Full data view for gene PIK3CD

Information The variants shown are described using the NM_005026.3 transcript reference sequence.

223 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-138+1940T>C N/A N/A g.9713800T>C Copied from the Exome Variant Server PIK3CD_000001 1/11932 0/8190 1/3742 - - - - - - -
?/? c.-138+1990T>C N/A N/A g.9713850T>C Copied from the Exome Variant Server PIK3CD_000002 168/11922 2/8200 166/3722 - - - - - - -
?/? c.-138+2101G>T N/A N/A g.9713961G>T Copied from the Exome Variant Server PIK3CD_000003 2/12190 0/8308 2/3882 - - - - - - -
?/? c.-138+2162G>C N/A N/A g.9714022G>C Copied from the Exome Variant Server PIK3CD_000004 4/12228 0/8312 4/3916 - - - - - - -
?/? c.-138+2193C>T N/A N/A g.9714053C>T Copied from the Exome Variant Server PIK3CD_000005 7/12118 0/8204 7/3914 - - - - - - -
?/? c.-138+2204del N/A N/A g.9714064del Copied from the Exome Variant Server PIK3CD_000006 3/11518 3/7776 0/3742 - - - - - - -
?/? c.-138+2234G>A N/A N/A g.9714094G>A Copied from the Exome Variant Server PIK3CD_000007 1/11672 0/7900 1/3772 - - - - - - -
?/? c.-138+2353C>T r.(=) p.(=) g.9714213C>T Copied from the Exome Variant Server PIK3CD_000008 1/12074 0/8238 1/3836 - - - - - - -
?/? c.-138+2379T>C r.(=) p.(=) g.9714239T>C Copied from the Exome Variant Server PIK3CD_000009 2/12160 2/8290 0/3870 - - - - - - -
?/? c.-138+2387A>G r.(=) p.(=) g.9714247A>G Copied from the Exome Variant Server PIK3CD_000010 2858/12186 1832/8290 1026/3896 - - - - - - -
?/? c.-138+2480C>T N/A N/A g.9714340C>T Copied from the Exome Variant Server PIK3CD_000011 103/12406 93/8350 10/4056 - - - - - - -
?/? c.-138+2484G>A N/A N/A g.9714344G>A Copied from the Exome Variant Server PIK3CD_000012 1/12426 1/8358 0/4068 - - - - - - -
?/? c.-138+2505G>A N/A N/A g.9714365G>A Copied from the Exome Variant Server PIK3CD_000013 51/12430 20/8360 31/4070 - - - - - - -
?/? c.-138+2508G>A N/A N/A g.9714368G>A Copied from the Exome Variant Server PIK3CD_000014 1/12428 1/8362 0/4066 - - - - - - -
?/? c.-138+2512G>A N/A N/A g.9714372G>A Copied from the Exome Variant Server PIK3CD_000015 1/12450 0/8366 1/4084 - - - - - - -
?/? c.-138+2672A>G N/A N/A g.9714532A>G Copied from the Exome Variant Server PIK3CD_000016 3/11808 0/8132 3/3676 - - - - - - -
?/? c.-138+2678_-138+2679insGAGGCCAGA N/A N/A g.9714538_9714539insGAGGCCAGA Copied from the Exome Variant Server PIK3CD_000017 5672/11134 2877/7710 2795/3424 - - - - - - -
?/? c.-138+2681_-138+2682insCA N/A N/A g.9714541_9714542insCA Copied from the Exome Variant Server PIK3CD_000018 2198/9236 1044/7136 1154/2100 - - - - - - -
?/? c.-138+2681_-138+2683del N/A N/A g.9714541_9714543del Copied from the Exome Variant Server PIK3CD_000019 2161/9384 1007/7182 1154/2202 - - - - - - -
?/? c.-138+2683_-138+2684insCCCC N/A N/A g.9714543_9714544insCCCC Copied from the Exome Variant Server PIK3CD_000020 2797/9978 1322/7366 1475/2612 - - - - - - -
?/? c.-138+2683_-138+2684insCTCC N/A N/A g.9714543_9714544insCTCC Copied from the Exome Variant Server PIK3CD_000021 13/9978 0/7366 13/2612 - - - - - - -
?/? c.-138+2684_-138+2685insCCCCAG N/A N/A g.9714544_9714545insCCCCAG Copied from the Exome Variant Server PIK3CD_000022 3596/10164 1709/7418 1887/2746 - - - - - - -
?/? c.-13G>A r.(=) p.(=) g.9770501G>A Copied from the Exome Variant Server PIK3CD_000023 8/13006 1/8600 7/4406 - - - - - - -
?/? c.24C>A r.(=) p.(=) g.9770537C>A Copied from the Exome Variant Server PIK3CD_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.57C>T r.(=) p.(=) g.9770570C>T Copied from the Exome Variant Server PIK3CD_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.58G>A r.(?) p.(Val20Ile) g.9770571G>A Copied from the Exome Variant Server PIK3CD_000026 4/13006 2/8600 2/4406 - - - - - - -
?/? c.142-3C>T r.spl? p.? g.9775596C>T Copied from the Exome Variant Server PIK3CD_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.171G>T r.(=) p.(=) g.9775628G>T Copied from the Exome Variant Server PIK3CD_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.247G>C r.(?) p.(Glu83Gln) g.9775704G>C Copied from the Exome Variant Server PIK3CD_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.291C>T r.(=) p.(=) g.9775748C>T Copied from the Exome Variant Server PIK3CD_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.292G>A r.(?) p.(Val98Ile) g.9775749G>A Copied from the Exome Variant Server PIK3CD_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.360C>G r.(=) p.(=) g.9775817C>G Copied from the Exome Variant Server PIK3CD_000032 1/13004 0/8598 1/4406 - - - - - - -
?/? c.370+11C>G r.(=) p.(=) g.9775838C>G Copied from the Exome Variant Server PIK3CD_000033 1/13004 1/8598 0/4406 - - - - - - -
?/? c.370+12G>A r.(=) p.(=) g.9775839G>A Copied from the Exome Variant Server PIK3CD_000034 2/13004 0/8598 2/4406 - - - - - - -
?/? c.370+20C>T r.(=) p.(=) g.9775847C>T Copied from the Exome Variant Server PIK3CD_000036 3/13002 1/8598 2/4404 - - - - - - -
?/? c.370+29G>A r.(=) p.(=) g.9775856G>A Copied from the Exome Variant Server PIK3CD_000038 22/13000 1/8598 21/4402 - - - - - - -
?/? c.371-21C>G r.(=) p.(=) g.9775886C>G Copied from the Exome Variant Server PIK3CD_000040 1/12982 0/8586 1/4396 - - - - - - -
?/? c.371-5C>T r.spl? p.? g.9775902C>T Copied from the Exome Variant Server PIK3CD_000042 4/12970 3/8584 1/4386 - - - - - - -
?/? c.371-3C>T r.spl? p.? g.9775904C>T Copied from the Exome Variant Server PIK3CD_000044 274/12972 4/8582 270/4390 - - - - - - -
?/? c.436T>A r.(?) p.(Phe146Ile) g.9775972T>A Copied from the Exome Variant Server PIK3CD_000046 9/12992 9/8590 0/4402 - - - - - - -
?/? c.449C>T r.(?) p.(Ala150Val) g.9775985C>T Copied from the Exome Variant Server PIK3CD_000048 5/12966 0/8578 5/4388 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.9775989C>T Copied from the Exome Variant Server PIK3CD_000050 1/12920 0/8550 1/4370 - - - - - - -
?/? c.454G>A r.(?) p.(Ala152Thr) g.9775990G>A Copied from the Exome Variant Server PIK3CD_000052 1/12892 0/8532 1/4360 - - - - - - -
?/? c.521C>T r.(?) p.(Ser174Leu) g.9776057C>T Copied from the Exome Variant Server PIK3CD_000054 1/12992 1/8594 0/4398 - - - - - - -
?/? c.522G>A r.(=) p.(=) g.9776058G>A Copied from the Exome Variant Server PIK3CD_000056 2/12984 2/8590 0/4394 - - - - - - -
?/? c.524C>T r.(?) p.(Ala175Val) g.9776060C>T Copied from the Exome Variant Server PIK3CD_000035 1/12982 1/8590 0/4392 - - - - - - -
?/? c.598G>A r.(?) p.(Glu200Lys) g.9776134G>A Copied from the Exome Variant Server PIK3CD_000037 2/12876 2/8524 0/4352 - - - - - - -
?/? c.600+22G>A r.(=) p.(=) g.9776158G>A Copied from the Exome Variant Server PIK3CD_000039 1/12758 0/8456 1/4302 - - - - - - -
?/? c.601-35C>T r.(=) p.(=) g.9776463C>T Copied from the Exome Variant Server PIK3CD_000041 31/12992 30/8588 1/4404 - - - - - - -
?/? c.601-27G>A r.(=) p.(=) g.9776471G>A Copied from the Exome Variant Server PIK3CD_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.639G>A r.(=) p.(=) g.9776536G>A Copied from the Exome Variant Server PIK3CD_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.678A>G r.(=) p.(=) g.9776575A>G Copied from the Exome Variant Server PIK3CD_000047 472/13006 9/8600 463/4406 - - - - - - -
?/? c.692C>T r.(?) p.(Pro231Leu) g.9776589C>T Copied from the Exome Variant Server PIK3CD_000049 1/12994 1/8594 0/4400 - - - - - - -
?/? c.707C>T r.(?) p.(Pro236Leu) g.9776604C>T Copied from the Exome Variant Server PIK3CD_000051 1/13000 1/8598 0/4402 - - - - - - -
?/? c.708G>A r.(=) p.(=) g.9776605G>A Copied from the Exome Variant Server PIK3CD_000053 69/13002 1/8600 68/4402 - - - - - - -
?/? c.720G>A r.(=) p.(=) g.9776617G>A Copied from the Exome Variant Server PIK3CD_000055 1/13000 0/8596 1/4404 - - - - - - -
?/? c.768C>T r.(=) p.(=) g.9776665C>T Copied from the Exome Variant Server PIK3CD_000057 1/12806 1/8472 0/4334 - - - - - - -
?/? c.780+3G>A r.spl? p.? g.9776680G>A Copied from the Exome Variant Server PIK3CD_000058 1/12682 1/8396 0/4286 - - - - - - -
?/? c.781-36C>T r.(=) p.(=) g.9776981C>T Copied from the Exome Variant Server PIK3CD_000059 2/13006 2/8600 0/4406 - - - - - - -
?/? c.781-35G>A r.(=) p.(=) g.9776982G>A Copied from the Exome Variant Server PIK3CD_000060 3/13006 2/8600 1/4406 - - - - - - -
?/? c.781-28C>T r.(=) p.(=) g.9776989C>T Copied from the Exome Variant Server PIK3CD_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.825C>G r.(=) p.(=) g.9777061C>G Copied from the Exome Variant Server PIK3CD_000062 8/13006 0/8600 8/4406 - - - - - - -
?/? c.849C>T r.(=) p.(=) g.9777085C>T Copied from the Exome Variant Server PIK3CD_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.852C>T r.(=) p.(=) g.9777088C>T Copied from the Exome Variant Server PIK3CD_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.856C>A r.(=) p.(=) g.9777092C>A Copied from the Exome Variant Server PIK3CD_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.9777106C>T Copied from the Exome Variant Server PIK3CD_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.886G>A r.(?) p.(Val296Ile) g.9777122G>A Copied from the Exome Variant Server PIK3CD_000067 394/13006 6/8600 388/4406 - - - - - - -
?/? c.896C>T r.(?) p.(Pro299Leu) g.9777132C>T Copied from the Exome Variant Server PIK3CD_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.897G>A r.(=) p.(=) g.9777133G>A Copied from the Exome Variant Server PIK3CD_000069 2/13006 0/8600 2/4406 - - - - - - -
?/? c.930+17C>T r.(=) p.(=) g.9777183C>T Copied from the Exome Variant Server PIK3CD_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.930+25C>T r.(=) p.(=) g.9777191C>T Copied from the Exome Variant Server PIK3CD_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.930+38C>T r.(=) p.(=) g.9777204C>T Copied from the Exome Variant Server PIK3CD_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.931-31G>A r.(=) p.(=) g.9777564G>A Copied from the Exome Variant Server PIK3CD_000075 2/13006 2/8600 0/4406 - - - - - - -
?/? c.931-19C>G r.(=) p.(=) g.9777576C>G Copied from the Exome Variant Server PIK3CD_000078 5/13006 5/8600 0/4406 - - - - - - -
?/? c.931-9G>C r.(=) p.(=) g.9777586G>C Copied from the Exome Variant Server PIK3CD_000080 206/13006 183/8600 23/4406 - - - - - - -
?/? c.935C>G r.(?) p.(Ser312Cys) g.9777599C>G Copied from the Exome Variant Server PIK3CD_000082 280/13006 257/8600 23/4406 - - - - - - -
?/? c.976G>A r.(?) p.(Glu326Lys) g.9777640G>A Copied from the Exome Variant Server PIK3CD_000084 2/13006 1/8600 1/4406 - - - - - - -
?/? c.987G>T r.(?) p.(Gln329His) g.9777651G>T Copied from the Exome Variant Server PIK3CD_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.999G>A r.(=) p.(=) g.9777663G>A Copied from the Exome Variant Server PIK3CD_000088 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1002C>T r.(=) p.(=) g.9777666C>T Copied from the Exome Variant Server PIK3CD_000090 71/13006 1/8600 70/4406 - - - - - - -
?/? c.1004C>G r.(?) p.(Ala335Gly) g.9777668C>G Copied from the Exome Variant Server PIK3CD_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1005C>T r.(=) p.(=) g.9777669C>T Copied from the Exome Variant Server PIK3CD_000094 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1013G>A r.(?) p.(Arg338Gln) g.9777677G>A Copied from the Exome Variant Server PIK3CD_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1020+13G>A r.(=) p.(=) g.9777697G>A Copied from the Exome Variant Server PIK3CD_000098 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1020+13_1020+14insGATA r.(=) p.(=) g.9777697_9777698insGATA Copied from the Exome Variant Server PIK3CD_000100 10/12520 9/8254 1/4266 - - - - - - -
?/? c.1020+14G>A r.(=) p.(=) g.9777698G>A Copied from the Exome Variant Server PIK3CD_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1021-45G>T r.(=) p.(=) g.9778707G>T Copied from the Exome Variant Server PIK3CD_000104 76/13004 17/8598 59/4406 - - - - - - -
?/? c.1035C>T r.(=) p.(=) g.9778766C>T Copied from the Exome Variant Server PIK3CD_000106 50/13006 0/8600 50/4406 - - - - - - -
?/? c.1047C>T r.(=) p.(=) g.9778778C>T Copied from the Exome Variant Server PIK3CD_000108 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1093G>A r.(?) p.(Val365Met) g.9778824G>A Copied from the Exome Variant Server PIK3CD_000110 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1100C>T r.(?) p.(Ser367Leu) g.9778831C>T Copied from the Exome Variant Server PIK3CD_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1108G>A r.(?) p.(Val370Met) g.9778839G>A Copied from the Exome Variant Server PIK3CD_000114 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1121G>A r.(?) p.(Arg374Gln) g.9778852G>A Copied from the Exome Variant Server PIK3CD_000116 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1147G>A r.(?) p.(Asp383Asn) g.9778878G>A Copied from the Exome Variant Server PIK3CD_000118 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157G>A r.(?) p.(Arg386His) g.9778888G>A Copied from the Exome Variant Server PIK3CD_000120 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1188C>T r.(=) p.(=) g.9778919C>T Copied from the Exome Variant Server PIK3CD_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1212T>C r.(=) p.(=) g.9778943T>C Copied from the Exome Variant Server PIK3CD_000074 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1227G>A r.(=) p.(=) g.9778958G>A Copied from the Exome Variant Server PIK3CD_000076 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1242+15C>T r.(=) p.(=) g.9778988C>T Copied from the Exome Variant Server PIK3CD_000077 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1242+16G>A r.(=) p.(=) g.9778989G>A Copied from the Exome Variant Server PIK3CD_000079 2/13006 0/8600 2/4406 - - - - - - -
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