Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214727902_214727905delinsCTAA | CA1327045040 | BARD1 | c.*771_*774delinsTTAG (n.*771_*774delinsTTAG) n.3098_3101delinsTTAG n.3041_3044delinsTTAG n.2297_2300delinsTTAG n.3070_3073delinsTTAG n.3013_3016delinsTTAG n.2269_2272delinsTTAG | |
2 | g.214727903T>C | CA1327045043 | BARD1 | c.*773A>G (n.*773A>G) n.3100A>G n.3043A>G n.2299A>G n.3072A>G n.3015A>G n.2271A>G | dbSNP |
2 | g.214727903T= | CA1327045044 | BARD1 | c.*773A= (n.*773A=) n.3100A= n.3043A= n.2299A= n.3072A= n.3015A= n.2271A= | |
2 | g.214727903_214727905del | CA64792258 | BARD1 | c.*771_*773del (n.*771_*773del) n.3098_3100del n.3041_3043del n.2297_2299del n.3070_3072del n.3013_3015del n.2269_2271del | dbSNP |
2 | g.214727904A= | CA1327045045 | BARD1 | c.*772T= (n.*772T=) n.3099T= n.3042T= n.2298T= n.3071T= n.3014T= n.2270T= | |
2 | g.214727904A>G | CA64792259 | BARD1 | c.*772T>C (n.*772T>C) n.3099T>C n.3042T>C n.2298T>C n.3071T>C n.3014T>C n.2270T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727905del | CA2662970443 | BARD1 | c.*772del (n.*772del) n.3099del n.3042del n.2298del n.3071del n.3014del n.2270del | gnomAD v4 |
2 | g.214727905A= | CA1327045046 | BARD1 | c.*771T= (n.*771T=) n.3098T= n.3041T= n.2297T= n.3070T= n.3013T= n.2269T= | |
2 | g.214727905A>G | CA1327045047 | BARD1 | c.*771T>C (n.*771T>C) n.3098T>C n.3041T>C n.2297T>C n.3070T>C n.3013T>C n.2269T>C | dbSNP |
2 | g.214727906C>A | CA2662970444 | BARD1 | c.*770G>T (n.*770G>T) n.3097G>T n.3040G>T n.2296G>T n.3069G>T n.3012G>T n.2268G>T | gnomAD v4 |
2 | g.214727908T>C | CA1327045049 | BARD1 | c.*768A>G (n.*768A>G) n.3095A>G n.3038A>G n.2294A>G n.3067A>G n.3010A>G n.2266A>G | dbSNP |
2 | g.214727908T= | CA1327045048 | BARD1 | c.*768A= (n.*768A=) n.3095A= n.3038A= n.2294A= n.3067A= n.3010A= n.2266A= | |
2 | g.214727909T>C | CA2662970445 | BARD1 | c.*767A>G (n.*767A>G) n.3094A>G n.3037A>G n.2293A>G n.3066A>G n.3009A>G n.2265A>G | gnomAD v4 |
2 | g.214727909_214727910delinsTA | CA1327045050 | BARD1 | c.*766_*767delinsTA (n.*766_*767delinsTA) n.3093_3094delinsTA n.3036_3037delinsTA n.2292_2293delinsTA n.3065_3066delinsTA n.3008_3009delinsTA n.2264_2265delinsTA | |
2 | g.214727913del | CA764556747 | BARD1 | c.*766del (n.*766del) n.3093del n.3036del n.2292del n.3065del n.3008del n.2264del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727915G>T | CA2662970446 | BARD1 | c.*761C>A (n.*761C>A) n.3088C>A n.3031C>A n.2287C>A n.3060C>A n.3003C>A n.2259C>A | gnomAD v4 |
2 | g.214727917_214727918delinsGT | CA1327045051 | BARD1 | c.*758_*759delinsAC (n.*758_*759delinsAC) n.3085_3086delinsAC n.3028_3029delinsAC n.2284_2285delinsAC n.3057_3058delinsAC n.3000_3001delinsAC n.2256_2257delinsAC | |
2 | g.214727919del | CA1042200279 | BARD1 | c.*758del (n.*758del) n.3085del n.3028del n.2284del n.3057del n.3000del n.2256del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727919T>C | CA1327045053 | BARD1 | c.*757A>G (n.*757A>G) n.3084A>G n.3027A>G n.2283A>G n.3056A>G n.2999A>G n.2255A>G | dbSNP |
2 | g.214727919T= | CA1327045052 | BARD1 | c.*757A= (n.*757A=) n.3084A= n.3027A= n.2283A= n.3056A= n.2999A= n.2255A= | |
2 | g.214727923_214727924del | CA2740366919 | BARD1 | c.*755_*756del (n.*755_*756del) n.3082_3083del n.3025_3026del n.2281_2282del n.3054_3055del n.2997_2998del n.2253_2254del | |
2 | g.214727921G>T | CA2662970447 | BARD1 | c.*755C>A (n.*755C>A) n.3082C>A n.3025C>A n.2281C>A n.3054C>A n.2997C>A n.2253C>A | gnomAD v4 |
2 | g.214727923G>C | CA1327045055 | BARD1 | c.*753C>G (n.*753C>G) n.3080C>G n.3023C>G n.2279C>G n.3052C>G n.2995C>G n.2251C>G | dbSNP |
2 | g.214727923G= | CA1327045054 | BARD1 | c.*753C= (n.*753C=) n.3080C= n.3023C= n.2279C= n.3052C= n.2995C= n.2251C= | |
2 | g.214727923G>T | CA2754202643 | BARD1 | c.*753C>A (n.*753C>A) n.3080C>A n.3023C>A n.2279C>A n.3052C>A n.2995C>A n.2251C>A | |
2 | g.214727927dup | CA539534689 | BARD1 | c.*752dup (n.*752dup) n.3079dup n.3022dup n.2278dup n.3051dup n.2994dup n.2250dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727926A>G | CA2662970448 | BARD1 | c.*750T>C (n.*750T>C) n.3077T>C n.3020T>C n.2276T>C n.3049T>C n.2992T>C n.2248T>C | gnomAD v4 |
2 | g.214727929G>T | CA2662970449 | BARD1 | c.*747C>A (n.*747C>A) n.3074C>A n.3017C>A n.2273C>A n.3046C>A n.2989C>A n.2245C>A | gnomAD v4 |
2 | g.214727930C>A | CA2529992170 | BARD1 | c.*746G>T (n.*746G>T) n.3073G>T n.3016G>T n.2272G>T n.3045G>T n.2988G>T n.2244G>T | gnomAD v4 |
2 | g.214727930C= | CA1327045056 | BARD1 | c.*746G= (n.*746G=) n.3073G= n.3016G= n.2272G= n.3045G= n.2988G= n.2244G= | |
2 | g.214727930C>T | CA1327045057 | BARD1 | c.*746G>A (n.*746G>A) n.3073G>A n.3016G>A n.2272G>A n.3045G>A n.2988G>A n.2244G>A | dbSNP |
2 | g.214727932C>A | CA64792261 | BARD1 | c.*744G>T (n.*744G>T) n.3071G>T n.3014G>T n.2270G>T n.3043G>T n.2986G>T n.2242G>T | dbSNP |
2 | g.214727932C= | CA1327045058 | BARD1 | c.*744G= (n.*744G=) n.3071G= n.3014G= n.2270G= n.3043G= n.2986G= n.2242G= | |
2 | g.214727932C>G | CA2662970450 | BARD1 | c.*744G>C (n.*744G>C) n.3071G>C n.3014G>C n.2270G>C n.3043G>C n.2986G>C n.2242G>C | gnomAD v4 |
2 | g.214727934A>G | CA2552409167 | BARD1 | c.*742T>C (n.*742T>C) n.3069T>C n.3012T>C n.2268T>C n.3041T>C n.2984T>C n.2240T>C | |
2 | g.214727935A= | CA1327045059 | BARD1 | c.*741T= (n.*741T=) n.3068T= n.3011T= n.2267T= n.3040T= n.2983T= n.2239T= | |
2 | g.214727935A>G | CA539534691 | BARD1 | c.*741T>C (n.*741T>C) n.3068T>C n.3011T>C n.2267T>C n.3040T>C n.2983T>C n.2239T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727936G>A | CA539534692 | BARD1 | c.*740C>T (n.*740C>T) n.3067C>T n.3010C>T n.2266C>T n.3039C>T n.2982C>T n.2238C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727936G= | CA1327045060 | BARD1 | c.*740C= (n.*740C=) n.3067C= n.3010C= n.2266C= n.3039C= n.2982C= n.2238C= | |
2 | g.214727936G>T | CA2662970451 | BARD1 | c.*740C>A (n.*740C>A) n.3067C>A n.3010C>A n.2266C>A n.3039C>A n.2982C>A n.2238C>A | gnomAD v4 |
2 | g.214727937T>C | CA2662970452 | BARD1 | c.*739A>G (n.*739A>G) n.3066A>G n.3009A>G n.2265A>G n.3038A>G n.2981A>G n.2237A>G | gnomAD v4 |
2 | g.214727938A= | CA1327045061 | BARD1 | c.*738T= (n.*738T=) n.3065T= n.3008T= n.2264T= n.3037T= n.2980T= n.2236T= | |
2 | g.214727938A>G | CA64792263 | BARD1 | c.*738T>C (n.*738T>C) n.3065T>C n.3008T>C n.2264T>C n.3037T>C n.2980T>C n.2236T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727943T>C | CA2607394522 | BARD1 | c.*733A>G (n.*733A>G) n.3060A>G n.3003A>G n.2259A>G n.3032A>G n.2975A>G n.2231A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727945C>A | CA2662970453 | BARD1 | c.*731G>T (n.*731G>T) n.3058G>T n.3001G>T n.2257G>T n.3030G>T n.2973G>T n.2229G>T | gnomAD v4 |
2 | g.214727947C>T | CA2701481472 | BARD1 | c.*729G>A (n.*729G>A) n.3056G>A n.2999G>A n.2255G>A n.3028G>A n.2971G>A n.2227G>A | dbSNP |
2 | g.214727947_214727949delinsCAT | CA1327045062 | BARD1 | c.*727_*729delinsATG (n.*727_*729delinsATG) n.3054_3056delinsATG n.2997_2999delinsATG n.2253_2255delinsATG n.3026_3028delinsATG n.2969_2971delinsATG n.2225_2227delinsATG | |
2 | g.214727948_214727949del | CA1042200287 | BARD1 | c.*727_*728del (n.*727_*728del) n.3054_3055del n.2997_2998del n.2253_2254del n.3026_3027del n.2969_2970del n.2225_2226del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727949T>C | CA64792265 | BARD1 | c.*727A>G (n.*727A>G) n.3054A>G n.2997A>G n.2253A>G n.3026A>G n.2969A>G n.2225A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727949T= | CA1327045063 | BARD1 | c.*727A= (n.*727A=) n.3054A= n.2997A= n.2253A= n.3026A= n.2969A= n.2225A= | |
2 | g.214727951T>C | CA539534696 | BARD1 | c.*725A>G (n.*725A>G) n.3052A>G n.2995A>G n.2251A>G n.3024A>G n.2967A>G n.2223A>G | dbSNP gnomAD v2 |
2 | g.214727951T= | CA1327045064 | BARD1 | c.*725A= (n.*725A=) n.3052A= n.2995A= n.2251A= n.3024A= n.2967A= n.2223A= | |
2 | g.214727953G>A | CA764556755 | BARD1 | c.*723C>T (n.*723C>T) n.3050C>T n.2993C>T n.2249C>T n.3022C>T n.2965C>T n.2221C>T | dbSNP gnomAD v4 |
2 | g.214727953G= | CA1327045065 | BARD1 | c.*723C= (n.*723C=) n.3050C= n.2993C= n.2249C= n.3022C= n.2965C= n.2221C= | |
2 | g.214727954T>C | CA764556758 | BARD1 | c.*722A>G (n.*722A>G) n.3049A>G n.2992A>G n.2248A>G n.3021A>G n.2964A>G n.2220A>G | dbSNP |
2 | g.214727954T= | CA1327045066 | BARD1 | c.*722A= (n.*722A=) n.3049A= n.2992A= n.2248A= n.3021A= n.2964A= n.2220A= | |
2 | g.214727955A>G | CA2662970455 | BARD1 | c.*721T>C (n.*721T>C) n.3048T>C n.2991T>C n.2247T>C n.3020T>C n.2963T>C n.2219T>C | gnomAD v4 |
2 | g.214727960_214727962delinsAAC | CA1327045067 | BARD1 | c.*714_*716delinsGTT (n.*714_*716delinsGTT) n.3041_3043delinsGTT n.2984_2986delinsGTT n.2240_2242delinsGTT n.3013_3015delinsGTT n.2956_2958delinsGTT n.2212_2214delinsGTT | |
2 | g.214727962_214727963del | CA764556762 | BARD1 | c.*714_*715del (n.*714_*715del) n.3041_3042del n.2984_2985del n.2240_2241del n.3013_3014del n.2956_2957del n.2212_2213del | dbSNP |
2 | g.214727962C>A | CA2662970456 | BARD1 | c.*714G>T (n.*714G>T) n.3041G>T n.2984G>T n.2240G>T n.3013G>T n.2956G>T n.2212G>T | gnomAD v4 |
2 | g.214727962_214727964delinsCAG | CA1327045068 | BARD1 | c.*712_*714delinsCTG (n.*712_*714delinsCTG) n.3039_3041delinsCTG n.2982_2984delinsCTG n.2238_2240delinsCTG n.3011_3013delinsCTG n.2954_2956delinsCTG n.2210_2212delinsCTG | |
2 | g.214727965_214727966del | CA764556764 | BARD1 | c.*712_*713del (n.*712_*713del) n.3039_3040del n.2982_2983del n.2238_2239del n.3011_3012del n.2954_2955del n.2210_2211del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727964G= | CA1327045069 | BARD1 | c.*712C= (n.*712C=) n.3039C= n.2982C= n.2238C= n.3011C= n.2954C= n.2210C= | |
2 | g.214727964G>T | CA1042200291 | BARD1 | c.*712C>A (n.*712C>A) n.3039C>A n.2982C>A n.2238C>A n.3011C>A n.2954C>A n.2210C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727965A= | CA1327045070 | BARD1 | c.*711T= (n.*711T=) n.3038T= n.2981T= n.2237T= n.3010T= n.2953T= n.2209T= | |
2 | g.214727965A>G | CA539534699 | BARD1 | c.*711T>C (n.*711T>C) n.3038T>C n.2981T>C n.2237T>C n.3010T>C n.2953T>C n.2209T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727966G>C | CA64792269 | BARD1 | c.*710C>G (n.*710C>G) n.3037C>G n.2980C>G n.2236C>G n.3009C>G n.2952C>G n.2208C>G | dbSNP |
2 | g.214727966G= | CA1327045071 | BARD1 | c.*710C= (n.*710C=) n.3037C= n.2980C= n.2236C= n.3009C= n.2952C= n.2208C= | |
2 | g.214727966G>T | CA2662970457 | BARD1 | c.*710C>A (n.*710C>A) n.3037C>A n.2980C>A n.2236C>A n.3009C>A n.2952C>A n.2208C>A | gnomAD v4 |
2 | g.214727970C>A | CA1042200299 | BARD1 | c.*706G>T (n.*706G>T) n.3033G>T n.2976G>T n.2232G>T n.3005G>T n.2948G>T n.2204G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727970C= | CA1327045072 | BARD1 | c.*706G= (n.*706G=) n.3033G= n.2976G= n.2232G= n.3005G= n.2948G= n.2204G= | |
2 | g.214727974T>C | CA764556784 | BARD1 | c.*702A>G (n.*702A>G) n.3029A>G n.2972A>G n.2228A>G n.3001A>G n.2944A>G n.2200A>G | dbSNP gnomAD v4 |
2 | g.214727974T= | CA1327045073 | BARD1 | c.*702A= (n.*702A=) n.3029A= n.2972A= n.2228A= n.3001A= n.2944A= n.2200A= | |
2 | g.214727978T>C | CA1042200308 | BARD1 | c.*698A>G (n.*698A>G) n.3025A>G n.2968A>G n.2224A>G n.2997A>G n.2940A>G n.2196A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727978T= | CA1327045074 | BARD1 | c.*698A= (n.*698A=) n.3025A= n.2968A= n.2224A= n.2997A= n.2940A= n.2196A= | |
2 | g.214727984C= | CA1327045075 | BARD1 | c.*692G= (n.*692G=) n.3019G= n.2962G= n.2218G= n.2991G= n.2934G= n.2190G= | |
2 | g.214727984C>T | CA539534700 | BARD1 | c.*692G>A (n.*692G>A) n.3019G>A n.2962G>A n.2218G>A n.2991G>A n.2934G>A n.2190G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727985A= | CA1327045076 | BARD1 | c.*691T= (n.*691T=) n.3018T= n.2961T= n.2217T= n.2990T= n.2933T= n.2189T= | |
2 | g.214727985A>G | CA1042200313 | BARD1 | c.*691T>C (n.*691T>C) n.3018T>C n.2961T>C n.2217T>C n.2990T>C n.2933T>C n.2189T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727991_214728680delinsATGTACAGAATAAAAATATGTACCATGAGCCTAGTGTTGATTTTTACCACACACACAAAAAAACCAATGTTAATGATTAAATCACAATTTCCTGATGATATACAAGATAAAAAACAGGGATGAAAGTGTAGAAACACACAACAAAGTAAATTATTAAGAAAAGAAATGAACACAATATAGGATAAAGACAATTGCAGATAGGAGAATTTAACACCTATGGTGGCACATTTAGACCAAATACTCTTTTTTCAATAAAGCCAAAATAAATTGTTTGATAATATTCTGTTTACTAAAAAAAAAAAAAAAAAAAAGGCAAGTTTTTTCACTGGTGGCAGGTATGGAGAATATTAAAAGACTCAAACAGTAATGATACCACTTGTCTATTTAACCAAGATTCTGGTGTCCTCATTAATCTTTGATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGC | CA1327045077 | BARD1 | c.2330_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2330_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser777=]) c.920_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.920_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser307=]) c.977_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.977_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser326=]) c.2273_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2273_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser758=]) c.791_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.791_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser264=]) n.2323_3012delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.2266_2955delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.1522_2211delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT c.2276_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2276_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser759=]) c.2429_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2429_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser810=]) n.2295_2984delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.2238_2927delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.1494_2183delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT | |
2 | g.214727992T>C | CA2662970459 | BARD1 | c.*684A>G (n.*684A>G) n.3011A>G n.2954A>G n.2210A>G n.2983A>G n.2926A>G n.2182A>G | gnomAD v4 |
2 | g.214727995_214728683del | CA1139657666 | BARD1 | c.2330_*684del (n.[c.2330_*684del;Ser777IlefsTer4]) c.920_*684del (n.[c.920_*684del;Ser307IlefsTer4]) c.977_*684del (n.[c.977_*684del;Ser326IlefsTer4]) c.2273_*684del (n.[c.2273_*684del;Ser758IlefsTer4]) c.791_*684del (n.[c.791_*684del;Ser264IlefsTer4]) n.2323_3011del n.2266_2954del n.1522_2210del c.2276_*684del (n.[c.2276_*684del;Ser759IlefsTer4]) c.2429_*684del (n.[c.2429_*684del;Ser810IlefsTer4]) n.2295_2983del n.2238_2926del n.1494_2182del | ClinVar dbSNP |
2 | g.214727993G>C | CA1327045079 | BARD1 | c.*683C>G (n.*683C>G) n.3010C>G n.2953C>G n.2209C>G n.2982C>G n.2925C>G n.2181C>G | dbSNP |
2 | g.214727993G= | CA1327045078 | BARD1 | c.*683C= (n.*683C=) n.3010C= n.2953C= n.2209C= n.2982C= n.2925C= n.2181C= | |
2 | g.214727995A= | CA1327045080 | BARD1 | c.*681T= (n.*681T=) n.3008T= n.2951T= n.2207T= n.2980T= n.2923T= n.2179T= | |
2 | g.214727995A>G | CA539534701 | BARD1 | c.*681T>C (n.*681T>C) n.3008T>C n.2951T>C n.2207T>C n.2980T>C n.2923T>C n.2179T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214727996C>A | CA2662970460 | BARD1 | c.*680G>T (n.*680G>T) n.3007G>T n.2950G>T n.2206G>T n.2979G>T n.2922G>T n.2178G>T | gnomAD v4 |
2 | g.214727996C>T | CA2754202645 | BARD1 | c.*680G>A (n.*680G>A) n.3007G>A n.2950G>A n.2206G>A n.2979G>A n.2922G>A n.2178G>A | |
2 | g.214727998G>A | CA764556791 | BARD1 | c.*678C>T (n.*678C>T) n.3005C>T n.2948C>T n.2204C>T n.2977C>T n.2920C>T n.2176C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214727998G= | CA1327045081 | BARD1 | c.*678C= (n.*678C=) n.3005C= n.2948C= n.2204C= n.2977C= n.2920C= n.2176C= | |
2 | g.214728001T>C | CA539534703 | BARD1 | c.*675A>G (n.*675A>G) n.3002A>G n.2945A>G n.2201A>G n.2974A>G n.2917A>G n.2173A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728001T= | CA1327045082 | BARD1 | c.*675A= (n.*675A=) n.3002A= n.2945A= n.2201A= n.2974A= n.2917A= n.2173A= | |
2 | g.214728003A>T | CA2662970461 | BARD1 | c.*673T>A (n.*673T>A) n.3000T>A n.2943T>A n.2199T>A n.2972T>A n.2915T>A n.2171T>A | gnomAD v4 |