Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.9726906C>T | CA2574203511 | PIK3CD | c.*2252-3C>T (n.*2252-3C>T) c.2902-3C>T (n.2902-3C>T) c.2995-3C>T (n.2995-3C>T) c.2998-3C>T (n.2998-3C>T) c.2854-3C>T (n.2854-3C>T) c.2986-3C>T (n.2986-3C>T) n.2159-3C>T c.3070-3C>T (n.3070-3C>T) c.2911-3C>T (n.2911-3C>T) c.2350-3C>T (n.2350-3C>T) n.3083-3C>T c.3175-3C>T (n.3175-3C>T) c.3088-3C>T (n.3088-3C>T) | |
1 | g.9726907A>C | CA338308697 | PIK3CD | c.*2252-2A>C (n.*2252-2A>C) c.2902-2A>C (n.2902-2A>C) c.2995-2A>C (n.2995-2A>C) c.2998-2A>C (n.2998-2A>C) c.2854-2A>C (n.2854-2A>C) c.2986-2A>C (n.2986-2A>C) n.2159-2A>C c.3070-2A>C (n.3070-2A>C) c.2911-2A>C (n.2911-2A>C) c.2350-2A>C (n.2350-2A>C) n.3083-2A>C c.3175-2A>C (n.3175-2A>C) c.3088-2A>C (n.3088-2A>C) | |
1 | g.9726907A>G | CA338308698 | PIK3CD | c.*2252-2A>G (n.*2252-2A>G) c.2902-2A>G (n.2902-2A>G) c.2995-2A>G (n.2995-2A>G) c.2998-2A>G (n.2998-2A>G) c.2854-2A>G (n.2854-2A>G) c.2986-2A>G (n.2986-2A>G) n.2159-2A>G c.3070-2A>G (n.3070-2A>G) c.2911-2A>G (n.2911-2A>G) c.2350-2A>G (n.2350-2A>G) n.3083-2A>G c.3175-2A>G (n.3175-2A>G) c.3088-2A>G (n.3088-2A>G) | |
1 | g.9726907A>T | CA338308699 | PIK3CD | c.*2252-2A>T (n.*2252-2A>T) c.2902-2A>T (n.2902-2A>T) c.2995-2A>T (n.2995-2A>T) c.2998-2A>T (n.2998-2A>T) c.2854-2A>T (n.2854-2A>T) c.2986-2A>T (n.2986-2A>T) n.2159-2A>T c.3070-2A>T (n.3070-2A>T) c.2911-2A>T (n.2911-2A>T) c.2350-2A>T (n.2350-2A>T) n.3083-2A>T c.3175-2A>T (n.3175-2A>T) c.3088-2A>T (n.3088-2A>T) | |
1 | g.9726908G>A | CA338308702 | PIK3CD | c.*2252-1G>A (n.*2252-1G>A) c.2902-1G>A (n.2902-1G>A) c.2995-1G>A (n.2995-1G>A) c.2998-1G>A (n.2998-1G>A) c.2854-1G>A (n.2854-1G>A) c.2986-1G>A (n.2986-1G>A) n.2159-1G>A c.3070-1G>A (n.3070-1G>A) c.2911-1G>A (n.2911-1G>A) c.2350-1G>A (n.2350-1G>A) n.3083-1G>A c.3175-1G>A (n.3175-1G>A) c.3088-1G>A (n.3088-1G>A) | |
1 | g.9726908G>C | CA338308700 | PIK3CD | c.*2252-1G>C (n.*2252-1G>C) c.2902-1G>C (n.2902-1G>C) c.2995-1G>C (n.2995-1G>C) c.2998-1G>C (n.2998-1G>C) c.2854-1G>C (n.2854-1G>C) c.2986-1G>C (n.2986-1G>C) n.2159-1G>C c.3070-1G>C (n.3070-1G>C) c.2911-1G>C (n.2911-1G>C) c.2350-1G>C (n.2350-1G>C) n.3083-1G>C c.3175-1G>C (n.3175-1G>C) c.3088-1G>C (n.3088-1G>C) | |
1 | g.9726908G>T | CA338308701 | PIK3CD | c.*2252-1G>T (n.*2252-1G>T) c.2902-1G>T (n.2902-1G>T) c.2995-1G>T (n.2995-1G>T) c.2998-1G>T (n.2998-1G>T) c.2854-1G>T (n.2854-1G>T) c.2986-1G>T (n.2986-1G>T) n.2159-1G>T c.3070-1G>T (n.3070-1G>T) c.2911-1G>T (n.2911-1G>T) c.2350-1G>T (n.2350-1G>T) n.3083-1G>T c.3175-1G>T (n.3175-1G>T) c.3088-1G>T (n.3088-1G>T) | |
1 | g.9726909G>A | CA338308703 | PIK3CD | c.*2252G>A (n.*2252G>A) c.2902G>A (p.Asp968Asn) c.2995G>A (p.Asp999Asn) c.2998G>A (p.Asp1000Asn) c.2854G>A (p.Asp952Asn) c.2986G>A (p.Asp996Asn) n.2159G>A c.3070G>A (p.Asp1024Asn) c.2911G>A (p.Asp971Asn) c.2350G>A (p.Asp784Asn) n.3083G>A c.3175G>A (p.Asp1059Asn) c.3088G>A (p.Asp1030Asn) | dbSNP |
1 | g.9726909G>C | CA338308704 | PIK3CD | c.*2252G>C (n.*2252G>C) c.2902G>C (p.Asp968His) c.2995G>C (p.Asp999His) c.2998G>C (p.Asp1000His) c.2854G>C (p.Asp952His) c.2986G>C (p.Asp996His) n.2159G>C c.3070G>C (p.Asp1024His) c.2911G>C (p.Asp971His) c.2350G>C (p.Asp784His) n.3083G>C c.3175G>C (p.Asp1059His) c.3088G>C (p.Asp1030His) | gnomAD v4 |
1 | g.9726909G= | CA1152936814 | PIK3CD | c.*2252G= (n.*2252G=) c.2902G= (p.Asp968=) c.2995G= (p.Asp999=) c.2998G= (p.Asp1000=) c.2854G= (p.Asp952=) c.2986G= (p.Asp996=) n.2159G= c.3070G= (p.Asp1024=) c.2911G= (p.Asp971=) c.2350G= (p.Asp784=) n.3083G= c.3175G= (p.Asp1059=) c.3088G= (p.Asp1030=) | |
1 | g.9726909G>T | CA338308705 | PIK3CD | c.*2252G>T (n.*2252G>T) c.2902G>T (p.Asp968Tyr) c.2995G>T (p.Asp999Tyr) c.2998G>T (p.Asp1000Tyr) c.2854G>T (p.Asp952Tyr) c.2986G>T (p.Asp996Tyr) n.2159G>T c.3070G>T (p.Asp1024Tyr) c.2911G>T (p.Asp971Tyr) c.2350G>T (p.Asp784Tyr) n.3083G>T c.3175G>T (p.Asp1059Tyr) c.3088G>T (p.Asp1030Tyr) | |
1 | g.9726910A>C | CA338308706 | PIK3CD | c.*2253A>C (n.*2253A>C) c.2903A>C (p.Asp968Ala) c.2996A>C (p.Asp999Ala) c.2999A>C (p.Asp1000Ala) c.2855A>C (p.Asp952Ala) c.2987A>C (p.Asp996Ala) n.2160A>C c.3071A>C (p.Asp1024Ala) c.2912A>C (p.Asp971Ala) c.2351A>C (p.Asp784Ala) n.3084A>C c.3176A>C (p.Asp1059Ala) c.3089A>C (p.Asp1030Ala) | |
1 | g.9726910A>G | CA338308707 | PIK3CD | c.*2253A>G (n.*2253A>G) c.2903A>G (p.Asp968Gly) c.2996A>G (p.Asp999Gly) c.2999A>G (p.Asp1000Gly) c.2855A>G (p.Asp952Gly) c.2987A>G (p.Asp996Gly) n.2160A>G c.3071A>G (p.Asp1024Gly) c.2912A>G (p.Asp971Gly) c.2351A>G (p.Asp784Gly) n.3084A>G c.3176A>G (p.Asp1059Gly) c.3089A>G (p.Asp1030Gly) | |
1 | g.9726910A>T | CA338308708 | PIK3CD | c.*2253A>T (n.*2253A>T) c.2903A>T (p.Asp968Val) c.2996A>T (p.Asp999Val) c.2999A>T (p.Asp1000Val) c.2855A>T (p.Asp952Val) c.2987A>T (p.Asp996Val) n.2160A>T c.3071A>T (p.Asp1024Val) c.2912A>T (p.Asp971Val) c.2351A>T (p.Asp784Val) n.3084A>T c.3176A>T (p.Asp1059Val) c.3089A>T (p.Asp1030Val) | |
1 | g.9726911C>A | CA338308709 | PIK3CD | c.*2254C>A (n.*2254C>A) c.2904C>A (p.Asp968Glu) c.2997C>A (p.Asp999Glu) c.3000C>A (p.Asp1000Glu) c.2856C>A (p.Asp952Glu) c.2988C>A (p.Asp996Glu) n.2161C>A c.3072C>A (p.Asp1024Glu) c.2913C>A (p.Asp971Glu) c.2352C>A (p.Asp784Glu) n.3085C>A c.3177C>A (p.Asp1059Glu) c.3090C>A (p.Asp1030Glu) | |
1 | g.9726911C>G | CA338308710 | PIK3CD | c.*2254C>G (n.*2254C>G) c.2904C>G (p.Asp968Glu) c.2997C>G (p.Asp999Glu) c.3000C>G (p.Asp1000Glu) c.2856C>G (p.Asp952Glu) c.2988C>G (p.Asp996Glu) n.2161C>G c.3072C>G (p.Asp1024Glu) c.2913C>G (p.Asp971Glu) c.2352C>G (p.Asp784Glu) n.3085C>G c.3177C>G (p.Asp1059Glu) c.3090C>G (p.Asp1030Glu) | |
1 | g.9726911C>T | CA415875805 | PIK3CD | c.*2254C>T (n.*2254C>T) c.2904C>T (p.Asp968=) c.2997C>T (p.Asp999=) c.3000C>T (p.Asp1000=) c.2856C>T (p.Asp952=) c.2988C>T (p.Asp996=) n.2161C>T c.3072C>T (p.Asp1024=) c.2913C>T (p.Asp971=) c.2352C>T (p.Asp784=) n.3085C>T c.3177C>T (p.Asp1059=) c.3090C>T (p.Asp1030=) | gnomAD v4 |
1 | g.9726912_9726919del | CA2571638129 | PIK3CD | c.*2255_*2262del (n.*2255_*2262del) c.2905_2912del (p.Ser969ThrfsTer17) c.2998_3005del (p.Ser1000ThrfsTer17) c.3001_3008del (p.Ser1001ThrfsTer17) c.2857_2864del (p.Ser953ThrfsTer17) c.2989_2996del (p.Ser997ThrfsTer17) n.2162_2169del c.3073_3080del (p.Ser1025ThrfsTer17) c.2914_2921del (p.Ser972ThrfsTer17) c.2353_2360del (p.Ser785ThrfsTer17) n.3086_3093del c.3178_3185del (p.Ser1060ThrfsTer17) c.3091_3098del (p.Ser1031ThrfsTer17) | |
1 | g.9726912T>A | CA338308711 | PIK3CD | c.*2255T>A (n.*2255T>A) c.2905T>A (p.Ser969Thr) c.2998T>A (p.Ser1000Thr) c.3001T>A (p.Ser1001Thr) c.2857T>A (p.Ser953Thr) c.2989T>A (p.Ser997Thr) n.2162T>A c.3073T>A (p.Ser1025Thr) c.2914T>A (p.Ser972Thr) c.2353T>A (p.Ser785Thr) n.3086T>A c.3178T>A (p.Ser1060Thr) c.3091T>A (p.Ser1031Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.9726912T>C | CA338308712 | PIK3CD | c.*2255T>C (n.*2255T>C) c.2905T>C (p.Ser969Pro) c.2998T>C (p.Ser1000Pro) c.3001T>C (p.Ser1001Pro) c.2857T>C (p.Ser953Pro) c.2989T>C (p.Ser997Pro) n.2162T>C c.3073T>C (p.Ser1025Pro) c.2914T>C (p.Ser972Pro) c.2353T>C (p.Ser785Pro) n.3086T>C c.3178T>C (p.Ser1060Pro) c.3091T>C (p.Ser1031Pro) | |
1 | g.9726912T>G | CA338308713 | PIK3CD | c.*2255T>G (n.*2255T>G) c.2905T>G (p.Ser969Ala) c.2998T>G (p.Ser1000Ala) c.3001T>G (p.Ser1001Ala) c.2857T>G (p.Ser953Ala) c.2989T>G (p.Ser997Ala) n.2162T>G c.3073T>G (p.Ser1025Ala) c.2914T>G (p.Ser972Ala) c.2353T>G (p.Ser785Ala) n.3086T>G c.3178T>G (p.Ser1060Ala) c.3091T>G (p.Ser1031Ala) | |
1 | g.9726913C>A | CA338308716 | PIK3CD | c.*2256C>A (n.*2256C>A) c.2906C>A (p.Ser969Tyr) c.2999C>A (p.Ser1000Tyr) c.3002C>A (p.Ser1001Tyr) c.2858C>A (p.Ser953Tyr) c.2990C>A (p.Ser997Tyr) n.2163C>A c.3074C>A (p.Ser1025Tyr) c.2915C>A (p.Ser972Tyr) c.2354C>A (p.Ser785Tyr) n.3087C>A c.3179C>A (p.Ser1060Tyr) c.3092C>A (p.Ser1031Tyr) | |
1 | g.9726913C>G | CA338308715 | PIK3CD | c.*2256C>G (n.*2256C>G) c.2906C>G (p.Ser969Cys) c.2999C>G (p.Ser1000Cys) c.3002C>G (p.Ser1001Cys) c.2858C>G (p.Ser953Cys) c.2990C>G (p.Ser997Cys) n.2163C>G c.3074C>G (p.Ser1025Cys) c.2915C>G (p.Ser972Cys) c.2354C>G (p.Ser785Cys) n.3087C>G c.3179C>G (p.Ser1060Cys) c.3092C>G (p.Ser1031Cys) | |
1 | g.9726913C>T | CA338308714 | PIK3CD | c.*2256C>T (n.*2256C>T) c.2906C>T (p.Ser969Phe) c.2999C>T (p.Ser1000Phe) c.3002C>T (p.Ser1001Phe) c.2858C>T (p.Ser953Phe) c.2990C>T (p.Ser997Phe) n.2163C>T c.3074C>T (p.Ser1025Phe) c.2915C>T (p.Ser972Phe) c.2354C>T (p.Ser785Phe) n.3087C>T c.3179C>T (p.Ser1060Phe) c.3092C>T (p.Ser1031Phe) | |
1 | g.9726914C>A | CA415875816 | PIK3CD | c.*2257C>A (n.*2257C>A) c.2907C>A (p.Ser969=) c.3000C>A (p.Ser1000=) c.3003C>A (p.Ser1001=) c.2859C>A (p.Ser953=) c.2991C>A (p.Ser997=) n.2164C>A c.3075C>A (p.Ser1025=) c.2916C>A (p.Ser972=) c.2355C>A (p.Ser785=) n.3088C>A c.3180C>A (p.Ser1060=) c.3093C>A (p.Ser1031=) | |
1 | g.9726914C= | CA1152936817 | PIK3CD | c.*2257C= (n.*2257C=) c.2907C= (p.Ser969=) c.3000C= (p.Ser1000=) c.3003C= (p.Ser1001=) c.2859C= (p.Ser953=) c.2991C= (p.Ser997=) n.2164C= c.3075C= (p.Ser1025=) c.2916C= (p.Ser972=) c.2355C= (p.Ser785=) n.3088C= c.3180C= (p.Ser1060=) c.3093C= (p.Ser1031=) | |
1 | g.9726914C>G | CA415875818 | PIK3CD | c.*2257C>G (n.*2257C>G) c.2907C>G (p.Ser969=) c.3000C>G (p.Ser1000=) c.3003C>G (p.Ser1001=) c.2859C>G (p.Ser953=) c.2991C>G (p.Ser997=) n.2164C>G c.3075C>G (p.Ser1025=) c.2916C>G (p.Ser972=) c.2355C>G (p.Ser785=) n.3088C>G c.3180C>G (p.Ser1060=) c.3093C>G (p.Ser1031=) | dbSNP |
1 | g.9726914C>T | CA17787013 | PIK3CD | c.*2257C>T (n.*2257C>T) c.2907C>T (p.Ser969=) c.3000C>T (p.Ser1000=) c.3003C>T (p.Ser1001=) c.2859C>T (p.Ser953=) c.2991C>T (p.Ser997=) n.2164C>T c.3075C>T (p.Ser1025=) c.2916C>T (p.Ser972=) c.2355C>T (p.Ser785=) n.3088C>T c.3180C>T (p.Ser1060=) c.3093C>T (p.Ser1031=) | dbSNP gnomAD v4 |
1 | g.9726915C>A | CA338308718 | PIK3CD | c.*2258C>A (n.*2258C>A) c.2908C>A (p.Leu970Met) c.3001C>A (p.Leu1001Met) c.3004C>A (p.Leu1002Met) c.2860C>A (p.Leu954Met) c.2992C>A (p.Leu998Met) n.2165C>A c.3076C>A (p.Leu1026Met) c.2917C>A (p.Leu973Met) c.2356C>A (p.Leu786Met) n.3089C>A c.3181C>A (p.Leu1061Met) c.3094C>A (p.Leu1032Met) | |
1 | g.9726915C>G | CA338308717 | PIK3CD | c.*2258C>G (n.*2258C>G) c.2908C>G (p.Leu970Val) c.3001C>G (p.Leu1001Val) c.3004C>G (p.Leu1002Val) c.2860C>G (p.Leu954Val) c.2992C>G (p.Leu998Val) n.2165C>G c.3076C>G (p.Leu1026Val) c.2917C>G (p.Leu973Val) c.2356C>G (p.Leu786Val) n.3089C>G c.3181C>G (p.Leu1061Val) c.3094C>G (p.Leu1032Val) | |
1 | g.9726915C>T | CA415875823 | PIK3CD | c.*2258C>T (n.*2258C>T) c.2908C>T (p.Leu970=) c.3001C>T (p.Leu1001=) c.3004C>T (p.Leu1002=) c.2860C>T (p.Leu954=) c.2992C>T (p.Leu998=) n.2165C>T c.3076C>T (p.Leu1026=) c.2917C>T (p.Leu973=) c.2356C>T (p.Leu786=) n.3089C>T c.3181C>T (p.Leu1061=) c.3094C>T (p.Leu1032=) | |
1 | g.9726916T>A | CA338308719 | PIK3CD | c.*2259T>A (n.*2259T>A) c.2909T>A (p.Leu970Gln) c.3002T>A (p.Leu1001Gln) c.3005T>A (p.Leu1002Gln) c.2861T>A (p.Leu954Gln) c.2993T>A (p.Leu998Gln) n.2166T>A c.3077T>A (p.Leu1026Gln) c.2918T>A (p.Leu973Gln) c.2357T>A (p.Leu786Gln) n.3090T>A c.3182T>A (p.Leu1061Gln) c.3095T>A (p.Leu1032Gln) | |
1 | g.9726916T>C | CA338308720 | PIK3CD | c.*2259T>C (n.*2259T>C) c.2909T>C (p.Leu970Pro) c.3002T>C (p.Leu1001Pro) c.3005T>C (p.Leu1002Pro) c.2861T>C (p.Leu954Pro) c.2993T>C (p.Leu998Pro) n.2166T>C c.3077T>C (p.Leu1026Pro) c.2918T>C (p.Leu973Pro) c.2357T>C (p.Leu786Pro) n.3090T>C c.3182T>C (p.Leu1061Pro) c.3095T>C (p.Leu1032Pro) | COSMIC COSMIC |
1 | g.9726916T>G | CA338308721 | PIK3CD | c.*2259T>G (n.*2259T>G) c.2909T>G (p.Leu970Arg) c.3002T>G (p.Leu1001Arg) c.3005T>G (p.Leu1002Arg) c.2861T>G (p.Leu954Arg) c.2993T>G (p.Leu998Arg) n.2166T>G c.3077T>G (p.Leu1026Arg) c.2918T>G (p.Leu973Arg) c.2357T>G (p.Leu786Arg) n.3090T>G c.3182T>G (p.Leu1061Arg) c.3095T>G (p.Leu1032Arg) | |
1 | g.9726917G>A | CA415875828 | PIK3CD | c.*2260G>A (n.*2260G>A) c.2910G>A (p.Leu970=) c.3003G>A (p.Leu1001=) c.3006G>A (p.Leu1002=) c.2862G>A (p.Leu954=) c.2994G>A (p.Leu998=) n.2167G>A c.3078G>A (p.Leu1026=) c.2919G>A (p.Leu973=) c.2358G>A (p.Leu786=) n.3091G>A c.3183G>A (p.Leu1061=) c.3096G>A (p.Leu1032=) | |
1 | g.9726917G>C | CA415875830 | PIK3CD | c.*2260G>C (n.*2260G>C) c.2910G>C (p.Leu970=) c.3003G>C (p.Leu1001=) c.3006G>C (p.Leu1002=) c.2862G>C (p.Leu954=) c.2994G>C (p.Leu998=) n.2167G>C c.3078G>C (p.Leu1026=) c.2919G>C (p.Leu973=) c.2358G>C (p.Leu786=) n.3091G>C c.3183G>C (p.Leu1061=) c.3096G>C (p.Leu1032=) | |
1 | g.9726917G= | CA1152936821 | PIK3CD | c.*2260G= (n.*2260G=) c.2910G= (p.Leu970=) c.3003G= (p.Leu1001=) c.3006G= (p.Leu1002=) c.2862G= (p.Leu954=) c.2994G= (p.Leu998=) n.2167G= c.3078G= (p.Leu1026=) c.2919G= (p.Leu973=) c.2358G= (p.Leu786=) n.3091G= c.3183G= (p.Leu1061=) c.3096G= (p.Leu1032=) | |
1 | g.9726917G>T | CA577718 | PIK3CD | c.*2260G>T (n.*2260G>T) c.2910G>T (p.Leu970=) c.3003G>T (p.Leu1001=) c.3006G>T (p.Leu1002=) c.2862G>T (p.Leu954=) c.2994G>T (p.Leu998=) n.2167G>T c.3078G>T (p.Leu1026=) c.2919G>T (p.Leu973=) c.2358G>T (p.Leu786=) n.3091G>T c.3183G>T (p.Leu1061=) c.3096G>T (p.Leu1032=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9726918G>A | CA338308722 | PIK3CD | c.*2261G>A (n.*2261G>A) c.2911G>A (p.Ala971Thr) c.3004G>A (p.Ala1002Thr) c.3007G>A (p.Ala1003Thr) c.2863G>A (p.Ala955Thr) c.2995G>A (p.Ala999Thr) n.2168G>A c.3079G>A (p.Ala1027Thr) c.2920G>A (p.Ala974Thr) c.2359G>A (p.Ala787Thr) n.3092G>A c.3184G>A (p.Ala1062Thr) c.3097G>A (p.Ala1033Thr) | gnomAD v4 |
1 | g.9726918G>C | CA338308723 | PIK3CD | c.*2261G>C (n.*2261G>C) c.2911G>C (p.Ala971Pro) c.3004G>C (p.Ala1002Pro) c.3007G>C (p.Ala1003Pro) c.2863G>C (p.Ala955Pro) c.2995G>C (p.Ala999Pro) n.2168G>C c.3079G>C (p.Ala1027Pro) c.2920G>C (p.Ala974Pro) c.2359G>C (p.Ala787Pro) n.3092G>C c.3184G>C (p.Ala1062Pro) c.3097G>C (p.Ala1033Pro) | |
1 | g.9726918G>T | CA338308724 | PIK3CD | c.*2261G>T (n.*2261G>T) c.2911G>T (p.Ala971Ser) c.3004G>T (p.Ala1002Ser) c.3007G>T (p.Ala1003Ser) c.2863G>T (p.Ala955Ser) c.2995G>T (p.Ala999Ser) n.2168G>T c.3079G>T (p.Ala1027Ser) c.2920G>T (p.Ala974Ser) c.2359G>T (p.Ala787Ser) n.3092G>T c.3184G>T (p.Ala1062Ser) c.3097G>T (p.Ala1033Ser) | |
1 | g.9726919C>A | CA338308725 | PIK3CD | c.*2262C>A (n.*2262C>A) c.2912C>A (p.Ala971Glu) c.3005C>A (p.Ala1002Glu) c.3008C>A (p.Ala1003Glu) c.2864C>A (p.Ala955Glu) c.2996C>A (p.Ala999Glu) n.2169C>A c.3080C>A (p.Ala1027Glu) c.2921C>A (p.Ala974Glu) c.2360C>A (p.Ala787Glu) n.3093C>A c.3185C>A (p.Ala1062Glu) c.3098C>A (p.Ala1033Glu) | |
1 | g.9726919C>G | CA338308726 | PIK3CD | c.*2262C>G (n.*2262C>G) c.2912C>G (p.Ala971Gly) c.3005C>G (p.Ala1002Gly) c.3008C>G (p.Ala1003Gly) c.2864C>G (p.Ala955Gly) c.2996C>G (p.Ala999Gly) n.2169C>G c.3080C>G (p.Ala1027Gly) c.2921C>G (p.Ala974Gly) c.2360C>G (p.Ala787Gly) n.3093C>G c.3185C>G (p.Ala1062Gly) c.3098C>G (p.Ala1033Gly) | |
1 | g.9726919C>T | CA338308727 | PIK3CD | c.*2262C>T (n.*2262C>T) c.2912C>T (p.Ala971Val) c.3005C>T (p.Ala1002Val) c.3008C>T (p.Ala1003Val) c.2864C>T (p.Ala955Val) c.2996C>T (p.Ala999Val) n.2169C>T c.3080C>T (p.Ala1027Val) c.2921C>T (p.Ala974Val) c.2360C>T (p.Ala787Val) n.3093C>T c.3185C>T (p.Ala1062Val) c.3098C>T (p.Ala1033Val) | |
1 | g.9726920A>C | CA415875840 | PIK3CD | c.*2263A>C (n.*2263A>C) c.2913A>C (p.Ala971=) c.3006A>C (p.Ala1002=) c.3009A>C (p.Ala1003=) c.2865A>C (p.Ala955=) c.2997A>C (p.Ala999=) n.2170A>C c.3081A>C (p.Ala1027=) c.2922A>C (p.Ala974=) c.2361A>C (p.Ala787=) n.3094A>C c.3186A>C (p.Ala1062=) c.3099A>C (p.Ala1033=) | |
1 | g.9726920A>G | CA415875842 | PIK3CD | c.*2263A>G (n.*2263A>G) c.2913A>G (p.Ala971=) c.3006A>G (p.Ala1002=) c.3009A>G (p.Ala1003=) c.2865A>G (p.Ala955=) c.2997A>G (p.Ala999=) n.2170A>G c.3081A>G (p.Ala1027=) c.2922A>G (p.Ala974=) c.2361A>G (p.Ala787=) n.3094A>G c.3186A>G (p.Ala1062=) c.3099A>G (p.Ala1033=) | |
1 | g.9726920A>T | CA415875844 | PIK3CD | c.*2263A>T (n.*2263A>T) c.2913A>T (p.Ala971=) c.3006A>T (p.Ala1002=) c.3009A>T (p.Ala1003=) c.2865A>T (p.Ala955=) c.2997A>T (p.Ala999=) n.2170A>T c.3081A>T (p.Ala1027=) c.2922A>T (p.Ala974=) c.2361A>T (p.Ala787=) n.3094A>T c.3186A>T (p.Ala1062=) c.3099A>T (p.Ala1033=) | |
1 | g.9726921C>A | CA338308728 | PIK3CD | c.*2264C>A (n.*2264C>A) c.2914C>A (p.Leu972Met) c.3007C>A (p.Leu1003Met) c.3010C>A (p.Leu1004Met) c.2866C>A (p.Leu956Met) c.2998C>A (p.Leu1000Met) n.2171C>A c.3082C>A (p.Leu1028Met) c.2923C>A (p.Leu975Met) c.2362C>A (p.Leu788Met) n.3095C>A c.3187C>A (p.Leu1063Met) c.3100C>A (p.Leu1034Met) | |
1 | g.9726921C>G | CA338308729 | PIK3CD | c.*2264C>G (n.*2264C>G) c.2914C>G (p.Leu972Val) c.3007C>G (p.Leu1003Val) c.3010C>G (p.Leu1004Val) c.2866C>G (p.Leu956Val) c.2998C>G (p.Leu1000Val) n.2171C>G c.3082C>G (p.Leu1028Val) c.2923C>G (p.Leu975Val) c.2362C>G (p.Leu788Val) n.3095C>G c.3187C>G (p.Leu1063Val) c.3100C>G (p.Leu1034Val) | gnomAD v4 |
1 | g.9726921C>T | CA415875848 | PIK3CD | c.*2264C>T (n.*2264C>T) c.2914C>T (p.Leu972=) c.3007C>T (p.Leu1003=) c.3010C>T (p.Leu1004=) c.2866C>T (p.Leu956=) c.2998C>T (p.Leu1000=) n.2171C>T c.3082C>T (p.Leu1028=) c.2923C>T (p.Leu975=) c.2362C>T (p.Leu788=) n.3095C>T c.3187C>T (p.Leu1063=) c.3100C>T (p.Leu1034=) | |
1 | g.9726922T>A | CA338308730 | PIK3CD | c.*2265T>A (n.*2265T>A) c.2915T>A (p.Leu972Gln) c.3008T>A (p.Leu1003Gln) c.3011T>A (p.Leu1004Gln) c.2867T>A (p.Leu956Gln) c.2999T>A (p.Leu1000Gln) n.2172T>A c.3083T>A (p.Leu1028Gln) c.2924T>A (p.Leu975Gln) c.2363T>A (p.Leu788Gln) n.3096T>A c.3188T>A (p.Leu1063Gln) c.3101T>A (p.Leu1034Gln) | |
1 | g.9726922T>C | CA338308732 | PIK3CD | c.*2265T>C (n.*2265T>C) c.2915T>C (p.Leu972Pro) c.3008T>C (p.Leu1003Pro) c.3011T>C (p.Leu1004Pro) c.2867T>C (p.Leu956Pro) c.2999T>C (p.Leu1000Pro) n.2172T>C c.3083T>C (p.Leu1028Pro) c.2924T>C (p.Leu975Pro) c.2363T>C (p.Leu788Pro) n.3096T>C c.3188T>C (p.Leu1063Pro) c.3101T>C (p.Leu1034Pro) | |
1 | g.9726922T>G | CA338308731 | PIK3CD | c.*2265T>G (n.*2265T>G) c.2915T>G (p.Leu972Arg) c.3008T>G (p.Leu1003Arg) c.3011T>G (p.Leu1004Arg) c.2867T>G (p.Leu956Arg) c.2999T>G (p.Leu1000Arg) n.2172T>G c.3083T>G (p.Leu1028Arg) c.2924T>G (p.Leu975Arg) c.2363T>G (p.Leu788Arg) n.3096T>G c.3188T>G (p.Leu1063Arg) c.3101T>G (p.Leu1034Arg) | |
1 | g.9726923G>A | CA415875853 | PIK3CD | c.*2266G>A (n.*2266G>A) c.2916G>A (p.Leu972=) c.3009G>A (p.Leu1003=) c.3012G>A (p.Leu1004=) c.2868G>A (p.Leu956=) c.3000G>A (p.Leu1000=) n.2173G>A c.3084G>A (p.Leu1028=) c.2925G>A (p.Leu975=) c.2364G>A (p.Leu788=) n.3097G>A c.3189G>A (p.Leu1063=) c.3102G>A (p.Leu1034=) | |
1 | g.9726923G>C | CA415875854 | PIK3CD | c.*2266G>C (n.*2266G>C) c.2916G>C (p.Leu972=) c.3009G>C (p.Leu1003=) c.3012G>C (p.Leu1004=) c.2868G>C (p.Leu956=) c.3000G>C (p.Leu1000=) n.2173G>C c.3084G>C (p.Leu1028=) c.2925G>C (p.Leu975=) c.2364G>C (p.Leu788=) n.3097G>C c.3189G>C (p.Leu1063=) c.3102G>C (p.Leu1034=) | |
1 | g.9726923G>T | CA415875856 | PIK3CD | c.*2266G>T (n.*2266G>T) c.2916G>T (p.Leu972=) c.3009G>T (p.Leu1003=) c.3012G>T (p.Leu1004=) c.2868G>T (p.Leu956=) c.3000G>T (p.Leu1000=) n.2173G>T c.3084G>T (p.Leu1028=) c.2925G>T (p.Leu975=) c.2364G>T (p.Leu788=) n.3097G>T c.3189G>T (p.Leu1063=) c.3102G>T (p.Leu1034=) | |
1 | g.9726924G>A | CA338308733 | PIK3CD | c.*2267G>A (n.*2267G>A) c.2917G>A (p.Gly973Arg) c.3010G>A (p.Gly1004Arg) c.3013G>A (p.Gly1005Arg) c.2869G>A (p.Gly957Arg) c.3001G>A (p.Gly1001Arg) n.2174G>A c.3085G>A (p.Gly1029Arg) c.2926G>A (p.Gly976Arg) c.2365G>A (p.Gly789Arg) n.3098G>A c.3190G>A (p.Gly1064Arg) c.3103G>A (p.Gly1035Arg) | |
1 | g.9726924G>C | CA338308734 | PIK3CD | c.*2267G>C (n.*2267G>C) c.2917G>C (p.Gly973Arg) c.3010G>C (p.Gly1004Arg) c.3013G>C (p.Gly1005Arg) c.2869G>C (p.Gly957Arg) c.3001G>C (p.Gly1001Arg) n.2174G>C c.3085G>C (p.Gly1029Arg) c.2926G>C (p.Gly976Arg) c.2365G>C (p.Gly789Arg) n.3098G>C c.3190G>C (p.Gly1064Arg) c.3103G>C (p.Gly1035Arg) | |
1 | g.9726924G>T | CA338308735 | PIK3CD | c.*2267G>T (n.*2267G>T) c.2917G>T (p.Gly973Trp) c.3010G>T (p.Gly1004Trp) c.3013G>T (p.Gly1005Trp) c.2869G>T (p.Gly957Trp) c.3001G>T (p.Gly1001Trp) n.2174G>T c.3085G>T (p.Gly1029Trp) c.2926G>T (p.Gly976Trp) c.2365G>T (p.Gly789Trp) n.3098G>T c.3190G>T (p.Gly1064Trp) c.3103G>T (p.Gly1035Trp) | |
1 | g.9726925G>A | CA338308736 | PIK3CD | c.*2268G>A (n.*2268G>A) c.2918G>A (p.Gly973Glu) c.3011G>A (p.Gly1004Glu) c.3014G>A (p.Gly1005Glu) c.2870G>A (p.Gly957Glu) c.3002G>A (p.Gly1001Glu) n.2175G>A c.3086G>A (p.Gly1029Glu) c.2927G>A (p.Gly976Glu) c.2366G>A (p.Gly789Glu) n.3099G>A c.3191G>A (p.Gly1064Glu) c.3104G>A (p.Gly1035Glu) | |
1 | g.9726925G>C | CA338308737 | PIK3CD | c.*2268G>C (n.*2268G>C) c.2918G>C (p.Gly973Ala) c.3011G>C (p.Gly1004Ala) c.3014G>C (p.Gly1005Ala) c.2870G>C (p.Gly957Ala) c.3002G>C (p.Gly1001Ala) n.2175G>C c.3086G>C (p.Gly1029Ala) c.2927G>C (p.Gly976Ala) c.2366G>C (p.Gly789Ala) n.3099G>C c.3191G>C (p.Gly1064Ala) c.3104G>C (p.Gly1035Ala) | |
1 | g.9726925G>T | CA338308738 | PIK3CD | c.*2268G>T (n.*2268G>T) c.2918G>T (p.Gly973Val) c.3011G>T (p.Gly1004Val) c.3014G>T (p.Gly1005Val) c.2870G>T (p.Gly957Val) c.3002G>T (p.Gly1001Val) n.2175G>T c.3086G>T (p.Gly1029Val) c.2927G>T (p.Gly976Val) c.2366G>T (p.Gly789Val) n.3099G>T c.3191G>T (p.Gly1064Val) c.3104G>T (p.Gly1035Val) | COSMIC COSMIC |
1 | g.9726926G>A | CA415875862 | PIK3CD | c.*2269G>A (n.*2269G>A) c.2919G>A (p.Gly973=) c.3012G>A (p.Gly1004=) c.3015G>A (p.Gly1005=) c.2871G>A (p.Gly957=) c.3003G>A (p.Gly1001=) n.2176G>A c.3087G>A (p.Gly1029=) c.2928G>A (p.Gly976=) c.2367G>A (p.Gly789=) n.3100G>A c.3192G>A (p.Gly1064=) c.3105G>A (p.Gly1035=) | ClinVar |
1 | g.9726926G>C | CA17787037 | PIK3CD | c.*2269G>C (n.*2269G>C) c.2919G>C (p.Gly973=) c.3012G>C (p.Gly1004=) c.3015G>C (p.Gly1005=) c.2871G>C (p.Gly957=) c.3003G>C (p.Gly1001=) n.2176G>C c.3087G>C (p.Gly1029=) c.2928G>C (p.Gly976=) c.2367G>C (p.Gly789=) n.3100G>C c.3192G>C (p.Gly1064=) c.3105G>C (p.Gly1035=) | dbSNP gnomAD v4 |
1 | g.9726926G= | CA1152936824 | PIK3CD | c.*2269G= (n.*2269G=) c.2919G= (p.Gly973=) c.3012G= (p.Gly1004=) c.3015G= (p.Gly1005=) c.2871G= (p.Gly957=) c.3003G= (p.Gly1001=) n.2176G= c.3087G= (p.Gly1029=) c.2928G= (p.Gly976=) c.2367G= (p.Gly789=) n.3100G= c.3192G= (p.Gly1064=) c.3105G= (p.Gly1035=) | |
1 | g.9726926G>T | CA577719 | PIK3CD | c.*2269G>T (n.*2269G>T) c.2919G>T (p.Gly973=) c.3012G>T (p.Gly1004=) c.3015G>T (p.Gly1005=) c.2871G>T (p.Gly957=) c.3003G>T (p.Gly1001=) n.2176G>T c.3087G>T (p.Gly1029=) c.2928G>T (p.Gly976=) c.2367G>T (p.Gly789=) n.3100G>T c.3192G>T (p.Gly1064=) c.3105G>T (p.Gly1035=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9726927A>C | CA338308739 | PIK3CD | c.*2270A>C (n.*2270A>C) c.2920A>C (p.Lys974Gln) c.3013A>C (p.Lys1005Gln) c.3016A>C (p.Lys1006Gln) c.2872A>C (p.Lys958Gln) c.3004A>C (p.Lys1002Gln) n.2177A>C c.3088A>C (p.Lys1030Gln) c.2929A>C (p.Lys977Gln) c.2368A>C (p.Lys790Gln) n.3101A>C c.3193A>C (p.Lys1065Gln) c.3106A>C (p.Lys1036Gln) | |
1 | g.9726927A>G | CA338308740 | PIK3CD | c.*2270A>G (n.*2270A>G) c.2920A>G (p.Lys974Glu) c.3013A>G (p.Lys1005Glu) c.3016A>G (p.Lys1006Glu) c.2872A>G (p.Lys958Glu) c.3004A>G (p.Lys1002Glu) n.2177A>G c.3088A>G (p.Lys1030Glu) c.2929A>G (p.Lys977Glu) c.2368A>G (p.Lys790Glu) n.3101A>G c.3193A>G (p.Lys1065Glu) c.3106A>G (p.Lys1036Glu) | |
1 | g.9726927A>T | CA338308741 | PIK3CD | c.*2270A>T (n.*2270A>T) c.2920A>T (p.Lys974Ter) c.3013A>T (p.Lys1005Ter) c.3016A>T (p.Lys1006Ter) c.2872A>T (p.Lys958Ter) c.3004A>T (p.Lys1002Ter) n.2177A>T c.3088A>T (p.Lys1030Ter) c.2929A>T (p.Lys977Ter) c.2368A>T (p.Lys790Ter) n.3101A>T c.3193A>T (p.Lys1065Ter) c.3106A>T (p.Lys1036Ter) | |
1 | g.9726928A= | CA1152936826 | PIK3CD | c.*2271A= (n.*2271A=) c.2921A= (p.Lys974=) c.3014A= (p.Lys1005=) c.3017A= (p.Lys1006=) c.2873A= (p.Lys958=) c.3005A= (p.Lys1002=) n.2178A= c.3089A= (p.Lys1030=) c.2930A= (p.Lys977=) c.2369A= (p.Lys790=) n.3102A= c.3194A= (p.Lys1065=) c.3107A= (p.Lys1036=) | |
1 | g.9726928A>C | CA338308743 | PIK3CD | c.*2271A>C (n.*2271A>C) c.2921A>C (p.Lys974Thr) c.3014A>C (p.Lys1005Thr) c.3017A>C (p.Lys1006Thr) c.2873A>C (p.Lys958Thr) c.3005A>C (p.Lys1002Thr) n.2178A>C c.3089A>C (p.Lys1030Thr) c.2930A>C (p.Lys977Thr) c.2369A>C (p.Lys790Thr) n.3102A>C c.3194A>C (p.Lys1065Thr) c.3107A>C (p.Lys1036Thr) | |
1 | g.9726928A>G | CA577720 | PIK3CD | c.*2271A>G (n.*2271A>G) c.2921A>G (p.Lys974Arg) c.3014A>G (p.Lys1005Arg) c.3017A>G (p.Lys1006Arg) c.2873A>G (p.Lys958Arg) c.3005A>G (p.Lys1002Arg) n.2178A>G c.3089A>G (p.Lys1030Arg) c.2930A>G (p.Lys977Arg) c.2369A>G (p.Lys790Arg) n.3102A>G c.3194A>G (p.Lys1065Arg) c.3107A>G (p.Lys1036Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9726928A>T | CA338308742 | PIK3CD | c.*2271A>T (n.*2271A>T) c.2921A>T (p.Lys974Ile) c.3014A>T (p.Lys1005Ile) c.3017A>T (p.Lys1006Ile) c.2873A>T (p.Lys958Ile) c.3005A>T (p.Lys1002Ile) n.2178A>T c.3089A>T (p.Lys1030Ile) c.2930A>T (p.Lys977Ile) c.2369A>T (p.Lys790Ile) n.3102A>T c.3194A>T (p.Lys1065Ile) c.3107A>T (p.Lys1036Ile) | |
1 | g.9726929A>C | CA338308744 | PIK3CD | c.*2272A>C (n.*2272A>C) c.2922A>C (p.Lys974Asn) c.3015A>C (p.Lys1005Asn) c.3018A>C (p.Lys1006Asn) c.2874A>C (p.Lys958Asn) c.3006A>C (p.Lys1002Asn) n.2179A>C c.3090A>C (p.Lys1030Asn) c.2931A>C (p.Lys977Asn) c.2370A>C (p.Lys790Asn) n.3103A>C c.3195A>C (p.Lys1065Asn) c.3108A>C (p.Lys1036Asn) | |
1 | g.9726929A>G | CA415875875 | PIK3CD | c.*2272A>G (n.*2272A>G) c.2922A>G (p.Lys974=) c.3015A>G (p.Lys1005=) c.3018A>G (p.Lys1006=) c.2874A>G (p.Lys958=) c.3006A>G (p.Lys1002=) n.2179A>G c.3090A>G (p.Lys1030=) c.2931A>G (p.Lys977=) c.2370A>G (p.Lys790=) n.3103A>G c.3195A>G (p.Lys1065=) c.3108A>G (p.Lys1036=) | |
1 | g.9726929A>T | CA338308745 | PIK3CD | c.*2272A>T (n.*2272A>T) c.2922A>T (p.Lys974Asn) c.3015A>T (p.Lys1005Asn) c.3018A>T (p.Lys1006Asn) c.2874A>T (p.Lys958Asn) c.3006A>T (p.Lys1002Asn) n.2179A>T c.3090A>T (p.Lys1030Asn) c.2931A>T (p.Lys977Asn) c.2370A>T (p.Lys790Asn) n.3103A>T c.3195A>T (p.Lys1065Asn) c.3108A>T (p.Lys1036Asn) | |
1 | g.9726930A>C | CA338308746 | PIK3CD | c.*2273A>C (n.*2273A>C) c.2923A>C (p.Thr975Pro) c.3016A>C (p.Thr1006Pro) c.3019A>C (p.Thr1007Pro) c.2875A>C (p.Thr959Pro) c.3007A>C (p.Thr1003Pro) n.2180A>C c.3091A>C (p.Thr1031Pro) c.2932A>C (p.Thr978Pro) c.2371A>C (p.Thr791Pro) n.3104A>C c.3196A>C (p.Thr1066Pro) c.3109A>C (p.Thr1037Pro) | |
1 | g.9726930A>G | CA338308747 | PIK3CD | c.*2273A>G (n.*2273A>G) c.2923A>G (p.Thr975Ala) c.3016A>G (p.Thr1006Ala) c.3019A>G (p.Thr1007Ala) c.2875A>G (p.Thr959Ala) c.3007A>G (p.Thr1003Ala) n.2180A>G c.3091A>G (p.Thr1031Ala) c.2932A>G (p.Thr978Ala) c.2371A>G (p.Thr791Ala) n.3104A>G c.3196A>G (p.Thr1066Ala) c.3109A>G (p.Thr1037Ala) | |
1 | g.9726930A>T | CA338308748 | PIK3CD | c.*2273A>T (n.*2273A>T) c.2923A>T (p.Thr975Ser) c.3016A>T (p.Thr1006Ser) c.3019A>T (p.Thr1007Ser) c.2875A>T (p.Thr959Ser) c.3007A>T (p.Thr1003Ser) n.2180A>T c.3091A>T (p.Thr1031Ser) c.2932A>T (p.Thr978Ser) c.2371A>T (p.Thr791Ser) n.3104A>T c.3196A>T (p.Thr1066Ser) c.3109A>T (p.Thr1037Ser) | |
1 | g.9726931C>A | CA338308750 | PIK3CD | c.*2274C>A (n.*2274C>A) c.2924C>A (p.Thr975Lys) c.3017C>A (p.Thr1006Lys) c.3020C>A (p.Thr1007Lys) c.2876C>A (p.Thr959Lys) c.3008C>A (p.Thr1003Lys) n.2181C>A c.3092C>A (p.Thr1031Lys) c.2933C>A (p.Thr978Lys) c.2372C>A (p.Thr791Lys) n.3105C>A c.3197C>A (p.Thr1066Lys) c.3110C>A (p.Thr1037Lys) | |
1 | g.9726931C= | CA1152936828 | PIK3CD | c.*2274C= (n.*2274C=) c.2924C= (p.Thr975=) c.3017C= (p.Thr1006=) c.3020C= (p.Thr1007=) c.2876C= (p.Thr959=) c.3008C= (p.Thr1003=) n.2181C= c.3092C= (p.Thr1031=) c.2933C= (p.Thr978=) c.2372C= (p.Thr791=) n.3105C= c.3197C= (p.Thr1066=) c.3110C= (p.Thr1037=) | |
1 | g.9726931C>G | CA577721 | PIK3CD | c.*2274C>G (n.*2274C>G) c.2924C>G (p.Thr975Arg) c.3017C>G (p.Thr1006Arg) c.3020C>G (p.Thr1007Arg) c.2876C>G (p.Thr959Arg) c.3008C>G (p.Thr1003Arg) n.2181C>G c.3092C>G (p.Thr1031Arg) c.2933C>G (p.Thr978Arg) c.2372C>G (p.Thr791Arg) n.3105C>G c.3197C>G (p.Thr1066Arg) c.3110C>G (p.Thr1037Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9726931C>T | CA338308749 | PIK3CD | c.*2274C>T (n.*2274C>T) c.2924C>T (p.Thr975Ile) c.3017C>T (p.Thr1006Ile) c.3020C>T (p.Thr1007Ile) c.2876C>T (p.Thr959Ile) c.3008C>T (p.Thr1003Ile) n.2181C>T c.3092C>T (p.Thr1031Ile) c.2933C>T (p.Thr978Ile) c.2372C>T (p.Thr791Ile) n.3105C>T c.3197C>T (p.Thr1066Ile) c.3110C>T (p.Thr1037Ile) | gnomAD v4 |
1 | g.9726932A= | CA1152936830 | PIK3CD | c.*2275A= (n.*2275A=) c.2925A= (p.Thr975=) c.3018A= (p.Thr1006=) c.3021A= (p.Thr1007=) c.2877A= (p.Thr959=) c.3009A= (p.Thr1003=) n.2182A= c.3093A= (p.Thr1031=) c.2934A= (p.Thr978=) c.2373A= (p.Thr791=) n.3106A= c.3198A= (p.Thr1066=) c.3111A= (p.Thr1037=) | |
1 | g.9726932A>C | CA415875889 | PIK3CD | c.*2275A>C (n.*2275A>C) c.2925A>C (p.Thr975=) c.3018A>C (p.Thr1006=) c.3021A>C (p.Thr1007=) c.2877A>C (p.Thr959=) c.3009A>C (p.Thr1003=) n.2182A>C c.3093A>C (p.Thr1031=) c.2934A>C (p.Thr978=) c.2373A>C (p.Thr791=) n.3106A>C c.3198A>C (p.Thr1066=) c.3111A>C (p.Thr1037=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.9726932A>G | CA415875885 | PIK3CD | c.*2275A>G (n.*2275A>G) c.2925A>G (p.Thr975=) c.3018A>G (p.Thr1006=) c.3021A>G (p.Thr1007=) c.2877A>G (p.Thr959=) c.3009A>G (p.Thr1003=) n.2182A>G c.3093A>G (p.Thr1031=) c.2934A>G (p.Thr978=) c.2373A>G (p.Thr791=) n.3106A>G c.3198A>G (p.Thr1066=) c.3111A>G (p.Thr1037=) | gnomAD v4 |
1 | g.9726932A>T | CA415875887 | PIK3CD | c.*2275A>T (n.*2275A>T) c.2925A>T (p.Thr975=) c.3018A>T (p.Thr1006=) c.3021A>T (p.Thr1007=) c.2877A>T (p.Thr959=) c.3009A>T (p.Thr1003=) n.2182A>T c.3093A>T (p.Thr1031=) c.2934A>T (p.Thr978=) c.2373A>T (p.Thr791=) n.3106A>T c.3198A>T (p.Thr1066=) c.3111A>T (p.Thr1037=) | |
1 | g.9726934_9726935del | CA2643143048 | PIK3CD | c.*2277_*2278del (n.*2277_*2278del) c.2927_2928del (p.Glu976GlyfsTer12) c.3020_3021del (p.Glu1007GlyfsTer12) c.3023_3024del (p.Glu1008GlyfsTer12) c.2879_2880del (p.Glu960GlyfsTer12) c.3011_3012del (p.Glu1004GlyfsTer12) n.2184_2185del c.3095_3096del (p.Glu1032GlyfsTer12) c.2936_2937del (p.Glu979GlyfsTer12) c.2375_2376del (p.Glu792GlyfsTer12) n.3108_3109del c.3200_3201del (p.Glu1067GlyfsTer12) c.3113_3114del (p.Glu1038GlyfsTer12) | gnomAD v4 |
1 | g.9726933G>A | CA338308751 | PIK3CD | c.*2276G>A (n.*2276G>A) c.2926G>A (p.Glu976Lys) c.3019G>A (p.Glu1007Lys) c.3022G>A (p.Glu1008Lys) c.2878G>A (p.Glu960Lys) c.3010G>A (p.Glu1004Lys) n.2183G>A c.3094G>A (p.Glu1032Lys) c.2935G>A (p.Glu979Lys) c.2374G>A (p.Glu792Lys) n.3107G>A c.3199G>A (p.Glu1067Lys) c.3112G>A (p.Glu1038Lys) | |
1 | g.9726933G>C | CA338308752 | PIK3CD | c.*2276G>C (n.*2276G>C) c.2926G>C (p.Glu976Gln) c.3019G>C (p.Glu1007Gln) c.3022G>C (p.Glu1008Gln) c.2878G>C (p.Glu960Gln) c.3010G>C (p.Glu1004Gln) n.2183G>C c.3094G>C (p.Glu1032Gln) c.2935G>C (p.Glu979Gln) c.2374G>C (p.Glu792Gln) n.3107G>C c.3199G>C (p.Glu1067Gln) c.3112G>C (p.Glu1038Gln) | |
1 | g.9726933G= | CA1152936833 | PIK3CD | c.*2276G= (n.*2276G=) c.2926G= (p.Glu976=) c.3019G= (p.Glu1007=) c.3022G= (p.Glu1008=) c.2878G= (p.Glu960=) c.3010G= (p.Glu1004=) n.2183G= c.3094G= (p.Glu1032=) c.2935G= (p.Glu979=) c.2374G= (p.Glu792=) n.3107G= c.3199G= (p.Glu1067=) c.3112G= (p.Glu1038=) | |
1 | g.9726933G>T | CA17787054 | PIK3CD | c.*2276G>T (n.*2276G>T) c.2926G>T (p.Glu976Ter) c.3019G>T (p.Glu1007Ter) c.3022G>T (p.Glu1008Ter) c.2878G>T (p.Glu960Ter) c.3010G>T (p.Glu1004Ter) n.2183G>T c.3094G>T (p.Glu1032Ter) c.2935G>T (p.Glu979Ter) c.2374G>T (p.Glu792Ter) n.3107G>T c.3199G>T (p.Glu1067Ter) c.3112G>T (p.Glu1038Ter) | dbSNP |
1 | g.9726940_9726942del | CA2643143055 | PIK3CD | c.*2283_*2285del (n.*2283_*2285del) c.2933_2935del (p.Glu978del) c.3026_3028del (p.Glu1009del) c.3029_3031del (p.Glu1010del) c.2885_2887del (p.Glu962del) c.3017_3019del (p.Glu1006del) n.2190_2192del c.3101_3103del (p.Glu1034del) c.2942_2944del (p.Glu981del) c.2381_2383del (p.Glu794del) n.3114_3116del c.3206_3208del (p.Glu1069del) c.3119_3121del (p.Glu1040del) | gnomAD v4 |
1 | g.9726934A>C | CA338308753 | PIK3CD | c.*2277A>C (n.*2277A>C) c.2927A>C (p.Glu976Ala) c.3020A>C (p.Glu1007Ala) c.3023A>C (p.Glu1008Ala) c.2879A>C (p.Glu960Ala) c.3011A>C (p.Glu1004Ala) n.2184A>C c.3095A>C (p.Glu1032Ala) c.2936A>C (p.Glu979Ala) c.2375A>C (p.Glu792Ala) n.3108A>C c.3200A>C (p.Glu1067Ala) c.3113A>C (p.Glu1038Ala) | |
1 | g.9726934A>G | CA338308754 | PIK3CD | c.*2277A>G (n.*2277A>G) c.2927A>G (p.Glu976Gly) c.3020A>G (p.Glu1007Gly) c.3023A>G (p.Glu1008Gly) c.2879A>G (p.Glu960Gly) c.3011A>G (p.Glu1004Gly) n.2184A>G c.3095A>G (p.Glu1032Gly) c.2936A>G (p.Glu979Gly) c.2375A>G (p.Glu792Gly) n.3108A>G c.3200A>G (p.Glu1067Gly) c.3113A>G (p.Glu1038Gly) | |
1 | g.9726934A>T | CA338308755 | PIK3CD | c.*2277A>T (n.*2277A>T) c.2927A>T (p.Glu976Val) c.3020A>T (p.Glu1007Val) c.3023A>T (p.Glu1008Val) c.2879A>T (p.Glu960Val) c.3011A>T (p.Glu1004Val) n.2184A>T c.3095A>T (p.Glu1032Val) c.2936A>T (p.Glu979Val) c.2375A>T (p.Glu792Val) n.3108A>T c.3200A>T (p.Glu1067Val) c.3113A>T (p.Glu1038Val) | |
1 | g.9726935G>A | CA577722 | PIK3CD | c.*2278G>A (n.*2278G>A) c.2928G>A (p.Glu976=) c.3021G>A (p.Glu1007=) c.3024G>A (p.Glu1008=) c.2880G>A (p.Glu960=) c.3012G>A (p.Glu1004=) n.2185G>A c.3096G>A (p.Glu1032=) c.2937G>A (p.Glu979=) c.2376G>A (p.Glu792=) n.3109G>A c.3201G>A (p.Glu1067=) c.3114G>A (p.Glu1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9726935G>C | CA338308757 | PIK3CD | c.*2278G>C (n.*2278G>C) c.2928G>C (p.Glu976Asp) c.3021G>C (p.Glu1007Asp) c.3024G>C (p.Glu1008Asp) c.2880G>C (p.Glu960Asp) c.3012G>C (p.Glu1004Asp) n.2185G>C c.3096G>C (p.Glu1032Asp) c.2937G>C (p.Glu979Asp) c.2376G>C (p.Glu792Asp) n.3109G>C c.3201G>C (p.Glu1067Asp) c.3114G>C (p.Glu1038Asp) | |
1 | g.9726935G= | CA1142129480 | PIK3CD | c.*2278G= (n.*2278G=) c.2928G= (p.Glu976=) c.3021G= (p.Glu1007=) c.3024G= (p.Glu1008=) c.2880G= (p.Glu960=) c.3012G= (p.Glu1004=) n.2185G= c.3096G= (p.Glu1032=) c.2937G= (p.Glu979=) c.2376G= (p.Glu792=) n.3109G= c.3201G= (p.Glu1067=) c.3114G= (p.Glu1038=) | |
1 | g.9726935G>T | CA338308756 | PIK3CD | c.*2278G>T (n.*2278G>T) c.2928G>T (p.Glu976Asp) c.3021G>T (p.Glu1007Asp) c.3024G>T (p.Glu1008Asp) c.2880G>T (p.Glu960Asp) c.3012G>T (p.Glu1004Asp) n.2185G>T c.3096G>T (p.Glu1032Asp) c.2937G>T (p.Glu979Asp) c.2376G>T (p.Glu792Asp) n.3109G>T c.3201G>T (p.Glu1067Asp) c.3114G>T (p.Glu1038Asp) | |
1 | g.9726936G>A | CA338308758 | PIK3CD | c.*2279G>A (n.*2279G>A) c.2929G>A (p.Glu977Lys) c.3022G>A (p.Glu1008Lys) c.3025G>A (p.Glu1009Lys) c.2881G>A (p.Glu961Lys) c.3013G>A (p.Glu1005Lys) n.2186G>A c.3097G>A (p.Glu1033Lys) c.2938G>A (p.Glu980Lys) c.2377G>A (p.Glu793Lys) n.3110G>A c.3202G>A (p.Glu1068Lys) c.3115G>A (p.Glu1039Lys) | ClinVar gnomAD v4 |
1 | g.9726936G>C | CA338308759 | PIK3CD | c.*2279G>C (n.*2279G>C) c.2929G>C (p.Glu977Gln) c.3022G>C (p.Glu1008Gln) c.3025G>C (p.Glu1009Gln) c.2881G>C (p.Glu961Gln) c.3013G>C (p.Glu1005Gln) n.2186G>C c.3097G>C (p.Glu1033Gln) c.2938G>C (p.Glu980Gln) c.2377G>C (p.Glu793Gln) n.3110G>C c.3202G>C (p.Glu1068Gln) c.3115G>C (p.Glu1039Gln) | |
1 | g.9726936G>T | CA338308760 | PIK3CD | c.*2279G>T (n.*2279G>T) c.2929G>T (p.Glu977Ter) c.3022G>T (p.Glu1008Ter) c.3025G>T (p.Glu1009Ter) c.2881G>T (p.Glu961Ter) c.3013G>T (p.Glu1005Ter) n.2186G>T c.3097G>T (p.Glu1033Ter) c.2938G>T (p.Glu980Ter) c.2377G>T (p.Glu793Ter) n.3110G>T c.3202G>T (p.Glu1068Ter) c.3115G>T (p.Glu1039Ter) | |
1 | g.9726937A>C | CA338308761 | PIK3CD | c.*2280A>C (n.*2280A>C) c.2930A>C (p.Glu977Ala) c.3023A>C (p.Glu1008Ala) c.3026A>C (p.Glu1009Ala) c.2882A>C (p.Glu961Ala) c.3014A>C (p.Glu1005Ala) n.2187A>C c.3098A>C (p.Glu1033Ala) c.2939A>C (p.Glu980Ala) c.2378A>C (p.Glu793Ala) n.3111A>C c.3203A>C (p.Glu1068Ala) c.3116A>C (p.Glu1039Ala) | |
1 | g.9726937A>G | CA338308762 | PIK3CD | c.*2280A>G (n.*2280A>G) c.2930A>G (p.Glu977Gly) c.3023A>G (p.Glu1008Gly) c.3026A>G (p.Glu1009Gly) c.2882A>G (p.Glu961Gly) c.3014A>G (p.Glu1005Gly) n.2187A>G c.3098A>G (p.Glu1033Gly) c.2939A>G (p.Glu980Gly) c.2378A>G (p.Glu793Gly) n.3111A>G c.3203A>G (p.Glu1068Gly) c.3116A>G (p.Glu1039Gly) | |
1 | g.9726937A>T | CA338308763 | PIK3CD | c.*2280A>T (n.*2280A>T) c.2930A>T (p.Glu977Val) c.3023A>T (p.Glu1008Val) c.3026A>T (p.Glu1009Val) c.2882A>T (p.Glu961Val) c.3014A>T (p.Glu1005Val) n.2187A>T c.3098A>T (p.Glu1033Val) c.2939A>T (p.Glu980Val) c.2378A>T (p.Glu793Val) n.3111A>T c.3203A>T (p.Glu1068Val) c.3116A>T (p.Glu1039Val) | |
1 | g.9726938G>A | CA415875913 | PIK3CD | c.*2281G>A (n.*2281G>A) c.2931G>A (p.Glu977=) c.3024G>A (p.Glu1008=) c.3027G>A (p.Glu1009=) c.2883G>A (p.Glu961=) c.3015G>A (p.Glu1005=) n.2188G>A c.3099G>A (p.Glu1033=) c.2940G>A (p.Glu980=) c.2379G>A (p.Glu793=) n.3112G>A c.3204G>A (p.Glu1068=) c.3117G>A (p.Glu1039=) | |
1 | g.9726938G>C | CA338308764 | PIK3CD | c.*2281G>C (n.*2281G>C) c.2931G>C (p.Glu977Asp) c.3024G>C (p.Glu1008Asp) c.3027G>C (p.Glu1009Asp) c.2883G>C (p.Glu961Asp) c.3015G>C (p.Glu1005Asp) n.2188G>C c.3099G>C (p.Glu1033Asp) c.2940G>C (p.Glu980Asp) c.2379G>C (p.Glu793Asp) n.3112G>C c.3204G>C (p.Glu1068Asp) c.3117G>C (p.Glu1039Asp) | |
1 | g.9726938G>T | CA338308765 | PIK3CD | c.*2281G>T (n.*2281G>T) c.2931G>T (p.Glu977Asp) c.3024G>T (p.Glu1008Asp) c.3027G>T (p.Glu1009Asp) c.2883G>T (p.Glu961Asp) c.3015G>T (p.Glu1005Asp) n.2188G>T c.3099G>T (p.Glu1033Asp) c.2940G>T (p.Glu980Asp) c.2379G>T (p.Glu793Asp) n.3112G>T c.3204G>T (p.Glu1068Asp) c.3117G>T (p.Glu1039Asp) | |
1 | g.9726939G>A | CA338308766 | PIK3CD | c.*2282G>A (n.*2282G>A) c.2932G>A (p.Glu978Lys) c.3025G>A (p.Glu1009Lys) c.3028G>A (p.Glu1010Lys) c.2884G>A (p.Glu962Lys) c.3016G>A (p.Glu1006Lys) n.2189G>A c.3100G>A (p.Glu1034Lys) c.2941G>A (p.Glu981Lys) c.2380G>A (p.Glu794Lys) n.3113G>A c.3205G>A (p.Glu1069Lys) c.3118G>A (p.Glu1040Lys) | gnomAD v4 |
1 | g.9726939G>C | CA338308767 | PIK3CD | c.*2282G>C (n.*2282G>C) c.2932G>C (p.Glu978Gln) c.3025G>C (p.Glu1009Gln) c.3028G>C (p.Glu1010Gln) c.2884G>C (p.Glu962Gln) c.3016G>C (p.Glu1006Gln) n.2189G>C c.3100G>C (p.Glu1034Gln) c.2941G>C (p.Glu981Gln) c.2380G>C (p.Glu794Gln) n.3113G>C c.3205G>C (p.Glu1069Gln) c.3118G>C (p.Glu1040Gln) | |
1 | g.9726939G>T | CA338308768 | PIK3CD | c.*2282G>T (n.*2282G>T) c.2932G>T (p.Glu978Ter) c.3025G>T (p.Glu1009Ter) c.3028G>T (p.Glu1010Ter) c.2884G>T (p.Glu962Ter) c.3016G>T (p.Glu1006Ter) n.2189G>T c.3100G>T (p.Glu1034Ter) c.2941G>T (p.Glu981Ter) c.2380G>T (p.Glu794Ter) n.3113G>T c.3205G>T (p.Glu1069Ter) c.3118G>T (p.Glu1040Ter) | |
1 | g.9726940A= | CA1141842609 | PIK3CD | c.*2283A= (n.*2283A=) c.2933A= (p.Glu978=) c.3026A= (p.Glu1009=) c.3029A= (p.Glu1010=) c.2885A= (p.Glu962=) c.3017A= (p.Glu1006=) n.2190A= c.3101A= (p.Glu1034=) c.2942A= (p.Glu981=) c.2381A= (p.Glu794=) n.3114A= c.3206A= (p.Glu1069=) c.3119A= (p.Glu1040=) | |
1 | g.9726940A>C | CA577723 | PIK3CD | c.*2283A>C (n.*2283A>C) c.2933A>C (p.Glu978Ala) c.3026A>C (p.Glu1009Ala) c.3029A>C (p.Glu1010Ala) c.2885A>C (p.Glu962Ala) c.3017A>C (p.Glu1006Ala) n.2190A>C c.3101A>C (p.Glu1034Ala) c.2942A>C (p.Glu981Ala) c.2381A>C (p.Glu794Ala) n.3114A>C c.3206A>C (p.Glu1069Ala) c.3119A>C (p.Glu1040Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9726940A>G | CA338308770 | PIK3CD | c.*2283A>G (n.*2283A>G) c.2933A>G (p.Glu978Gly) c.3026A>G (p.Glu1009Gly) c.3029A>G (p.Glu1010Gly) c.2885A>G (p.Glu962Gly) c.3017A>G (p.Glu1006Gly) n.2190A>G c.3101A>G (p.Glu1034Gly) c.2942A>G (p.Glu981Gly) c.2381A>G (p.Glu794Gly) n.3114A>G c.3206A>G (p.Glu1069Gly) c.3119A>G (p.Glu1040Gly) | |
1 | g.9726940A>T | CA338308769 | PIK3CD | c.*2283A>T (n.*2283A>T) c.2933A>T (p.Glu978Val) c.3026A>T (p.Glu1009Val) c.3029A>T (p.Glu1010Val) c.2885A>T (p.Glu962Val) c.3017A>T (p.Glu1006Val) n.2190A>T c.3101A>T (p.Glu1034Val) c.2942A>T (p.Glu981Val) c.2381A>T (p.Glu794Val) n.3114A>T c.3206A>T (p.Glu1069Val) c.3119A>T (p.Glu1040Val) | gnomAD v4 |
1 | g.9726941G>A | CA415875924 | PIK3CD | c.*2284G>A (n.*2284G>A) c.2934G>A (p.Glu978=) c.3027G>A (p.Glu1009=) c.3030G>A (p.Glu1010=) c.2886G>A (p.Glu962=) c.3018G>A (p.Glu1006=) n.2191G>A c.3102G>A (p.Glu1034=) c.2943G>A (p.Glu981=) c.2382G>A (p.Glu794=) n.3115G>A c.3207G>A (p.Glu1069=) c.3120G>A (p.Glu1040=) | ClinVar dbSNP |
1 | g.9726941G>C | CA338308771 | PIK3CD | c.*2284G>C (n.*2284G>C) c.2934G>C (p.Glu978Asp) c.3027G>C (p.Glu1009Asp) c.3030G>C (p.Glu1010Asp) c.2886G>C (p.Glu962Asp) c.3018G>C (p.Glu1006Asp) n.2191G>C c.3102G>C (p.Glu1034Asp) c.2943G>C (p.Glu981Asp) c.2382G>C (p.Glu794Asp) n.3115G>C c.3207G>C (p.Glu1069Asp) c.3120G>C (p.Glu1040Asp) | |
1 | g.9726941G>T | CA338308772 | PIK3CD | c.*2284G>T (n.*2284G>T) c.2934G>T (p.Glu978Asp) c.3027G>T (p.Glu1009Asp) c.3030G>T (p.Glu1010Asp) c.2886G>T (p.Glu962Asp) c.3018G>T (p.Glu1006Asp) n.2191G>T c.3102G>T (p.Glu1034Asp) c.2943G>T (p.Glu981Asp) c.2382G>T (p.Glu794Asp) n.3115G>T c.3207G>T (p.Glu1069Asp) c.3120G>T (p.Glu1040Asp) | |
1 | g.9726942G>A | CA338308773 | PIK3CD | c.*2285G>A (n.*2285G>A) c.2935G>A (p.Ala979Thr) c.3028G>A (p.Ala1010Thr) c.3031G>A (p.Ala1011Thr) c.2887G>A (p.Ala963Thr) c.3019G>A (p.Ala1007Thr) n.2192G>A c.3103G>A (p.Ala1035Thr) c.2944G>A (p.Ala982Thr) c.2383G>A (p.Ala795Thr) n.3116G>A c.3208G>A (p.Ala1070Thr) c.3121G>A (p.Ala1041Thr) | |
1 | g.9726942G>C | CA338308775 | PIK3CD | c.*2285G>C (n.*2285G>C) c.2935G>C (p.Ala979Pro) c.3028G>C (p.Ala1010Pro) c.3031G>C (p.Ala1011Pro) c.2887G>C (p.Ala963Pro) c.3019G>C (p.Ala1007Pro) n.2192G>C c.3103G>C (p.Ala1035Pro) c.2944G>C (p.Ala982Pro) c.2383G>C (p.Ala795Pro) n.3116G>C c.3208G>C (p.Ala1070Pro) c.3121G>C (p.Ala1041Pro) | |
1 | g.9726942G>T | CA338308774 | PIK3CD | c.*2285G>T (n.*2285G>T) c.2935G>T (p.Ala979Ser) c.3028G>T (p.Ala1010Ser) c.3031G>T (p.Ala1011Ser) c.2887G>T (p.Ala963Ser) c.3019G>T (p.Ala1007Ser) n.2192G>T c.3103G>T (p.Ala1035Ser) c.2944G>T (p.Ala982Ser) c.2383G>T (p.Ala795Ser) n.3116G>T c.3208G>T (p.Ala1070Ser) c.3121G>T (p.Ala1041Ser) | |
1 | g.9726943C>A | CA338308776 | PIK3CD | c.*2286C>A (n.*2286C>A) c.2936C>A (p.Ala979Glu) c.3029C>A (p.Ala1010Glu) c.3032C>A (p.Ala1011Glu) c.2888C>A (p.Ala963Glu) c.3020C>A (p.Ala1007Glu) n.2193C>A c.3104C>A (p.Ala1035Glu) c.2945C>A (p.Ala982Glu) c.2384C>A (p.Ala795Glu) n.3117C>A c.3209C>A (p.Ala1070Glu) c.3122C>A (p.Ala1041Glu) | |
1 | g.9726943C>G | CA338308777 | PIK3CD | c.*2286C>G (n.*2286C>G) c.2936C>G (p.Ala979Gly) c.3029C>G (p.Ala1010Gly) c.3032C>G (p.Ala1011Gly) c.2888C>G (p.Ala963Gly) c.3020C>G (p.Ala1007Gly) n.2193C>G c.3104C>G (p.Ala1035Gly) c.2945C>G (p.Ala982Gly) c.2384C>G (p.Ala795Gly) n.3117C>G c.3209C>G (p.Ala1070Gly) c.3122C>G (p.Ala1041Gly) | |
1 | g.9726943C>T | CA338308778 | PIK3CD | c.*2286C>T (n.*2286C>T) c.2936C>T (p.Ala979Val) c.3029C>T (p.Ala1010Val) c.3032C>T (p.Ala1011Val) c.2888C>T (p.Ala963Val) c.3020C>T (p.Ala1007Val) n.2193C>T c.3104C>T (p.Ala1035Val) c.2945C>T (p.Ala982Val) c.2384C>T (p.Ala795Val) n.3117C>T c.3209C>T (p.Ala1070Val) c.3122C>T (p.Ala1041Val) | |
1 | g.9726944A= | CA1152936850 | PIK3CD | c.*2287A= (n.*2287A=) c.2937A= (p.Ala979=) c.3030A= (p.Ala1010=) c.3033A= (p.Ala1011=) c.2889A= (p.Ala963=) c.3021A= (p.Ala1007=) n.2194A= c.3105A= (p.Ala1035=) c.2946A= (p.Ala982=) c.2385A= (p.Ala795=) n.3118A= c.3210A= (p.Ala1070=) c.3123A= (p.Ala1041=) | |
1 | g.9726944A>C | CA415875934 | PIK3CD | c.*2287A>C (n.*2287A>C) c.2937A>C (p.Ala979=) c.3030A>C (p.Ala1010=) c.3033A>C (p.Ala1011=) c.2889A>C (p.Ala963=) c.3021A>C (p.Ala1007=) n.2194A>C c.3105A>C (p.Ala1035=) c.2946A>C (p.Ala982=) c.2385A>C (p.Ala795=) n.3118A>C c.3210A>C (p.Ala1070=) c.3123A>C (p.Ala1041=) | |
1 | g.9726944A>G | CA415875936 | PIK3CD | c.*2287A>G (n.*2287A>G) c.2937A>G (p.Ala979=) c.3030A>G (p.Ala1010=) c.3033A>G (p.Ala1011=) c.2889A>G (p.Ala963=) c.3021A>G (p.Ala1007=) n.2194A>G c.3105A>G (p.Ala1035=) c.2946A>G (p.Ala982=) c.2385A>G (p.Ala795=) n.3118A>G c.3210A>G (p.Ala1070=) c.3123A>G (p.Ala1041=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9726944A>T | CA415875938 | PIK3CD | c.*2287A>T (n.*2287A>T) c.2937A>T (p.Ala979=) c.3030A>T (p.Ala1010=) c.3033A>T (p.Ala1011=) c.2889A>T (p.Ala963=) c.3021A>T (p.Ala1007=) n.2194A>T c.3105A>T (p.Ala1035=) c.2946A>T (p.Ala982=) c.2385A>T (p.Ala795=) n.3118A>T c.3210A>T (p.Ala1070=) c.3123A>T (p.Ala1041=) | |
1 | g.9726945C>A | CA338308779 | PIK3CD | c.*2288C>A (n.*2288C>A) c.2938C>A (p.Leu980Met) c.3031C>A (p.Leu1011Met) c.3034C>A (p.Leu1012Met) c.2890C>A (p.Leu964Met) c.3022C>A (p.Leu1008Met) n.2195C>A c.3106C>A (p.Leu1036Met) c.2947C>A (p.Leu983Met) c.2386C>A (p.Leu796Met) n.3119C>A c.3211C>A (p.Leu1071Met) c.3124C>A (p.Leu1042Met) | |
1 | g.9726945C>G | CA338308780 | PIK3CD | c.*2288C>G (n.*2288C>G) c.2938C>G (p.Leu980Val) c.3031C>G (p.Leu1011Val) c.3034C>G (p.Leu1012Val) c.2890C>G (p.Leu964Val) c.3022C>G (p.Leu1008Val) n.2195C>G c.3106C>G (p.Leu1036Val) c.2947C>G (p.Leu983Val) c.2386C>G (p.Leu796Val) n.3119C>G c.3211C>G (p.Leu1071Val) c.3124C>G (p.Leu1042Val) | gnomAD v4 |
1 | g.9726945C>T | CA415875940 | PIK3CD | c.*2288C>T (n.*2288C>T) c.2938C>T (p.Leu980=) c.3031C>T (p.Leu1011=) c.3034C>T (p.Leu1012=) c.2890C>T (p.Leu964=) c.3022C>T (p.Leu1008=) n.2195C>T c.3106C>T (p.Leu1036=) c.2947C>T (p.Leu983=) c.2386C>T (p.Leu796=) n.3119C>T c.3211C>T (p.Leu1071=) c.3124C>T (p.Leu1042=) | |
1 | g.9726946T>A | CA338308781 | PIK3CD | c.*2289T>A (n.*2289T>A) c.2939T>A (p.Leu980Gln) c.3032T>A (p.Leu1011Gln) c.3035T>A (p.Leu1012Gln) c.2891T>A (p.Leu964Gln) c.3023T>A (p.Leu1008Gln) n.2196T>A c.3107T>A (p.Leu1036Gln) c.2948T>A (p.Leu983Gln) c.2387T>A (p.Leu796Gln) n.3120T>A c.3212T>A (p.Leu1071Gln) c.3125T>A (p.Leu1042Gln) | |
1 | g.9726946T>C | CA338308782 | PIK3CD | c.*2289T>C (n.*2289T>C) c.2939T>C (p.Leu980Pro) c.3032T>C (p.Leu1011Pro) c.3035T>C (p.Leu1012Pro) c.2891T>C (p.Leu964Pro) c.3023T>C (p.Leu1008Pro) n.2196T>C c.3107T>C (p.Leu1036Pro) c.2948T>C (p.Leu983Pro) c.2387T>C (p.Leu796Pro) n.3120T>C c.3212T>C (p.Leu1071Pro) c.3125T>C (p.Leu1042Pro) | |
1 | g.9726946T>G | CA338308783 | PIK3CD | c.*2289T>G (n.*2289T>G) c.2939T>G (p.Leu980Arg) c.3032T>G (p.Leu1011Arg) c.3035T>G (p.Leu1012Arg) c.2891T>G (p.Leu964Arg) c.3023T>G (p.Leu1008Arg) n.2196T>G c.3107T>G (p.Leu1036Arg) c.2948T>G (p.Leu983Arg) c.2387T>G (p.Leu796Arg) n.3120T>G c.3212T>G (p.Leu1071Arg) c.3125T>G (p.Leu1042Arg) | gnomAD v4 |
1 | g.9726947G>A | CA577724 | PIK3CD | c.*2290G>A (n.*2290G>A) c.2940G>A (p.Leu980=) c.3033G>A (p.Leu1011=) c.3036G>A (p.Leu1012=) c.2892G>A (p.Leu964=) c.3024G>A (p.Leu1008=) n.2197G>A c.3108G>A (p.Leu1036=) c.2949G>A (p.Leu983=) c.2388G>A (p.Leu796=) n.3121G>A c.3213G>A (p.Leu1071=) c.3126G>A (p.Leu1042=) | dbSNP ExAC gnomAD v2 |
1 | g.9726947G>C | CA415875945 | PIK3CD | c.*2290G>C (n.*2290G>C) c.2940G>C (p.Leu980=) c.3033G>C (p.Leu1011=) c.3036G>C (p.Leu1012=) c.2892G>C (p.Leu964=) c.3024G>C (p.Leu1008=) n.2197G>C c.3108G>C (p.Leu1036=) c.2949G>C (p.Leu983=) c.2388G>C (p.Leu796=) n.3121G>C c.3213G>C (p.Leu1071=) c.3126G>C (p.Leu1042=) | |
1 | g.9726947G= | CA1144008020 | PIK3CD | c.*2290G= (n.*2290G=) c.2940G= (p.Leu980=) c.3033G= (p.Leu1011=) c.3036G= (p.Leu1012=) c.2892G= (p.Leu964=) c.3024G= (p.Leu1008=) n.2197G= c.3108G= (p.Leu1036=) c.2949G= (p.Leu983=) c.2388G= (p.Leu796=) n.3121G= c.3213G= (p.Leu1071=) c.3126G= (p.Leu1042=) | |
1 | g.9726947G>T | CA415875947 | PIK3CD | c.*2290G>T (n.*2290G>T) c.2940G>T (p.Leu980=) c.3033G>T (p.Leu1011=) c.3036G>T (p.Leu1012=) c.2892G>T (p.Leu964=) c.3024G>T (p.Leu1008=) n.2197G>T c.3108G>T (p.Leu1036=) c.2949G>T (p.Leu983=) c.2388G>T (p.Leu796=) n.3121G>T c.3213G>T (p.Leu1071=) c.3126G>T (p.Leu1042=) | |
1 | g.9726948A>C | CA338308784 | PIK3CD | c.*2291A>C (n.*2291A>C) c.2941A>C (p.Lys981Gln) c.3034A>C (p.Lys1012Gln) c.3037A>C (p.Lys1013Gln) c.2893A>C (p.Lys965Gln) c.3025A>C (p.Lys1009Gln) n.2198A>C c.3109A>C (p.Lys1037Gln) c.2950A>C (p.Lys984Gln) c.2389A>C (p.Lys797Gln) n.3122A>C c.3214A>C (p.Lys1072Gln) c.3127A>C (p.Lys1043Gln) | |
1 | g.9726948A>G | CA338308785 | PIK3CD | c.*2291A>G (n.*2291A>G) c.2941A>G (p.Lys981Glu) c.3034A>G (p.Lys1012Glu) c.3037A>G (p.Lys1013Glu) c.2893A>G (p.Lys965Glu) c.3025A>G (p.Lys1009Glu) n.2198A>G c.3109A>G (p.Lys1037Glu) c.2950A>G (p.Lys984Glu) c.2389A>G (p.Lys797Glu) n.3122A>G c.3214A>G (p.Lys1072Glu) c.3127A>G (p.Lys1043Glu) | |
1 | g.9726948A>T | CA338308786 | PIK3CD | c.*2291A>T (n.*2291A>T) c.2941A>T (p.Lys981Ter) c.3034A>T (p.Lys1012Ter) c.3037A>T (p.Lys1013Ter) c.2893A>T (p.Lys965Ter) c.3025A>T (p.Lys1009Ter) n.2198A>T c.3109A>T (p.Lys1037Ter) c.2950A>T (p.Lys984Ter) c.2389A>T (p.Lys797Ter) n.3122A>T c.3214A>T (p.Lys1072Ter) c.3127A>T (p.Lys1043Ter) | |
1 | g.9726949A>C | CA338308789 | PIK3CD | c.*2292A>C (n.*2292A>C) c.2942A>C (p.Lys981Thr) c.3035A>C (p.Lys1012Thr) c.3038A>C (p.Lys1013Thr) c.2894A>C (p.Lys965Thr) c.3026A>C (p.Lys1009Thr) n.2199A>C c.3110A>C (p.Lys1037Thr) c.2951A>C (p.Lys984Thr) c.2390A>C (p.Lys797Thr) n.3123A>C c.3215A>C (p.Lys1072Thr) c.3128A>C (p.Lys1043Thr) | |
1 | g.9726949A>G | CA338308788 | PIK3CD | c.*2292A>G (n.*2292A>G) c.2942A>G (p.Lys981Arg) c.3035A>G (p.Lys1012Arg) c.3038A>G (p.Lys1013Arg) c.2894A>G (p.Lys965Arg) c.3026A>G (p.Lys1009Arg) n.2199A>G c.3110A>G (p.Lys1037Arg) c.2951A>G (p.Lys984Arg) c.2390A>G (p.Lys797Arg) n.3123A>G c.3215A>G (p.Lys1072Arg) c.3128A>G (p.Lys1043Arg) | |
1 | g.9726949A>T | CA338308787 | PIK3CD | c.*2292A>T (n.*2292A>T) c.2942A>T (p.Lys981Met) c.3035A>T (p.Lys1012Met) c.3038A>T (p.Lys1013Met) c.2894A>T (p.Lys965Met) c.3026A>T (p.Lys1009Met) n.2199A>T c.3110A>T (p.Lys1037Met) c.2951A>T (p.Lys984Met) c.2390A>T (p.Lys797Met) n.3123A>T c.3215A>T (p.Lys1072Met) c.3128A>T (p.Lys1043Met) | |
1 | g.9726950G>A | CA415875958 | PIK3CD | c.*2293G>A (n.*2293G>A) c.2943G>A (p.Lys981=) c.3036G>A (p.Lys1012=) c.3039G>A (p.Lys1013=) c.2895G>A (p.Lys965=) c.3027G>A (p.Lys1009=) n.2200G>A c.3111G>A (p.Lys1037=) c.2952G>A (p.Lys984=) c.2391G>A (p.Lys797=) n.3124G>A c.3216G>A (p.Lys1072=) c.3129G>A (p.Lys1043=) | |
1 | g.9726950G>C | CA338308790 | PIK3CD | c.*2293G>C (n.*2293G>C) c.2943G>C (p.Lys981Asn) c.3036G>C (p.Lys1012Asn) c.3039G>C (p.Lys1013Asn) c.2895G>C (p.Lys965Asn) c.3027G>C (p.Lys1009Asn) n.2200G>C c.3111G>C (p.Lys1037Asn) c.2952G>C (p.Lys984Asn) c.2391G>C (p.Lys797Asn) n.3124G>C c.3216G>C (p.Lys1072Asn) c.3129G>C (p.Lys1043Asn) | |
1 | g.9726950G>T | CA338308791 | PIK3CD | c.*2293G>T (n.*2293G>T) c.2943G>T (p.Lys981Asn) c.3036G>T (p.Lys1012Asn) c.3039G>T (p.Lys1013Asn) c.2895G>T (p.Lys965Asn) c.3027G>T (p.Lys1009Asn) n.2200G>T c.3111G>T (p.Lys1037Asn) c.2952G>T (p.Lys984Asn) c.2391G>T (p.Lys797Asn) n.3124G>T c.3216G>T (p.Lys1072Asn) c.3129G>T (p.Lys1043Asn) | |
1 | g.9726951C>A | CA338308792 | PIK3CD | c.*2294C>A (n.*2294C>A) c.2944C>A (p.His982Asn) c.3037C>A (p.His1013Asn) c.3040C>A (p.His1014Asn) c.2896C>A (p.His966Asn) c.3028C>A (p.His1010Asn) n.2201C>A c.3112C>A (p.His1038Asn) c.2953C>A (p.His985Asn) c.2392C>A (p.His798Asn) n.3125C>A c.3217C>A (p.His1073Asn) c.3130C>A (p.His1044Asn) | |
1 | g.9726951C>G | CA338308793 | PIK3CD | c.*2294C>G (n.*2294C>G) c.2944C>G (p.His982Asp) c.3037C>G (p.His1013Asp) c.3040C>G (p.His1014Asp) c.2896C>G (p.His966Asp) c.3028C>G (p.His1010Asp) n.2201C>G c.3112C>G (p.His1038Asp) c.2953C>G (p.His985Asp) c.2392C>G (p.His798Asp) n.3125C>G c.3217C>G (p.His1073Asp) c.3130C>G (p.His1044Asp) | |
1 | g.9726951C>T | CA338308794 | PIK3CD | c.*2294C>T (n.*2294C>T) c.2944C>T (p.His982Tyr) c.3037C>T (p.His1013Tyr) c.3040C>T (p.His1014Tyr) c.2896C>T (p.His966Tyr) c.3028C>T (p.His1010Tyr) n.2201C>T c.3112C>T (p.His1038Tyr) c.2953C>T (p.His985Tyr) c.2392C>T (p.His798Tyr) n.3125C>T c.3217C>T (p.His1073Tyr) c.3130C>T (p.His1044Tyr) | |
1 | g.9726952A>C | CA338308795 | PIK3CD | c.*2295A>C (n.*2295A>C) c.2945A>C (p.His982Pro) c.3038A>C (p.His1013Pro) c.3041A>C (p.His1014Pro) c.2897A>C (p.His966Pro) c.3029A>C (p.His1010Pro) n.2202A>C c.3113A>C (p.His1038Pro) c.2954A>C (p.His985Pro) c.2393A>C (p.His798Pro) n.3126A>C c.3218A>C (p.His1073Pro) c.3131A>C (p.His1044Pro) | |
1 | g.9726952A>G | CA338308796 | PIK3CD | c.*2295A>G (n.*2295A>G) c.2945A>G (p.His982Arg) c.3038A>G (p.His1013Arg) c.3041A>G (p.His1014Arg) c.2897A>G (p.His966Arg) c.3029A>G (p.His1010Arg) n.2202A>G c.3113A>G (p.His1038Arg) c.2954A>G (p.His985Arg) c.2393A>G (p.His798Arg) n.3126A>G c.3218A>G (p.His1073Arg) c.3131A>G (p.His1044Arg) | |
1 | g.9726952A>T | CA338308797 | PIK3CD | c.*2295A>T (n.*2295A>T) c.2945A>T (p.His982Leu) c.3038A>T (p.His1013Leu) c.3041A>T (p.His1014Leu) c.2897A>T (p.His966Leu) c.3029A>T (p.His1010Leu) n.2202A>T c.3113A>T (p.His1038Leu) c.2954A>T (p.His985Leu) c.2393A>T (p.His798Leu) n.3126A>T c.3218A>T (p.His1073Leu) c.3131A>T (p.His1044Leu) | |
1 | g.9726953C>A | CA338308798 | PIK3CD | c.*2296C>A (n.*2296C>A) c.2946C>A (p.His982Gln) c.3039C>A (p.His1013Gln) c.3042C>A (p.His1014Gln) c.2898C>A (p.His966Gln) c.3030C>A (p.His1010Gln) n.2203C>A c.3114C>A (p.His1038Gln) c.2955C>A (p.His985Gln) c.2394C>A (p.His798Gln) n.3127C>A c.3219C>A (p.His1073Gln) c.3132C>A (p.His1044Gln) | |
1 | g.9726953C>G | CA338308799 | PIK3CD | c.*2296C>G (n.*2296C>G) c.2946C>G (p.His982Gln) c.3039C>G (p.His1013Gln) c.3042C>G (p.His1014Gln) c.2898C>G (p.His966Gln) c.3030C>G (p.His1010Gln) n.2203C>G c.3114C>G (p.His1038Gln) c.2955C>G (p.His985Gln) c.2394C>G (p.His798Gln) n.3127C>G c.3219C>G (p.His1073Gln) c.3132C>G (p.His1044Gln) | |
1 | g.9726953C>T | CA415875969 | PIK3CD | c.*2296C>T (n.*2296C>T) c.2946C>T (p.His982=) c.3039C>T (p.His1013=) c.3042C>T (p.His1014=) c.2898C>T (p.His966=) c.3030C>T (p.His1010=) n.2203C>T c.3114C>T (p.His1038=) c.2955C>T (p.His985=) c.2394C>T (p.His798=) n.3127C>T c.3219C>T (p.His1073=) c.3132C>T (p.His1044=) | |
1 | g.9726954T>A | CA338308800 | PIK3CD | c.*2297T>A (n.*2297T>A) c.2947T>A (p.Phe983Ile) c.3040T>A (p.Phe1014Ile) c.3043T>A (p.Phe1015Ile) c.2899T>A (p.Phe967Ile) c.3031T>A (p.Phe1011Ile) n.2204T>A c.3115T>A (p.Phe1039Ile) c.2956T>A (p.Phe986Ile) c.2395T>A (p.Phe799Ile) n.3128T>A c.3220T>A (p.Phe1074Ile) c.3133T>A (p.Phe1045Ile) | |
1 | g.9726954T>C | CA338308801 | PIK3CD | c.*2297T>C (n.*2297T>C) c.2947T>C (p.Phe983Leu) c.3040T>C (p.Phe1014Leu) c.3043T>C (p.Phe1015Leu) c.2899T>C (p.Phe967Leu) c.3031T>C (p.Phe1011Leu) n.2204T>C c.3115T>C (p.Phe1039Leu) c.2956T>C (p.Phe986Leu) c.2395T>C (p.Phe799Leu) n.3128T>C c.3220T>C (p.Phe1074Leu) c.3133T>C (p.Phe1045Leu) | |
1 | g.9726954T>G | CA338308802 | PIK3CD | c.*2297T>G (n.*2297T>G) c.2947T>G (p.Phe983Val) c.3040T>G (p.Phe1014Val) c.3043T>G (p.Phe1015Val) c.2899T>G (p.Phe967Val) c.3031T>G (p.Phe1011Val) n.2204T>G c.3115T>G (p.Phe1039Val) c.2956T>G (p.Phe986Val) c.2395T>G (p.Phe799Val) n.3128T>G c.3220T>G (p.Phe1074Val) c.3133T>G (p.Phe1045Val) | |
1 | g.9726955T>A | CA338308804 | PIK3CD | c.*2298T>A (n.*2298T>A) c.2948T>A (p.Phe983Tyr) c.3041T>A (p.Phe1014Tyr) c.3044T>A (p.Phe1015Tyr) c.2900T>A (p.Phe967Tyr) c.3032T>A (p.Phe1011Tyr) n.2205T>A c.3116T>A (p.Phe1039Tyr) c.2957T>A (p.Phe986Tyr) c.2396T>A (p.Phe799Tyr) n.3129T>A c.3221T>A (p.Phe1074Tyr) c.3134T>A (p.Phe1045Tyr) | |
1 | g.9726955T>C | CA338308805 | PIK3CD | c.*2298T>C (n.*2298T>C) c.2948T>C (p.Phe983Ser) c.3041T>C (p.Phe1014Ser) c.3044T>C (p.Phe1015Ser) c.2900T>C (p.Phe967Ser) c.3032T>C (p.Phe1011Ser) n.2205T>C c.3116T>C (p.Phe1039Ser) c.2957T>C (p.Phe986Ser) c.2396T>C (p.Phe799Ser) n.3129T>C c.3221T>C (p.Phe1074Ser) c.3134T>C (p.Phe1045Ser) | |
1 | g.9726955T>G | CA338308803 | PIK3CD | c.*2298T>G (n.*2298T>G) c.2948T>G (p.Phe983Cys) c.3041T>G (p.Phe1014Cys) c.3044T>G (p.Phe1015Cys) c.2900T>G (p.Phe967Cys) c.3032T>G (p.Phe1011Cys) n.2205T>G c.3116T>G (p.Phe1039Cys) c.2957T>G (p.Phe986Cys) c.2396T>G (p.Phe799Cys) n.3129T>G c.3221T>G (p.Phe1074Cys) c.3134T>G (p.Phe1045Cys) | |
1 | g.9726956C>A | CA338308806 | PIK3CD | c.*2299C>A (n.*2299C>A) c.2949C>A (p.Phe983Leu) c.3042C>A (p.Phe1014Leu) c.3045C>A (p.Phe1015Leu) c.2901C>A (p.Phe967Leu) c.3033C>A (p.Phe1011Leu) n.2206C>A c.3117C>A (p.Phe1039Leu) c.2958C>A (p.Phe986Leu) c.2397C>A (p.Phe799Leu) n.3130C>A c.3222C>A (p.Phe1074Leu) c.3135C>A (p.Phe1045Leu) | ClinVar |
1 | g.9726956C>G | CA338308807 | PIK3CD | c.*2299C>G (n.*2299C>G) c.2949C>G (p.Phe983Leu) c.3042C>G (p.Phe1014Leu) c.3045C>G (p.Phe1015Leu) c.2901C>G (p.Phe967Leu) c.3033C>G (p.Phe1011Leu) n.2206C>G c.3117C>G (p.Phe1039Leu) c.2958C>G (p.Phe986Leu) c.2397C>G (p.Phe799Leu) n.3130C>G c.3222C>G (p.Phe1074Leu) c.3135C>G (p.Phe1045Leu) | |
1 | g.9726956C>T | CA415875979 | PIK3CD | c.*2299C>T (n.*2299C>T) c.2949C>T (p.Phe983=) c.3042C>T (p.Phe1014=) c.3045C>T (p.Phe1015=) c.2901C>T (p.Phe967=) c.3033C>T (p.Phe1011=) n.2206C>T c.3117C>T (p.Phe1039=) c.2958C>T (p.Phe986=) c.2397C>T (p.Phe799=) n.3130C>T c.3222C>T (p.Phe1074=) c.3135C>T (p.Phe1045=) | |
1 | g.9726957C>A | CA415875982 | PIK3CD | c.*2300C>A (n.*2300C>A) c.2950C>A (p.Arg984=) c.3043C>A (p.Arg1015=) c.3046C>A (p.Arg1016=) c.2902C>A (p.Arg968=) c.3034C>A (p.Arg1012=) n.2207C>A c.3118C>A (p.Arg1040=) c.2959C>A (p.Arg987=) c.2398C>A (p.Arg800=) n.3131C>A c.3223C>A (p.Arg1075=) c.3136C>A (p.Arg1046=) | |
1 | g.9726957C= | CA1152936860 | PIK3CD | c.*2300C= (n.*2300C=) c.2950C= (p.Arg984=) c.3043C= (p.Arg1015=) c.3046C= (p.Arg1016=) c.2902C= (p.Arg968=) c.3034C= (p.Arg1012=) n.2207C= c.3118C= (p.Arg1040=) c.2959C= (p.Arg987=) c.2398C= (p.Arg800=) n.3131C= c.3223C= (p.Arg1075=) c.3136C= (p.Arg1046=) | |
1 | g.9726957C>G | CA338308808 | PIK3CD | c.*2300C>G (n.*2300C>G) c.2950C>G (p.Arg984Gly) c.3043C>G (p.Arg1015Gly) c.3046C>G (p.Arg1016Gly) c.2902C>G (p.Arg968Gly) c.3034C>G (p.Arg1012Gly) n.2207C>G c.3118C>G (p.Arg1040Gly) c.2959C>G (p.Arg987Gly) c.2398C>G (p.Arg800Gly) n.3131C>G c.3223C>G (p.Arg1075Gly) c.3136C>G (p.Arg1046Gly) | |
1 | g.9726957C>T | CA338308809 | PIK3CD | c.*2300C>T (n.*2300C>T) c.2950C>T (p.Arg984Ter) c.3043C>T (p.Arg1015Ter) c.3046C>T (p.Arg1016Ter) c.2902C>T (p.Arg968Ter) c.3034C>T (p.Arg1012Ter) n.2207C>T c.3118C>T (p.Arg1040Ter) c.2959C>T (p.Arg987Ter) c.2398C>T (p.Arg800Ter) n.3131C>T c.3223C>T (p.Arg1075Ter) c.3136C>T (p.Arg1046Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.9726958G>A | CA577725 | PIK3CD | c.*2301G>A (n.*2301G>A) c.2951G>A (p.Arg984Gln) c.3044G>A (p.Arg1015Gln) c.3047G>A (p.Arg1016Gln) c.2903G>A (p.Arg968Gln) c.3035G>A (p.Arg1012Gln) n.2208G>A c.3119G>A (p.Arg1040Gln) c.2960G>A (p.Arg987Gln) c.2399G>A (p.Arg800Gln) n.3132G>A c.3224G>A (p.Arg1075Gln) c.3137G>A (p.Arg1046Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9726958G>C | CA338308810 | PIK3CD | c.*2301G>C (n.*2301G>C) c.2951G>C (p.Arg984Pro) c.3044G>C (p.Arg1015Pro) c.3047G>C (p.Arg1016Pro) c.2903G>C (p.Arg968Pro) c.3035G>C (p.Arg1012Pro) n.2208G>C c.3119G>C (p.Arg1040Pro) c.2960G>C (p.Arg987Pro) c.2399G>C (p.Arg800Pro) n.3132G>C c.3224G>C (p.Arg1075Pro) c.3137G>C (p.Arg1046Pro) | |
1 | g.9726958G= | CA1152936866 | PIK3CD | c.*2301G= (n.*2301G=) c.2951G= (p.Arg984=) c.3044G= (p.Arg1015=) c.3047G= (p.Arg1016=) c.2903G= (p.Arg968=) c.3035G= (p.Arg1012=) n.2208G= c.3119G= (p.Arg1040=) c.2960G= (p.Arg987=) c.2399G= (p.Arg800=) n.3132G= c.3224G= (p.Arg1075=) c.3137G= (p.Arg1046=) | |
1 | g.9726958G>T | CA338308811 | PIK3CD | c.*2301G>T (n.*2301G>T) c.2951G>T (p.Arg984Leu) c.3044G>T (p.Arg1015Leu) c.3047G>T (p.Arg1016Leu) c.2903G>T (p.Arg968Leu) c.3035G>T (p.Arg1012Leu) n.2208G>T c.3119G>T (p.Arg1040Leu) c.2960G>T (p.Arg987Leu) c.2399G>T (p.Arg800Leu) n.3132G>T c.3224G>T (p.Arg1075Leu) c.3137G>T (p.Arg1046Leu) | |
1 | g.9726959A= | CA1152936870 | PIK3CD | c.*2302A= (n.*2302A=) c.2952A= (p.Arg984=) c.3045A= (p.Arg1015=) c.3048A= (p.Arg1016=) c.2904A= (p.Arg968=) c.3036A= (p.Arg1012=) n.2209A= c.3120A= (p.Arg1040=) c.2961A= (p.Arg987=) c.2400A= (p.Arg800=) n.3133A= c.3225A= (p.Arg1075=) c.3138A= (p.Arg1046=) | |
1 | g.9726959A>C | CA415875989 | PIK3CD | c.*2302A>C (n.*2302A>C) c.2952A>C (p.Arg984=) c.3045A>C (p.Arg1015=) c.3048A>C (p.Arg1016=) c.2904A>C (p.Arg968=) c.3036A>C (p.Arg1012=) n.2209A>C c.3120A>C (p.Arg1040=) c.2961A>C (p.Arg987=) c.2400A>C (p.Arg800=) n.3133A>C c.3225A>C (p.Arg1075=) c.3138A>C (p.Arg1046=) | |
1 | g.9726959A>G | CA577726 | PIK3CD | c.*2302A>G (n.*2302A>G) c.2952A>G (p.Arg984=) c.3045A>G (p.Arg1015=) c.3048A>G (p.Arg1016=) c.2904A>G (p.Arg968=) c.3036A>G (p.Arg1012=) n.2209A>G c.3120A>G (p.Arg1040=) c.2961A>G (p.Arg987=) c.2400A>G (p.Arg800=) n.3133A>G c.3225A>G (p.Arg1075=) c.3138A>G (p.Arg1046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9726959A>T | CA415875991 | PIK3CD | c.*2302A>T (n.*2302A>T) c.2952A>T (p.Arg984=) c.3045A>T (p.Arg1015=) c.3048A>T (p.Arg1016=) c.2904A>T (p.Arg968=) c.3036A>T (p.Arg1012=) n.2209A>T c.3120A>T (p.Arg1040=) c.2961A>T (p.Arg987=) c.2400A>T (p.Arg800=) n.3133A>T c.3225A>T (p.Arg1075=) c.3138A>T (p.Arg1046=) | |
1 | g.9726960G>A | CA338308812 | PIK3CD | c.*2303G>A (n.*2303G>A) c.2953G>A (p.Val985Met) c.3046G>A (p.Val1016Met) c.3049G>A (p.Val1017Met) c.2905G>A (p.Val969Met) c.3037G>A (p.Val1013Met) n.2210G>A c.3121G>A (p.Val1041Met) c.2962G>A (p.Val988Met) c.2401G>A (p.Val801Met) n.3134G>A c.3226G>A (p.Val1076Met) c.3139G>A (p.Val1047Met) | |
1 | g.9726960G>C | CA338308813 | PIK3CD | c.*2303G>C (n.*2303G>C) c.2953G>C (p.Val985Leu) c.3046G>C (p.Val1016Leu) c.3049G>C (p.Val1017Leu) c.2905G>C (p.Val969Leu) c.3037G>C (p.Val1013Leu) n.2210G>C c.3121G>C (p.Val1041Leu) c.2962G>C (p.Val988Leu) c.2401G>C (p.Val801Leu) n.3134G>C c.3226G>C (p.Val1076Leu) c.3139G>C (p.Val1047Leu) | |
1 | g.9726960G>T | CA338308814 | PIK3CD | c.*2303G>T (n.*2303G>T) c.2953G>T (p.Val985Leu) c.3046G>T (p.Val1016Leu) c.3049G>T (p.Val1017Leu) c.2905G>T (p.Val969Leu) c.3037G>T (p.Val1013Leu) n.2210G>T c.3121G>T (p.Val1041Leu) c.2962G>T (p.Val988Leu) c.2401G>T (p.Val801Leu) n.3134G>T c.3226G>T (p.Val1076Leu) c.3139G>T (p.Val1047Leu) | |
1 | g.9726961T>A | CA338308817 | PIK3CD | c.*2304T>A (n.*2304T>A) c.2954T>A (p.Val985Glu) c.3047T>A (p.Val1016Glu) c.3050T>A (p.Val1017Glu) c.2906T>A (p.Val969Glu) c.3038T>A (p.Val1013Glu) n.2211T>A c.3122T>A (p.Val1041Glu) c.2963T>A (p.Val988Glu) c.2402T>A (p.Val801Glu) n.3135T>A c.3227T>A (p.Val1076Glu) c.3140T>A (p.Val1047Glu) | |
1 | g.9726961T>C | CA338308815 | PIK3CD | c.*2304T>C (n.*2304T>C) c.2954T>C (p.Val985Ala) c.3047T>C (p.Val1016Ala) c.3050T>C (p.Val1017Ala) c.2906T>C (p.Val969Ala) c.3038T>C (p.Val1013Ala) n.2211T>C c.3122T>C (p.Val1041Ala) c.2963T>C (p.Val988Ala) c.2402T>C (p.Val801Ala) n.3135T>C c.3227T>C (p.Val1076Ala) c.3140T>C (p.Val1047Ala) | |
1 | g.9726961T>G | CA338308816 | PIK3CD | c.*2304T>G (n.*2304T>G) c.2954T>G (p.Val985Gly) c.3047T>G (p.Val1016Gly) c.3050T>G (p.Val1017Gly) c.2906T>G (p.Val969Gly) c.3038T>G (p.Val1013Gly) n.2211T>G c.3122T>G (p.Val1041Gly) c.2963T>G (p.Val988Gly) c.2402T>G (p.Val801Gly) n.3135T>G c.3227T>G (p.Val1076Gly) c.3140T>G (p.Val1047Gly) | gnomAD v4 |
1 | g.9726962G>A | CA415876006 | PIK3CD | c.*2305G>A (n.*2305G>A) c.2955G>A (p.Val985=) c.3048G>A (p.Val1016=) c.3051G>A (p.Val1017=) c.2907G>A (p.Val969=) c.3039G>A (p.Val1013=) n.2212G>A c.3123G>A (p.Val1041=) c.2964G>A (p.Val988=) c.2403G>A (p.Val801=) n.3136G>A c.3228G>A (p.Val1076=) c.3141G>A (p.Val1047=) | |
1 | g.9726962G>C | CA415876003 | PIK3CD | c.*2305G>C (n.*2305G>C) c.2955G>C (p.Val985=) c.3048G>C (p.Val1016=) c.3051G>C (p.Val1017=) c.2907G>C (p.Val969=) c.3039G>C (p.Val1013=) n.2212G>C c.3123G>C (p.Val1041=) c.2964G>C (p.Val988=) c.2403G>C (p.Val801=) n.3136G>C c.3228G>C (p.Val1076=) c.3141G>C (p.Val1047=) | |
1 | g.9726962G>T | CA415876001 | PIK3CD | c.*2305G>T (n.*2305G>T) c.2955G>T (p.Val985=) c.3048G>T (p.Val1016=) c.3051G>T (p.Val1017=) c.2907G>T (p.Val969=) c.3039G>T (p.Val1013=) n.2212G>T c.3123G>T (p.Val1041=) c.2964G>T (p.Val988=) c.2403G>T (p.Val801=) n.3136G>T c.3228G>T (p.Val1076=) c.3141G>T (p.Val1047=) | gnomAD v4 |
1 | g.9726963A>C | CA338308818 | PIK3CD | c.*2306A>C (n.*2306A>C) c.2956A>C (p.Lys986Gln) c.3049A>C (p.Lys1017Gln) c.3052A>C (p.Lys1018Gln) c.2908A>C (p.Lys970Gln) c.3040A>C (p.Lys1014Gln) n.2213A>C c.3124A>C (p.Lys1042Gln) c.2965A>C (p.Lys989Gln) c.2404A>C (p.Lys802Gln) n.3137A>C c.3229A>C (p.Lys1077Gln) c.3142A>C (p.Lys1048Gln) | |
1 | g.9726963A>G | CA338308819 | PIK3CD | c.*2306A>G (n.*2306A>G) c.2956A>G (p.Lys986Glu) c.3049A>G (p.Lys1017Glu) c.3052A>G (p.Lys1018Glu) c.2908A>G (p.Lys970Glu) c.3040A>G (p.Lys1014Glu) n.2213A>G c.3124A>G (p.Lys1042Glu) c.2965A>G (p.Lys989Glu) c.2404A>G (p.Lys802Glu) n.3137A>G c.3229A>G (p.Lys1077Glu) c.3142A>G (p.Lys1048Glu) | |
1 | g.9726963A>T | CA338308820 | PIK3CD | c.*2306A>T (n.*2306A>T) c.2956A>T (p.Lys986Ter) c.3049A>T (p.Lys1017Ter) c.3052A>T (p.Lys1018Ter) c.2908A>T (p.Lys970Ter) c.3040A>T (p.Lys1014Ter) n.2213A>T c.3124A>T (p.Lys1042Ter) c.2965A>T (p.Lys989Ter) c.2404A>T (p.Lys802Ter) n.3137A>T c.3229A>T (p.Lys1077Ter) c.3142A>T (p.Lys1048Ter) | |
1 | g.9726964A>C | CA338308821 | PIK3CD | c.*2307A>C (n.*2307A>C) c.2957A>C (p.Lys986Thr) c.3050A>C (p.Lys1017Thr) c.3053A>C (p.Lys1018Thr) c.2909A>C (p.Lys970Thr) c.3041A>C (p.Lys1014Thr) n.2214A>C c.3125A>C (p.Lys1042Thr) c.2966A>C (p.Lys989Thr) c.2405A>C (p.Lys802Thr) n.3138A>C c.3230A>C (p.Lys1077Thr) c.3143A>C (p.Lys1048Thr) | |
1 | g.9726964A>G | CA338308822 | PIK3CD | c.*2307A>G (n.*2307A>G) c.2957A>G (p.Lys986Arg) c.3050A>G (p.Lys1017Arg) c.3053A>G (p.Lys1018Arg) c.2909A>G (p.Lys970Arg) c.3041A>G (p.Lys1014Arg) n.2214A>G c.3125A>G (p.Lys1042Arg) c.2966A>G (p.Lys989Arg) c.2405A>G (p.Lys802Arg) n.3138A>G c.3230A>G (p.Lys1077Arg) c.3143A>G (p.Lys1048Arg) | |
1 | g.9726964A>T | CA338308823 | PIK3CD | c.*2307A>T (n.*2307A>T) c.2957A>T (p.Lys986Met) c.3050A>T (p.Lys1017Met) c.3053A>T (p.Lys1018Met) c.2909A>T (p.Lys970Met) c.3041A>T (p.Lys1014Met) n.2214A>T c.3125A>T (p.Lys1042Met) c.2966A>T (p.Lys989Met) c.2405A>T (p.Lys802Met) n.3138A>T c.3230A>T (p.Lys1077Met) c.3143A>T (p.Lys1048Met) | |
1 | g.9726965G>A | CA415876013 | PIK3CD | c.*2308G>A (n.*2308G>A) c.2958G>A (p.Lys986=) c.3051G>A (p.Lys1017=) c.3054G>A (p.Lys1018=) c.2910G>A (p.Lys970=) c.3042G>A (p.Lys1014=) n.2215G>A c.3126G>A (p.Lys1042=) c.2967G>A (p.Lys989=) c.2406G>A (p.Lys802=) n.3139G>A c.3231G>A (p.Lys1077=) c.3144G>A (p.Lys1048=) | |
1 | g.9726965G>C | CA338308824 | PIK3CD | c.*2308G>C (n.*2308G>C) c.2958G>C (p.Lys986Asn) c.3051G>C (p.Lys1017Asn) c.3054G>C (p.Lys1018Asn) c.2910G>C (p.Lys970Asn) c.3042G>C (p.Lys1014Asn) n.2215G>C c.3126G>C (p.Lys1042Asn) c.2967G>C (p.Lys989Asn) c.2406G>C (p.Lys802Asn) n.3139G>C c.3231G>C (p.Lys1077Asn) c.3144G>C (p.Lys1048Asn) | |
1 | g.9726965G>T | CA338308825 | PIK3CD | c.*2308G>T (n.*2308G>T) c.2958G>T (p.Lys986Asn) c.3051G>T (p.Lys1017Asn) c.3054G>T (p.Lys1018Asn) c.2910G>T (p.Lys970Asn) c.3042G>T (p.Lys1014Asn) n.2215G>T c.3126G>T (p.Lys1042Asn) c.2967G>T (p.Lys989Asn) c.2406G>T (p.Lys802Asn) n.3139G>T c.3231G>T (p.Lys1077Asn) c.3144G>T (p.Lys1048Asn) | |
1 | g.9726966T>A | CA338308826 | PIK3CD | c.*2309T>A (n.*2309T>A) c.2959T>A (p.Phe987Ile) c.3052T>A (p.Phe1018Ile) c.3055T>A (p.Phe1019Ile) c.2911T>A (p.Phe971Ile) c.3043T>A (p.Phe1015Ile) n.2216T>A c.3127T>A (p.Phe1043Ile) c.2968T>A (p.Phe990Ile) c.2407T>A (p.Phe803Ile) n.3140T>A c.3232T>A (p.Phe1078Ile) c.3145T>A (p.Phe1049Ile) | |
1 | g.9726966T>C | CA338308827 | PIK3CD | c.*2309T>C (n.*2309T>C) c.2959T>C (p.Phe987Leu) c.3052T>C (p.Phe1018Leu) c.3055T>C (p.Phe1019Leu) c.2911T>C (p.Phe971Leu) c.3043T>C (p.Phe1015Leu) n.2216T>C c.3127T>C (p.Phe1043Leu) c.2968T>C (p.Phe990Leu) c.2407T>C (p.Phe803Leu) n.3140T>C c.3232T>C (p.Phe1078Leu) c.3145T>C (p.Phe1049Leu) | |
1 | g.9726966T>G | CA338308828 | PIK3CD | c.*2309T>G (n.*2309T>G) c.2959T>G (p.Phe987Val) c.3052T>G (p.Phe1018Val) c.3055T>G (p.Phe1019Val) c.2911T>G (p.Phe971Val) c.3043T>G (p.Phe1015Val) n.2216T>G c.3127T>G (p.Phe1043Val) c.2968T>G (p.Phe990Val) c.2407T>G (p.Phe803Val) n.3140T>G c.3232T>G (p.Phe1078Val) c.3145T>G (p.Phe1049Val) | |
1 | g.9726967T>A | CA338308830 | PIK3CD | c.*2310T>A (n.*2310T>A) c.2960T>A (p.Phe987Tyr) c.3053T>A (p.Phe1018Tyr) c.3056T>A (p.Phe1019Tyr) c.2912T>A (p.Phe971Tyr) c.3044T>A (p.Phe1015Tyr) n.2217T>A c.3128T>A (p.Phe1043Tyr) c.2969T>A (p.Phe990Tyr) c.2408T>A (p.Phe803Tyr) n.3141T>A c.3233T>A (p.Phe1078Tyr) c.3146T>A (p.Phe1049Tyr) | |
1 | g.9726967T>C | CA338308831 | PIK3CD | c.*2310T>C (n.*2310T>C) c.2960T>C (p.Phe987Ser) c.3053T>C (p.Phe1018Ser) c.3056T>C (p.Phe1019Ser) c.2912T>C (p.Phe971Ser) c.3044T>C (p.Phe1015Ser) n.2217T>C c.3128T>C (p.Phe1043Ser) c.2969T>C (p.Phe990Ser) c.2408T>C (p.Phe803Ser) n.3141T>C c.3233T>C (p.Phe1078Ser) c.3146T>C (p.Phe1049Ser) | |
1 | g.9726967T>G | CA338308829 | PIK3CD | c.*2310T>G (n.*2310T>G) c.2960T>G (p.Phe987Cys) c.3053T>G (p.Phe1018Cys) c.3056T>G (p.Phe1019Cys) c.2912T>G (p.Phe971Cys) c.3044T>G (p.Phe1015Cys) n.2217T>G c.3128T>G (p.Phe1043Cys) c.2969T>G (p.Phe990Cys) c.2408T>G (p.Phe803Cys) n.3141T>G c.3233T>G (p.Phe1078Cys) c.3146T>G (p.Phe1049Cys) | |
1 | g.9726968T>A | CA338308833 | PIK3CD | c.*2311T>A (n.*2311T>A) c.2961T>A (p.Phe987Leu) c.3054T>A (p.Phe1018Leu) c.3057T>A (p.Phe1019Leu) c.2913T>A (p.Phe971Leu) c.3045T>A (p.Phe1015Leu) n.2218T>A c.3129T>A (p.Phe1043Leu) c.2970T>A (p.Phe990Leu) c.2409T>A (p.Phe803Leu) n.3142T>A c.3234T>A (p.Phe1078Leu) c.3147T>A (p.Phe1049Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.9726968T>C | CA415876025 | PIK3CD | c.*2311T>C (n.*2311T>C) c.2961T>C (p.Phe987=) c.3054T>C (p.Phe1018=) c.3057T>C (p.Phe1019=) c.2913T>C (p.Phe971=) c.3045T>C (p.Phe1015=) n.2218T>C c.3129T>C (p.Phe1043=) c.2970T>C (p.Phe990=) c.2409T>C (p.Phe803=) n.3142T>C c.3234T>C (p.Phe1078=) c.3147T>C (p.Phe1049=) | |
1 | g.9726968T>G | CA338308832 | PIK3CD | c.*2311T>G (n.*2311T>G) c.2961T>G (p.Phe987Leu) c.3054T>G (p.Phe1018Leu) c.3057T>G (p.Phe1019Leu) c.2913T>G (p.Phe971Leu) c.3045T>G (p.Phe1015Leu) n.2218T>G c.3129T>G (p.Phe1043Leu) c.2970T>G (p.Phe990Leu) c.2409T>G (p.Phe803Leu) n.3142T>G c.3234T>G (p.Phe1078Leu) c.3147T>G (p.Phe1049Leu) | |
1 | g.9726968T= | CA1152936876 | PIK3CD | c.*2311T= (n.*2311T=) c.2961T= (p.Phe987=) c.3054T= (p.Phe1018=) c.3057T= (p.Phe1019=) c.2913T= (p.Phe971=) c.3045T= (p.Phe1015=) n.2218T= c.3129T= (p.Phe1043=) c.2970T= (p.Phe990=) c.2409T= (p.Phe803=) n.3142T= c.3234T= (p.Phe1078=) c.3147T= (p.Phe1049=) | |
1 | g.9726969A>C | CA338308834 | PIK3CD | c.*2312A>C (n.*2312A>C) c.2962A>C (p.Asn988His) c.3055A>C (p.Asn1019His) c.3058A>C (p.Asn1020His) c.2914A>C (p.Asn972His) c.3046A>C (p.Asn1016His) n.2219A>C c.3130A>C (p.Asn1044His) c.2971A>C (p.Asn991His) c.2410A>C (p.Asn804His) n.3143A>C c.3235A>C (p.Asn1079His) c.3148A>C (p.Asn1050His) | |
1 | g.9726969A>G | CA338308835 | PIK3CD | c.*2312A>G (n.*2312A>G) c.2962A>G (p.Asn988Asp) c.3055A>G (p.Asn1019Asp) c.3058A>G (p.Asn1020Asp) c.2914A>G (p.Asn972Asp) c.3046A>G (p.Asn1016Asp) n.2219A>G c.3130A>G (p.Asn1044Asp) c.2971A>G (p.Asn991Asp) c.2410A>G (p.Asn804Asp) n.3143A>G c.3235A>G (p.Asn1079Asp) c.3148A>G (p.Asn1050Asp) | |
1 | g.9726969A>T | CA338308836 | PIK3CD | c.*2312A>T (n.*2312A>T) c.2962A>T (p.Asn988Tyr) c.3055A>T (p.Asn1019Tyr) c.3058A>T (p.Asn1020Tyr) c.2914A>T (p.Asn972Tyr) c.3046A>T (p.Asn1016Tyr) n.2219A>T c.3130A>T (p.Asn1044Tyr) c.2971A>T (p.Asn991Tyr) c.2410A>T (p.Asn804Tyr) n.3143A>T c.3235A>T (p.Asn1079Tyr) c.3148A>T (p.Asn1050Tyr) | |
1 | g.9726970A>C | CA338308837 | PIK3CD | c.*2313A>C (n.*2313A>C) c.2963A>C (p.Asn988Thr) c.3056A>C (p.Asn1019Thr) c.3059A>C (p.Asn1020Thr) c.2915A>C (p.Asn972Thr) c.3047A>C (p.Asn1016Thr) n.2220A>C c.3131A>C (p.Asn1044Thr) c.2972A>C (p.Asn991Thr) c.2411A>C (p.Asn804Thr) n.3144A>C c.3236A>C (p.Asn1079Thr) c.3149A>C (p.Asn1050Thr) | |
1 | g.9726970A>G | CA338308838 | PIK3CD | c.*2313A>G (n.*2313A>G) c.2963A>G (p.Asn988Ser) c.3056A>G (p.Asn1019Ser) c.3059A>G (p.Asn1020Ser) c.2915A>G (p.Asn972Ser) c.3047A>G (p.Asn1016Ser) n.2220A>G c.3131A>G (p.Asn1044Ser) c.2972A>G (p.Asn991Ser) c.2411A>G (p.Asn804Ser) n.3144A>G c.3236A>G (p.Asn1079Ser) c.3149A>G (p.Asn1050Ser) | |
1 | g.9726970A>T | CA338308839 | PIK3CD | c.*2313A>T (n.*2313A>T) c.2963A>T (p.Asn988Ile) c.3056A>T (p.Asn1019Ile) c.3059A>T (p.Asn1020Ile) c.2915A>T (p.Asn972Ile) c.3047A>T (p.Asn1016Ile) n.2220A>T c.3131A>T (p.Asn1044Ile) c.2972A>T (p.Asn991Ile) c.2411A>T (p.Asn804Ile) n.3144A>T c.3236A>T (p.Asn1079Ile) c.3149A>T (p.Asn1050Ile) | |
1 | g.9726971C>A | CA338308840 | PIK3CD | c.*2314C>A (n.*2314C>A) c.2964C>A (p.Asn988Lys) c.3057C>A (p.Asn1019Lys) c.3060C>A (p.Asn1020Lys) c.2916C>A (p.Asn972Lys) c.3048C>A (p.Asn1016Lys) n.2221C>A c.3132C>A (p.Asn1044Lys) c.2973C>A (p.Asn991Lys) c.2412C>A (p.Asn804Lys) n.3145C>A c.3237C>A (p.Asn1079Lys) c.3150C>A (p.Asn1050Lys) | |
1 | g.9726971C= | CA1152936884 | PIK3CD | c.*2314C= (n.*2314C=) c.2964C= (p.Asn988=) c.3057C= (p.Asn1019=) c.3060C= (p.Asn1020=) c.2916C= (p.Asn972=) c.3048C= (p.Asn1016=) n.2221C= c.3132C= (p.Asn1044=) c.2973C= (p.Asn991=) c.2412C= (p.Asn804=) n.3145C= c.3237C= (p.Asn1079=) c.3150C= (p.Asn1050=) | |
1 | g.9726971C>G | CA338308841 | PIK3CD | c.*2314C>G (n.*2314C>G) c.2964C>G (p.Asn988Lys) c.3057C>G (p.Asn1019Lys) c.3060C>G (p.Asn1020Lys) c.2916C>G (p.Asn972Lys) c.3048C>G (p.Asn1016Lys) n.2221C>G c.3132C>G (p.Asn1044Lys) c.2973C>G (p.Asn991Lys) c.2412C>G (p.Asn804Lys) n.3145C>G c.3237C>G (p.Asn1079Lys) c.3150C>G (p.Asn1050Lys) | gnomAD v4 |
1 | g.9726971C>T | CA17787123 | PIK3CD | c.*2314C>T (n.*2314C>T) c.2964C>T (p.Asn988=) c.3057C>T (p.Asn1019=) c.3060C>T (p.Asn1020=) c.2916C>T (p.Asn972=) c.3048C>T (p.Asn1016=) n.2221C>T c.3132C>T (p.Asn1044=) c.2973C>T (p.Asn991=) c.2412C>T (p.Asn804=) n.3145C>T c.3237C>T (p.Asn1079=) c.3150C>T (p.Asn1050=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.9726972G>A | CA145460 | PIK3CD | c.*2315G>A (n.*2315G>A) c.2965G>A (p.Glu989Lys) c.3058G>A (p.Glu1020Lys) c.3061G>A (p.Glu1021Lys) c.2917G>A (p.Glu973Lys) c.3049G>A (p.Glu1017Lys) n.2222G>A c.3133G>A (p.Glu1045Lys) c.2974G>A (p.Glu992Lys) c.2413G>A (p.Glu805Lys) n.3146G>A c.3238G>A (p.Glu1080Lys) c.3151G>A (p.Glu1051Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.9726972G>C | CA338308842 | PIK3CD | c.*2315G>C (n.*2315G>C) c.2965G>C (p.Glu989Gln) c.3058G>C (p.Glu1020Gln) c.3061G>C (p.Glu1021Gln) c.2917G>C (p.Glu973Gln) c.3049G>C (p.Glu1017Gln) n.2222G>C c.3133G>C (p.Glu1045Gln) c.2974G>C (p.Glu992Gln) c.2413G>C (p.Glu805Gln) n.3146G>C c.3238G>C (p.Glu1080Gln) c.3151G>C (p.Glu1051Gln) | |
1 | g.9726972G= | CA1144228661 | PIK3CD | c.*2315G= (n.*2315G=) c.2965G= (p.Glu989=) c.3058G= (p.Glu1020=) c.3061G= (p.Glu1021=) c.2917G= (p.Glu973=) c.3049G= (p.Glu1017=) n.2222G= c.3133G= (p.Glu1045=) c.2974G= (p.Glu992=) c.2413G= (p.Glu805=) n.3146G= c.3238G= (p.Glu1080=) c.3151G= (p.Glu1051=) | |
1 | g.9726972G>T | CA338308843 | PIK3CD | c.*2315G>T (n.*2315G>T) c.2965G>T (p.Glu989Ter) c.3058G>T (p.Glu1020Ter) c.3061G>T (p.Glu1021Ter) c.2917G>T (p.Glu973Ter) c.3049G>T (p.Glu1017Ter) n.2222G>T c.3133G>T (p.Glu1045Ter) c.2974G>T (p.Glu992Ter) c.2413G>T (p.Glu805Ter) n.3146G>T c.3238G>T (p.Glu1080Ter) c.3151G>T (p.Glu1051Ter) | |
1 | g.9726973A= | CA1152936901 | PIK3CD | c.*2316A= (n.*2316A=) c.2966A= (p.Glu989=) c.3059A= (p.Glu1020=) c.3062A= (p.Glu1021=) c.2918A= (p.Glu973=) c.3050A= (p.Glu1017=) n.2223A= c.3134A= (p.Glu1045=) c.2975A= (p.Glu992=) c.2414A= (p.Glu805=) n.3147A= c.3239A= (p.Glu1080=) c.3152A= (p.Glu1051=) | |
1 | g.9726973A>C | CA338308844 | PIK3CD | c.*2316A>C (n.*2316A>C) c.2966A>C (p.Glu989Ala) c.3059A>C (p.Glu1020Ala) c.3062A>C (p.Glu1021Ala) c.2918A>C (p.Glu973Ala) c.3050A>C (p.Glu1017Ala) n.2223A>C c.3134A>C (p.Glu1045Ala) c.2975A>C (p.Glu992Ala) c.2414A>C (p.Glu805Ala) n.3147A>C c.3239A>C (p.Glu1080Ala) c.3152A>C (p.Glu1051Ala) | dbSNP |
1 | g.9726973A>G | CA338308846 | PIK3CD | c.*2316A>G (n.*2316A>G) c.2966A>G (p.Glu989Gly) c.3059A>G (p.Glu1020Gly) c.3062A>G (p.Glu1021Gly) c.2918A>G (p.Glu973Gly) c.3050A>G (p.Glu1017Gly) n.2223A>G c.3134A>G (p.Glu1045Gly) c.2975A>G (p.Glu992Gly) c.2414A>G (p.Glu805Gly) n.3147A>G c.3239A>G (p.Glu1080Gly) c.3152A>G (p.Glu1051Gly) | |
1 | g.9726973A>T | CA338308845 | PIK3CD | c.*2316A>T (n.*2316A>T) c.2966A>T (p.Glu989Val) c.3059A>T (p.Glu1020Val) c.3062A>T (p.Glu1021Val) c.2918A>T (p.Glu973Val) c.3050A>T (p.Glu1017Val) n.2223A>T c.3134A>T (p.Glu1045Val) c.2975A>T (p.Glu992Val) c.2414A>T (p.Glu805Val) n.3147A>T c.3239A>T (p.Glu1080Val) c.3152A>T (p.Glu1051Val) | |
1 | g.9726974A>C | CA338308847 | PIK3CD | c.*2317A>C (n.*2317A>C) c.2967A>C (p.Glu989Asp) c.3060A>C (p.Glu1020Asp) c.3063A>C (p.Glu1021Asp) c.2919A>C (p.Glu973Asp) c.3051A>C (p.Glu1017Asp) n.2224A>C c.3135A>C (p.Glu1045Asp) c.2976A>C (p.Glu992Asp) c.2415A>C (p.Glu805Asp) n.3148A>C c.3240A>C (p.Glu1080Asp) c.3153A>C (p.Glu1051Asp) | |
1 | g.9726974A>G | CA415876044 | PIK3CD | c.*2317A>G (n.*2317A>G) c.2967A>G (p.Glu989=) c.3060A>G (p.Glu1020=) c.3063A>G (p.Glu1021=) c.2919A>G (p.Glu973=) c.3051A>G (p.Glu1017=) n.2224A>G c.3135A>G (p.Glu1045=) c.2976A>G (p.Glu992=) c.2415A>G (p.Glu805=) n.3148A>G c.3240A>G (p.Glu1080=) c.3153A>G (p.Glu1051=) | |
1 | g.9726974A>T | CA338308848 | PIK3CD | c.*2317A>T (n.*2317A>T) c.2967A>T (p.Glu989Asp) c.3060A>T (p.Glu1020Asp) c.3063A>T (p.Glu1021Asp) c.2919A>T (p.Glu973Asp) c.3051A>T (p.Glu1017Asp) n.2224A>T c.3135A>T (p.Glu1045Asp) c.2976A>T (p.Glu992Asp) c.2415A>T (p.Glu805Asp) n.3148A>T c.3240A>T (p.Glu1080Asp) c.3153A>T (p.Glu1051Asp) | |
1 | g.9726975G>A | CA338308849 | PIK3CD | c.*2318G>A (n.*2318G>A) c.2968G>A (p.Ala990Thr) c.3061G>A (p.Ala1021Thr) c.3064G>A (p.Ala1022Thr) c.2920G>A (p.Ala974Thr) c.3052G>A (p.Ala1018Thr) n.2225G>A c.3136G>A (p.Ala1046Thr) c.2977G>A (p.Ala993Thr) c.2416G>A (p.Ala806Thr) n.3149G>A c.3241G>A (p.Ala1081Thr) c.3154G>A (p.Ala1052Thr) | |
1 | g.9726975G>C | CA338308850 | PIK3CD | c.*2318G>C (n.*2318G>C) c.2968G>C (p.Ala990Pro) c.3061G>C (p.Ala1021Pro) c.3064G>C (p.Ala1022Pro) c.2920G>C (p.Ala974Pro) c.3052G>C (p.Ala1018Pro) n.2225G>C c.3136G>C (p.Ala1046Pro) c.2977G>C (p.Ala993Pro) c.2416G>C (p.Ala806Pro) n.3149G>C c.3241G>C (p.Ala1081Pro) c.3154G>C (p.Ala1052Pro) | |
1 | g.9726975G>T | CA338308851 | PIK3CD | c.*2318G>T (n.*2318G>T) c.2968G>T (p.Ala990Ser) c.3061G>T (p.Ala1021Ser) c.3064G>T (p.Ala1022Ser) c.2920G>T (p.Ala974Ser) c.3052G>T (p.Ala1018Ser) n.2225G>T c.3136G>T (p.Ala1046Ser) c.2977G>T (p.Ala993Ser) c.2416G>T (p.Ala806Ser) n.3149G>T c.3241G>T (p.Ala1081Ser) c.3154G>T (p.Ala1052Ser) | |
1 | g.9726976C>A | CA338308852 | PIK3CD | c.*2319C>A (n.*2319C>A) c.2969C>A (p.Ala990Asp) c.3062C>A (p.Ala1021Asp) c.3065C>A (p.Ala1022Asp) c.2921C>A (p.Ala974Asp) c.3053C>A (p.Ala1018Asp) n.2226C>A c.3137C>A (p.Ala1046Asp) c.2978C>A (p.Ala993Asp) c.2417C>A (p.Ala806Asp) n.3150C>A c.3242C>A (p.Ala1081Asp) c.3155C>A (p.Ala1052Asp) | |
1 | g.9726976C>G | CA338308853 | PIK3CD | c.*2319C>G (n.*2319C>G) c.2969C>G (p.Ala990Gly) c.3062C>G (p.Ala1021Gly) c.3065C>G (p.Ala1022Gly) c.2921C>G (p.Ala974Gly) c.3053C>G (p.Ala1018Gly) n.2226C>G c.3137C>G (p.Ala1046Gly) c.2978C>G (p.Ala993Gly) c.2417C>G (p.Ala806Gly) n.3150C>G c.3242C>G (p.Ala1081Gly) c.3155C>G (p.Ala1052Gly) | |
1 | g.9726976C>T | CA338308854 | PIK3CD | c.*2319C>T (n.*2319C>T) c.2969C>T (p.Ala990Val) c.3062C>T (p.Ala1021Val) c.3065C>T (p.Ala1022Val) c.2921C>T (p.Ala974Val) c.3053C>T (p.Ala1018Val) n.2226C>T c.3137C>T (p.Ala1046Val) c.2978C>T (p.Ala993Val) c.2417C>T (p.Ala806Val) n.3150C>T c.3242C>T (p.Ala1081Val) c.3155C>T (p.Ala1052Val) | |
1 | g.9726977C>A | CA415876070 | PIK3CD | c.*2320C>A (n.*2320C>A) c.2970C>A (p.Ala990=) c.3063C>A (p.Ala1021=) c.3066C>A (p.Ala1022=) c.2922C>A (p.Ala974=) c.3054C>A (p.Ala1018=) n.2227C>A c.3138C>A (p.Ala1046=) c.2979C>A (p.Ala993=) c.2418C>A (p.Ala806=) n.3151C>A c.3243C>A (p.Ala1081=) c.3156C>A (p.Ala1052=) | |
1 | g.9726977C= | CA1152936906 | PIK3CD | c.*2320C= (n.*2320C=) c.2970C= (p.Ala990=) c.3063C= (p.Ala1021=) c.3066C= (p.Ala1022=) c.2922C= (p.Ala974=) c.3054C= (p.Ala1018=) n.2227C= c.3138C= (p.Ala1046=) c.2979C= (p.Ala993=) c.2418C= (p.Ala806=) n.3151C= c.3243C= (p.Ala1081=) c.3156C= (p.Ala1052=) | |
1 | g.9726977C>G | CA415876071 | PIK3CD | c.*2320C>G (n.*2320C>G) c.2970C>G (p.Ala990=) c.3063C>G (p.Ala1021=) c.3066C>G (p.Ala1022=) c.2922C>G (p.Ala974=) c.3054C>G (p.Ala1018=) n.2227C>G c.3138C>G (p.Ala1046=) c.2979C>G (p.Ala993=) c.2418C>G (p.Ala806=) n.3151C>G c.3243C>G (p.Ala1081=) c.3156C>G (p.Ala1052=) | gnomAD v4 |
1 | g.9726977C>T | CA415876072 | PIK3CD | c.*2320C>T (n.*2320C>T) c.2970C>T (p.Ala990=) c.3063C>T (p.Ala1021=) c.3066C>T (p.Ala1022=) c.2922C>T (p.Ala974=) c.3054C>T (p.Ala1018=) n.2227C>T c.3138C>T (p.Ala1046=) c.2979C>T (p.Ala993=) c.2418C>T (p.Ala806=) n.3151C>T c.3243C>T (p.Ala1081=) c.3156C>T (p.Ala1052=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.9726978C>A | CA338308855 | PIK3CD | c.*2321C>A (n.*2321C>A) c.2971C>A (p.Leu991Ile) c.3064C>A (p.Leu1022Ile) c.3067C>A (p.Leu1023Ile) c.2923C>A (p.Leu975Ile) c.3055C>A (p.Leu1019Ile) n.2228C>A c.3139C>A (p.Leu1047Ile) c.2980C>A (p.Leu994Ile) c.2419C>A (p.Leu807Ile) n.3152C>A c.3244C>A (p.Leu1082Ile) c.3157C>A (p.Leu1053Ile) | |
1 | g.9726978C>G | CA338308856 | PIK3CD | c.*2321C>G (n.*2321C>G) c.2971C>G (p.Leu991Val) c.3064C>G (p.Leu1022Val) c.3067C>G (p.Leu1023Val) c.2923C>G (p.Leu975Val) c.3055C>G (p.Leu1019Val) n.2228C>G c.3139C>G (p.Leu1047Val) c.2980C>G (p.Leu994Val) c.2419C>G (p.Leu807Val) n.3152C>G c.3244C>G (p.Leu1082Val) c.3157C>G (p.Leu1053Val) | |
1 | g.9726978C>T | CA338308857 | PIK3CD | c.*2321C>T (n.*2321C>T) c.2971C>T (p.Leu991Phe) c.3064C>T (p.Leu1022Phe) c.3067C>T (p.Leu1023Phe) c.2923C>T (p.Leu975Phe) c.3055C>T (p.Leu1019Phe) n.2228C>T c.3139C>T (p.Leu1047Phe) c.2980C>T (p.Leu994Phe) c.2419C>T (p.Leu807Phe) n.3152C>T c.3244C>T (p.Leu1082Phe) c.3157C>T (p.Leu1053Phe) | |
1 | g.9726979T>A | CA338308859 | PIK3CD | c.*2322T>A (n.*2322T>A) c.2972T>A (p.Leu991His) c.3065T>A (p.Leu1022His) c.3068T>A (p.Leu1023His) c.2924T>A (p.Leu975His) c.3056T>A (p.Leu1019His) n.2229T>A c.3140T>A (p.Leu1047His) c.2981T>A (p.Leu994His) c.2420T>A (p.Leu807His) n.3153T>A c.3245T>A (p.Leu1082His) c.3158T>A (p.Leu1053His) | |
1 | g.9726979T>C | CA338308860 | PIK3CD | c.*2322T>C (n.*2322T>C) c.2972T>C (p.Leu991Pro) c.3065T>C (p.Leu1022Pro) c.3068T>C (p.Leu1023Pro) c.2924T>C (p.Leu975Pro) c.3056T>C (p.Leu1019Pro) n.2229T>C c.3140T>C (p.Leu1047Pro) c.2981T>C (p.Leu994Pro) c.2420T>C (p.Leu807Pro) n.3153T>C c.3245T>C (p.Leu1082Pro) c.3158T>C (p.Leu1053Pro) | |
1 | g.9726979T>G | CA338308858 | PIK3CD | c.*2322T>G (n.*2322T>G) c.2972T>G (p.Leu991Arg) c.3065T>G (p.Leu1022Arg) c.3068T>G (p.Leu1023Arg) c.2924T>G (p.Leu975Arg) c.3056T>G (p.Leu1019Arg) n.2229T>G c.3140T>G (p.Leu1047Arg) c.2981T>G (p.Leu994Arg) c.2420T>G (p.Leu807Arg) n.3153T>G c.3245T>G (p.Leu1082Arg) c.3158T>G (p.Leu1053Arg) | gnomAD v4 |
1 | g.9726980C>A | CA415876073 | PIK3CD | c.*2323C>A (n.*2323C>A) c.2973C>A (p.Leu991=) c.3066C>A (p.Leu1022=) c.3069C>A (p.Leu1023=) c.2925C>A (p.Leu975=) c.3057C>A (p.Leu1019=) n.2230C>A c.3141C>A (p.Leu1047=) c.2982C>A (p.Leu994=) c.2421C>A (p.Leu807=) n.3154C>A c.3246C>A (p.Leu1082=) c.3159C>A (p.Leu1053=) | |
1 | g.9726980C= | CA1152936910 | PIK3CD | c.*2323C= (n.*2323C=) c.2973C= (p.Leu991=) c.3066C= (p.Leu1022=) c.3069C= (p.Leu1023=) c.2925C= (p.Leu975=) c.3057C= (p.Leu1019=) n.2230C= c.3141C= (p.Leu1047=) c.2982C= (p.Leu994=) c.2421C= (p.Leu807=) n.3154C= c.3246C= (p.Leu1082=) c.3159C= (p.Leu1053=) | |
1 | g.9726980C>G | CA415876075 | PIK3CD | c.*2323C>G (n.*2323C>G) c.2973C>G (p.Leu991=) c.3066C>G (p.Leu1022=) c.3069C>G (p.Leu1023=) c.2925C>G (p.Leu975=) c.3057C>G (p.Leu1019=) n.2230C>G c.3141C>G (p.Leu1047=) c.2982C>G (p.Leu994=) c.2421C>G (p.Leu807=) n.3154C>G c.3246C>G (p.Leu1082=) c.3159C>G (p.Leu1053=) | |
1 | g.9726980C>T | CA415876074 | PIK3CD | c.*2323C>T (n.*2323C>T) c.2973C>T (p.Leu991=) c.3066C>T (p.Leu1022=) c.3069C>T (p.Leu1023=) c.2925C>T (p.Leu975=) c.3057C>T (p.Leu1019=) n.2230C>T c.3141C>T (p.Leu1047=) c.2982C>T (p.Leu994=) c.2421C>T (p.Leu807=) n.3154C>T c.3246C>T (p.Leu1082=) c.3159C>T (p.Leu1053=) | dbSNP gnomAD v4 |
1 | g.9726981C>A | CA338308861 | PIK3CD | c.*2324C>A (n.*2324C>A) c.2974C>A (p.Arg992Ser) c.3067C>A (p.Arg1023Ser) c.3070C>A (p.Arg1024Ser) c.2926C>A (p.Arg976Ser) c.3058C>A (p.Arg1020Ser) n.2231C>A c.3142C>A (p.Arg1048Ser) c.2983C>A (p.Arg995Ser) c.2422C>A (p.Arg808Ser) n.3155C>A c.3247C>A (p.Arg1083Ser) c.3160C>A (p.Arg1054Ser) | |
1 | g.9726981C= | CA1152936913 | PIK3CD | c.*2324C= (n.*2324C=) c.2974C= (p.Arg992=) c.3067C= (p.Arg1023=) c.3070C= (p.Arg1024=) c.2926C= (p.Arg976=) c.3058C= (p.Arg1020=) n.2231C= c.3142C= (p.Arg1048=) c.2983C= (p.Arg995=) c.2422C= (p.Arg808=) n.3155C= c.3247C= (p.Arg1083=) c.3160C= (p.Arg1054=) | |
1 | g.9726981C>G | CA338308862 | PIK3CD | c.*2324C>G (n.*2324C>G) c.2974C>G (p.Arg992Gly) c.3067C>G (p.Arg1023Gly) c.3070C>G (p.Arg1024Gly) c.2926C>G (p.Arg976Gly) c.3058C>G (p.Arg1020Gly) n.2231C>G c.3142C>G (p.Arg1048Gly) c.2983C>G (p.Arg995Gly) c.2422C>G (p.Arg808Gly) n.3155C>G c.3247C>G (p.Arg1083Gly) c.3160C>G (p.Arg1054Gly) | |
1 | g.9726981C>T | CA338308863 | PIK3CD | c.*2324C>T (n.*2324C>T) c.2974C>T (p.Arg992Cys) c.3067C>T (p.Arg1023Cys) c.3070C>T (p.Arg1024Cys) c.2926C>T (p.Arg976Cys) c.3058C>T (p.Arg1020Cys) n.2231C>T c.3142C>T (p.Arg1048Cys) c.2983C>T (p.Arg995Cys) c.2422C>T (p.Arg808Cys) n.3155C>T c.3247C>T (p.Arg1083Cys) c.3160C>T (p.Arg1054Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.9726982G>A | CA17787141 | PIK3CD | c.*2325G>A (n.*2325G>A) c.2975G>A (p.Arg992His) c.3068G>A (p.Arg1023His) c.3071G>A (p.Arg1024His) c.2927G>A (p.Arg976His) c.3059G>A (p.Arg1020His) n.2232G>A c.3143G>A (p.Arg1048His) c.2984G>A (p.Arg995His) c.2423G>A (p.Arg808His) n.3156G>A c.3248G>A (p.Arg1083His) c.3161G>A (p.Arg1054His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9726982G>C | CA338308864 | PIK3CD | c.*2325G>C (n.*2325G>C) c.2975G>C (p.Arg992Pro) c.3068G>C (p.Arg1023Pro) c.3071G>C (p.Arg1024Pro) c.2927G>C (p.Arg976Pro) c.3059G>C (p.Arg1020Pro) n.2232G>C c.3143G>C (p.Arg1048Pro) c.2984G>C (p.Arg995Pro) c.2423G>C (p.Arg808Pro) n.3156G>C c.3248G>C (p.Arg1083Pro) c.3161G>C (p.Arg1054Pro) | gnomAD v4 |
1 | g.9726982G= | CA1152936925 | PIK3CD | c.*2325G= (n.*2325G=) c.2975G= (p.Arg992=) c.3068G= (p.Arg1023=) c.3071G= (p.Arg1024=) c.2927G= (p.Arg976=) c.3059G= (p.Arg1020=) n.2232G= c.3143G= (p.Arg1048=) c.2984G= (p.Arg995=) c.2423G= (p.Arg808=) n.3156G= c.3248G= (p.Arg1083=) c.3161G= (p.Arg1054=) | |
1 | g.9726982G>T | CA338308865 | PIK3CD | c.*2325G>T (n.*2325G>T) c.2975G>T (p.Arg992Leu) c.3068G>T (p.Arg1023Leu) c.3071G>T (p.Arg1024Leu) c.2927G>T (p.Arg976Leu) c.3059G>T (p.Arg1020Leu) n.2232G>T c.3143G>T (p.Arg1048Leu) c.2984G>T (p.Arg995Leu) c.2423G>T (p.Arg808Leu) n.3156G>T c.3248G>T (p.Arg1083Leu) c.3161G>T (p.Arg1054Leu) | |
1 | g.9726983T>A | CA577727 | PIK3CD | c.*2326T>A (n.*2326T>A) c.2976T>A (p.Arg992=) c.3069T>A (p.Arg1023=) c.3072T>A (p.Arg1024=) c.2928T>A (p.Arg976=) c.3060T>A (p.Arg1020=) n.2233T>A c.3144T>A (p.Arg1048=) c.2985T>A (p.Arg995=) c.2424T>A (p.Arg808=) n.3157T>A c.3249T>A (p.Arg1083=) c.3162T>A (p.Arg1054=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.9726983T>C | CA415876076 | PIK3CD | c.*2326T>C (n.*2326T>C) c.2976T>C (p.Arg992=) c.3069T>C (p.Arg1023=) c.3072T>C (p.Arg1024=) c.2928T>C (p.Arg976=) c.3060T>C (p.Arg1020=) n.2233T>C c.3144T>C (p.Arg1048=) c.2985T>C (p.Arg995=) c.2424T>C (p.Arg808=) n.3157T>C c.3249T>C (p.Arg1083=) c.3162T>C (p.Arg1054=) | gnomAD v4 |
1 | g.9726983T>G | CA415876077 | PIK3CD | c.*2326T>G (n.*2326T>G) c.2976T>G (p.Arg992=) c.3069T>G (p.Arg1023=) c.3072T>G (p.Arg1024=) c.2928T>G (p.Arg976=) c.3060T>G (p.Arg1020=) n.2233T>G c.3144T>G (p.Arg1048=) c.2985T>G (p.Arg995=) c.2424T>G (p.Arg808=) n.3157T>G c.3249T>G (p.Arg1083=) c.3162T>G (p.Arg1054=) | gnomAD v4 |
1 | g.9726983T= | CA1152936927 | PIK3CD | c.*2326T= (n.*2326T=) c.2976T= (p.Arg992=) c.3069T= (p.Arg1023=) c.3072T= (p.Arg1024=) c.2928T= (p.Arg976=) c.3060T= (p.Arg1020=) n.2233T= c.3144T= (p.Arg1048=) c.2985T= (p.Arg995=) c.2424T= (p.Arg808=) n.3157T= c.3249T= (p.Arg1083=) c.3162T= (p.Arg1054=) | |
1 | g.9726984G>A | CA338308866 | PIK3CD | c.*2327G>A (n.*2327G>A) c.2977G>A (p.Glu993Lys) c.3070G>A (p.Glu1024Lys) c.3073G>A (p.Glu1025Lys) c.2929G>A (p.Glu977Lys) c.3061G>A (p.Glu1021Lys) n.2234G>A c.3145G>A (p.Glu1049Lys) c.2986G>A (p.Glu996Lys) c.2425G>A (p.Glu809Lys) n.3158G>A c.3250G>A (p.Glu1084Lys) c.3163G>A (p.Glu1055Lys) | |
1 | g.9726984G>C | CA338308867 | PIK3CD | c.*2327G>C (n.*2327G>C) c.2977G>C (p.Glu993Gln) c.3070G>C (p.Glu1024Gln) c.3073G>C (p.Glu1025Gln) c.2929G>C (p.Glu977Gln) c.3061G>C (p.Glu1021Gln) n.2234G>C c.3145G>C (p.Glu1049Gln) c.2986G>C (p.Glu996Gln) c.2425G>C (p.Glu809Gln) n.3158G>C c.3250G>C (p.Glu1084Gln) c.3163G>C (p.Glu1055Gln) | |
1 | g.9726984G>T | CA338308868 | PIK3CD | c.*2327G>T (n.*2327G>T) c.2977G>T (p.Glu993Ter) c.3070G>T (p.Glu1024Ter) c.3073G>T (p.Glu1025Ter) c.2929G>T (p.Glu977Ter) c.3061G>T (p.Glu1021Ter) n.2234G>T c.3145G>T (p.Glu1049Ter) c.2986G>T (p.Glu996Ter) c.2425G>T (p.Glu809Ter) n.3158G>T c.3250G>T (p.Glu1084Ter) c.3163G>T (p.Glu1055Ter) | |
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=) | |
1 | g.9727001A>C | CA338308910 | PIK3CD | c.*2344A>C (n.*2344A>C) c.2994A>C (p.Lys998Asn) c.3087A>C (p.Lys1029Asn) c.3090A>C (p.Lys1030Asn) c.2946A>C (p.Lys982Asn) c.3078A>C (p.Lys1026Asn) n.2251A>C c.3162A>C (p.Lys1054Asn) c.3003A>C (p.Lys1001Asn) c.2442A>C (p.Lys814Asn) n.3175A>C c.3267A>C (p.Lys1089Asn) c.3180A>C (p.Lys1060Asn) | |
1 | g.9727001A>G | CA577728 | PIK3CD | c.*2344A>G (n.*2344A>G) c.2994A>G (p.Lys998=) c.3087A>G (p.Lys1029=) c.3090A>G (p.Lys1030=) c.2946A>G (p.Lys982=) c.3078A>G (p.Lys1026=) n.2251A>G c.3162A>G (p.Lys1054=) c.3003A>G (p.Lys1001=) c.2442A>G (p.Lys814=) n.3175A>G c.3267A>G (p.Lys1089=) c.3180A>G (p.Lys1060=) | dbSNP ExAC gnomAD v2 |
1 | g.9727001A>T | CA338308911 | PIK3CD | c.*2344A>T (n.*2344A>T) c.2994A>T (p.Lys998Asn) c.3087A>T (p.Lys1029Asn) c.3090A>T (p.Lys1030Asn) c.2946A>T (p.Lys982Asn) c.3078A>T (p.Lys1026Asn) n.2251A>T c.3162A>T (p.Lys1054Asn) c.3003A>T (p.Lys1001Asn) c.2442A>T (p.Lys814Asn) n.3175A>T c.3267A>T (p.Lys1089Asn) c.3180A>T (p.Lys1060Asn) | |
1 | g.9727002G>A | CA338308912 | PIK3CD | c.*2345G>A (n.*2345G>A) c.2995G>A (p.Val999Met) c.3088G>A (p.Val1030Met) c.3091G>A (p.Val1031Met) c.2947G>A (p.Val983Met) c.3079G>A (p.Val1027Met) n.2252G>A c.3163G>A (p.Val1055Met) c.3004G>A (p.Val1002Met) c.2443G>A (p.Val815Met) n.3176G>A c.3268G>A (p.Val1090Met) c.3181G>A (p.Val1061Met) | |
1 | g.9727002G>C | CA338308913 | PIK3CD | c.*2345G>C (n.*2345G>C) c.2995G>C (p.Val999Leu) c.3088G>C (p.Val1030Leu) c.3091G>C (p.Val1031Leu) c.2947G>C (p.Val983Leu) c.3079G>C (p.Val1027Leu) n.2252G>C c.3163G>C (p.Val1055Leu) c.3004G>C (p.Val1002Leu) c.2443G>C (p.Val815Leu) n.3176G>C c.3268G>C (p.Val1090Leu) c.3181G>C (p.Val1061Leu) | |
1 | g.9727002G>T | CA338308914 | PIK3CD | c.*2345G>T (n.*2345G>T) c.2995G>T (p.Val999Leu) c.3088G>T (p.Val1030Leu) c.3091G>T (p.Val1031Leu) c.2947G>T (p.Val983Leu) c.3079G>T (p.Val1027Leu) n.2252G>T c.3163G>T (p.Val1055Leu) c.3004G>T (p.Val1002Leu) c.2443G>T (p.Val815Leu) n.3176G>T c.3268G>T (p.Val1090Leu) c.3181G>T (p.Val1061Leu) | |
1 | g.9727003T>A | CA338308915 | PIK3CD | c.*2346T>A (n.*2346T>A) c.2996T>A (p.Val999Glu) c.3089T>A (p.Val1030Glu) c.3092T>A (p.Val1031Glu) c.2948T>A (p.Val983Glu) c.3080T>A (p.Val1027Glu) n.2253T>A c.3164T>A (p.Val1055Glu) c.3005T>A (p.Val1002Glu) c.2444T>A (p.Val815Glu) n.3177T>A c.3269T>A (p.Val1090Glu) c.3182T>A (p.Val1061Glu) | |
1 | g.9727003T>C | CA17787163 | PIK3CD | c.*2346T>C (n.*2346T>C) c.2996T>C (p.Val999Ala) c.3089T>C (p.Val1030Ala) c.3092T>C (p.Val1031Ala) c.2948T>C (p.Val983Ala) c.3080T>C (p.Val1027Ala) n.2253T>C c.3164T>C (p.Val1055Ala) c.3005T>C (p.Val1002Ala) c.2444T>C (p.Val815Ala) n.3177T>C c.3269T>C (p.Val1090Ala) c.3182T>C (p.Val1061Ala) | dbSNP |
1 | g.9727003T>G | CA338308916 | PIK3CD | c.*2346T>G (n.*2346T>G) c.2996T>G (p.Val999Gly) c.3089T>G (p.Val1030Gly) c.3092T>G (p.Val1031Gly) c.2948T>G (p.Val983Gly) c.3080T>G (p.Val1027Gly) n.2253T>G c.3164T>G (p.Val1055Gly) c.3005T>G (p.Val1002Gly) c.2444T>G (p.Val815Gly) n.3177T>G c.3269T>G (p.Val1090Gly) c.3182T>G (p.Val1061Gly) | |
1 | g.9727003T= | CA1140630728 | PIK3CD | c.*2346T= (n.*2346T=) c.2996T= (p.Val999=) c.3089T= (p.Val1030=) c.3092T= (p.Val1031=) c.2948T= (p.Val983=) c.3080T= (p.Val1027=) n.2253T= c.3164T= (p.Val1055=) c.3005T= (p.Val1002=) c.2444T= (p.Val815=) n.3177T= c.3269T= (p.Val1090=) c.3182T= (p.Val1061=) | |
1 | g.9727004G>A | CA415876086 | PIK3CD | c.*2347G>A (n.*2347G>A) c.2997G>A (p.Val999=) c.3090G>A (p.Val1030=) c.3093G>A (p.Val1031=) c.2949G>A (p.Val983=) c.3081G>A (p.Val1027=) n.2254G>A c.3165G>A (p.Val1055=) c.3006G>A (p.Val1002=) c.2445G>A (p.Val815=) n.3178G>A c.3270G>A (p.Val1090=) c.3183G>A (p.Val1061=) | gnomAD v4 |
1 | g.9727004G>C | CA577729 | PIK3CD | c.*2347G>C (n.*2347G>C) c.2997G>C (p.Val999=) c.3090G>C (p.Val1030=) c.3093G>C (p.Val1031=) c.2949G>C (p.Val983=) c.3081G>C (p.Val1027=) n.2254G>C c.3165G>C (p.Val1055=) c.3006G>C (p.Val1002=) c.2445G>C (p.Val815=) n.3178G>C c.3270G>C (p.Val1090=) c.3183G>C (p.Val1061=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.9727004G= | CA1142280479 | PIK3CD | c.*2347G= (n.*2347G=) c.2997G= (p.Val999=) c.3090G= (p.Val1030=) c.3093G= (p.Val1031=) c.2949G= (p.Val983=) c.3081G= (p.Val1027=) n.2254G= c.3165G= (p.Val1055=) c.3006G= (p.Val1002=) c.2445G= (p.Val815=) n.3178G= c.3270G= (p.Val1090=) c.3183G= (p.Val1061=) | |
1 | g.9727004G>T | CA415876084 | PIK3CD | c.*2347G>T (n.*2347G>T) c.2997G>T (p.Val999=) c.3090G>T (p.Val1030=) c.3093G>T (p.Val1031=) c.2949G>T (p.Val983=) c.3081G>T (p.Val1027=) n.2254G>T c.3165G>T (p.Val1055=) c.3006G>T (p.Val1002=) c.2445G>T (p.Val815=) n.3178G>T c.3270G>T (p.Val1090=) c.3183G>T (p.Val1061=) | |
1 | g.9727005A= | CA1143480869 | PIK3CD | c.*2348A= (n.*2348A=) c.2998A= (p.Asn1000=) c.3091A= (p.Asn1031=) c.3094A= (p.Asn1032=) c.2950A= (p.Asn984=) c.3082A= (p.Asn1028=) n.2255A= c.3166A= (p.Asn1056=) c.3007A= (p.Asn1003=) c.2446A= (p.Asn816=) n.3179A= c.3271A= (p.Asn1091=) c.3184A= (p.Asn1062=) | |
1 | g.9727005A>C | CA338308918 | PIK3CD | c.*2348A>C (n.*2348A>C) c.2998A>C (p.Asn1000His) c.3091A>C (p.Asn1031His) c.3094A>C (p.Asn1032His) c.2950A>C (p.Asn984His) c.3082A>C (p.Asn1028His) n.2255A>C c.3166A>C (p.Asn1056His) c.3007A>C (p.Asn1003His) c.2446A>C (p.Asn816His) n.3179A>C c.3271A>C (p.Asn1091His) c.3184A>C (p.Asn1062His) | |
1 | g.9727005A>G | CA17787171 | PIK3CD | c.*2348A>G (n.*2348A>G) c.2998A>G (p.Asn1000Asp) c.3091A>G (p.Asn1031Asp) c.3094A>G (p.Asn1032Asp) c.2950A>G (p.Asn984Asp) c.3082A>G (p.Asn1028Asp) n.2255A>G c.3166A>G (p.Asn1056Asp) c.3007A>G (p.Asn1003Asp) c.2446A>G (p.Asn816Asp) n.3179A>G c.3271A>G (p.Asn1091Asp) c.3184A>G (p.Asn1062Asp) | dbSNP |
1 | g.9727005A>T | CA338308917 | PIK3CD | c.*2348A>T (n.*2348A>T) c.2998A>T (p.Asn1000Tyr) c.3091A>T (p.Asn1031Tyr) c.3094A>T (p.Asn1032Tyr) c.2950A>T (p.Asn984Tyr) c.3082A>T (p.Asn1028Tyr) n.2255A>T c.3166A>T (p.Asn1056Tyr) c.3007A>T (p.Asn1003Tyr) c.2446A>T (p.Asn816Tyr) n.3179A>T c.3271A>T (p.Asn1091Tyr) c.3184A>T (p.Asn1062Tyr) | |
1 | g.9727006A>C | CA338308919 | PIK3CD | c.*2349A>C (n.*2349A>C) c.2999A>C (p.Asn1000Thr) c.3092A>C (p.Asn1031Thr) c.3095A>C (p.Asn1032Thr) c.2951A>C (p.Asn984Thr) c.3083A>C (p.Asn1028Thr) n.2256A>C c.3167A>C (p.Asn1056Thr) c.3008A>C (p.Asn1003Thr) c.2447A>C (p.Asn816Thr) n.3180A>C c.3272A>C (p.Asn1091Thr) c.3185A>C (p.Asn1062Thr) | |
1 | g.9727006A>G | CA338308920 | PIK3CD | c.*2349A>G (n.*2349A>G) c.2999A>G (p.Asn1000Ser) c.3092A>G (p.Asn1031Ser) c.3095A>G (p.Asn1032Ser) c.2951A>G (p.Asn984Ser) c.3083A>G (p.Asn1028Ser) n.2256A>G c.3167A>G (p.Asn1056Ser) c.3008A>G (p.Asn1003Ser) c.2447A>G (p.Asn816Ser) n.3180A>G c.3272A>G (p.Asn1091Ser) c.3185A>G (p.Asn1062Ser) | |
1 | g.9727006A>T | CA338308921 | PIK3CD | c.*2349A>T (n.*2349A>T) c.2999A>T (p.Asn1000Ile) c.3092A>T (p.Asn1031Ile) c.3095A>T (p.Asn1032Ile) c.2951A>T (p.Asn984Ile) c.3083A>T (p.Asn1028Ile) n.2256A>T c.3167A>T (p.Asn1056Ile) c.3008A>T (p.Asn1003Ile) c.2447A>T (p.Asn816Ile) n.3180A>T c.3272A>T (p.Asn1091Ile) c.3185A>T (p.Asn1062Ile) |