WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.9726985A= | CA1152936932 | PIK3CD | c.*2328A= (n.*2328A=) c.2978A= (p.Glu993=) c.3071A= (p.Glu1024=) c.3074A= (p.Glu1025=) c.2930A= (p.Glu977=) c.3062A= (p.Glu1021=) n.2235A= c.3146A= (p.Glu1049=) c.2987A= (p.Glu996=) c.2426A= (p.Glu809=) n.3159A= c.3251A= (p.Glu1084=) c.3164A= (p.Glu1055=) | |
| 1 | g.9726985A>C | CA338308869 | PIK3CD | c.*2328A>C (n.*2328A>C) c.2978A>C (p.Glu993Ala) c.3071A>C (p.Glu1024Ala) c.3074A>C (p.Glu1025Ala) c.2930A>C (p.Glu977Ala) c.3062A>C (p.Glu1021Ala) n.2235A>C c.3146A>C (p.Glu1049Ala) c.2987A>C (p.Glu996Ala) c.2426A>C (p.Glu809Ala) n.3159A>C c.3251A>C (p.Glu1084Ala) c.3164A>C (p.Glu1055Ala) | |
| 1 | g.9726985A>G | CA16617216 | PIK3CD | c.*2328A>G (n.*2328A>G) c.2978A>G (p.Glu993Gly) c.3071A>G (p.Glu1024Gly) c.3074A>G (p.Glu1025Gly) c.2930A>G (p.Glu977Gly) c.3062A>G (p.Glu1021Gly) n.2235A>G c.3146A>G (p.Glu1049Gly) c.2987A>G (p.Glu996Gly) c.2426A>G (p.Glu809Gly) n.3159A>G c.3251A>G (p.Glu1084Gly) c.3164A>G (p.Glu1055Gly) | ClinVar dbSNP |
| 1 | g.9726985A>T | CA338308870 | PIK3CD | c.*2328A>T (n.*2328A>T) c.2978A>T (p.Glu993Val) c.3071A>T (p.Glu1024Val) c.3074A>T (p.Glu1025Val) c.2930A>T (p.Glu977Val) c.3062A>T (p.Glu1021Val) n.2235A>T c.3146A>T (p.Glu1049Val) c.2987A>T (p.Glu996Val) c.2426A>T (p.Glu809Val) n.3159A>T c.3251A>T (p.Glu1084Val) c.3164A>T (p.Glu1055Val) | |
| 1 | g.9726986G>A | CA415876078 | PIK3CD | c.*2329G>A (n.*2329G>A) c.2979G>A (p.Glu993=) c.3072G>A (p.Glu1024=) c.3075G>A (p.Glu1025=) c.2931G>A (p.Glu977=) c.3063G>A (p.Glu1021=) n.2236G>A c.3147G>A (p.Glu1049=) c.2988G>A (p.Glu996=) c.2427G>A (p.Glu809=) n.3160G>A c.3252G>A (p.Glu1084=) c.3165G>A (p.Glu1055=) | |
| 1 | g.9726986G>C | CA338308872 | PIK3CD | c.*2329G>C (n.*2329G>C) c.2979G>C (p.Glu993Asp) c.3072G>C (p.Glu1024Asp) c.3075G>C (p.Glu1025Asp) c.2931G>C (p.Glu977Asp) c.3063G>C (p.Glu1021Asp) n.2236G>C c.3147G>C (p.Glu1049Asp) c.2988G>C (p.Glu996Asp) c.2427G>C (p.Glu809Asp) n.3160G>C c.3252G>C (p.Glu1084Asp) c.3165G>C (p.Glu1055Asp) | gnomAD v4 |
| 1 | g.9726986G>T | CA338308871 | PIK3CD | c.*2329G>T (n.*2329G>T) c.2979G>T (p.Glu993Asp) c.3072G>T (p.Glu1024Asp) c.3075G>T (p.Glu1025Asp) c.2931G>T (p.Glu977Asp) c.3063G>T (p.Glu1021Asp) n.2236G>T c.3147G>T (p.Glu1049Asp) c.2988G>T (p.Glu996Asp) c.2427G>T (p.Glu809Asp) n.3160G>T c.3252G>T (p.Glu1084Asp) c.3165G>T (p.Glu1055Asp) | |
| 1 | g.9726987A>C | CA338308873 | PIK3CD | c.*2330A>C (n.*2330A>C) c.2980A>C (p.Ser994Arg) c.3073A>C (p.Ser1025Arg) c.3076A>C (p.Ser1026Arg) c.2932A>C (p.Ser978Arg) c.3064A>C (p.Ser1022Arg) n.2237A>C c.3148A>C (p.Ser1050Arg) c.2989A>C (p.Ser997Arg) c.2428A>C (p.Ser810Arg) n.3161A>C c.3253A>C (p.Ser1085Arg) c.3166A>C (p.Ser1056Arg) | |
| 1 | g.9726987A>G | CA338308874 | PIK3CD | c.*2330A>G (n.*2330A>G) c.2980A>G (p.Ser994Gly) c.3073A>G (p.Ser1025Gly) c.3076A>G (p.Ser1026Gly) c.2932A>G (p.Ser978Gly) c.3064A>G (p.Ser1022Gly) n.2237A>G c.3148A>G (p.Ser1050Gly) c.2989A>G (p.Ser997Gly) c.2428A>G (p.Ser810Gly) n.3161A>G c.3253A>G (p.Ser1085Gly) c.3166A>G (p.Ser1056Gly) | |
| 1 | g.9726987A>T | CA338308875 | PIK3CD | c.*2330A>T (n.*2330A>T) c.2980A>T (p.Ser994Cys) c.3073A>T (p.Ser1025Cys) c.3076A>T (p.Ser1026Cys) c.2932A>T (p.Ser978Cys) c.3064A>T (p.Ser1022Cys) n.2237A>T c.3148A>T (p.Ser1050Cys) c.2989A>T (p.Ser997Cys) c.2428A>T (p.Ser810Cys) n.3161A>T c.3253A>T (p.Ser1085Cys) c.3166A>T (p.Ser1056Cys) | |
| 1 | g.9726988G>A | CA338308876 | PIK3CD | c.*2331G>A (n.*2331G>A) c.2981G>A (p.Ser994Asn) c.3074G>A (p.Ser1025Asn) c.3077G>A (p.Ser1026Asn) c.2933G>A (p.Ser978Asn) c.3065G>A (p.Ser1022Asn) n.2238G>A c.3149G>A (p.Ser1050Asn) c.2990G>A (p.Ser997Asn) c.2429G>A (p.Ser810Asn) n.3162G>A c.3254G>A (p.Ser1085Asn) c.3167G>A (p.Ser1056Asn) | |
| 1 | g.9726988G>C | CA338308877 | PIK3CD | c.*2331G>C (n.*2331G>C) c.2981G>C (p.Ser994Thr) c.3074G>C (p.Ser1025Thr) c.3077G>C (p.Ser1026Thr) c.2933G>C (p.Ser978Thr) c.3065G>C (p.Ser1022Thr) n.2238G>C c.3149G>C (p.Ser1050Thr) c.2990G>C (p.Ser997Thr) c.2429G>C (p.Ser810Thr) n.3162G>C c.3254G>C (p.Ser1085Thr) c.3167G>C (p.Ser1056Thr) | |
| 1 | g.9726988G>T | CA338308878 | PIK3CD | c.*2331G>T (n.*2331G>T) c.2981G>T (p.Ser994Ile) c.3074G>T (p.Ser1025Ile) c.3077G>T (p.Ser1026Ile) c.2933G>T (p.Ser978Ile) c.3065G>T (p.Ser1022Ile) n.2238G>T c.3149G>T (p.Ser1050Ile) c.2990G>T (p.Ser997Ile) c.2429G>T (p.Ser810Ile) n.3162G>T c.3254G>T (p.Ser1085Ile) c.3167G>T (p.Ser1056Ile) | |
| 1 | g.9726989C>A | CA338308880 | PIK3CD | c.*2332C>A (n.*2332C>A) c.2982C>A (p.Ser994Arg) c.3075C>A (p.Ser1025Arg) c.3078C>A (p.Ser1026Arg) c.2934C>A (p.Ser978Arg) c.3066C>A (p.Ser1022Arg) n.2239C>A c.3150C>A (p.Ser1050Arg) c.2991C>A (p.Ser997Arg) c.2430C>A (p.Ser810Arg) n.3163C>A c.3255C>A (p.Ser1085Arg) c.3168C>A (p.Ser1056Arg) | |
| 1 | g.9726989C>G | CA338308879 | PIK3CD | c.*2332C>G (n.*2332C>G) c.2982C>G (p.Ser994Arg) c.3075C>G (p.Ser1025Arg) c.3078C>G (p.Ser1026Arg) c.2934C>G (p.Ser978Arg) c.3066C>G (p.Ser1022Arg) n.2239C>G c.3150C>G (p.Ser1050Arg) c.2991C>G (p.Ser997Arg) c.2430C>G (p.Ser810Arg) n.3163C>G c.3255C>G (p.Ser1085Arg) c.3168C>G (p.Ser1056Arg) | |
| 1 | g.9726989C>T | CA415876079 | PIK3CD | c.*2332C>T (n.*2332C>T) c.2982C>T (p.Ser994=) c.3075C>T (p.Ser1025=) c.3078C>T (p.Ser1026=) c.2934C>T (p.Ser978=) c.3066C>T (p.Ser1022=) n.2239C>T c.3150C>T (p.Ser1050=) c.2991C>T (p.Ser997=) c.2430C>T (p.Ser810=) n.3163C>T c.3255C>T (p.Ser1085=) c.3168C>T (p.Ser1056=) | |
| 1 | g.9726990T>A | CA338308881 | PIK3CD | c.*2333T>A (n.*2333T>A) c.2983T>A (p.Trp995Arg) c.3076T>A (p.Trp1026Arg) c.3079T>A (p.Trp1027Arg) c.2935T>A (p.Trp979Arg) c.3067T>A (p.Trp1023Arg) n.2240T>A c.3151T>A (p.Trp1051Arg) c.2992T>A (p.Trp998Arg) c.2431T>A (p.Trp811Arg) n.3164T>A c.3256T>A (p.Trp1086Arg) c.3169T>A (p.Trp1057Arg) | |
| 1 | g.9726990T>C | CA338308882 | PIK3CD | c.*2333T>C (n.*2333T>C) c.2983T>C (p.Trp995Arg) c.3076T>C (p.Trp1026Arg) c.3079T>C (p.Trp1027Arg) c.2935T>C (p.Trp979Arg) c.3067T>C (p.Trp1023Arg) n.2240T>C c.3151T>C (p.Trp1051Arg) c.2992T>C (p.Trp998Arg) c.2431T>C (p.Trp811Arg) n.3164T>C c.3256T>C (p.Trp1086Arg) c.3169T>C (p.Trp1057Arg) | |
| 1 | g.9726990T>G | CA338308883 | PIK3CD | c.*2333T>G (n.*2333T>G) c.2983T>G (p.Trp995Gly) c.3076T>G (p.Trp1026Gly) c.3079T>G (p.Trp1027Gly) c.2935T>G (p.Trp979Gly) c.3067T>G (p.Trp1023Gly) n.2240T>G c.3151T>G (p.Trp1051Gly) c.2992T>G (p.Trp998Gly) c.2431T>G (p.Trp811Gly) n.3164T>G c.3256T>G (p.Trp1086Gly) c.3169T>G (p.Trp1057Gly) | |
| 1 | g.9726991G>A | CA338308884 | PIK3CD | c.*2334G>A (n.*2334G>A) c.2984G>A (p.Trp995Ter) c.3077G>A (p.Trp1026Ter) c.3080G>A (p.Trp1027Ter) c.2936G>A (p.Trp979Ter) c.3068G>A (p.Trp1023Ter) n.2241G>A c.3152G>A (p.Trp1051Ter) c.2993G>A (p.Trp998Ter) c.2432G>A (p.Trp811Ter) n.3165G>A c.3257G>A (p.Trp1086Ter) c.3170G>A (p.Trp1057Ter) | |
| 1 | g.9726991G>C | CA338308885 | PIK3CD | c.*2334G>C (n.*2334G>C) c.2984G>C (p.Trp995Ser) c.3077G>C (p.Trp1026Ser) c.3080G>C (p.Trp1027Ser) c.2936G>C (p.Trp979Ser) c.3068G>C (p.Trp1023Ser) n.2241G>C c.3152G>C (p.Trp1051Ser) c.2993G>C (p.Trp998Ser) c.2432G>C (p.Trp811Ser) n.3165G>C c.3257G>C (p.Trp1086Ser) c.3170G>C (p.Trp1057Ser) | |
| 1 | g.9726991G>T | CA338308886 | PIK3CD | c.*2334G>T (n.*2334G>T) c.2984G>T (p.Trp995Leu) c.3077G>T (p.Trp1026Leu) c.3080G>T (p.Trp1027Leu) c.2936G>T (p.Trp979Leu) c.3068G>T (p.Trp1023Leu) n.2241G>T c.3152G>T (p.Trp1051Leu) c.2993G>T (p.Trp998Leu) c.2432G>T (p.Trp811Leu) n.3165G>T c.3257G>T (p.Trp1086Leu) c.3170G>T (p.Trp1057Leu) | |
| 1 | g.9726992G>A | CA338308889 | PIK3CD | c.*2335G>A (n.*2335G>A) c.2985G>A (p.Trp995Ter) c.3078G>A (p.Trp1026Ter) c.3081G>A (p.Trp1027Ter) c.2937G>A (p.Trp979Ter) c.3069G>A (p.Trp1023Ter) n.2242G>A c.3153G>A (p.Trp1051Ter) c.2994G>A (p.Trp998Ter) c.2433G>A (p.Trp811Ter) n.3166G>A c.3258G>A (p.Trp1086Ter) c.3171G>A (p.Trp1057Ter) | |
| 1 | g.9726992G>C | CA338308888 | PIK3CD | c.*2335G>C (n.*2335G>C) c.2985G>C (p.Trp995Cys) c.3078G>C (p.Trp1026Cys) c.3081G>C (p.Trp1027Cys) c.2937G>C (p.Trp979Cys) c.3069G>C (p.Trp1023Cys) n.2242G>C c.3153G>C (p.Trp1051Cys) c.2994G>C (p.Trp998Cys) c.2433G>C (p.Trp811Cys) n.3166G>C c.3258G>C (p.Trp1086Cys) c.3171G>C (p.Trp1057Cys) | |
| 1 | g.9726992G>T | CA338308887 | PIK3CD | c.*2335G>T (n.*2335G>T) c.2985G>T (p.Trp995Cys) c.3078G>T (p.Trp1026Cys) c.3081G>T (p.Trp1027Cys) c.2937G>T (p.Trp979Cys) c.3069G>T (p.Trp1023Cys) n.2242G>T c.3153G>T (p.Trp1051Cys) c.2994G>T (p.Trp998Cys) c.2433G>T (p.Trp811Cys) n.3166G>T c.3258G>T (p.Trp1086Cys) c.3171G>T (p.Trp1057Cys) | |
| 1 | g.9726993A>C | CA338308890 | PIK3CD | c.*2336A>C (n.*2336A>C) c.2986A>C (p.Lys996Gln) c.3079A>C (p.Lys1027Gln) c.3082A>C (p.Lys1028Gln) c.2938A>C (p.Lys980Gln) c.3070A>C (p.Lys1024Gln) n.2243A>C c.3154A>C (p.Lys1052Gln) c.2995A>C (p.Lys999Gln) c.2434A>C (p.Lys812Gln) n.3167A>C c.3259A>C (p.Lys1087Gln) c.3172A>C (p.Lys1058Gln) | |
| 1 | g.9726993A>G | CA338308891 | PIK3CD | c.*2336A>G (n.*2336A>G) c.2986A>G (p.Lys996Glu) c.3079A>G (p.Lys1027Glu) c.3082A>G (p.Lys1028Glu) c.2938A>G (p.Lys980Glu) c.3070A>G (p.Lys1024Glu) n.2243A>G c.3154A>G (p.Lys1052Glu) c.2995A>G (p.Lys999Glu) c.2434A>G (p.Lys812Glu) n.3167A>G c.3259A>G (p.Lys1087Glu) c.3172A>G (p.Lys1058Glu) | |
| 1 | g.9726993A>T | CA338308892 | PIK3CD | c.*2336A>T (n.*2336A>T) c.2986A>T (p.Lys996Ter) c.3079A>T (p.Lys1027Ter) c.3082A>T (p.Lys1028Ter) c.2938A>T (p.Lys980Ter) c.3070A>T (p.Lys1024Ter) n.2243A>T c.3154A>T (p.Lys1052Ter) c.2995A>T (p.Lys999Ter) c.2434A>T (p.Lys812Ter) n.3167A>T c.3259A>T (p.Lys1087Ter) c.3172A>T (p.Lys1058Ter) | |
| 1 | g.9726994A>C | CA338308893 | PIK3CD | c.*2337A>C (n.*2337A>C) c.2987A>C (p.Lys996Thr) c.3080A>C (p.Lys1027Thr) c.3083A>C (p.Lys1028Thr) c.2939A>C (p.Lys980Thr) c.3071A>C (p.Lys1024Thr) n.2244A>C c.3155A>C (p.Lys1052Thr) c.2996A>C (p.Lys999Thr) c.2435A>C (p.Lys812Thr) n.3168A>C c.3260A>C (p.Lys1087Thr) c.3173A>C (p.Lys1058Thr) | |
| 1 | g.9726994A>G | CA338308894 | PIK3CD | c.*2337A>G (n.*2337A>G) c.2987A>G (p.Lys996Arg) c.3080A>G (p.Lys1027Arg) c.3083A>G (p.Lys1028Arg) c.2939A>G (p.Lys980Arg) c.3071A>G (p.Lys1024Arg) n.2244A>G c.3155A>G (p.Lys1052Arg) c.2996A>G (p.Lys999Arg) c.2435A>G (p.Lys812Arg) n.3168A>G c.3260A>G (p.Lys1087Arg) c.3173A>G (p.Lys1058Arg) | |
| 1 | g.9726994A>T | CA338308895 | PIK3CD | c.*2337A>T (n.*2337A>T) c.2987A>T (p.Lys996Ile) c.3080A>T (p.Lys1027Ile) c.3083A>T (p.Lys1028Ile) c.2939A>T (p.Lys980Ile) c.3071A>T (p.Lys1024Ile) n.2244A>T c.3155A>T (p.Lys1052Ile) c.2996A>T (p.Lys999Ile) c.2435A>T (p.Lys812Ile) n.3168A>T c.3260A>T (p.Lys1087Ile) c.3173A>T (p.Lys1058Ile) | |
| 1 | g.9726995A>C | CA338308897 | PIK3CD | c.*2338A>C (n.*2338A>C) c.2988A>C (p.Lys996Asn) c.3081A>C (p.Lys1027Asn) c.3084A>C (p.Lys1028Asn) c.2940A>C (p.Lys980Asn) c.3072A>C (p.Lys1024Asn) n.2245A>C c.3156A>C (p.Lys1052Asn) c.2997A>C (p.Lys999Asn) c.2436A>C (p.Lys812Asn) n.3169A>C c.3261A>C (p.Lys1087Asn) c.3174A>C (p.Lys1058Asn) | |
| 1 | g.9726995A>G | CA415876080 | PIK3CD | c.*2338A>G (n.*2338A>G) c.2988A>G (p.Lys996=) c.3081A>G (p.Lys1027=) c.3084A>G (p.Lys1028=) c.2940A>G (p.Lys980=) c.3072A>G (p.Lys1024=) n.2245A>G c.3156A>G (p.Lys1052=) c.2997A>G (p.Lys999=) c.2436A>G (p.Lys812=) n.3169A>G c.3261A>G (p.Lys1087=) c.3174A>G (p.Lys1058=) | |
| 1 | g.9726995A>T | CA338308896 | PIK3CD | c.*2338A>T (n.*2338A>T) c.2988A>T (p.Lys996Asn) c.3081A>T (p.Lys1027Asn) c.3084A>T (p.Lys1028Asn) c.2940A>T (p.Lys980Asn) c.3072A>T (p.Lys1024Asn) n.2245A>T c.3156A>T (p.Lys1052Asn) c.2997A>T (p.Lys999Asn) c.2436A>T (p.Lys812Asn) n.3169A>T c.3261A>T (p.Lys1087Asn) c.3174A>T (p.Lys1058Asn) | |
| 1 | g.9726996A>C | CA338308898 | PIK3CD | c.*2339A>C (n.*2339A>C) c.2989A>C (p.Thr997Pro) c.3082A>C (p.Thr1028Pro) c.3085A>C (p.Thr1029Pro) c.2941A>C (p.Thr981Pro) c.3073A>C (p.Thr1025Pro) n.2246A>C c.3157A>C (p.Thr1053Pro) c.2998A>C (p.Thr1000Pro) c.2437A>C (p.Thr813Pro) n.3170A>C c.3262A>C (p.Thr1088Pro) c.3175A>C (p.Thr1059Pro) | |
| 1 | g.9726996A>G | CA338308899 | PIK3CD | c.*2339A>G (n.*2339A>G) c.2989A>G (p.Thr997Ala) c.3082A>G (p.Thr1028Ala) c.3085A>G (p.Thr1029Ala) c.2941A>G (p.Thr981Ala) c.3073A>G (p.Thr1025Ala) n.2246A>G c.3157A>G (p.Thr1053Ala) c.2998A>G (p.Thr1000Ala) c.2437A>G (p.Thr813Ala) n.3170A>G c.3262A>G (p.Thr1088Ala) c.3175A>G (p.Thr1059Ala) | COSMIC COSMIC |
| 1 | g.9726996A>T | CA338308900 | PIK3CD | c.*2339A>T (n.*2339A>T) c.2989A>T (p.Thr997Ser) c.3082A>T (p.Thr1028Ser) c.3085A>T (p.Thr1029Ser) c.2941A>T (p.Thr981Ser) c.3073A>T (p.Thr1025Ser) n.2246A>T c.3157A>T (p.Thr1053Ser) c.2998A>T (p.Thr1000Ser) c.2437A>T (p.Thr813Ser) n.3170A>T c.3262A>T (p.Thr1088Ser) c.3175A>T (p.Thr1059Ser) | |
| 1 | g.9726997C>A | CA338308901 | PIK3CD | c.*2340C>A (n.*2340C>A) c.2990C>A (p.Thr997Asn) c.3083C>A (p.Thr1028Asn) c.3086C>A (p.Thr1029Asn) c.2942C>A (p.Thr981Asn) c.3074C>A (p.Thr1025Asn) n.2247C>A c.3158C>A (p.Thr1053Asn) c.2999C>A (p.Thr1000Asn) c.2438C>A (p.Thr813Asn) n.3171C>A c.3263C>A (p.Thr1088Asn) c.3176C>A (p.Thr1059Asn) | |
| 1 | g.9726997C>G | CA338308902 | PIK3CD | c.*2340C>G (n.*2340C>G) c.2990C>G (p.Thr997Ser) c.3083C>G (p.Thr1028Ser) c.3086C>G (p.Thr1029Ser) c.2942C>G (p.Thr981Ser) c.3074C>G (p.Thr1025Ser) n.2247C>G c.3158C>G (p.Thr1053Ser) c.2999C>G (p.Thr1000Ser) c.2438C>G (p.Thr813Ser) n.3171C>G c.3263C>G (p.Thr1088Ser) c.3176C>G (p.Thr1059Ser) | |
| 1 | g.9726997C>T | CA338308903 | PIK3CD | c.*2340C>T (n.*2340C>T) c.2990C>T (p.Thr997Ile) c.3083C>T (p.Thr1028Ile) c.3086C>T (p.Thr1029Ile) c.2942C>T (p.Thr981Ile) c.3074C>T (p.Thr1025Ile) n.2247C>T c.3158C>T (p.Thr1053Ile) c.2999C>T (p.Thr1000Ile) c.2438C>T (p.Thr813Ile) n.3171C>T c.3263C>T (p.Thr1088Ile) c.3176C>T (p.Thr1059Ile) | |
| 1 | g.9726998C>A | CA415876081 | PIK3CD | c.*2341C>A (n.*2341C>A) c.2991C>A (p.Thr997=) c.3084C>A (p.Thr1028=) c.3087C>A (p.Thr1029=) c.2943C>A (p.Thr981=) c.3075C>A (p.Thr1025=) n.2248C>A c.3159C>A (p.Thr1053=) c.3000C>A (p.Thr1000=) c.2439C>A (p.Thr813=) n.3172C>A c.3264C>A (p.Thr1088=) c.3177C>A (p.Thr1059=) | |
| 1 | g.9726998C>G | CA415876082 | PIK3CD | c.*2341C>G (n.*2341C>G) c.2991C>G (p.Thr997=) c.3084C>G (p.Thr1028=) c.3087C>G (p.Thr1029=) c.2943C>G (p.Thr981=) c.3075C>G (p.Thr1025=) n.2248C>G c.3159C>G (p.Thr1053=) c.3000C>G (p.Thr1000=) c.2439C>G (p.Thr813=) n.3172C>G c.3264C>G (p.Thr1088=) c.3177C>G (p.Thr1059=) | |
| 1 | g.9726998C>T | CA415876083 | PIK3CD | c.*2341C>T (n.*2341C>T) c.2991C>T (p.Thr997=) c.3084C>T (p.Thr1028=) c.3087C>T (p.Thr1029=) c.2943C>T (p.Thr981=) c.3075C>T (p.Thr1025=) n.2248C>T c.3159C>T (p.Thr1053=) c.3000C>T (p.Thr1000=) c.2439C>T (p.Thr813=) n.3172C>T c.3264C>T (p.Thr1088=) c.3177C>T (p.Thr1059=) | |
| 1 | g.9726999A>C | CA338308906 | PIK3CD | c.*2342A>C (n.*2342A>C) c.2992A>C (p.Lys998Gln) c.3085A>C (p.Lys1029Gln) c.3088A>C (p.Lys1030Gln) c.2944A>C (p.Lys982Gln) c.3076A>C (p.Lys1026Gln) n.2249A>C c.3160A>C (p.Lys1054Gln) c.3001A>C (p.Lys1001Gln) c.2440A>C (p.Lys814Gln) n.3173A>C c.3265A>C (p.Lys1089Gln) c.3178A>C (p.Lys1060Gln) | |
| 1 | g.9726999A>G | CA338308904 | PIK3CD | c.*2342A>G (n.*2342A>G) c.2992A>G (p.Lys998Glu) c.3085A>G (p.Lys1029Glu) c.3088A>G (p.Lys1030Glu) c.2944A>G (p.Lys982Glu) c.3076A>G (p.Lys1026Glu) n.2249A>G c.3160A>G (p.Lys1054Glu) c.3001A>G (p.Lys1001Glu) c.2440A>G (p.Lys814Glu) n.3173A>G c.3265A>G (p.Lys1089Glu) c.3178A>G (p.Lys1060Glu) | |
| 1 | g.9726999A>T | CA338308905 | PIK3CD | c.*2342A>T (n.*2342A>T) c.2992A>T (p.Lys998Ter) c.3085A>T (p.Lys1029Ter) c.3088A>T (p.Lys1030Ter) c.2944A>T (p.Lys982Ter) c.3076A>T (p.Lys1026Ter) n.2249A>T c.3160A>T (p.Lys1054Ter) c.3001A>T (p.Lys1001Ter) c.2440A>T (p.Lys814Ter) n.3173A>T c.3265A>T (p.Lys1089Ter) c.3178A>T (p.Lys1060Ter) | |
| 1 | g.9727000A>C | CA338308907 | PIK3CD | c.*2343A>C (n.*2343A>C) c.2993A>C (p.Lys998Thr) c.3086A>C (p.Lys1029Thr) c.3089A>C (p.Lys1030Thr) c.2945A>C (p.Lys982Thr) c.3077A>C (p.Lys1026Thr) n.2250A>C c.3161A>C (p.Lys1054Thr) c.3002A>C (p.Lys1001Thr) c.2441A>C (p.Lys814Thr) n.3174A>C c.3266A>C (p.Lys1089Thr) c.3179A>C (p.Lys1060Thr) | |
| 1 | g.9727000A>G | CA338308908 | PIK3CD | c.*2343A>G (n.*2343A>G) c.2993A>G (p.Lys998Arg) c.3086A>G (p.Lys1029Arg) c.3089A>G (p.Lys1030Arg) c.2945A>G (p.Lys982Arg) c.3077A>G (p.Lys1026Arg) n.2250A>G c.3161A>G (p.Lys1054Arg) c.3002A>G (p.Lys1001Arg) c.2441A>G (p.Lys814Arg) n.3174A>G c.3266A>G (p.Lys1089Arg) c.3179A>G (p.Lys1060Arg) | |
| 1 | g.9727000A>T | CA338308909 | PIK3CD | c.*2343A>T (n.*2343A>T) c.2993A>T (p.Lys998Ile) c.3086A>T (p.Lys1029Ile) c.3089A>T (p.Lys1030Ile) c.2945A>T (p.Lys982Ile) c.3077A>T (p.Lys1026Ile) n.2250A>T c.3161A>T (p.Lys1054Ile) c.3002A>T (p.Lys1001Ile) c.2441A>T (p.Lys814Ile) n.3174A>T c.3266A>T (p.Lys1089Ile) c.3179A>T (p.Lys1060Ile) | |
| 1 | g.9727001A= | CA1143367347 | PIK3CD | c.*2344A= (n.*2344A=) c.2994A= (p.Lys998=) c.3087A= (p.Lys1029=) c.3090A= (p.Lys1030=) c.2946A= (p.Lys982=) c.3078A= (p.Lys1026=) n.2251A= c.3162A= (p.Lys1054=) c.3003A= (p.Lys1001=) c.2442A= (p.Lys814=) n.3175A= c.3267A= (p.Lys1089=) c.3180A= (p.Lys1060=) |