |
| 13 | g.32337275G>A | CA016790 | BRCA2 | c.2920G>A (p.Asp974Asn) c.2551G>A (p.Asp851Asn) n.2920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337275G>C | CA387774207 | BRCA2 | c.2920G>C (p.Asp974His) c.2551G>C (p.Asp851His) n.2920G>C | ClinVar dbSNP |
| 13 | g.32337275G= | CA2082812750 | BRCA2 | c.2920G= (p.Asp974=) c.2551G= (p.Asp851=) n.2920G= | |
| 13 | g.32337275G>T | CA6940640 | BRCA2 | c.2920G>T (p.Asp974Tyr) c.2551G>T (p.Asp851Tyr) n.2920G>T | dbSNP ExAC gnomAD v2 |
| 13 | g.32337275_32337277dup | CA2622601029 | BRCA2 | c.2920_2922dup (p.Asp974_Ile975insAsp) c.2551_2553dup (p.Asp851_Ile852insAsp) n.2920_2922dup | gnomAD v4 |
| 13 | g.32337276A>C | CA387774208 | BRCA2 | c.2921A>C (p.Asp974Ala) c.2552A>C (p.Asp851Ala) n.2921A>C | dbSNP |
| 13 | g.32337276A>G | CA387774209 | BRCA2 | c.2921A>G (p.Asp974Gly) c.2552A>G (p.Asp851Gly) n.2921A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32337276A>T | CA387774210 | BRCA2 | c.2921A>T (p.Asp974Val) c.2552A>T (p.Asp851Val) n.2921A>T | dbSNP |
| 13 | g.32337277C>A | CA387774211 | BRCA2 | c.2922C>A (p.Asp974Glu) c.2553C>A (p.Asp851Glu) n.2922C>A | ClinVar dbSNP |
| 13 | g.32337277C= | CA2082812768 | BRCA2 | c.2922C= (p.Asp974=) c.2553C= (p.Asp851=) n.2922C= | |
| 13 | g.32337277C>G | CA247503315 | BRCA2 | c.2922C>G (p.Asp974Glu) c.2553C>G (p.Asp851Glu) n.2922C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337277C>T | CA483437208 | BRCA2 | c.2922C>T (p.Asp974=) c.2553C>T (p.Asp851=) n.2922C>T | dbSNP |
| 13 | g.32337278A= | CA2082812794 | BRCA2 | c.2923A= (p.Ile975=) c.2554A= (p.Ile852=) n.2923A= | |
| 13 | g.32337278A>C | CA387774212 | BRCA2 | c.2923A>C (p.Ile975Leu) c.2554A>C (p.Ile852Leu) n.2923A>C | |
| 13 | g.32337278A>G | CA387774213 | BRCA2 | c.2923A>G (p.Ile975Val) c.2554A>G (p.Ile852Val) n.2923A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337278A>T | CA6940641 | BRCA2 | c.2923A>T (p.Ile975Phe) c.2554A>T (p.Ile852Phe) n.2923A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337278_32337279delinsGA | CA2740097653 | BRCA2 | c.2923_2924delinsGA (p.Ile975Asp) c.2554_2555delinsGA (p.Ile852Asp) n.2923_2924delinsGA | ClinVar |
| 13 | g.32337278_32337280delinsATC | CA2082812788 | BRCA2 | c.2923_2925delinsATC (p.Ile975=) c.2554_2556delinsATC (p.Ile852=) n.2923_2925delinsATC | |
| 13 | g.32337278_32337282delinsATCTC | CA2082812791 | BRCA2 | c.2923_2927delinsATCTC (p.Ile975=) c.2554_2558delinsATCTC (p.Ile852=) n.2923_2927delinsATCTC | |
| 13 | g.32337278_32337282delinsGACAT | CA891844448 | BRCA2 | c.2923_2927delinsGACAT (p.Ile975_Ser976delinsAspIle) c.2554_2558delinsGACAT (p.Ile852_Ser853delinsAspIle) n.2923_2927delinsGACAT | ClinVar dbSNP |
| 13 | g.32337279T>A | CA16613864 | BRCA2 | c.2924T>A (p.Ile975Asn) c.2555T>A (p.Ile852Asn) n.2924T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337279T>C | CA10577466 | BRCA2 | c.2924T>C (p.Ile975Thr) c.2555T>C (p.Ile852Thr) n.2924T>C | ClinVar dbSNP |
| 13 | g.32337279T>G | CA016800 | BRCA2 | c.2924T>G (p.Ile975Ser) c.2555T>G (p.Ile852Ser) n.2924T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337279T= | CA2082812816 | BRCA2 | c.2924T= (p.Ile975=) c.2555T= (p.Ile852=) n.2924T= | |
| 13 | g.32337279_32337282delinsTCTC | CA2082812821 | BRCA2 | c.2924_2927delinsTCTC (p.Ile975=) c.2555_2558delinsTCTC (p.Ile852=) n.2924_2927delinsTCTC | |
| 13 | g.32337281_32337282del | CA915948444 | BRCA2 | c.2926_2927del (p.Ser976LeufsTer5) c.2557_2558del (p.Ser853LeufsTer5) n.2926_2927del | ClinVar dbSNP |
| 13 | g.32337280C>A | CA483437213 | BRCA2 | c.2925C>A (p.Ile975=) c.2556C>A (p.Ile852=) n.2925C>A | ClinVar dbSNP |
| 13 | g.32337280C= | CA2082812839 | BRCA2 | c.2925C= (p.Ile975=) c.2556C= (p.Ile852=) n.2925C= | |
| 13 | g.32337280C>G | CA387774214 | BRCA2 | c.2925C>G (p.Ile975Met) c.2556C>G (p.Ile852Met) n.2925C>G | ClinVar dbSNP |
| 13 | g.32337280C>T | CA483437214 | BRCA2 | c.2925C>T (p.Ile975=) c.2556C>T (p.Ile852=) n.2925C>T | dbSNP gnomAD v4 |
| 13 | g.32337280_32337281delinsCT | CA2082812835 | BRCA2 | c.2925_2926delinsCT (p.Ile975=) c.2556_2557delinsCT (p.Ile852=) n.2925_2926delinsCT | |
| 13 | g.32337282_32337284del | CA016811 | BRCA2 | c.2927_2929del (p.Ser976del) c.2558_2560del (p.Ser853del) n.2927_2929del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337281del | CA609453774 | BRCA2 | c.2926del (p.Ser976ProfsTer2) c.2557del (p.Ser853ProfsTer2) n.2926del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337281T>A | CA6940642 | BRCA2 | c.2926T>A (p.Ser976Thr) c.2557T>A (p.Ser853Thr) n.2926T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337281T>C | CA387774218 | BRCA2 | c.2926T>C (p.Ser976Pro) c.2557T>C (p.Ser853Pro) n.2926T>C | dbSNP |
| 13 | g.32337281T>G | CA387774221 | BRCA2 | c.2926T>G (p.Ser976Ala) c.2557T>G (p.Ser853Ala) n.2926T>G | |
| 13 | g.32337281T= | CA2082812853 | BRCA2 | c.2926T= (p.Ser976=) c.2557T= (p.Ser853=) n.2926T= | |
| 13 | g.32337281_32337282delinsAT | CA016802 | BRCA2 | c.2926_2927delinsAT (p.Ser976Ile) c.2557_2558delinsAT (p.Ser853Ile) n.2926_2927delinsAT | ClinVar dbSNP |
| 13 | g.32337281_32337282delinsTC | CA2082812852 | BRCA2 | c.2926_2927delinsTC (p.Ser976=) c.2557_2558delinsTC (p.Ser853=) n.2926_2927delinsTC | |
| 13 | g.32337282C>A | CA387774224 | BRCA2 | c.2927C>A (p.Ser976Tyr) c.2558C>A (p.Ser853Tyr) n.2927C>A | dbSNP |
| 13 | g.32337282C= | CA2082812861 | BRCA2 | c.2927C= (p.Ser976=) c.2558C= (p.Ser853=) n.2927C= | |
| 13 | g.32337282C>G | CA387774226 | BRCA2 | c.2927C>G (p.Ser976Cys) c.2558C>G (p.Ser853Cys) n.2927C>G | dbSNP |
| 13 | g.32337282C>T | CA6940643 | BRCA2 | c.2927C>T (p.Ser976Phe) c.2558C>T (p.Ser853Phe) n.2927C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337282_32337283delinsTT | CA645573221 | BRCA2 | c.2927_2928delinsTT (p.Ser976Phe) c.2558_2559delinsTT (p.Ser853Phe) n.2927_2928delinsTT | COSMIC COSMIC |
| 13 | g.32337283del | CA2499222121 | BRCA2 | c.2928del (p.Leu977Ter) c.2559del (p.Leu854Ter) n.2928del | |
| 13 | g.32337283C>A | CA483437218 | BRCA2 | c.2928C>A (p.Ser976=) c.2559C>A (p.Ser853=) n.2928C>A | dbSNP |
| 13 | g.32337283C= | CA2082812866 | BRCA2 | c.2928C= (p.Ser976=) c.2559C= (p.Ser853=) n.2928C= | |
| 13 | g.32337283C>G | CA483437219 | BRCA2 | c.2928C>G (p.Ser976=) c.2559C>G (p.Ser853=) n.2928C>G | |
| 13 | g.32337283C>T | CA483437217 | BRCA2 | c.2928C>T (p.Ser976=) c.2559C>T (p.Ser853=) n.2928C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337283_32337294delinsCTTGAATATAGA | CA2082812865 | BRCA2 | c.2928_2939delinsCTTGAATATAGA (p.Ser976=) c.2559_2570delinsCTTGAATATAGA (p.Ser853=) n.2928_2939delinsCTTGAATATAGA | |
| 13 | g.32337283_32337296delinsG | CA2580087307 | BRCA2 | c.2928_2941delinsG (p.Leu977LysfsTer10) c.2559_2572delinsG (p.Leu854LysfsTer10) n.2928_2941delinsG | ClinVar |
| 13 | g.32337284T>A | CA387774233 | BRCA2 | c.2929T>A (p.Leu977Met) c.2560T>A (p.Leu854Met) n.2929T>A | dbSNP |
| 13 | g.32337284T>C | CA10579555 | BRCA2 | c.2929T>C (p.Leu977=) c.2560T>C (p.Leu854=) n.2929T>C | ClinVar dbSNP |
| 13 | g.32337284T>G | CA387774236 | BRCA2 | c.2929T>G (p.Leu977Val) c.2560T>G (p.Leu854Val) n.2929T>G | |
| 13 | g.32337284T= | CA2082812880 | BRCA2 | c.2929T= (p.Leu977=) c.2560T= (p.Leu854=) n.2929T= | |
| 13 | g.32337285_32337295del | CA016825 | BRCA2 | c.2930_2940del (p.Leu977Ter) c.2561_2571del (p.Leu854Ter) n.2930_2940del | ClinVar dbSNP |
| 13 | g.32337285T>A | CA387774239 | BRCA2 | c.2930T>A (p.Leu977Ter) c.2561T>A (p.Leu854Ter) n.2930T>A | dbSNP |
| 13 | g.32337285T>C | CA387774240 | BRCA2 | c.2930T>C (p.Leu977Ser) c.2561T>C (p.Leu854Ser) n.2930T>C | dbSNP |
| 13 | g.32337285T>G | CA387774241 | BRCA2 | c.2930T>G (p.Leu977Trp) c.2561T>G (p.Leu854Trp) n.2930T>G | |
| 13 | g.32337286G>A | CA483437224 | BRCA2 | c.2931G>A (p.Leu977=) c.2562G>A (p.Leu854=) n.2931G>A | dbSNP gnomAD v4 |
| 13 | g.32337286G>C | CA6940644 | BRCA2 | c.2931G>C (p.Leu977Phe) c.2562G>C (p.Leu854Phe) n.2931G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337286G= | CA2082812900 | BRCA2 | c.2931G= (p.Leu977=) c.2562G= (p.Leu854=) n.2931G= | |
| 13 | g.32337286G>T | CA387774244 | BRCA2 | c.2931G>T (p.Leu977Phe) c.2562G>T (p.Leu854Phe) n.2931G>T | dbSNP |
| 13 | g.32337286_32337287delinsT | CA2695199256 | BRCA2 | c.2931_2932delinsT (p.Leu977PhefsTer3) c.2562_2563delinsT (p.Leu854PhefsTer3) n.2931_2932delinsT | ClinVar |
| 13 | g.32337287A>C | CA387774247 | BRCA2 | c.2932A>C (p.Asn978His) c.2563A>C (p.Asn855His) n.2932A>C | |
| 13 | g.32337287A>G | CA387774251 | BRCA2 | c.2932A>G (p.Asn978Asp) c.2563A>G (p.Asn855Asp) n.2932A>G | dbSNP |
| 13 | g.32337287A>T | CA387774253 | BRCA2 | c.2932A>T (p.Asn978Tyr) c.2563A>T (p.Asn855Tyr) n.2932A>T | dbSNP |
| 13 | g.32337288A= | CA2082812907 | BRCA2 | c.2933A= (p.Asn978=) c.2564A= (p.Asn855=) n.2933A= | |
| 13 | g.32337288A>C | CA387774255 | BRCA2 | c.2933A>C (p.Asn978Thr) c.2564A>C (p.Asn855Thr) n.2933A>C | ClinVar dbSNP |
| 13 | g.32337288A>G | CA6940645 | BRCA2 | c.2933A>G (p.Asn978Ser) c.2564A>G (p.Asn855Ser) n.2933A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337288A>T | CA387774258 | BRCA2 | c.2933A>T (p.Asn978Ile) c.2564A>T (p.Asn855Ile) n.2933A>T | dbSNP |
| 13 | g.32337289T>A | CA387774260 | BRCA2 | c.2934T>A (p.Asn978Lys) c.2565T>A (p.Asn855Lys) n.2934T>A | dbSNP |
| 13 | g.32337289T>C | CA16606668 | BRCA2 | c.2934T>C (p.Asn978=) c.2565T>C (p.Asn855=) n.2934T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337289T>G | CA387774263 | BRCA2 | c.2934T>G (p.Asn978Lys) c.2565T>G (p.Asn855Lys) n.2934T>G | dbSNP |
| 13 | g.32337289T= | CA2082812916 | BRCA2 | c.2934T= (p.Asn978=) c.2565T= (p.Asn855=) n.2934T= | |
| 13 | g.32337290A= | CA2082812923 | BRCA2 | c.2935A= (p.Ile979=) c.2566A= (p.Ile856=) n.2935A= | |
| 13 | g.32337290A>C | CA387774267 | BRCA2 | c.2935A>C (p.Ile979Leu) c.2566A>C (p.Ile856Leu) n.2935A>C | |
| 13 | g.32337290A>G | CA387774269 | BRCA2 | c.2935A>G (p.Ile979Val) c.2566A>G (p.Ile856Val) n.2935A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337290A>T | CA387774275 | BRCA2 | c.2935A>T (p.Ile979Leu) c.2566A>T (p.Ile856Leu) n.2935A>T | dbSNP |
| 13 | g.32337291T>A | CA387774278 | BRCA2 | c.2936T>A (p.Ile979Lys) c.2567T>A (p.Ile856Lys) n.2936T>A | |
| 13 | g.32337291T>C | CA10579556 | BRCA2 | c.2936T>C (p.Ile979Thr) c.2567T>C (p.Ile856Thr) n.2936T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337291T>G | CA387774276 | BRCA2 | c.2936T>G (p.Ile979Arg) c.2567T>G (p.Ile856Arg) n.2936T>G | |
| 13 | g.32337291T= | CA2082812932 | BRCA2 | c.2936T= (p.Ile979=) c.2567T= (p.Ile856=) n.2936T= | |
| 13 | g.32337292del | CA2499222122 | BRCA2 | c.2937del (p.Ile979MetfsTer12) c.2568del (p.Ile856MetfsTer12) n.2937del | |
| 13 | g.32337292A= | CA2082812944 | BRCA2 | c.2937A= (p.Ile979=) c.2568A= (p.Ile856=) n.2937A= | |
| 13 | g.32337292A>C | CA483437229 | BRCA2 | c.2937A>C (p.Ile979=) c.2568A>C (p.Ile856=) n.2937A>C | ClinVar |
| 13 | g.32337292A>G | CA016830 | BRCA2 | c.2937A>G (p.Ile979Met) c.2568A>G (p.Ile856Met) n.2937A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337292A>T | CA483437230 | BRCA2 | c.2937A>T (p.Ile979=) c.2568A>T (p.Ile856=) n.2937A>T | dbSNP COSMIC COSMIC |
| 13 | g.32337293G>A | CA387774283 | BRCA2 | c.2938G>A (p.Asp980Asn) c.2569G>A (p.Asp857Asn) n.2938G>A | dbSNP |
| 13 | g.32337293G>C | CA387774286 | BRCA2 | c.2938G>C (p.Asp980His) c.2569G>C (p.Asp857His) n.2938G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337293G= | CA2082812958 | BRCA2 | c.2938G= (p.Asp980=) c.2569G= (p.Asp857=) n.2938G= | |
| 13 | g.32337293G>T | CA016836 | BRCA2 | c.2938G>T (p.Asp980Tyr) c.2569G>T (p.Asp857Tyr) n.2938G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337294A= | CA2082812965 | BRCA2 | c.2939A= (p.Asp980=) c.2570A= (p.Asp857=) n.2939A= | |
| 13 | g.32337294A>C | CA387774291 | BRCA2 | c.2939A>C (p.Asp980Ala) c.2570A>C (p.Asp857Ala) n.2939A>C | |
| 13 | g.32337294A>G | CA387774296 | BRCA2 | c.2939A>G (p.Asp980Gly) c.2570A>G (p.Asp857Gly) n.2939A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337294A>T | CA387774299 | BRCA2 | c.2939A>T (p.Asp980Val) c.2570A>T (p.Asp857Val) n.2939A>T | dbSNP |
| 13 | g.32337295T>A | CA387774302 | BRCA2 | c.2940T>A (p.Asp980Glu) c.2571T>A (p.Asp857Glu) n.2940T>A | dbSNP gnomAD v4 |
| 13 | g.32337295T>C | CA483437232 | BRCA2 | c.2940T>C (p.Asp980=) c.2571T>C (p.Asp857=) n.2940T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337295T>G | CA387774310 | BRCA2 | c.2940T>G (p.Asp980Glu) c.2571T>G (p.Asp857Glu) n.2940T>G | |
| 13 | g.32337295T= | CA2082812972 | BRCA2 | c.2940T= (p.Asp980=) c.2571T= (p.Asp857=) n.2940T= | |
| 13 | g.32337296A= | CA2082812990 | BRCA2 | c.2941A= (p.Lys981=) c.2572A= (p.Lys858=) n.2941A= | |
| 13 | g.32337296A>C | CA387774312 | BRCA2 | c.2941A>C (p.Lys981Gln) c.2572A>C (p.Lys858Gln) n.2941A>C | dbSNP |
| 13 | g.32337296A>G | CA387774314 | BRCA2 | c.2941A>G (p.Lys981Glu) c.2572A>G (p.Lys858Glu) n.2941A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337296A>T | CA387774317 | BRCA2 | c.2941A>T (p.Lys981Ter) c.2572A>T (p.Lys858Ter) n.2941A>T | |
| 13 | g.32337299dup | CA913188641 | BRCA2 | c.2944dup (p.Ile982AsnfsTer6) c.2575dup (p.Ile859AsnfsTer6) n.2944dup | ClinVar dbSNP |
| 13 | g.32337299del | CA658761183 | BRCA2 | c.2944del (p.Ile982TyrfsTer9) c.2575del (p.Ile859TyrfsTer9) n.2944del | dbSNP |
| 13 | g.32337297A= | CA2082813000 | BRCA2 | c.2942A= (p.Lys981=) c.2573A= (p.Lys858=) n.2942A= | |
| 13 | g.32337297A>C | CA387774324 | BRCA2 | c.2942A>C (p.Lys981Thr) c.2573A>C (p.Lys858Thr) n.2942A>C | ClinVar dbSNP |
| 13 | g.32337297A>G | CA016842 | BRCA2 | c.2942A>G (p.Lys981Arg) c.2573A>G (p.Lys858Arg) n.2942A>G | ClinVar dbSNP |
| 13 | g.32337297A>T | CA387774321 | BRCA2 | c.2942A>T (p.Lys981Ile) c.2573A>T (p.Lys858Ile) n.2942A>T | dbSNP |
| 13 | g.32337298A= | CA2082813008 | BRCA2 | c.2943A= (p.Lys981=) c.2574A= (p.Lys858=) n.2943A= | |
| 13 | g.32337298A>C | CA387774327 | BRCA2 | c.2943A>C (p.Lys981Asn) c.2574A>C (p.Lys858Asn) n.2943A>C | COSMIC COSMIC |
| 13 | g.32337298A>G | CA483437240 | BRCA2 | c.2943A>G (p.Lys981=) c.2574A>G (p.Lys858=) n.2943A>G | ClinVar dbSNP |
| 13 | g.32337298A>T | CA387774329 | BRCA2 | c.2943A>T (p.Lys981Asn) c.2574A>T (p.Lys858Asn) n.2943A>T | |
| 13 | g.32337299A= | CA2082813014 | BRCA2 | c.2944A= (p.Ile982=) c.2575A= (p.Ile859=) n.2944A= | |
| 13 | g.32337299A>C | CA016848 | BRCA2 | c.2944A>C (p.Ile982Leu) c.2575A>C (p.Ile859Leu) n.2944A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337299A>G | CA387774332 | BRCA2 | c.2944A>G (p.Ile982Val) c.2575A>G (p.Ile859Val) n.2944A>G | |
| 13 | g.32337299A>T | CA387774333 | BRCA2 | c.2944A>T (p.Ile982Leu) c.2575A>T (p.Ile859Leu) n.2944A>T | |
| 13 | g.32337299_32337300delinsAT | CA2082813013 | BRCA2 | c.2944_2945delinsAT (p.Ile982=) c.2575_2576delinsAT (p.Ile859=) n.2944_2945delinsAT | |
| 13 | g.32337299_32337300insCCATGGTAGAGT | CA2082813023 | BRCA2 | c.2944_2945insCCATGGTAGAGT (p.Ile982delinsThrMetValGluLeu) c.2575_2576insCCATGGTAGAGT (p.Ile859delinsThrMetValGluLeu) n.2944_2945insCCATGGTAGAGT | dbSNP |
| 13 | g.32337300del | CA10589179 | BRCA2 | c.2945del (p.Ile982AsnfsTer9) c.2576del (p.Ile859AsnfsTer9) n.2945del | ClinVar dbSNP |
| 13 | g.32337300T>A | CA387774334 | BRCA2 | c.2945T>A (p.Ile982Lys) c.2576T>A (p.Ile859Lys) n.2945T>A | dbSNP |
| 13 | g.32337300T>C | CA387774335 | BRCA2 | c.2945T>C (p.Ile982Thr) c.2576T>C (p.Ile859Thr) n.2945T>C | dbSNP gnomAD v4 |
| 13 | g.32337300T>G | CA387774336 | BRCA2 | c.2945T>G (p.Ile982Arg) c.2576T>G (p.Ile859Arg) n.2945T>G | |
| 13 | g.32337301A= | CA2082813030 | BRCA2 | c.2946A= (p.Ile982=) c.2577A= (p.Ile859=) n.2946A= | |
| 13 | g.32337301A>C | CA16606420 | BRCA2 | c.2946A>C (p.Ile982=) c.2577A>C (p.Ile859=) n.2946A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337301A>G | CA016856 | BRCA2 | c.2946A>G (p.Ile982Met) c.2577A>G (p.Ile859Met) n.2946A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337301A>T | CA483437243 | BRCA2 | c.2946A>T (p.Ile982=) c.2577A>T (p.Ile859=) n.2946A>T | ClinVar |
| 13 | g.32337302C>A | CA016868 | BRCA2 | c.2947C>A (p.Pro983Thr) c.2578C>A (p.Pro860Thr) n.2947C>A | ClinVar dbSNP |
| 13 | g.32337302C= | CA2082813045 | BRCA2 | c.2947C= (p.Pro983=) c.2578C= (p.Pro860=) n.2947C= | |
| 13 | g.32337302C>G | CA387774342 | BRCA2 | c.2947C>G (p.Pro983Ala) c.2578C>G (p.Pro860Ala) n.2947C>G | dbSNP |
| 13 | g.32337302C>T | CA387774344 | BRCA2 | c.2947C>T (p.Pro983Ser) c.2578C>T (p.Pro860Ser) n.2947C>T | dbSNP gnomAD v4 |
| 13 | g.32337303C>A | CA387774352 | BRCA2 | c.2948C>A (p.Pro983Gln) c.2579C>A (p.Pro860Gln) n.2948C>A | dbSNP |
| 13 | g.32337303C>G | CA387774349 | BRCA2 | c.2948C>G (p.Pro983Arg) c.2579C>G (p.Pro860Arg) n.2948C>G | dbSNP |
| 13 | g.32337303C>T | CA387774346 | BRCA2 | c.2948C>T (p.Pro983Leu) c.2579C>T (p.Pro860Leu) n.2948C>T | ClinVar dbSNP |
| 13 | g.32337304A= | CA2082813051 | BRCA2 | c.2949A= (p.Pro983=) c.2580A= (p.Pro860=) n.2949A= | |
| 13 | g.32337304A>C | CA483437250 | BRCA2 | c.2949A>C (p.Pro983=) c.2580A>C (p.Pro860=) n.2949A>C | |
| 13 | g.32337304A>G | CA6940646 | BRCA2 | c.2949A>G (p.Pro983=) c.2580A>G (p.Pro860=) n.2949A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337304A>T | CA483437248 | BRCA2 | c.2949A>T (p.Pro983=) c.2580A>T (p.Pro860=) n.2949A>T | |
| 13 | g.32337305del | CA2580087311 | BRCA2 | c.2950del (p.Glu984LysfsTer7) c.2581del (p.Glu861LysfsTer7) n.2950del | ClinVar dbSNP |
| 13 | g.32337305G>A | CA387774357 | BRCA2 | c.2950G>A (p.Glu984Lys) c.2581G>A (p.Glu861Lys) n.2950G>A | |
| 13 | g.32337305G>C | CA387774360 | BRCA2 | c.2950G>C (p.Glu984Gln) c.2581G>C (p.Glu861Gln) n.2950G>C | |
| 13 | g.32337305G= | CA2082813070 | BRCA2 | c.2950G= (p.Glu984=) c.2581G= (p.Glu861=) n.2950G= | |
| 13 | g.32337305G>T | CA016874 | BRCA2 | c.2950G>T (p.Glu984Ter) c.2581G>T (p.Glu861Ter) n.2950G>T | ClinVar dbSNP |
| 13 | g.32337305dup | CA2837995347 | BRCA2 | c.2950dup (p.Glu984GlyfsTer4) c.2581dup (p.Glu861GlyfsTer4) n.2950dup | |
| 13 | g.32337305_32337309delinsGAAAA | CA2082813067 | BRCA2 | c.2950_2954delinsGAAAA (p.Glu984=) c.2581_2585delinsGAAAA (p.Glu861=) n.2950_2954delinsGAAAA | |
| 13 | g.32337306A= | CA2082813103 | BRCA2 | c.2951A= (p.Glu984=) c.2582A= (p.Glu861=) n.2951A= | |
| 13 | g.32337306A>C | CA387774365 | BRCA2 | c.2951A>C (p.Glu984Ala) c.2582A>C (p.Glu861Ala) n.2951A>C | |
| 13 | g.32337306A>G | CA6940647 | BRCA2 | c.2951A>G (p.Glu984Gly) c.2582A>G (p.Glu861Gly) n.2951A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337306A>T | CA387774369 | BRCA2 | c.2951A>T (p.Glu984Val) c.2582A>T (p.Glu861Val) n.2951A>T | |
| 13 | g.32337312dup | CA016881 | BRCA2 | c.2957dup (p.Asn986LysfsTer2) c.2588dup (p.Asn863LysfsTer2) n.2957dup | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32337312del | CA10586507 | BRCA2 | c.2957del (p.Asn986IlefsTer5) c.2588del (p.Asn863IlefsTer5) n.2957del | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32337309_32337312del | CA10589180 | BRCA2 | c.2954_2957del (p.Lys985IlefsTer5) c.2585_2588del (p.Lys862IlefsTer5) n.2954_2957del | ClinVar dbSNP |
| 13 | g.32337307A= | CA2082813112 | BRCA2 | c.2952A= (p.Glu984=) c.2583A= (p.Glu861=) n.2952A= | |
| 13 | g.32337307A>C | CA6940648 | BRCA2 | c.2952A>C (p.Glu984Asp) c.2583A>C (p.Glu861Asp) n.2952A>C | dbSNP ExAC gnomAD v2 |
| 13 | g.32337307A>G | CA483437254 | BRCA2 | c.2952A>G (p.Glu984=) c.2583A>G (p.Glu861=) n.2952A>G | dbSNP |
| 13 | g.32337307A>T | CA387774377 | BRCA2 | c.2952A>T (p.Glu984Asp) c.2583A>T (p.Glu861Asp) n.2952A>T | dbSNP |
| 13 | g.32337308A= | CA2082813119 | BRCA2 | c.2953A= (p.Lys985=) c.2584A= (p.Lys862=) n.2953A= | |
| 13 | g.32337308A>C | CA387774381 | BRCA2 | c.2953A>C (p.Lys985Gln) c.2584A>C (p.Lys862Gln) n.2953A>C | |
| 13 | g.32337308A>G | CA387774387 | BRCA2 | c.2953A>G (p.Lys985Glu) c.2584A>G (p.Lys862Glu) n.2953A>G | ClinVar dbSNP |
| 13 | g.32337308A>T | CA387774388 | BRCA2 | c.2953A>T (p.Lys985Ter) c.2584A>T (p.Lys862Ter) n.2953A>T | |
| 13 | g.32337309A>C | CA387774393 | BRCA2 | c.2954A>C (p.Lys985Thr) c.2585A>C (p.Lys862Thr) n.2954A>C | |
| 13 | g.32337309A>G | CA387774395 | BRCA2 | c.2954A>G (p.Lys985Arg) c.2585A>G (p.Lys862Arg) n.2954A>G | |
| 13 | g.32337309A>T | CA387774398 | BRCA2 | c.2954A>T (p.Lys985Ile) c.2585A>T (p.Lys862Ile) n.2954A>T | dbSNP |
| 13 | g.32337310A= | CA2082813127 | BRCA2 | c.2955A= (p.Lys985=) c.2586A= (p.Lys862=) n.2955A= | |
| 13 | g.32337310A>C | CA387774404 | BRCA2 | c.2955A>C (p.Lys985Asn) c.2586A>C (p.Lys862Asn) n.2955A>C | |
| 13 | g.32337310A>G | CA483437256 | BRCA2 | c.2955A>G (p.Lys985=) c.2586A>G (p.Lys862=) n.2955A>G | ClinVar dbSNP |
| 13 | g.32337310A>T | CA387774400 | BRCA2 | c.2955A>T (p.Lys985Asn) c.2586A>T (p.Lys862Asn) n.2955A>T | ClinVar dbSNP |
| 13 | g.32337310_32337313delinsAAAT | CA2082813128 | BRCA2 | c.2955_2958delinsAAAT (p.Lys985=) c.2586_2589delinsAAAT (p.Lys862=) n.2955_2958delinsAAAT | |
| 13 | g.32337311A= | CA2082813140 | BRCA2 | c.2956A= (p.Asn986=) c.2587A= (p.Asn863=) n.2956A= | |
| 13 | g.32337311A>C | CA387774410 | BRCA2 | c.2956A>C (p.Asn986His) c.2587A>C (p.Asn863His) n.2956A>C | dbSNP |
| 13 | g.32337311A>G | CA6940649 | BRCA2 | c.2956A>G (p.Asn986Asp) c.2587A>G (p.Asn863Asp) n.2956A>G | ClinVar dbSNP ExAC |
| 13 | g.32337311A>T | CA10579557 | BRCA2 | c.2956A>T (p.Asn986Tyr) c.2587A>T (p.Asn863Tyr) n.2956A>T | ClinVar dbSNP |
| 13 | g.32337314_32337316del | CA016908 | BRCA2 | c.2959_2961del (p.Asn987del) c.2590_2592del (p.Asn864del) n.2959_2961del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337311_32337312insG | CA658823645 | BRCA2 | c.2956_2957insG (p.Asn986ArgfsTer2) c.2587_2588insG (p.Asn863ArgfsTer2) n.2956_2957insG | ClinVar dbSNP |
| 13 | g.32337312A= | CA2082813155 | BRCA2 | c.2957A= (p.Asn986=) c.2588A= (p.Asn863=) n.2957A= | |
| 13 | g.32337312A>C | CA387774414 | BRCA2 | c.2957A>C (p.Asn986Thr) c.2588A>C (p.Asn863Thr) n.2957A>C | |
| 13 | g.32337312A>G | CA016896 | BRCA2 | c.2957A>G (p.Asn986Ser) c.2588A>G (p.Asn863Ser) n.2957A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337312A>T | CA016904 | BRCA2 | c.2957A>T (p.Asn986Ile) c.2588A>T (p.Asn863Ile) n.2957A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337312_32337313delinsAT | CA2082813162 | BRCA2 | c.2957_2958delinsAT (p.Asn986=) c.2588_2589delinsAT (p.Asn863=) n.2957_2958delinsAT | |
| 13 | g.32337312_32337313insG | CA016887 | BRCA2 | c.2957_2958insG (p.Asn986LysfsTer2) c.2588_2589insG (p.Asn863LysfsTer2) n.2957_2958insG | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337313del | CA915948445 | BRCA2 | c.2958del (p.Asn986LysfsTer5) c.2589del (p.Asn863LysfsTer5) n.2958del | ClinVar dbSNP |
| 13 | g.32337313T>A | CA387774432 | BRCA2 | c.2958T>A (p.Asn986Lys) c.2589T>A (p.Asn863Lys) n.2958T>A | dbSNP |
| 13 | g.32337313T>C | CA483437258 | BRCA2 | c.2958T>C (p.Asn986=) c.2589T>C (p.Asn863=) n.2958T>C | |
| 13 | g.32337313T>G | CA387774437 | BRCA2 | c.2958T>G (p.Asn986Lys) c.2589T>G (p.Asn863Lys) n.2958T>G | |
| 13 | g.32337313T= | CA2082813170 | BRCA2 | c.2958T= (p.Asn986=) c.2589T= (p.Asn863=) n.2958T= | |
| 13 | g.32337314A>C | CA387774443 | BRCA2 | c.2959A>C (p.Asn987His) c.2590A>C (p.Asn864His) n.2959A>C | |
| 13 | g.32337314A>G | CA387774445 | BRCA2 | c.2959A>G (p.Asn987Asp) c.2590A>G (p.Asn864Asp) n.2959A>G | |
| 13 | g.32337314A>T | CA387774440 | BRCA2 | c.2959A>T (p.Asn987Tyr) c.2590A>T (p.Asn864Tyr) n.2959A>T | dbSNP |
| 13 | g.32337315dup | CA10589181 | BRCA2 | c.2960dup (p.Asn987LysfsTer2) c.2591dup (p.Asn864LysfsTer2) n.2960dup | ClinVar dbSNP |
| 13 | g.32337315A= | CA2082813182 | BRCA2 | c.2960A= (p.Asn987=) c.2591A= (p.Asn864=) n.2960A= | |
| 13 | g.32337315A>C | CA387774446 | BRCA2 | c.2960A>C (p.Asn987Thr) c.2591A>C (p.Asn864Thr) n.2960A>C | |
| 13 | g.32337315A>G | CA387774449 | BRCA2 | c.2960A>G (p.Asn987Ser) c.2591A>G (p.Asn864Ser) n.2960A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337315A>T | CA016915 | BRCA2 | c.2960A>T (p.Asn987Ile) c.2591A>T (p.Asn864Ile) n.2960A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337315_32337316delinsAT | CA2082813219 | BRCA2 | c.2960_2961delinsAT (p.Asn987=) c.2591_2592delinsAT (p.Asn864=) n.2960_2961delinsAT | |
| 13 | g.32337316del | CA10586508 | BRCA2 | c.2961del (p.Asn987LysfsTer4) c.2592del (p.Asn864LysfsTer4) n.2961del | ClinVar dbSNP |
| 13 | g.32337316T>A | CA387774455 | BRCA2 | c.2961T>A (p.Asn987Lys) c.2592T>A (p.Asn864Lys) n.2961T>A | dbSNP |
| 13 | g.32337316T>C | CA483437260 | BRCA2 | c.2961T>C (p.Asn987=) c.2592T>C (p.Asn864=) n.2961T>C | |
| 13 | g.32337316T>G | CA387774458 | BRCA2 | c.2961T>G (p.Asn987Lys) c.2592T>G (p.Asn864Lys) n.2961T>G | |
| 13 | g.32337317G>A | CA387774463 | BRCA2 | c.2962G>A (p.Asp988Asn) c.2593G>A (p.Asp865Asn) n.2962G>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32337317G>C | CA387774464 | BRCA2 | c.2962G>C (p.Asp988His) c.2593G>C (p.Asp865His) n.2962G>C | ClinVar dbSNP |
| 13 | g.32337317G= | CA2082813237 | BRCA2 | c.2962G= (p.Asp988=) c.2593G= (p.Asp865=) n.2962G= | |
| 13 | g.32337317G>T | CA387774466 | BRCA2 | c.2962G>T (p.Asp988Tyr) c.2593G>T (p.Asp865Tyr) n.2962G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337318A= | CA2082813250 | BRCA2 | c.2963A= (p.Asp988=) c.2594A= (p.Asp865=) n.2963A= | |
| 13 | g.32337318A>C | CA10579558 | BRCA2 | c.2963A>C (p.Asp988Ala) c.2594A>C (p.Asp865Ala) n.2963A>C | ClinVar dbSNP |
| 13 | g.32337318A>G | CA16619679 | BRCA2 | c.2963A>G (p.Asp988Gly) c.2594A>G (p.Asp865Gly) n.2963A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337318A>T | CA387774469 | BRCA2 | c.2963A>T (p.Asp988Val) c.2594A>T (p.Asp865Val) n.2963A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337319T>A | CA387774475 | BRCA2 | c.2964T>A (p.Asp988Glu) c.2595T>A (p.Asp865Glu) n.2964T>A | dbSNP |
| 13 | g.32337319T>C | CA483437262 | BRCA2 | c.2964T>C (p.Asp988=) c.2595T>C (p.Asp865=) n.2964T>C | |
| 13 | g.32337319T>G | CA387774473 | BRCA2 | c.2964T>G (p.Asp988Glu) c.2595T>G (p.Asp865Glu) n.2964T>G | |
| 13 | g.32337320T>A | CA387774488 | BRCA2 | c.2965T>A (p.Tyr989Asn) c.2596T>A (p.Tyr866Asn) n.2965T>A | ClinVar dbSNP |
| 13 | g.32337320T>C | CA387774489 | BRCA2 | c.2965T>C (p.Tyr989His) c.2596T>C (p.Tyr866His) n.2965T>C | dbSNP |
| 13 | g.32337320T>G | CA016920 | BRCA2 | c.2965T>G (p.Tyr989Asp) c.2596T>G (p.Tyr866Asp) n.2965T>G | ClinVar dbSNP |
| 13 | g.32337320T= | CA2082813268 | BRCA2 | c.2965T= (p.Tyr989=) c.2596T= (p.Tyr866=) n.2965T= | |
| 13 | g.32337321A= | CA2082813278 | BRCA2 | c.2966A= (p.Tyr989=) c.2597A= (p.Tyr866=) n.2966A= | |
| 13 | g.32337321A>C | CA387774493 | BRCA2 | c.2966A>C (p.Tyr989Ser) c.2597A>C (p.Tyr866Ser) n.2966A>C | |
| 13 | g.32337321A>G | CA387774495 | BRCA2 | c.2966A>G (p.Tyr989Cys) c.2597A>G (p.Tyr866Cys) n.2966A>G | |
| 13 | g.32337321A>T | CA387774500 | BRCA2 | c.2966A>T (p.Tyr989Phe) c.2597A>T (p.Tyr866Phe) n.2966A>T | ClinVar dbSNP |
| 13 | g.32337322del | CA2582341844 | BRCA2 | c.2967del (p.Tyr989Ter) c.2598del (p.Tyr866Ter) n.2967del | ClinVar |
| 13 | g.32337322C>A | CA387774503 | BRCA2 | c.2967C>A (p.Tyr989Ter) c.2598C>A (p.Tyr866Ter) n.2967C>A | |
| 13 | g.32337322C>G | CA387774506 | BRCA2 | c.2967C>G (p.Tyr989Ter) c.2598C>G (p.Tyr866Ter) n.2967C>G | dbSNP |
| 13 | g.32337322C>T | CA483437264 | BRCA2 | c.2967C>T (p.Tyr989=) c.2598C>T (p.Tyr866=) n.2967C>T | dbSNP |
| 13 | g.32337323A= | CA2082813286 | BRCA2 | c.2968A= (p.Met990=) c.2599A= (p.Met867=) n.2968A= | |
| 13 | g.32337323A>C | CA387774509 | BRCA2 | c.2968A>C (p.Met990Leu) c.2599A>C (p.Met867Leu) n.2968A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337323A>G | CA10579559 | BRCA2 | c.2968A>G (p.Met990Val) c.2599A>G (p.Met867Val) n.2968A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337323A>T | CA387774510 | BRCA2 | c.2968A>T (p.Met990Leu) c.2599A>T (p.Met867Leu) n.2968A>T | |
| 13 | g.32337324T>A | CA10579560 | BRCA2 | c.2969T>A (p.Met990Lys) c.2600T>A (p.Met867Lys) n.2969T>A | ClinVar dbSNP |
| 13 | g.32337324T>C | CA387774514 | BRCA2 | c.2969T>C (p.Met990Thr) c.2600T>C (p.Met867Thr) n.2969T>C | |
| 13 | g.32337324T>G | CA387774515 | BRCA2 | c.2969T>G (p.Met990Arg) c.2600T>G (p.Met867Arg) n.2969T>G | |
| 13 | g.32337324T= | CA2082813291 | BRCA2 | c.2969T= (p.Met990=) c.2600T= (p.Met867=) n.2969T= | |
| 13 | g.32337324_32337337delinsTGAACAAATGGGCA | CA2082813294 | BRCA2 | c.2969_2982delinsTGAACAAATGGGCA (p.Met990=) c.2600_2613delinsTGAACAAATGGGCA (p.Met867=) n.2969_2982delinsTGAACAAATGGGCA | |
| 13 | g.32337325G>A | CA387774516 | BRCA2 | c.2970G>A (p.Met990Ile) c.2601G>A (p.Met867Ile) n.2970G>A | |
| 13 | g.32337325G>C | CA387774520 | BRCA2 | c.2970G>C (p.Met990Ile) c.2601G>C (p.Met867Ile) n.2970G>C | dbSNP gnomAD v4 |
| 13 | g.32337325G>T | CA387774518 | BRCA2 | c.2970G>T (p.Met990Ile) c.2601G>T (p.Met867Ile) n.2970G>T | dbSNP |
| 13 | g.32337326_32337338del | CA10589182 | BRCA2 | c.2971_2983del (p.Asn991AspfsTer3) c.2602_2614del (p.Asn868AspfsTer3) n.2971_2983del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337326A= | CA2018046950 | BRCA2 | c.2971A= (p.Asn991=) c.2602A= (p.Asn868=) n.2971A= | |
| 13 | g.32337326A>C | CA387774522 | BRCA2 | c.2971A>C (p.Asn991His) c.2602A>C (p.Asn868His) n.2971A>C | dbSNP |
| 13 | g.32337326A>G | CA016928 | BRCA2 | c.2971A>G (p.Asn991Asp) c.2602A>G (p.Asn868Asp) n.2971A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337326A>T | CA387774524 | BRCA2 | c.2971A>T (p.Asn991Tyr) c.2602A>T (p.Asn868Tyr) n.2971A>T | dbSNP |
| 13 | g.32337327A>C | CA387774529 | BRCA2 | c.2972A>C (p.Asn991Thr) c.2603A>C (p.Asn868Thr) n.2972A>C | dbSNP |
| 13 | g.32337327A>G | CA387774526 | BRCA2 | c.2972A>G (p.Asn991Ser) c.2603A>G (p.Asn868Ser) n.2972A>G | |
| 13 | g.32337327A>T | CA387774530 | BRCA2 | c.2972A>T (p.Asn991Ile) c.2603A>T (p.Asn868Ile) n.2972A>T | dbSNP |
| 13 | g.32337328del | CA2695199257 | BRCA2 | c.2973del (p.Asn991LysfsTer7) c.2604del (p.Asn868LysfsTer7) n.2973del | ClinVar |
| 13 | g.32337328C>A | CA387774532 | BRCA2 | c.2973C>A (p.Asn991Lys) c.2604C>A (p.Asn868Lys) n.2973C>A | dbSNP |
| 13 | g.32337328C= | CA2082813320 | BRCA2 | c.2973C= (p.Asn991=) c.2604C= (p.Asn868=) n.2973C= | |
| 13 | g.32337328C>G | CA387774534 | BRCA2 | c.2973C>G (p.Asn991Lys) c.2604C>G (p.Asn868Lys) n.2973C>G | ClinVar dbSNP |
| 13 | g.32337328C>T | CA483437273 | BRCA2 | c.2973C>T (p.Asn991=) c.2604C>T (p.Asn868=) n.2973C>T | ClinVar dbSNP |
| 13 | g.32337328_32337329delinsCA | CA2082813317 | BRCA2 | c.2973_2974delinsCA (p.Asn991=) c.2604_2605delinsCA (p.Asn868=) n.2973_2974delinsCA | |
| 13 | g.32337329A>C | CA387774537 | BRCA2 | c.2974A>C (p.Lys992Gln) c.2605A>C (p.Lys869Gln) n.2974A>C | |
| 13 | g.32337329A>G | CA387774539 | BRCA2 | c.2974A>G (p.Lys992Glu) c.2605A>G (p.Lys869Glu) n.2974A>G | |
| 13 | g.32337329A>T | CA387774542 | BRCA2 | c.2974A>T (p.Lys992Ter) c.2605A>T (p.Lys869Ter) n.2974A>T | |
| 13 | g.32337331del | CA16614126 | BRCA2 | c.2976del (p.Lys992AsnfsTer6) c.2607del (p.Lys869AsnfsTer6) n.2976del | ClinVar dbSNP |
| 13 | g.32337330A= | CA2082813333 | BRCA2 | c.2975A= (p.Lys992=) c.2606A= (p.Lys869=) n.2975A= | |
| 13 | g.32337330A>C | CA387774544 | BRCA2 | c.2975A>C (p.Lys992Thr) c.2606A>C (p.Lys869Thr) n.2975A>C | |
| 13 | g.32337330A>G | CA387774547 | BRCA2 | c.2975A>G (p.Lys992Arg) c.2606A>G (p.Lys869Arg) n.2975A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337330A>T | CA387774548 | BRCA2 | c.2975A>T (p.Lys992Ile) c.2606A>T (p.Lys869Ile) n.2975A>T | ClinVar dbSNP |
| 13 | g.32337331A= | CA2082813340 | BRCA2 | c.2976A= (p.Lys992=) c.2607A= (p.Lys869=) n.2976A= | |
| 13 | g.32337331A>C | CA387774551 | BRCA2 | c.2976A>C (p.Lys992Asn) c.2607A>C (p.Lys869Asn) n.2976A>C | dbSNP |
| 13 | g.32337331A>G | CA483437274 | BRCA2 | c.2976A>G (p.Lys992=) c.2607A>G (p.Lys869=) n.2976A>G | |
| 13 | g.32337331A>T | CA387774552 | BRCA2 | c.2976A>T (p.Lys992Asn) c.2607A>T (p.Lys869Asn) n.2976A>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337332T>A | CA387774559 | BRCA2 | c.2977T>A (p.Trp993Arg) c.2608T>A (p.Trp870Arg) n.2977T>A | |
| 13 | g.32337332T>C | CA387774556 | BRCA2 | c.2977T>C (p.Trp993Arg) c.2608T>C (p.Trp870Arg) n.2977T>C | |
| 13 | g.32337332T>G | CA387774554 | BRCA2 | c.2977T>G (p.Trp993Gly) c.2608T>G (p.Trp870Gly) n.2977T>G | |
| 13 | g.32337333G>A | CA016937 | BRCA2 | c.2978G>A (p.Trp993Ter) c.2609G>A (p.Trp870Ter) n.2978G>A | ClinVar dbSNP |
| 13 | g.32337333G>C | CA387774561 | BRCA2 | c.2978G>C (p.Trp993Ser) c.2609G>C (p.Trp870Ser) n.2978G>C | ClinVar dbSNP |
| 13 | g.32337333G= | CA2082813345 | BRCA2 | c.2978G= (p.Trp993=) c.2609G= (p.Trp870=) n.2978G= | |
| 13 | g.32337333G>T | CA387774562 | BRCA2 | c.2978G>T (p.Trp993Leu) c.2609G>T (p.Trp870Leu) n.2978G>T | |
| 13 | g.32337335del | CA1139532605 | BRCA2 | c.2980del (p.Ala994GlnfsTer4) c.2611del (p.Ala871GlnfsTer4) n.2980del | ClinVar dbSNP |
| 13 | g.32337335_32337339del | CA2695218023 | BRCA2 | c.2980_2984del (p.Ala994ThrfsTer13) c.2611_2615del (p.Ala871ThrfsTer13) n.2980_2984del | |
| 13 | g.32337333_32337341del | CA2697551738 | BRCA2 | c.2978_2986del (p.Trp993_Leu996delinsPhe) c.2609_2617del (p.Trp870_Leu873delinsPhe) n.2978_2986del | ClinVar |
| 13 | g.32337334G>A | CA016943 | BRCA2 | c.2979G>A (p.Trp993Ter) c.2610G>A (p.Trp870Ter) n.2979G>A | ClinVar dbSNP |
| 13 | g.32337334G>C | CA387774563 | BRCA2 | c.2979G>C (p.Trp993Cys) c.2610G>C (p.Trp870Cys) n.2979G>C | dbSNP COSMIC COSMIC |
| 13 | g.32337334G= | CA2082813356 | BRCA2 | c.2979G= (p.Trp993=) c.2610G= (p.Trp870=) n.2979G= | |
| 13 | g.32337334G>T | CA387774564 | BRCA2 | c.2979G>T (p.Trp993Cys) c.2610G>T (p.Trp870Cys) n.2979G>T | dbSNP |
| 13 | g.32337335G>A | CA016949 | BRCA2 | c.2980G>A (p.Ala994Thr) c.2611G>A (p.Ala871Thr) n.2980G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337335G>C | CA387774565 | BRCA2 | c.2980G>C (p.Ala994Pro) c.2611G>C (p.Ala871Pro) n.2980G>C | dbSNP |
| 13 | g.32337335G= | CA2082813359 | BRCA2 | c.2980G= (p.Ala994=) c.2611G= (p.Ala871=) n.2980G= | |
| 13 | g.32337335G>T | CA387774566 | BRCA2 | c.2980G>T (p.Ala994Ser) c.2611G>T (p.Ala871Ser) n.2980G>T | dbSNP |
| 13 | g.32337336C>A | CA387774567 | BRCA2 | c.2981C>A (p.Ala994Glu) c.2612C>A (p.Ala871Glu) n.2981C>A | dbSNP |
| 13 | g.32337336C= | CA2082813367 | BRCA2 | c.2981C= (p.Ala994=) c.2612C= (p.Ala871=) n.2981C= | |
| 13 | g.32337336C>G | CA387774568 | BRCA2 | c.2981C>G (p.Ala994Gly) c.2612C>G (p.Ala871Gly) n.2981C>G | dbSNP gnomAD v4 |
| 13 | g.32337336C>T | CA016957 | BRCA2 | c.2981C>T (p.Ala994Val) c.2612C>T (p.Ala871Val) n.2981C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337337A= | CA2082813376 | BRCA2 | c.2982A= (p.Ala994=) c.2613A= (p.Ala871=) n.2982A= | |
| 13 | g.32337337A>C | CA483437278 | BRCA2 | c.2982A>C (p.Ala994=) c.2613A>C (p.Ala871=) n.2982A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337337A>G | CA483437279 | BRCA2 | c.2982A>G (p.Ala994=) c.2613A>G (p.Ala871=) n.2982A>G | |
| 13 | g.32337337A>T | CA483437281 | BRCA2 | c.2982A>T (p.Ala994=) c.2613A>T (p.Ala871=) n.2982A>T | ClinVar |
| 13 | g.32337338G>A | CA387774571 | BRCA2 | c.2983G>A (p.Gly995Arg) c.2614G>A (p.Gly872Arg) n.2983G>A | ClinVar dbSNP |
| 13 | g.32337338G>C | CA387774573 | BRCA2 | c.2983G>C (p.Gly995Arg) c.2614G>C (p.Gly872Arg) n.2983G>C | dbSNP |
| 13 | g.32337338G= | CA2082813384 | BRCA2 | c.2983G= (p.Gly995=) c.2614G= (p.Gly872=) n.2983G= | |
| 13 | g.32337338G>T | CA10589183 | BRCA2 | c.2983G>T (p.Gly995Ter) c.2614G>T (p.Gly872Ter) n.2983G>T | ClinVar dbSNP |
| 13 | g.32337339G>A | CA387774577 | BRCA2 | c.2984G>A (p.Gly995Glu) c.2615G>A (p.Gly872Glu) n.2984G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337339G>C | CA016963 | BRCA2 | c.2984G>C (p.Gly995Ala) c.2615G>C (p.Gly872Ala) n.2984G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337339G= | CA2082813396 | BRCA2 | c.2984G= (p.Gly995=) c.2615G= (p.Gly872=) n.2984G= | |
| 13 | g.32337339G>T | CA387774581 | BRCA2 | c.2984G>T (p.Gly995Val) c.2615G>T (p.Gly872Val) n.2984G>T | gnomAD v4 |
| 13 | g.32337340A>C | CA483437283 | BRCA2 | c.2985A>C (p.Gly995=) c.2616A>C (p.Gly872=) n.2985A>C | ClinVar dbSNP |
| 13 | g.32337340A>G | CA483437285 | BRCA2 | c.2985A>G (p.Gly995=) c.2616A>G (p.Gly872=) n.2985A>G | |
| 13 | g.32337340A>T | CA483437287 | BRCA2 | c.2985A>T (p.Gly995=) c.2616A>T (p.Gly872=) n.2985A>T | dbSNP COSMIC COSMIC |
| 13 | g.32337341C>A | CA387774584 | BRCA2 | c.2986C>A (p.Leu996Ile) c.2617C>A (p.Leu873Ile) n.2986C>A | dbSNP |
| 13 | g.32337341C= | CA2082813406 | BRCA2 | c.2986C= (p.Leu996=) c.2617C= (p.Leu873=) n.2986C= | |
| 13 | g.32337341C>G | CA387774588 | BRCA2 | c.2986C>G (p.Leu996Val) c.2617C>G (p.Leu873Val) n.2986C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337341C>T | CA387774591 | BRCA2 | c.2986C>T (p.Leu996Phe) c.2617C>T (p.Leu873Phe) n.2986C>T | |
| 13 | g.32337342T>A | CA387774594 | BRCA2 | c.2987T>A (p.Leu996His) c.2618T>A (p.Leu873His) n.2987T>A | ClinVar dbSNP |
| 13 | g.32337342T>C | CA387774596 | BRCA2 | c.2987T>C (p.Leu996Pro) c.2618T>C (p.Leu873Pro) n.2987T>C | ClinVar |
| 13 | g.32337342T>G | CA016971 | BRCA2 | c.2987T>G (p.Leu996Arg) c.2618T>G (p.Leu873Arg) n.2987T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337342T= | CA2082813418 | BRCA2 | c.2987T= (p.Leu996=) c.2618T= (p.Leu873=) n.2987T= | |
| 13 | g.32337342dup | CA609453775 | BRCA2 | c.2987dup (p.Gly998ArgfsTer11) c.2618dup (p.Gly875ArgfsTer11) n.2987dup | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337343C>A | CA483437289 | BRCA2 | c.2988C>A (p.Leu996=) c.2619C>A (p.Leu873=) n.2988C>A | |
| 13 | g.32337343C= | CA2082813429 | BRCA2 | c.2988C= (p.Leu996=) c.2619C= (p.Leu873=) n.2988C= | |
| 13 | g.32337343C>G | CA6940650 | BRCA2 | c.2988C>G (p.Leu996=) c.2619C>G (p.Leu873=) n.2988C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337343C>T | CA483437288 | BRCA2 | c.2988C>T (p.Leu996=) c.2619C>T (p.Leu873=) n.2988C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337343_32337345delinsCTT | CA2082813439 | BRCA2 | c.2988_2990delinsCTT (p.Leu996=) c.2619_2621delinsCTT (p.Leu873=) n.2988_2990delinsCTT | |
| 13 | g.32337343_32337346dup | CA2580086909 | BRCA2 | c.2988_2991dup (p.Gly998LeufsTer12) c.2619_2622dup (p.Gly875LeufsTer12) n.2988_2991dup | ClinVar |
| 13 | g.32337343_32337352del | CA2739277534 | BRCA2 | c.2988_2997del (p.Leu997PhefsTer?) c.2619_2628del (p.Leu874PhefsTer?) n.2988_2997del | ClinVar |
| 13 | g.32337344T>A | CA387774600 | BRCA2 | c.2989T>A (p.Leu997Ile) c.2620T>A (p.Leu874Ile) n.2989T>A | dbSNP |
| 13 | g.32337344T>C | CA483437290 | BRCA2 | c.2989T>C (p.Leu997=) c.2620T>C (p.Leu874=) n.2989T>C | ClinVar dbSNP |
| 13 | g.32337344T>G | CA387774601 | BRCA2 | c.2989T>G (p.Leu997Val) c.2620T>G (p.Leu874Val) n.2989T>G | |
| 13 | g.32337344T= | CA2082813449 | BRCA2 | c.2989T= (p.Leu997=) c.2620T= (p.Leu874=) n.2989T= | |
| 13 | g.32337344_32337345del | CA658683853 | BRCA2 | c.2989_2990del (p.Leu997ArgfsTer11) c.2620_2621del (p.Leu874ArgfsTer11) n.2989_2990del | ClinVar dbSNP |
| 13 | g.32337345T>A | CA016989 | BRCA2 | c.2990T>A (p.Leu997Ter) c.2621T>A (p.Leu874Ter) n.2990T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337345T>C | CA387774603 | BRCA2 | c.2990T>C (p.Leu997Ser) c.2621T>C (p.Leu874Ser) n.2990T>C | ClinVar dbSNP |
| 13 | g.32337345T>G | CA10589184 | BRCA2 | c.2990T>G (p.Leu997Ter) c.2621T>G (p.Leu874Ter) n.2990T>G | ClinVar dbSNP |
| 13 | g.32337345T= | CA2082813462 | BRCA2 | c.2990T= (p.Leu997=) c.2621T= (p.Leu874=) n.2990T= | |
| 13 | g.32337346del | CA2727914919 | BRCA2 | c.2991del (p.Gly998ValfsTer?) c.2622del (p.Gly875ValfsTer?) n.2991del | dbSNP |
| 13 | g.32337346A= | CA2082813480 | BRCA2 | c.2991A= (p.Leu997=) c.2622A= (p.Leu874=) n.2991A= | |
| 13 | g.32337346A>C | CA387774607 | BRCA2 | c.2991A>C (p.Leu997Phe) c.2622A>C (p.Leu874Phe) n.2991A>C | |
| 13 | g.32337346A>G | CA483437291 | BRCA2 | c.2991A>G (p.Leu997=) c.2622A>G (p.Leu874=) n.2991A>G | ClinVar dbSNP |
| 13 | g.32337346A>T | CA387774609 | BRCA2 | c.2991A>T (p.Leu997Phe) c.2622A>T (p.Leu874Phe) n.2991A>T | ClinVar dbSNP |
| 13 | g.32337346_32337348delinsAGG | CA2082813471 | BRCA2 | c.2991_2993delinsAGG (p.Leu997=) c.2622_2624delinsAGG (p.Leu874=) n.2991_2993delinsAGG | |
| 13 | g.32337347G>A | CA387774612 | BRCA2 | c.2992G>A (p.Gly998Ser) c.2623G>A (p.Gly875Ser) n.2992G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337347G>C | CA6940651 | BRCA2 | c.2992G>C (p.Gly998Arg) c.2623G>C (p.Gly875Arg) n.2992G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337347G= | CA2082813495 | BRCA2 | c.2992G= (p.Gly998=) c.2623G= (p.Gly875=) n.2992G= | |
| 13 | g.32337347G>T | CA387774619 | BRCA2 | c.2992G>T (p.Gly998Cys) c.2623G>T (p.Gly875Cys) n.2992G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337347_32337348del | CA609453776 | BRCA2 | c.2992_2993del (p.Gly998SerfsTer10) c.2623_2624del (p.Gly875SerfsTer10) n.2992_2993del | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337348G>A | CA6940652 | BRCA2 | c.2993G>A (p.Gly998Asp) c.2624G>A (p.Gly875Asp) n.2993G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337348G>C | CA387774624 | BRCA2 | c.2993G>C (p.Gly998Ala) c.2624G>C (p.Gly875Ala) n.2993G>C | dbSNP |
| 13 | g.32337348G= | CA2082813500 | BRCA2 | c.2993G= (p.Gly998=) c.2624G= (p.Gly875=) n.2993G= | |
| 13 | g.32337348G>T | CA387774629 | BRCA2 | c.2993G>T (p.Gly998Val) c.2624G>T (p.Gly875Val) n.2993G>T | dbSNP |
| 13 | g.32337349del | CA2573149263 | BRCA2 | c.2994del (p.Pro999GlnfsTer?) c.2625del (p.Pro876GlnfsTer?) n.2994del | ClinVar dbSNP |
| 13 | g.32337349T>A | CA483437344 | BRCA2 | c.2994T>A (p.Gly998=) c.2625T>A (p.Gly875=) n.2994T>A | |
| 13 | g.32337349T>C | CA483437345 | BRCA2 | c.2994T>C (p.Gly998=) c.2625T>C (p.Gly875=) n.2994T>C | ClinVar |
| 13 | g.32337349T>G | CA6940653 | BRCA2 | c.2994T>G (p.Gly998=) c.2625T>G (p.Gly875=) n.2994T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337349T= | CA2082813508 | BRCA2 | c.2994T= (p.Gly998=) c.2625T= (p.Gly875=) n.2994T= | |
| 13 | g.32337350C>A | CA387774635 | BRCA2 | c.2995C>A (p.Pro999Thr) c.2626C>A (p.Pro876Thr) n.2995C>A | dbSNP |
| 13 | g.32337350C>G | CA387774637 | BRCA2 | c.2995C>G (p.Pro999Ala) c.2626C>G (p.Pro876Ala) n.2995C>G | ClinVar dbSNP |
| 13 | g.32337350C>T | CA387774641 | BRCA2 | c.2995C>T (p.Pro999Ser) c.2626C>T (p.Pro876Ser) n.2995C>T | dbSNP |
| 13 | g.32337350_32337351del | CA609453777 | BRCA2 | c.2995_2996del (p.Pro999AsnfsTer9) c.2626_2627del (p.Pro876AsnfsTer9) n.2995_2996del | gnomAD v2 gnomAD v4 |
| 13 | g.32337351C>A | CA387774651 | BRCA2 | c.2996C>A (p.Pro999Gln) c.2627C>A (p.Pro876Gln) n.2996C>A | |
| 13 | g.32337351C= | CA2082813517 | BRCA2 | c.2996C= (p.Pro999=) c.2627C= (p.Pro876=) n.2996C= | |
| 13 | g.32337351C>G | CA387774647 | BRCA2 | c.2996C>G (p.Pro999Arg) c.2627C>G (p.Pro876Arg) n.2996C>G | |
| 13 | g.32337351C>T | CA387774645 | BRCA2 | c.2996C>T (p.Pro999Leu) c.2627C>T (p.Pro876Leu) n.2996C>T | ClinVar dbSNP |
| 13 | g.32337352A= | CA2082813525 | BRCA2 | c.2997A= (p.Pro999=) c.2628A= (p.Pro876=) n.2997A= | |
| 13 | g.32337352A>C | CA247503507 | BRCA2 | c.2997A>C (p.Pro999=) c.2628A>C (p.Pro876=) n.2997A>C | dbSNP |
| 13 | g.32337352A>G | CA483437351 | BRCA2 | c.2997A>G (p.Pro999=) c.2628A>G (p.Pro876=) n.2997A>G | |
| 13 | g.32337352A>T | CA483437350 | BRCA2 | c.2997A>T (p.Pro999=) c.2628A>T (p.Pro876=) n.2997A>T | dbSNP |
| 13 | g.32337353A= | CA2082813547 | BRCA2 | c.2998A= (p.Ile1000=) c.2629A= (p.Ile877=) n.2998A= | |
| 13 | g.32337353A>C | CA387774658 | BRCA2 | c.2998A>C (p.Ile1000Leu) c.2629A>C (p.Ile877Leu) n.2998A>C | ClinVar dbSNP |
| 13 | g.32337353A>G | CA387774656 | BRCA2 | c.2998A>G (p.Ile1000Val) c.2629A>G (p.Ile877Val) n.2998A>G | ClinVar dbSNP |
| 13 | g.32337353A>T | CA387774657 | BRCA2 | c.2998A>T (p.Ile1000Phe) c.2629A>T (p.Ile877Phe) n.2998A>T | dbSNP |
| 13 | g.32337353_32337354delinsAT | CA2082813548 | BRCA2 | c.2998_2999delinsAT (p.Ile1000=) c.2629_2630delinsAT (p.Ile877=) n.2998_2999delinsAT | |
| 13 | g.32337354T>A | CA387774659 | BRCA2 | c.2999T>A (p.Ile1000Asn) c.2630T>A (p.Ile877Asn) n.2999T>A | dbSNP |
| 13 | g.32337354T>C | CA016996 | BRCA2 | c.2999T>C (p.Ile1000Thr) c.2630T>C (p.Ile877Thr) n.2999T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337354T>G | CA387774660 | BRCA2 | c.2999T>G (p.Ile1000Ser) c.2630T>G (p.Ile877Ser) n.2999T>G | |
| 13 | g.32337354T= | CA2082813560 | BRCA2 | c.2999T= (p.Ile1000=) c.2630T= (p.Ile877=) n.2999T= | |
| 13 | g.32337356dup | CA891844449 | BRCA2 | c.3001dup (p.Ser1001PhefsTer8) c.2632dup (p.Ser878PhefsTer8) n.3001dup | ClinVar dbSNP |
| 13 | g.32337356del | CA10575913 | BRCA2 | c.3001del (p.Ser1001GlnfsTer?) c.2632del (p.Ser878GlnfsTer?) n.3001del | ClinVar dbSNP |
| 13 | g.32337355T>A | CA017018 | BRCA2 | c.3000T>A (p.Ile1000=) c.2631T>A (p.Ile877=) n.3000T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337355T>C | CA483437356 | BRCA2 | c.3000T>C (p.Ile1000=) c.2631T>C (p.Ile877=) n.3000T>C | dbSNP gnomAD v4 |
| 13 | g.32337355T>G | CA10579561 | BRCA2 | c.3000T>G (p.Ile1000Met) c.2631T>G (p.Ile877Met) n.3000T>G | ClinVar dbSNP |
| 13 | g.32337355T= | CA2082813568 | BRCA2 | c.3000T= (p.Ile1000=) c.2631T= (p.Ile877=) n.3000T= | |
| 13 | g.32337356T>A | CA387774670 | BRCA2 | c.3001T>A (p.Ser1001Thr) c.2632T>A (p.Ser878Thr) n.3001T>A | dbSNP |
| 13 | g.32337356T>C | CA387774673 | BRCA2 | c.3001T>C (p.Ser1001Pro) c.2632T>C (p.Ser878Pro) n.3001T>C | dbSNP |
| 13 | g.32337356T>G | CA387774676 | BRCA2 | c.3001T>G (p.Ser1001Ala) c.2632T>G (p.Ser878Ala) n.3001T>G | ClinVar dbSNP |
| 13 | g.32337357C>A | CA387774685 | BRCA2 | c.3002C>A (p.Ser1001Ter) c.2633C>A (p.Ser878Ter) n.3002C>A | |
| 13 | g.32337357C= | CA2082813579 | BRCA2 | c.3002C= (p.Ser1001=) c.2633C= (p.Ser878=) n.3002C= | |
| 13 | g.32337357C>G | CA387774682 | BRCA2 | c.3002C>G (p.Ser1001Ter) c.2633C>G (p.Ser878Ter) n.3002C>G | ClinVar dbSNP |
| 13 | g.32337357C>T | CA387774680 | BRCA2 | c.3002C>T (p.Ser1001Leu) c.2633C>T (p.Ser878Leu) n.3002C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337358A= | CA2082813590 | BRCA2 | c.3003A= (p.Ser1001=) c.2634A= (p.Ser878=) n.3003A= | |
| 13 | g.32337358A>C | CA483437361 | BRCA2 | c.3003A>C (p.Ser1001=) c.2634A>C (p.Ser878=) n.3003A>C | ClinVar |
| 13 | g.32337358A>G | CA483437363 | BRCA2 | c.3003A>G (p.Ser1001=) c.2634A>G (p.Ser878=) n.3003A>G | |
| 13 | g.32337358A>T | CA017021 | BRCA2 | c.3003A>T (p.Ser1001=) c.2634A>T (p.Ser878=) n.3003A>T | ClinVar dbSNP |
| 13 | g.32337359A= | CA2082813597 | BRCA2 | c.3004A= (p.Asn1002=) c.2635A= (p.Asn879=) n.3004A= | |
| 13 | g.32337359A>C | CA387774689 | BRCA2 | c.3004A>C (p.Asn1002His) c.2635A>C (p.Asn879His) n.3004A>C | |
| 13 | g.32337359A>G | CA6940654 | BRCA2 | c.3004A>G (p.Asn1002Asp) c.2635A>G (p.Asn879Asp) n.3004A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337359A>T | CA387774695 | BRCA2 | c.3004A>T (p.Asn1002Tyr) c.2635A>T (p.Asn879Tyr) n.3004A>T | dbSNP |
| 13 | g.32337360A= | CA2082813603 | BRCA2 | c.3005A= (p.Asn1002=) c.2636A= (p.Asn879=) n.3005A= | |
| 13 | g.32337360A>C | CA017026 | BRCA2 | c.3005A>C (p.Asn1002Thr) c.2636A>C (p.Asn879Thr) n.3005A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337360A>G | CA387774699 | BRCA2 | c.3005A>G (p.Asn1002Ser) c.2636A>G (p.Asn879Ser) n.3005A>G | ClinVar |
| 13 | g.32337360A>T | CA387774702 | BRCA2 | c.3005A>T (p.Asn1002Ile) c.2636A>T (p.Asn879Ile) n.3005A>T | dbSNP |
| 13 | g.32337361T>A | CA387774704 | BRCA2 | c.3006T>A (p.Asn1002Lys) c.2637T>A (p.Asn879Lys) n.3006T>A | dbSNP |
| 13 | g.32337361T>C | CA483437366 | BRCA2 | c.3006T>C (p.Asn1002=) c.2637T>C (p.Asn879=) n.3006T>C | |
| 13 | g.32337361T>G | CA387774709 | BRCA2 | c.3006T>G (p.Asn1002Lys) c.2637T>G (p.Asn879Lys) n.3006T>G | dbSNP |
| 13 | g.32337361_32337363delinsTCA | CA2082813612 | BRCA2 | c.3006_3008delinsTCA (p.Asn1002=) c.2637_2639delinsTCA (p.Asn879=) n.3006_3008delinsTCA | |
| 13 | g.32337362C>A | CA387774711 | BRCA2 | c.3007C>A (p.His1003Asn) c.2638C>A (p.His880Asn) n.3007C>A | ClinVar dbSNP |
| 13 | g.32337362C= | CA2082813617 | BRCA2 | c.3007C= (p.His1003=) c.2638C= (p.His880=) n.3007C= | |
| 13 | g.32337362C>G | CA10583086 | BRCA2 | c.3007C>G (p.His1003Asp) c.2638C>G (p.His880Asp) n.3007C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337362C>T | CA387774715 | BRCA2 | c.3007C>T (p.His1003Tyr) c.2638C>T (p.His880Tyr) n.3007C>T | |
| 13 | g.32337364_32337365del | CA017031 | BRCA2 | c.3009_3010del (p.His1003GlnfsTer5) c.2640_2641del (p.His880GlnfsTer5) n.3009_3010del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337363A= | CA2082813639 | BRCA2 | c.3008A= (p.His1003=) c.2639A= (p.His880=) n.3008A= | |
| 13 | g.32337363A>C | CA387774723 | BRCA2 | c.3008A>C (p.His1003Pro) c.2639A>C (p.His880Pro) n.3008A>C | dbSNP |
| 13 | g.32337363A>G | CA387774719 | BRCA2 | c.3008A>G (p.His1003Arg) c.2639A>G (p.His880Arg) n.3008A>G | ClinVar dbSNP |
| 13 | g.32337363A>T | CA387774726 | BRCA2 | c.3008A>T (p.His1003Leu) c.2639A>T (p.His880Leu) n.3008A>T | dbSNP |
| 13 | g.32337364del | CA2695218024 | BRCA2 | c.3009del (p.His1003GlnfsTer?) c.2640del (p.His880GlnfsTer?) n.3009del | |
| 13 | g.32337364C>A | CA387774730 | BRCA2 | c.3009C>A (p.His1003Gln) c.2640C>A (p.His880Gln) n.3009C>A | ClinVar dbSNP |
| 13 | g.32337364C= | CA2082813655 | BRCA2 | c.3009C= (p.His1003=) c.2640C= (p.His880=) n.3009C= | |
| 13 | g.32337364C>G | CA387774733 | BRCA2 | c.3009C>G (p.His1003Gln) c.2640C>G (p.His880Gln) n.3009C>G | dbSNP |
| 13 | g.32337364C>T | CA483437374 | BRCA2 | c.3009C>T (p.His1003=) c.2640C>T (p.His880=) n.3009C>T | dbSNP gnomAD v4 |
| 13 | g.32337364_32337365delinsCA | CA2082813656 | BRCA2 | c.3009_3010delinsCA (p.His1003=) c.2640_2641delinsCA (p.His880=) n.3009_3010delinsCA | |
| 13 | g.32337365del | CA017044 | BRCA2 | c.3010del (p.Ser1004ValfsTer?) c.2641del (p.Ser881ValfsTer?) n.3010del | ClinVar dbSNP |
| 13 | g.32337365A= | CA2082813666 | BRCA2 | c.3010A= (p.Ser1004=) c.2641A= (p.Ser881=) n.3010A= | |
| 13 | g.32337365A>C | CA387774738 | BRCA2 | c.3010A>C (p.Ser1004Arg) c.2641A>C (p.Ser881Arg) n.3010A>C | ClinVar dbSNP |
| 13 | g.32337365A>G | CA017037 | BRCA2 | c.3010A>G (p.Ser1004Gly) c.2641A>G (p.Ser881Gly) n.3010A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32337365A>T | CA387774741 | BRCA2 | c.3010A>T (p.Ser1004Cys) c.2641A>T (p.Ser881Cys) n.3010A>T | dbSNP |