|
NM_005026.5(PIK3CD):c.2348-30C>T
|
rs11589267
|
0.33011
|
|
NM_181523.3(PIK3R1):c.334+14A>C
|
rs706714
|
0.31124
|
|
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)
|
rs706713
|
0.31073
|
|
NM_181523.3(PIK3R1):c.428-21G>A
|
rs171649
|
0.28654
|
|
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)
|
rs3730089
|
0.22679
|
|
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=)
|
rs11121484
|
0.22663
|
|
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)
|
rs3730090
|
0.04903
|
|
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)
|
rs3729981
|
0.04683
|
|
NM_005026.5(PIK3CD):c.678A>G (p.Thr226=)
|
rs2230735
|
0.03898
|
|
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile)
|
rs28730668
|
0.02942
|
|
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)
|
rs61749601
|
0.02836
|
|
NM_005026.5(PIK3CD):c.1522-19T>C
|
rs77571929
|
0.02260
|
|
NM_005026.5(PIK3CD):c.1689+20T>C
|
rs181919452
|
0.02153
|
|
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys)
|
rs61755420
|
0.01937
|
|
NM_005026.5(PIK3CD):c.371-3C>T
|
rs113176101
|
0.01792
|
|
NM_005026.5(PIK3CD):c.931-9G>C
|
rs28730669
|
0.01748
|
|
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=)
|
rs139848768
|
0.01195
|
|
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=)
|
rs140468930
|
0.00813
|
|
NM_181523.3(PIK3R1):c.1118+11G>A
|
rs140892282
|
0.00661
|
|
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)
|
rs73768883
|
0.00567
|
|
NM_005026.5(PIK3CD):c.1002C>T (p.Asn334=)
|
rs28730670
|
0.00506
|
|
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)
|
rs28730671
|
0.00483
|
|
NM_005026.5(PIK3CD):c.708G>A (p.Pro236=)
|
rs145697393
|
0.00469
|
|
NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=)
|
rs28730672
|
0.00360
|
|
NM_005026.5(PIK3CD):c.2820T>C (p.His940=)
|
rs28730679
|
0.00350
|
|
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala)
|
rs28730674
|
0.00337
|
|
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=)
|
rs151278626
|
0.00268
|
|
NM_005026.5(PIK3CD):c.2235C>T (p.Cys745=)
|
rs138742347
|
0.00252
|
|
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)
|
rs34175949
|
0.00140
|
|
NM_005026.5(PIK3CD):c.1863C>T (p.Tyr621=)
|
rs151235777
|
0.00139
|
|
NM_005026.5(PIK3CD):c.1470+13C>T
|
rs553468301
|
0.00120
|
|
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile)
|
rs142285826
|
0.00117
|
|
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)
|
rs143168081
|
0.00114
|
|
NM_005026.5(PIK3CD):c.3093G>C (p.Val1031=)
|
rs149090253
|
0.00113
|
|
NM_181523.3(PIK3R1):c.427+5C>A
|
rs375394677
|
0.00088
|
|
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=)
|
rs115808092
|
0.00085
|
|
NM_005026.5(PIK3CD):c.1812-17G>A
|
rs201032317
|
0.00083
|
|
NM_181523.3(PIK3R1):c.1426-20T>G
|
rs201254436
|
0.00083
|
|
NM_181523.3(PIK3R1):c.334+12T>C
|
rs189754791
|
0.00068
|
|
NM_005026.5(PIK3CD):c.371-5C>T
|
rs149617980
|
0.00064
|
|
NM_005026.5(PIK3CD):c.2873G>A (p.Gly958Asp)
|
rs142907633
|
0.00063
|
|
NM_005026.5(PIK3CD):c.3114G>A (p.Val1038=)
|
rs138398486
|
0.00053
|
|
NM_005026.5(PIK3CD):c.2314G>A (p.Gly772Ser)
|
rs149376192
|
0.00048
|
|
NM_005026.5(PIK3CD):c.1021-20C>G
|
rs199911701
|
0.00046
|
|
NM_005026.5(PIK3CD):c.449C>T (p.Ala150Val)
|
rs201492009
|
0.00044
|
|
NM_005026.5(PIK3CD):c.825C>G (p.Thr275=)
|
rs149175819
|
0.00043
|
|
NM_005026.5(PIK3CD):c.930+10C>T
|
rs771792085
|
0.00041
|
|
NM_005026.5(PIK3CD):c.1047C>T (p.His349=)
|
rs148357976
|
0.00039
|
|
NM_005026.5(PIK3CD):c.2427-7T>G
|
rs369339827
|
0.00038
|
|
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=)
|
rs370548772
|
0.00036
|
|
NM_005026.5(PIK3CD):c.2265G>A (p.Lys755=)
|
rs139778709
|
0.00035
|
|
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=)
|
rs149905863
|
0.00033
|
|
NM_181523.3(PIK3R1):c.1020-3C>T
|
rs200653607
|
0.00031
|
|
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)
|
rs141200414
|
0.00028
|
|
NM_181523.3(PIK3R1):c.917-3C>T
|
rs566631081
|
0.00028
|
|
NM_005026.5(PIK3CD):c.2571C>T (p.Asn857=)
|
rs143575165
|
0.00026
|
|
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=)
|
rs146664456
|
0.00026
|
|
NM_181523.3(PIK3R1):c.917-1513G>T
|
rs144312303
|
0.00026
|
|
NM_005026.5(PIK3CD):c.1108G>A (p.Val370Met)
|
rs143521812
|
0.00025
|
|
NM_005026.5(PIK3CD):c.2454C>T (p.Thr818=)
|
rs140234838
|
0.00024
|
|
NM_005026.5(PIK3CD):c.931-19C>G
|
rs373116206
|
0.00022
|
|
NM_005026.5(PIK3CD):c.1309C>T (p.Arg437Cys)
|
rs28730673
|
0.00021
|
|
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg)
|
rs143068130
|
0.00021
|
|
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=)
|
rs61749602
|
0.00021
|
|
NM_005026.5(PIK3CD):c.1242+15C>T
|
rs372679083
|
0.00020
|
|
NM_181523.3(PIK3R1):c.634+6T>C
|
rs199530427
|
0.00020
|
|
NM_005026.5(PIK3CD):c.142-3C>T
|
rs201635199
|
0.00019
|
|
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)
|
rs148059720
|
0.00019
|
|
NM_005026.5(PIK3CD):c.1319A>G (p.Tyr440Cys)
|
rs1035624064
|
0.00018
|
|
NM_005026.5(PIK3CD):c.2235-18C>T
|
rs190144154
|
0.00018
|
|
NM_005026.5(PIK3CD):c.1542C>T (p.Ile514=)
|
rs138470050
|
0.00017
|
|
NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr)
|
rs557471275
|
0.00017
|
|
NM_181523.3(PIK3R1):c.1020-19T>C
|
rs373504515
|
0.00017
|
|
NM_005026.5(PIK3CD):c.1121G>A (p.Arg374Gln)
|
rs370509251
|
0.00016
|
|
NM_005026.5(PIK3CD):c.780+3G>A
|
rs370943912
|
0.00016
|
|
NM_005026.5(PIK3CD):c.897G>A (p.Pro299=)
|
rs149279787
|
0.00016
|
|
NM_005026.5(PIK3CD):c.1350C>T (p.Gly450=)
|
rs149764166
|
0.00015
|
|
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=)
|
rs17847317
|
0.00015
|
|
NM_181523.3(PIK3R1):c.334+18G>A
|
rs181402217
|
0.00015
|
|
NM_005026.5(PIK3CD):c.1459G>A (p.Ala487Thr)
|
rs201282174
|
0.00014
|
|
NM_005026.5(PIK3CD):c.2631C>G (p.Leu877=)
|
rs368751278
|
0.00014
|
|
NM_005026.5(PIK3CD):c.58G>A (p.Val20Ile)
|
rs143116020
|
0.00014
|
|
NM_005026.5(PIK3CD):c.156C>T (p.Arg52=)
|
rs558577650
|
0.00013
|
|
NM_005026.5(PIK3CD):c.24C>A (p.Pro8=)
|
rs145290703
|
0.00013
|
|
NM_005026.5(PIK3CD):c.2676C>T (p.Gly892=)
|
rs139941605
|
0.00013
|
|
NM_005026.5(PIK3CD):c.720G>A (p.Thr240=)
|
rs376290726
|
0.00013
|
|
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys)
|
rs545136223
|
0.00012
|
|
NM_005026.5(PIK3CD):c.2865-19C>T
|
rs371194095
|
0.00012
|
|
NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala)
|
rs142050444
|
0.00012
|
|
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys)
|
rs765729544
|
0.00011
|
|
NM_005026.5(PIK3CD):c.1131C>T (p.Phe377=)
|
rs113124534
|
0.00011
|
|
NM_005026.5(PIK3CD):c.1470+16G>A
|
rs573337389
|
0.00011
|
|
NM_005026.5(PIK3CD):c.780+9G>A
|
rs200867219
|
0.00011
|
|
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=)
|
rs538021528
|
0.00011
|
|
NM_181523.3(PIK3R1):c.335-17G>T
|
rs201772482
|
0.00011
|
|
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
|
rs141981005
|
0.00011
|
|
NM_005026.5(PIK3CD):c.2426+16C>A
|
rs371461473
|
0.00010
|
|
NM_005026.5(PIK3CD):c.370+20C>T
|
rs370926559
|
0.00010
|
|
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=)
|
rs781406681
|
0.00010
|
|
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=)
|
rs201618039
|
0.00010
|
|
NM_005026.5(PIK3CD):c.1486C>A (p.Arg496=)
|
rs903288945
|
0.00009
|
|
NM_005026.5(PIK3CD):c.1726G>A (p.Val576Ile)
|
rs199549932
|
0.00009
|
|
NM_005026.5(PIK3CD):c.2234+15C>T
|
rs368394850
|
0.00009
|
|
NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu)
|
rs200369205
|
0.00009
|
|
NM_005026.5(PIK3CD):c.2719-7C>T
|
rs199593360
|
0.00009
|
|
NM_005026.5(PIK3CD):c.2997+10G>A
|
rs377699493
|
0.00009
|
|
NM_005026.5(PIK3CD):c.2998-15G>A
|
rs200233248
|
0.00009
|
|
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=)
|
rs771574512
|
0.00009
|
|
NM_181523.3(PIK3R1):c.534T>C (p.Asp178=)
|
rs376359156
|
0.00009
|
|
NM_005026.5(PIK3CD):c.1020+13G>A
|
rs377072140
|
0.00008
|
|
NM_005026.5(PIK3CD):c.1227G>A (p.Lys409=)
|
rs145985960
|
0.00008
|
|
NM_005026.5(PIK3CD):c.2592G>A (p.Pro864=)
|
rs201426574
|
0.00008
|
|
NM_005026.5(PIK3CD):c.2661T>C (p.Tyr887=)
|
rs148030152
|
0.00008
|
|
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)
|
rs369430343
|
0.00008
|
|
NM_181523.3(PIK3R1):c.1119-9T>C
|
rs369244066
|
0.00008
|
|
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=)
|
rs776598336
|
0.00008
|
|
NM_005026.5(PIK3CD):c.1501G>A (p.Val501Met)
|
rs999028906
|
0.00007
|
|
NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=)
|
rs190710687
|
0.00007
|
|
NM_005026.5(PIK3CD):c.231G>A (p.Ala77=)
|
rs756139699
|
0.00007
|
|
NM_005026.5(PIK3CD):c.2340C>T (p.Asn780=)
|
rs112529690
|
0.00007
|
|
NM_005026.5(PIK3CD):c.2745T>C (p.Phe915=)
|
rs768710822
|
0.00007
|
|
NM_005026.5(PIK3CD):c.342C>T (p.Asn114=)
|
rs201273776
|
0.00007
|
|
NM_005026.5(PIK3CD):c.633C>T (p.Asp211=)
|
rs757257476
|
0.00007
|
|
NM_005026.5(PIK3CD):c.999G>A (p.Val333=)
|
rs142215538
|
0.00007
|
|
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)
|
rs571644641
|
0.00006
|
|
NM_005026.5(PIK3CD):c.1339+17G>A
|
rs370327350
|
0.00006
|
|
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His)
|
rs373779625
|
0.00006
|
|
NM_005026.5(PIK3CD):c.1402G>A (p.Ala468Thr)
|
rs761356083
|
0.00006
|
|
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met)
|
rs370932461
|
0.00006
|
|
NM_005026.5(PIK3CD):c.2544C>T (p.Ala848=)
|
rs144576067
|
0.00006
|
|
NM_005026.5(PIK3CD):c.291C>T (p.Pro97=)
|
rs371336444
|
0.00006
|
|
NM_005026.5(PIK3CD):c.455C>T (p.Ala152Val)
|
rs755788138
|
0.00006
|
|
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile)
|
rs143572224
|
0.00006
|
|
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu)
|
rs377030014
|
0.00006
|
|
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=)
|
rs1420907388
|
0.00006
|
|
NM_005026.5(PIK3CD):c.1212T>C (p.Ala404=)
|
rs375505004
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1512C>T (p.Thr504=)
|
rs1557668655
|
0.00005
|
|
NM_005026.5(PIK3CD):c.17A>G (p.Asp6Gly)
|
rs749032083
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1824G>A (p.Leu608=)
|
rs778839252
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1881C>T (p.Cys627=)
|
rs781606420
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1955+15C>T
|
rs186998116
|
0.00005
|
|
NM_005026.5(PIK3CD):c.2206G>A (p.Asp736Asn)
|
rs547875116
|
0.00005
|
|
NM_005026.5(PIK3CD):c.2461C>T (p.Arg821Cys)
|
rs140820694
|
0.00005
|
|
NM_005026.5(PIK3CD):c.2781C>T (p.Arg927=)
|
rs772251920
|
0.00005
|
|
NM_005026.5(PIK3CD):c.600+13G>A
|
rs768012867
|
0.00005
|
|
NM_005026.5(PIK3CD):c.930+11G>A
|
rs372023382
|
0.00005
|
|
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)
|
rs368742778
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1070C>T (p.Thr357Met)
|
rs775700162
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1339+3C>T
|
rs763675477
|
0.00004
|
|
NM_005026.5(PIK3CD):c.141+15C>T
|
rs753713947
|
0.00004
|
|
NM_005026.5(PIK3CD):c.142-12C>T
|
rs140984297
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1470+19G>A
|
rs373478602
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1521+12G>A
|
rs1045173798
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1534C>T (p.Arg512Trp)
|
rs765797019
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1785C>T (p.Phe595=)
|
rs375016049
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1802G>A (p.Arg601Gln)
|
rs138090835
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1892A>G (p.Lys631Arg)
|
rs769421641
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1959C>T (p.Ser653=)
|
rs536302735
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1969G>A (p.Val657Met)
|
rs756589761
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2100G>A (p.Lys700=)
|
rs1000657997
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2347+6G>A
|
rs368607726
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2899C>T (p.Leu967=)
|
rs762613598
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2949G>A (p.Ala983=)
|
rs527893231
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2997+9C>T
|
rs746376416
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2998-18G>A
|
rs554946921
|
0.00004
|
|
NM_005026.5(PIK3CD):c.2998-19C>T
|
rs766219239
|
0.00004
|
|
NM_005026.5(PIK3CD):c.3015G>T (p.Gly1005=)
|
rs776778083
|
0.00004
|
|
NM_005026.5(PIK3CD):c.522G>A (p.Ser174=)
|
rs372837939
|
0.00004
|
|
NM_005026.5(PIK3CD):c.558G>A (p.Pro186=)
|
rs748818520
|
0.00004
|
|
NM_005026.5(PIK3CD):c.57C>T (p.Ser19=)
|
rs376606452
|
0.00004
|
|
NM_005026.5(PIK3CD):c.634G>A (p.Val212Met)
|
rs781191290
|
0.00004
|
|
NM_005026.5(PIK3CD):c.899G>A (p.Arg300His)
|
rs780386111
|
0.00004
|
|
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=)
|
rs144238662
|
0.00004
|
|
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr)
|
rs367923318
|
0.00004
|
|
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)
|
rs774531250
|
0.00004
|
|
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)
|
rs758929943
|
0.00004
|
|
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=)
|
rs374140006
|
0.00004
|
|
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys)
|
rs547196342
|
0.00004
|
|
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile)
|
rs747881833
|
0.00004
|
|
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=)
|
rs745860837
|
0.00004
|
|
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr)
|
rs771365361
|
0.00004
|
|
NM_005026.5(PIK3CD):c.1011G>A (p.Glu337=)
|
rs746707652
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1014G>A (p.Arg338=)
|
rs768748041
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1021-3C>T
|
rs933446799
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1179G>A (p.Ala393=)
|
rs763087095
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)
|
rs758253493
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1353G>A (p.Glu451=)
|
rs147088845
|
0.00003
|
|
NM_005026.5(PIK3CD):c.138G>A (p.Lys46=)
|
rs749939527
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1470+15C>T
|
rs375880685
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1503G>A (p.Val501=)
|
rs577709153
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1607A>G (p.His536Arg)
|
rs1198694875
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1635G>A (p.Ala545=)
|
rs769971778
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1716G>A (p.Pro572=)
|
rs780188245
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1965G>A (p.Met655Ile)
|
rs1211872659
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1973C>T (p.Pro658Leu)
|
rs780565270
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1992C>T (p.Phe664=)
|
rs555070504
|
0.00003
|
|
NM_005026.5(PIK3CD):c.2235-17G>A
|
rs760680625
|
0.00003
|
|
NM_005026.5(PIK3CD):c.2313C>T (p.Gly771=)
|
rs769073614
|
0.00003
|
|
NM_005026.5(PIK3CD):c.2426+9C>A
|
rs1347046772
|
0.00003
|
|
NM_005026.5(PIK3CD):c.323G>T (p.Arg108Leu)
|
rs765031777
|
0.00003
|
|
NM_005026.5(PIK3CD):c.371-4G>A
|
rs775036315
|
0.00003
|
|
NM_005026.5(PIK3CD):c.373C>A (p.Leu125Ile)
|
rs1410662789
|
0.00003
|
|
NM_005026.5(PIK3CD):c.521C>T (p.Ser174Leu)
|
rs148638384
|
0.00003
|
|
NM_005026.5(PIK3CD):c.538C>A (p.Pro180Thr)
|
rs767838052
|
0.00003
|
|
NM_005026.5(PIK3CD):c.849C>T (p.Leu283=)
|
rs376128746
|
0.00003
|
|
NM_181523.3(PIK3R1):c.108C>A (p.Ser36=)
|
rs775593894
|
0.00003
|
|
NM_181523.3(PIK3R1):c.1507C>A (p.Arg503=)
|
rs759347287
|
0.00003
|
|
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val)
|
rs767837787
|
0.00003
|
|
NM_181523.3(PIK3R1):c.513C>T (p.Ser171=)
|
rs781475250
|
0.00003
|
|
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met)
|
rs112487959
|
0.00003
|
|
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys)
|
rs763278796
|
0.00003
|
|
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)
|
rs142439210
|
0.00003
|
|
NM_005026.5(PIK3CD):c.1008C>T (p.Asp336=)
|
rs778249568
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1188C>T (p.Ala396=)
|
rs144635462
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1209G>A (p.Lys403=)
|
rs753363954
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1340-6G>A
|
rs750252742
|
0.00002
|
|
NM_005026.5(PIK3CD):c.141+16G>A
|
rs753609009
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1446C>T (p.Pro482=)
|
rs764261934
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1496A>C (p.Glu499Ala)
|
rs922490667
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1522-10C>T
|
rs532059953
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1522-15G>C
|
rs760799238
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1642C>T (p.Arg548Trp)
|
rs780269932
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1689+14C>T
|
rs547520693
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1690-13C>T
|
rs762120007
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1734C>T (p.Ser578=)
|
rs541094509
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1983C>T (p.Ala661=)
|
rs771457935
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2043G>A (p.Val681=)
|
rs767467135
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2055+4A>G
|
rs761254166
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2168C>T (p.Ala723Val)
|
rs765640030
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2173C>G (p.Leu725Val)
|
rs143471703
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2214C>A (p.Ser738Arg)
|
rs755934302
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2489G>A (p.Arg830His)
|
rs756497515
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2718+20C>T
|
rs533834224
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2754T>C (p.Asn918=)
|
rs143846503
|
0.00002
|
|
NM_005026.5(PIK3CD):c.2763C>T (p.Thr921=)
|
rs748275524
|
0.00002
|
|
NM_005026.5(PIK3CD):c.450G>A (p.Ala150=)
|
rs757650225
|
0.00002
|
|
NM_005026.5(PIK3CD):c.453C>T (p.Ala151=)
|
rs369860279
|
0.00002
|
|
NM_005026.5(PIK3CD):c.557C>T (p.Pro186Leu)
|
rs779715026
|
0.00002
|
|
NM_005026.5(PIK3CD):c.62T>C (p.Val21Ala)
|
rs770275584
|
0.00002
|
|
NM_005026.5(PIK3CD):c.732C>T (p.Asn244=)
|
rs751020278
|
0.00002
|
|
NM_005026.5(PIK3CD):c.765G>A (p.Pro255=)
|
rs928182057
|
0.00002
|
|
NM_005026.5(PIK3CD):c.780+8C>T
|
rs541784762
|
0.00002
|
|
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His)
|
rs773473376
|
0.00002
|
|
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser)
|
rs751595991
|
0.00002
|
|
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His)
|
rs755043940
|
0.00002
|
|
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)
|
rs762818071
|
0.00002
|
|
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=)
|
rs758397455
|
0.00002
|
|
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val)
|
rs200820769
|
0.00002
|
|
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly)
|
rs1481771249
|
0.00002
|
|
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)
|
rs771919405
|
0.00002
|
|
NM_005026.5(PIK3CD):c.1053C>T (p.Asn351=)
|
rs776959413
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1065C>T (p.Cys355=)
|
rs770064539
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1092C>A (p.Ser364Arg)
|
rs774630166
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1146C>T (p.Cys382=)
|
rs746151747
|
0.00001
|
|
NM_005026.5(PIK3CD):c.114C>T (p.Arg38=)
|
rs767121276
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1224G>A (p.Lys408=)
|
rs573113022
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1243-5T>C
|
rs1476300761
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1251C>T (p.Pro417=)
|
rs113023172
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1271T>C (p.Met424Thr)
|
rs755144547
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1290C>T (p.Asp430=)
|
rs748134247
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1340-12C>T
|
rs767519516
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1347G>A (p.Lys449=)
|
rs376093013
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1368G>A (p.Thr456=)
|
rs141809100
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1401C>T (p.Ser467=)
|
rs200295565
|
0.00001
|
|
NM_005026.5(PIK3CD):c.141+13T>C
|
rs780068298
|
0.00001
|
|
NM_005026.5(PIK3CD):c.141+3A>G
|
rs1465930805
|
0.00001
|
|
NM_005026.5(PIK3CD):c.142-18C>T
|
rs769114762
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1439C>T (p.Pro480Leu)
|
rs766145180
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1440G>A (p.Pro480=)
|
rs374803520
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1458C>T (p.Pro486=)
|
rs757377156
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1470+18C>T
|
rs1004233476
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1483G>A (p.Gly495Arg)
|
rs1342430054
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1487G>A (p.Arg496Gln)
|
rs761958757
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1495G>A (p.Glu499Lys)
|
rs767714303
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1533G>A (p.Leu511=)
|
rs550395550
|
0.00001
|
|
NM_005026.5(PIK3CD):c.155G>A (p.Arg52His)
|
rs772851443
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1587C>A (p.Asp529Glu)
|
rs1332713912
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1602G>A (p.Leu534=)
|
rs112862628
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1626C>T (p.Phe542=)
|
rs771209593
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1641C>G (p.Ala547=)
|
rs1404901928
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1689+10G>C
|
rs1165564211
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe)
|
rs1302155596
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1710C>T (p.Ser570=)
|
rs200918933
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1714C>T (p.Pro572Ser)
|
rs1570385564
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1765G>T (p.Asp589Tyr)
|
rs371700599
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1774G>A (p.Val592Ile)
|
rs893249484
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1811C>T (p.Thr604Met)
|
rs754072203
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1864G>A (p.Glu622Lys)
|
rs993552815
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1871A>C (p.Tyr624Ser)
|
rs771265754
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1882G>A (p.Glu628Lys)
|
rs1287221059
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1902G>C (p.Leu634=)
|
rs775172291
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1922G>A (p.Arg641His)
|
rs761809287
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1929C>T (p.Ile643=)
|
rs1162906502
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1955+13G>C
|
rs914584237
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1955+5C>T
|
rs201785210
|
0.00001
|
|
NM_005026.5(PIK3CD):c.1956-18C>T
|
rs1277108902
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2055+19G>T
|
rs752258456
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2055+5G>A
|
rs1648720883
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2055+9C>T
|
rs766867573
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2056-18C>T
|
rs1371278455
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2074C>G (p.Leu692Val)
|
rs1481047336
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2194C>G (p.Gln732Glu)
|
rs376114835
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2205C>T (p.Leu735=)
|
rs766999562
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2296G>A (p.Glu766Lys)
|
rs745896452
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2311G>A (p.Gly771Ser)
|
rs200226248
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2312G>T (p.Gly771Val)
|
rs749787380
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2348-15C>T
|
rs763935039
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2364G>C (p.Met788Ile)
|
rs1247300105
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2463C>T (p.Arg821=)
|
rs372847419
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2488C>T (p.Arg830Cys)
|
rs554743340
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2502C>T (p.Ile834=)
|
rs573418132
|
0.00001
|
|
NM_005026.5(PIK3CD):c.252C>T (p.Asp84=)
|
rs755377648
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2547C>T (p.Ala849=)
|
rs1648971857
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2591C>T (p.Pro864Leu)
|
rs148984508
|
0.00001
|
|
NM_005026.5(PIK3CD):c.259C>T (p.Arg87Trp)
|
rs768486795
|
0.00001
|
|
NM_005026.5(PIK3CD):c.262C>T (p.Arg88Cys)
|
rs1557659540
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2688C>T (p.Ser896=)
|
rs777576647
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2805C>T (p.Thr935=)
|
rs538974291
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2823G>C (p.Val941=)
|
rs752373388
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2830C>G (p.Gln944Glu)
|
rs757964104
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2865-13C>T
|
rs750348816
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2869C>T (p.Arg957Trp)
|
rs758647199
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2872G>T (p.Gly958Cys)
|
rs755117692
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2905C>T (p.Arg969Cys)
|
rs551657853
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2922C>T (p.Phe974=)
|
rs753648373
|
0.00001
|
|
NM_005026.5(PIK3CD):c.2973C>T (p.Cys991=)
|
rs549586919
|
0.00001
|
|
NM_005026.5(PIK3CD):c.304G>A (p.Val102Met)
|
rs1647296006
|
0.00001
|
|
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His)
|
rs759704849
|
0.00001
|
|
NM_005026.5(PIK3CD):c.321C>T (p.Asp107=)
|
rs1017772805
|
0.00001
|
|
NM_005026.5(PIK3CD):c.324C>T (p.Arg108=)
|
rs540840239
|
0.00001
|
|
NM_005026.5(PIK3CD):c.328A>C (p.Lys110Gln)
|
rs1449263530
|
0.00001
|
|
NM_005026.5(PIK3CD):c.357C>T (p.Leu119=)
|
rs755510703
|
0.00001
|
|
NM_005026.5(PIK3CD):c.371-4G>T
|
rs775036315
|
0.00001
|
|
NM_005026.5(PIK3CD):c.371-6C>T
|
rs1423778949
|
0.00001
|
|
NM_005026.5(PIK3CD):c.397G>A (p.Asp133Asn)
|
rs754053878
|
0.00001
|
|
NM_005026.5(PIK3CD):c.39C>G (p.Thr13=)
|
rs771088388
|
0.00001
|
|
NM_005026.5(PIK3CD):c.401C>T (p.Pro134Leu)
|
rs1351397800
|
0.00001
|
|
NM_005026.5(PIK3CD):c.420C>T (p.Arg140=)
|
rs998200055
|
0.00001
|
|
NM_005026.5(PIK3CD):c.4C>A (p.Pro2Thr)
|
rs541082914
|
0.00001
|
|
NM_005026.5(PIK3CD):c.563G>A (p.Arg188Gln)
|
rs748146002
|
0.00001
|
|
NM_005026.5(PIK3CD):c.580G>A (p.Val194Ile)
|
rs569586715
|
0.00001
|
|
NM_005026.5(PIK3CD):c.600+17C>T
|
rs750783205
|
0.00001
|
|
NM_005026.5(PIK3CD):c.601-18C>A
|
rs1011774127
|
0.00001
|
|
NM_005026.5(PIK3CD):c.640C>T (p.Leu214=)
|
rs1285730929
|
0.00001
|
|
NM_005026.5(PIK3CD):c.658G>T (p.Ala220Ser)
|
rs1287665655
|
0.00001
|
|
NM_005026.5(PIK3CD):c.685C>T (p.Arg229Trp)
|
rs761298080
|
0.00001
|
|
NM_005026.5(PIK3CD):c.707C>T (p.Pro236Leu)
|
rs373049250
|
0.00001
|
|
NM_005026.5(PIK3CD):c.781-17C>T
|
rs781221321
|
0.00001
|
|
NM_005026.5(PIK3CD):c.781-7G>A
|
rs770192569
|
0.00001
|
|
NM_005026.5(PIK3CD):c.781-8C>T
|
rs746443536
|
0.00001
|
|
NM_005026.5(PIK3CD):c.859G>C (p.Asp287His)
|
rs1446283598
|
0.00001
|
|
NM_005026.5(PIK3CD):c.866A>G (p.Gln289Arg)
|
rs969868296
|
0.00001
|
|
NM_005026.5(PIK3CD):c.8C>T (p.Pro3Leu)
|
rs780051553
|
0.00001
|
|
NM_005026.5(PIK3CD):c.923C>T (p.Ala308Val)
|
rs749687214
|
0.00001
|
|
NM_005026.5(PIK3CD):c.931-10C>T
|
rs553438382
|
0.00001
|
|
NM_005026.5(PIK3CD):c.976G>A (p.Glu326Lys)
|
rs148703447
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1019+6G>C
|
rs749016701
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1020-8C>G
|
rs770213442
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1080G>A (p.Ala360=)
|
rs758102357
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1118+5G>A
|
rs773388284
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln)
|
rs766524768
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1194C>T (p.Phe398=)
|
rs755664296
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln)
|
rs748784250
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1300-10A>T
|
rs377666209
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=)
|
rs935776281
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1332T>C (p.Ala444=)
|
rs1230274577
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1413C>T (p.Thr471=)
|
rs1580262909
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1568+18T>G
|
rs772367889
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1568+7del
|
rs762253615
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1569-17G>A
|
rs780706346
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1569-18C>T
|
rs557466936
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1605C>A (p.Ile535=)
|
rs1747639846
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1653G>A (p.Lys551=)
|
rs775385667
|
0.00001
|
|
NM_181523.3(PIK3R1):c.168A>G (p.Leu56=)
|
rs972790556
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1785C>T (p.Asn595=)
|
rs760360348
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val)
|
rs1747710716
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=)
|
rs779578323
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2100C>T (p.His700=)
|
rs1438509498
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser)
|
rs374119964
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=)
|
rs1454328791
|
0.00001
|
|
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile)
|
rs755953968
|
0.00001
|
|
NM_181523.3(PIK3R1):c.291T>C (p.Val97=)
|
rs751812106
|
0.00001
|
|
NM_181523.3(PIK3R1):c.330A>G (p.Gln110=)
|
rs371843549
|
0.00001
|
|
NM_181523.3(PIK3R1):c.334+4A>G
|
rs1263122579
|
0.00001
|
|
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=)
|
rs762006134
|
0.00001
|
|
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=)
|
rs201402919
|
0.00001
|
|
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met)
|
rs752552706
|
0.00001
|
|
NM_181523.3(PIK3R1):c.427+4A>C
|
rs1380740486
|
0.00001
|
|
NM_181523.3(PIK3R1):c.445C>T (p.Leu149=)
|
rs767073354
|
0.00001
|
|
NM_181523.3(PIK3R1):c.450C>T (p.Tyr150=)
|
rs1339790364
|
0.00001
|
|
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter)
|
rs1230037871
|
0.00001
|
|
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
|
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)
|
rs771949848
|
0.00001
|
|
NM_181523.3(PIK3R1):c.540C>T (p.His180=)
|
rs529029580
|
0.00001
|
|
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr)
|
rs765008592
|
0.00001
|
|
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=)
|
rs778360098
|
0.00001
|
|
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)
|
rs533077843
|
0.00001
|
|
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln)
|
rs1477562598
|
0.00001
|
|
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser)
|
rs1418066079
|
0.00001
|
|
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=)
|
rs1331105445
|
0.00001
|
|
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val)
|
rs773185995
|
0.00001
|
|
NM_181523.3(PIK3R1):c.634+11T>C
|
rs1287288917
|
0.00001
|
|
NM_181523.3(PIK3R1):c.635-11T>A
|
rs745306907
|
0.00001
|
|
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)
|
rs150689648
|
0.00001
|
|
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu)
|
rs1486145236
|
0.00001
|
|
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)
|
rs147303522
|
0.00001
|
|
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)
|
rs1184502086
|
0.00001
|
|
NM_181523.3(PIK3R1):c.768A>G (p.Lys256=)
|
rs1746797017
|
0.00001
|
|
NM_181523.3(PIK3R1):c.837-11C>T
|
rs1226781279
|
0.00001
|
|
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr)
|
rs759526958
|
0.00001
|
|
NM_181523.3(PIK3R1):c.917-4792G>A
|
rs1747126586
|
0.00001
|
|
NM_181523.3(PIK3R1):c.960C>T (p.Asn320=)
|
rs201809898
|
0.00001
|
|
NM_181523.3(PIK3R1):c.9T>C (p.Ala3=)
|
rs1447146494
|
0.00001
|
|
NC_000001.10:g.(?_9770494)_(10690064_?)del
|
|
|
|
NC_000001.10:g.(?_9770494)_(9787124_?)del
|
|
|
|
NC_000001.10:g.(?_9770514)_(11264780_?)del
|
|
|
|
NC_000001.11:g.(?_9710436)_(9727066_?)dup
|
|
|
|
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)
|
rs28730670
|
|
|
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)
|
rs28730670
|
|
|
NM_005026.5(PIK3CD):c.1004C>G (p.Ala335Gly)
|
|
|
|
NM_005026.5(PIK3CD):c.1006G>A (p.Asp336Asn)
|
rs760642664
|
|
|
NM_005026.5(PIK3CD):c.1009G>C (p.Glu337Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.1012C>A (p.Arg338=)
|
|
|
|
NM_005026.5(PIK3CD):c.1013G>A (p.Arg338Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.1020+15_1020+18dup
|
rs755190125
|
|
|
NM_005026.5(PIK3CD):c.1020+9C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1021-14G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1021-16C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1021-17C>A
|
rs2100906404
|
|
|
NM_005026.5(PIK3CD):c.1021-17C>G
|
rs2100906404
|
|
|
NM_005026.5(PIK3CD):c.1021-7T>A
|
|
|
|
NM_005026.5(PIK3CD):c.1021-9C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu)
|
rs2100907022
|
|
|
NM_005026.5(PIK3CD):c.1029G>A (p.Val343=)
|
rs1385002426
|
|
|
NM_005026.5(PIK3CD):c.1047C>G (p.His349Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.1048G>A (p.Gly350Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.104_105del (p.Pro35fs)
|
|
|
|
NM_005026.5(PIK3CD):c.1054G>A (p.Glu352Lys)
|
|
|
|
NM_005026.5(PIK3CD):c.1057A>G (p.Met353Val)
|
rs1647973216
|
|
|
NM_005026.5(PIK3CD):c.105T>G (p.Pro35=)
|
rs1311974494
|
|
|
NM_005026.5(PIK3CD):c.1072G>C (p.Val358Leu)
|
rs763569477
|
|
|
NM_005026.5(PIK3CD):c.1073T>C (p.Val358Ala)
|
|
|
|
NM_005026.5(PIK3CD):c.1083G>A (p.Ser361=)
|
|
|
|
NM_005026.5(PIK3CD):c.1083G>C (p.Ser361=)
|
rs1001849803
|
|
|
NM_005026.5(PIK3CD):c.1083G>T (p.Ser361=)
|
rs1001849803
|
|
|
NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val)
|
rs1647979472
|
|
|
NM_005026.5(PIK3CD):c.1092C>T (p.Ser364=)
|
rs774630166
|
|
|
NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.1101G>A (p.Ser367=)
|
rs750134067
|
|
|
NM_005026.5(PIK3CD):c.1114A>G (p.Lys372Glu)
|
|
|
|
NM_005026.5(PIK3CD):c.112C>A (p.Arg38Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.113G>T (p.Arg38Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.1153C>T (p.Pro385Ser)
|
rs2100908773
|
|
|
NM_005026.5(PIK3CD):c.1157G>A (p.Arg386His)
|
rs373591202
|
|
|
NM_005026.5(PIK3CD):c.1165C>T (p.Arg389Cys)
|
|
|
|
NM_005026.5(PIK3CD):c.1179G>T (p.Ala393=)
|
|
|
|
NM_005026.5(PIK3CD):c.1185C>T (p.Tyr395=)
|
|
|
|
NM_005026.5(PIK3CD):c.1188C>G (p.Ala396=)
|
|
|
|
NM_005026.5(PIK3CD):c.1194C>T (p.Ile398=)
|
rs760322402
|
|
|
NM_005026.5(PIK3CD):c.1214G>A (p.Arg405His)
|
rs1219279866
|
|
|
NM_005026.5(PIK3CD):c.121A>C (p.Asn41His)
|
rs1647005150
|
|
|
NM_005026.5(PIK3CD):c.1220C>T (p.Thr407Ile)
|
|
|
|
NM_005026.5(PIK3CD):c.1241C>T (p.Ala414Val)
|
|
|
|
NM_005026.5(PIK3CD):c.1242+13G>A
|
rs2100910295
|
|
|
NM_005026.5(PIK3CD):c.1242+13G>T
|
|
|
|
NM_005026.5(PIK3CD):c.1242+16G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1243-11T>C
|
|
|
|
NM_005026.5(PIK3CD):c.1243-15C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1243-16C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1243-9C>T
|
rs2100933627
|
|
|
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg)
|
rs587777390
|
|
|
NM_005026.5(PIK3CD):c.1257C>T (p.Ala419=)
|
|
|
|
NM_005026.5(PIK3CD):c.1269C>T (p.Leu423=)
|
|
|
|
NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)
|
|
|
|
NM_005026.5(PIK3CD):c.1284C>T (p.Tyr428=)
|
rs151045167
|
|
|
NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)
|
|
|
|
NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)
|
|
|
|
NM_005026.5(PIK3CD):c.12G>A (p.Gly4=)
|
|
|
|
NM_005026.5(PIK3CD):c.12G>T (p.Gly4=)
|
|
|
|
NM_005026.5(PIK3CD):c.1302C>T (p.Thr434=)
|
|
|
|
NM_005026.5(PIK3CD):c.1303G>A (p.Gly435Arg)
|
|
|
|
NM_005026.5(PIK3CD):c.1306G>T (p.Glu436Ter)
|
|
|
|
NM_005026.5(PIK3CD):c.1310G>A (p.Arg437His)
|
|
|
|
NM_005026.5(PIK3CD):c.1331C>T (p.Ser444Phe)
|
rs759238357
|
|
|
NM_005026.5(PIK3CD):c.1332C>A (p.Ser444=)
|
rs574697107
|
|
|
NM_005026.5(PIK3CD):c.1332C>T (p.Ser444=)
|
rs574697107
|
|
|
NM_005026.5(PIK3CD):c.1333G>A (p.Val445Ile)
|
rs762320758
|
|
|
NM_005026.5(PIK3CD):c.1339+16G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1339+17G>C
|
rs370327350
|
|
|
NM_005026.5(PIK3CD):c.1339+20G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1339+4G>A
|
rs751591906
|
|
|
NM_005026.5(PIK3CD):c.1339+6C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1339+8C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1340-10_1340-9del
|
rs2100937652
|
|
|
NM_005026.5(PIK3CD):c.1344G>C (p.Glu448Asp)
|
|
|
|
NM_005026.5(PIK3CD):c.1353G>C (p.Glu451Asp)
|
rs147088845
|
|
|
NM_005026.5(PIK3CD):c.1354C>T (p.Leu452=)
|
rs2100938056
|
|
|
NM_005026.5(PIK3CD):c.1355T>C (p.Leu452Pro)
|
|
|
|
NM_005026.5(PIK3CD):c.1362C>T (p.Asn454=)
|
|
|
|
NM_005026.5(PIK3CD):c.1363C>T (p.Pro455Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.1367C>T (p.Thr456Met)
|
|
|
|
NM_005026.5(PIK3CD):c.1378C>T (p.Arg460Cys)
|
|
|
|
NM_005026.5(PIK3CD):c.1383T>G (p.Ser461Arg)
|
|
|
|
NM_005026.5(PIK3CD):c.1389C>T (p.Pro463=)
|
rs2100938427
|
|
|
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)
|
rs368722127
|
|
|
NM_005026.5(PIK3CD):c.1395G>A (p.Thr465=)
|
|
|
|
NM_005026.5(PIK3CD):c.1404C>T (p.Ala468=)
|
rs771683726
|
|
|
NM_005026.5(PIK3CD):c.142-17G>A
|
|
|
|
NM_005026.5(PIK3CD):c.142-7C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1428C>T (p.Pro476=)
|
|
|
|
NM_005026.5(PIK3CD):c.1432G>A (p.Val478Met)
|
rs1648292751
|
|
|
NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr)
|
rs1648293206
|
|
|
NM_005026.5(PIK3CD):c.1442A>C (p.His481Pro)
|
|
|
|
NM_005026.5(PIK3CD):c.1470+12C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1470+18C>A
|
|
|
|
NM_005026.5(PIK3CD):c.1471-11G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1471-8T>G
|
|
|
|
NM_005026.5(PIK3CD):c.1474T>C (p.Leu492=)
|
rs2100949699
|
|
|
NM_005026.5(PIK3CD):c.1475T>C (p.Leu492Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.1478A>C (p.Glu493Ala)
|
rs966409603
|
|
|
NM_005026.5(PIK3CD):c.1478A>G (p.Glu493Gly)
|
|
|
|
NM_005026.5(PIK3CD):c.1484G>A (p.Gly495Glu)
|
|
|
|
NM_005026.5(PIK3CD):c.1486_1487delinsTT (p.Arg496Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.1494C>T (p.Ser498=)
|
|
|
|
NM_005026.5(PIK3CD):c.1503G>C (p.Val501=)
|
rs577709153
|
|
|
NM_005026.5(PIK3CD):c.1504C>T (p.His502Tyr)
|
|
|
|
NM_005026.5(PIK3CD):c.1521+10G>C
|
|
|
|
NM_005026.5(PIK3CD):c.1521+15G>T
|
|
|
|
NM_005026.5(PIK3CD):c.1521+17T>C
|
|
|
|
NM_005026.5(PIK3CD):c.1521+19T>G
|
rs766335273
|
|
|
NM_005026.5(PIK3CD):c.1521+5G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1522-16T>C
|
rs772209868
|
|
|
NM_005026.5(PIK3CD):c.1522-16T>G
|
|
|
|
NM_005026.5(PIK3CD):c.1522-18C>G
|
|
|
|
NM_005026.5(PIK3CD):c.1549C>T (p.Arg517Trp)
|
|
|
|
NM_005026.5(PIK3CD):c.1550G>A (p.Arg517Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.1552C>T (p.Arg518Trp)
|
|
|
|
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn)
|
rs2100954909
|
|
|
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser)
|
rs2100954945
|
|
|
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)
|
rs587777389
|
|
|
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)
|
rs1557669079
|
|
|
NM_005026.5(PIK3CD):c.1577A>G (p.His526Arg)
|
|
|
|
NM_005026.5(PIK3CD):c.1578C>T (p.His526=)
|
|
|
|
NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys)
|
rs749871179
|
|
|
NM_005026.5(PIK3CD):c.1605G>C (p.Arg535=)
|
|
|
|
NM_005026.5(PIK3CD):c.1618G>C (p.Glu540Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.1628C>T (p.Pro543Leu)
|
rs2100955722
|
|
|
NM_005026.5(PIK3CD):c.1634C>T (p.Ala545Val)
|
rs1220175470
|
|
|
NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)
|
|
|
|
NM_005026.5(PIK3CD):c.1643G>A (p.Arg548Gln)
|
rs1297091785
|
|
|
NM_005026.5(PIK3CD):c.164A>G (p.Tyr55Cys)
|
|
|
|
NM_005026.5(PIK3CD):c.1651C>T (p.Leu551=)
|
rs1648518909
|
|
|
NM_005026.5(PIK3CD):c.1653G>C (p.Leu551=)
|
|
|
|
NM_005026.5(PIK3CD):c.1656C>T (p.Val552=)
|
|
|
|
NM_005026.5(PIK3CD):c.165T>C (p.Tyr55=)
|
|
|
|
NM_005026.5(PIK3CD):c.1662G>A (p.Lys554=)
|
|
|
|
NM_005026.5(PIK3CD):c.1673A>G (p.His558Arg)
|
rs1648521215
|
|
|
NM_005026.5(PIK3CD):c.1687C>T (p.Gln563Ter)
|
|
|
|
NM_005026.5(PIK3CD):c.1689+13G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1689+15G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1689+16C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1689+9G>A
|
rs767118563
|
|
|
NM_005026.5(PIK3CD):c.1690-12G>A
|
rs767850407
|
|
|
NM_005026.5(PIK3CD):c.1690-16C>A
|
|
|
|
NM_005026.5(PIK3CD):c.1690-20C>G
|
|
|
|
NM_005026.5(PIK3CD):c.1690-3C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1690-4C>G
|
rs371112902
|
|
|
NM_005026.5(PIK3CD):c.1690-4C>T
|
rs371112902
|
|
|
NM_005026.5(PIK3CD):c.1690-5C>G
|
rs772912444
|
|
|
NM_005026.5(PIK3CD):c.1690-6C>T
|
rs879255387
|
|
|
NM_005026.5(PIK3CD):c.1690-7C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1695C>T (p.Leu565=)
|
|
|
|
NM_005026.5(PIK3CD):c.1699C>G (p.Leu567Val)
|
|
|
|
NM_005026.5(PIK3CD):c.171G>A (p.Pro57=)
|
rs373365253
|
|
|
NM_005026.5(PIK3CD):c.171G>T (p.Pro57=)
|
rs373365253
|
|
|
NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs)
|
rs2100840815
|
|
|
NM_005026.5(PIK3CD):c.1727T>C (p.Val576Ala)
|
|
|
|
NM_005026.5(PIK3CD):c.1738C>G (p.Leu580Val)
|
|
|
|
NM_005026.5(PIK3CD):c.1744C>T (p.Leu582=)
|
|
|
|
NM_005026.5(PIK3CD):c.1758C>T (p.Ser586=)
|
|
|
|
NM_005026.5(PIK3CD):c.1761C>T (p.Phe587=)
|
|
|
|
NM_005026.5(PIK3CD):c.1764C>T (p.Pro588=)
|
|
|
|
NM_005026.5(PIK3CD):c.1775T>C (p.Val592Ala)
|
rs776226369
|
|
|
NM_005026.5(PIK3CD):c.1789A>G (p.Ile597Val)
|
rs2100963194
|
|
|
NM_005026.5(PIK3CD):c.1796C>T (p.Ser599Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.1797G>A (p.Ser599=)
|
rs141159861
|
|
|
NM_005026.5(PIK3CD):c.1797G>T (p.Ser599=)
|
rs141159861
|
|
|
NM_005026.5(PIK3CD):c.17A>C (p.Asp6Ala)
|
rs749032083
|
|
|
NM_005026.5(PIK3CD):c.1801C>T (p.Arg601Trp)
|
rs763994711
|
|
|
NM_005026.5(PIK3CD):c.1803G>A (p.Arg601=)
|
|
|
|
NM_005026.5(PIK3CD):c.1807C>T (p.Leu603=)
|
|
|
|
NM_005026.5(PIK3CD):c.1809G>T (p.Leu603=)
|
rs151278626
|
|
|
NM_005026.5(PIK3CD):c.1811+14G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1811+16G>A
|
|
|
|
NM_005026.5(PIK3CD):c.1811+17C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1812-11C>T
|
rs2100966985
|
|
|
NM_005026.5(PIK3CD):c.1812-18C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1816G>A (p.Asp606Asn)
|
|
|
|
NM_005026.5(PIK3CD):c.1824G>T (p.Leu608=)
|
|
|
|
NM_005026.5(PIK3CD):c.1845G>A (p.Leu615=)
|
|
|
|
NM_005026.5(PIK3CD):c.1846G>A (p.Val616Met)
|
rs1648646851
|
|
|
NM_005026.5(PIK3CD):c.1851G>A (p.Gln617=)
|
|
|
|
NM_005026.5(PIK3CD):c.186C>G (p.Leu62=)
|
rs1340942614
|
|
|
NM_005026.5(PIK3CD):c.1887G>A (p.Leu629=)
|
|
|
|
NM_005026.5(PIK3CD):c.1905C>T (p.Asp635=)
|
rs1456414758
|
|
|
NM_005026.5(PIK3CD):c.1915G>A (p.Ala639Thr)
|
|
|
|
NM_005026.5(PIK3CD):c.1921C>T (p.Arg641Cys)
|
|
|
|
NM_005026.5(PIK3CD):c.192C>A (p.Gly64=)
|
|
|
|
NM_005026.5(PIK3CD):c.1954C>T (p.Arg652Cys)
|
|
|
|
NM_005026.5(PIK3CD):c.1955+20C>A
|
|
|
|
NM_005026.5(PIK3CD):c.1956-12_1956-10dup
|
rs748807669
|
|
|
NM_005026.5(PIK3CD):c.1956-13C>T
|
|
|
|
NM_005026.5(PIK3CD):c.1956-15C>G
|
rs757736517
|
|
|
NM_005026.5(PIK3CD):c.195C>G (p.Pro65=)
|
rs752425885
|
|
|
NM_005026.5(PIK3CD):c.195C>T (p.Pro65=)
|
|
|
|
NM_005026.5(PIK3CD):c.1968C>T (p.His656=)
|
|
|
|
NM_005026.5(PIK3CD):c.1974G>A (p.Pro658=)
|
rs113257776
|
|
|
NM_005026.5(PIK3CD):c.1977G>A (p.Ser659=)
|
|
|
|
NM_005026.5(PIK3CD):c.1993G>A (p.Gly665Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.2041G>A (p.Val681Met)
|
|
|
|
NM_005026.5(PIK3CD):c.2055+18G>T
|
|
|
|
NM_005026.5(PIK3CD):c.2055+7C>A
|
|
|
|
NM_005026.5(PIK3CD):c.2056-11C>G
|
|
|
|
NM_005026.5(PIK3CD):c.2056-6C>A
|
rs2100975055
|
|
|
NM_005026.5(PIK3CD):c.2059G>A (p.Glu687Lys)
|
|
|
|
NM_005026.5(PIK3CD):c.2082C>G (p.Ala694=)
|
|
|
|
NM_005026.5(PIK3CD):c.2085G>A (p.Leu695=)
|
|
|
|
NM_005026.5(PIK3CD):c.2095G>A (p.Val699Ile)
|
rs751020974
|
|
|
NM_005026.5(PIK3CD):c.210C>T (p.Phe70=)
|
|
|
|
NM_005026.5(PIK3CD):c.2119C>A (p.Pro707Thr)
|
|
|
|
NM_005026.5(PIK3CD):c.2148C>T (p.His716=)
|
|
|
|
NM_005026.5(PIK3CD):c.2164G>T (p.Glu722Ter)
|
|
|
|
NM_005026.5(PIK3CD):c.2184C>T (p.Leu728=)
|
|
|
|
NM_005026.5(PIK3CD):c.2193G>C (p.Leu731=)
|
|
|
|
NM_005026.5(PIK3CD):c.2205C>G (p.Leu735=)
|
|
|
|
NM_005026.5(PIK3CD):c.2217C>T (p.Thr739=)
|
|
|
|
NM_005026.5(PIK3CD):c.221A>G (p.Asn74Ser)
|
rs1043386158
|
|
|
NM_005026.5(PIK3CD):c.2234+10A>G
|
rs2100977194
|
|
|
NM_005026.5(PIK3CD):c.2234+16G>A
|
|
|
|
NM_005026.5(PIK3CD):c.2235-17G>T
|
rs760680625
|
|
|
NM_005026.5(PIK3CD):c.2247C>T (p.Cys749=)
|
|
|
|
NM_005026.5(PIK3CD):c.2277G>A (p.Leu759=)
|
rs1269924178
|
|
|
NM_005026.5(PIK3CD):c.2295C>G (p.Asn765Lys)
|
|
|
|
NM_005026.5(PIK3CD):c.2295C>T (p.Asn765=)
|
rs972860101
|
|
|
NM_005026.5(PIK3CD):c.230C>T (p.Ala77Val)
|
|
|
|
NM_005026.5(PIK3CD):c.2310C>T (p.Ser770=)
|
|
|
|
NM_005026.5(PIK3CD):c.2347+14C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2347+18C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2347+8C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2348-10G>A
|
|
|
|
NM_005026.5(PIK3CD):c.2348-11C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2348-11_2356del
|
rs1648840773
|
|
|
NM_005026.5(PIK3CD):c.2348-13G>C
|
|
|
|
NM_005026.5(PIK3CD):c.2348-16C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2348-4A>G
|
|
|
|
NM_005026.5(PIK3CD):c.234G>A (p.Glu78=)
|
rs1647287735
|
|
|
NM_005026.5(PIK3CD):c.2353C>T (p.Arg785Trp)
|
|
|
|
NM_005026.5(PIK3CD):c.2355G>A (p.Arg785=)
|
|
|
|
NM_005026.5(PIK3CD):c.2362A>G (p.Met788Val)
|
rs1648845956
|
|
|
NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs)
|
rs1553168726
|
|
|
NM_005026.5(PIK3CD):c.2370C>G (p.Thr790=)
|
|
|
|
NM_005026.5(PIK3CD):c.2370C>T (p.Thr790=)
|
|
|
|
NM_005026.5(PIK3CD):c.2394C>T (p.Asp798=)
|
|
|
|
NM_005026.5(PIK3CD):c.2395G>A (p.Val799Ile)
|
|
|
|
NM_005026.5(PIK3CD):c.2400G>A (p.Leu800=)
|
|
|
|
NM_005026.5(PIK3CD):c.2419G>A (p.Asp807Asn)
|
rs2100982447
|
|
|
NM_005026.5(PIK3CD):c.2426+14C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2426+19C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2426+20A>G
|
rs2100982967
|
|
|
NM_005026.5(PIK3CD):c.2426+8C>T
|
rs770571023
|
|
|
NM_005026.5(PIK3CD):c.2427-16C>T
|
|
|
|
NM_005026.5(PIK3CD):c.2427-20C>A
|
|
|
|
NM_005026.5(PIK3CD):c.2427-9del
|
|
|
|
NM_005026.5(PIK3CD):c.2433C>A (p.Thr811=)
|
|
|
|
NM_005026.5(PIK3CD):c.2448C>T (p.Leu816=)
|
|
|
|
NM_005026.5(PIK3CD):c.2455G>A (p.Gly819Arg)
|
rs1648958091
|
|
|
NM_005026.5(PIK3CD):c.2462G>A (p.Arg821His)
|
|
|
|
NM_005026.5(PIK3CD):c.2481G>T (p.Val827=)
|
|
|
|
NM_005026.5(PIK3CD):c.2503G>A (p.Ala835Thr)
|
rs1648966090
|
|
|
NM_005026.5(PIK3CD):c.2545G>A (p.Ala849Thr)
|
|
|
|
NM_005026.5(PIK3CD):c.2550C>T (p.Phe850=)
|
|
|
|
NM_005026.5(PIK3CD):c.2558A>T (p.Asp853Val)
|
|
|
|
NM_005026.5(PIK3CD):c.2577G>T (p.Leu859=)
|
|
|
|
NM_005026.5(PIK3CD):c.2594+10A>G
|
|
|
|
NM_005026.5(PIK3CD):c.2594+16A>G
|
|
|
|
NM_005026.5(PIK3CD):c.2594+18G>A
|
|
|
|
NM_005026.5(PIK3CD):c.2595-4C>A
|
rs551553892
|
|
|
NM_005026.5(PIK3CD):c.2597A>T (p.Glu866Val)
|
|
|
|
NM_005026.5(PIK3CD):c.2598G>A (p.Glu866=)
|
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|
|
NM_005026.5(PIK3CD):c.2599G>T (p.Ala867Ser)
|
rs1371422939
|
|
|
NM_005026.5(PIK3CD):c.2602C>T (p.Leu868=)
|
rs2100999040
|
|
|
NM_005026.5(PIK3CD):c.2609G>A (p.Arg870Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.2613C>T (p.Ala871=)
|
|
|
|
NM_005026.5(PIK3CD):c.261G>A (p.Arg87=)
|
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|
|
NM_005026.5(PIK3CD):c.2673T>C (p.Ile891=)
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|
|
NM_005026.5(PIK3CD):c.2698A>G (p.Met900Val)
|
rs1553171728
|
|
|
NM_005026.5(PIK3CD):c.2704C>T (p.Arg902Ter)
|
|
|
|
NM_005026.5(PIK3CD):c.2705G>A (p.Arg902Gln)
|
rs202142608
|
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|
NM_005026.5(PIK3CD):c.2718+16C>A
|
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|
NM_005026.5(PIK3CD):c.2718+5dup
|
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NM_005026.5(PIK3CD):c.2719-15C>T
|
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NM_005026.5(PIK3CD):c.2719-15CTCCC[4]
|
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|
NM_005026.5(PIK3CD):c.2719-16T>C
|
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|
NM_005026.5(PIK3CD):c.2719-17C>T
|
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NM_005026.5(PIK3CD):c.2761A>G (p.Thr921Ala)
|
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|
NM_005026.5(PIK3CD):c.2764A>C (p.Lys922Gln)
|
rs2101002894
|
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NM_005026.5(PIK3CD):c.2780G>A (p.Arg927His)
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|
|
NM_005026.5(PIK3CD):c.2785C>T (p.Arg929Cys)
|
rs2101002964
|
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|
NM_005026.5(PIK3CD):c.2817C>T (p.Val939=)
|
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|
|
NM_005026.5(PIK3CD):c.2838G>A (p.Lys946=)
|
rs1553171834
|
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|
NM_005026.5(PIK3CD):c.2844T>C (p.Asn948=)
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|
NM_005026.5(PIK3CD):c.2863C>T (p.Arg955Trp)
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NM_005026.5(PIK3CD):c.2864+12T>C
|
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NM_005026.5(PIK3CD):c.2864+19C>T
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NM_005026.5(PIK3CD):c.2864+19del
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NM_005026.5(PIK3CD):c.2864+3G>A
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NM_005026.5(PIK3CD):c.2864+7G>A
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NM_005026.5(PIK3CD):c.2864+7dup
|
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NM_005026.5(PIK3CD):c.2864+9dup
|
rs1649169886
|
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NM_005026.5(PIK3CD):c.2865-3C>T
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NM_005026.5(PIK3CD):c.2865-4G>A
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NM_005026.5(PIK3CD):c.2865-7C>T
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NM_005026.5(PIK3CD):c.2870G>A (p.Arg957Gln)
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|
NM_005026.5(PIK3CD):c.2877C>T (p.Tyr959=)
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NM_005026.5(PIK3CD):c.2892C>T (p.Tyr964=)
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NM_005026.5(PIK3CD):c.2906G>A (p.Arg969His)
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|
|
NM_005026.5(PIK3CD):c.2910C>T (p.His970=)
|
rs767035763
|
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|
NM_005026.5(PIK3CD):c.2928C>T (p.His976=)
|
rs2101009278
|
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|
NM_005026.5(PIK3CD):c.2938C>T (p.Leu980=)
|
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|
NM_005026.5(PIK3CD):c.2940G>A (p.Leu980=)
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|
NM_005026.5(PIK3CD):c.2944C>A (p.Arg982=)
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|
NM_005026.5(PIK3CD):c.2944C>T (p.Arg982Trp)
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NM_005026.5(PIK3CD):c.2945G>A (p.Arg982Gln)
|
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|
NM_005026.5(PIK3CD):c.2948C>T (p.Ala983Val)
|
rs975282953
|
|
|
NM_005026.5(PIK3CD):c.295C>T (p.Leu99=)
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|
NM_005026.5(PIK3CD):c.2964G>A (p.Glu988=)
|
rs1406173891
|
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|
NM_005026.5(PIK3CD):c.2997+17A>G
|
rs1196117386
|
|
|
NM_005026.5(PIK3CD):c.2997+4T>C
|
rs1649271518
|
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|
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=)
|
rs1463951620
|
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|
NM_005026.5(PIK3CD):c.2998-19C>A
|
|
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|
NM_005026.5(PIK3CD):c.2998-19del
|
rs777173368
|
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|
NM_005026.5(PIK3CD):c.2998-8G>T
|
rs546505883
|
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|
NM_005026.5(PIK3CD):c.3001T>A (p.Ser1001Thr)
|
rs2101042359
|
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|
NM_005026.5(PIK3CD):c.300C>A (p.Arg100=)
|
rs2100842031
|
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NM_005026.5(PIK3CD):c.3015G>A (p.Gly1005=)
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|
NM_005026.5(PIK3CD):c.3021A>C (p.Thr1007=)
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NM_005026.5(PIK3CD):c.3025G>A (p.Glu1009Lys)
|
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|
NM_005026.5(PIK3CD):c.3030G>A (p.Glu1010=)
|
rs2101042594
|
|
|
NM_005026.5(PIK3CD):c.3046C>T (p.Arg1016Ter)
|
rs1649753771
|
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|
NM_005026.5(PIK3CD):c.3048A>G (p.Arg1016=)
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|
NM_005026.5(PIK3CD):c.3057T>A (p.Phe1019Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
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|
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly)
|
rs1064795762
|
|
|
NM_005026.5(PIK3CD):c.307G>A (p.Ala103Thr)
|
|
|
|
NM_005026.5(PIK3CD):c.3096C>T (p.Asn1032=)
|
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|
NM_005026.5(PIK3CD):c.30A>C (p.Glu10Asp)
|
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|
|
NM_005026.5(PIK3CD):c.3109_3111del (p.Asn1037del)
|
|
|
|
NM_005026.5(PIK3CD):c.310C>T (p.Arg104Cys)
|
|
|
|
NM_005026.5(PIK3CD):c.3111C>T (p.Asn1037=)
|
|
|
|
NM_005026.5(PIK3CD):c.3112G>A (p.Val1038Met)
|
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|
|
NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys)
|
rs1205317546
|
|
|
NM_005026.5(PIK3CD):c.337A>G (p.Ile113Val)
|
rs756298807
|
|
|
NM_005026.5(PIK3CD):c.342C>G (p.Asn114Lys)
|
|
|
|
NM_005026.5(PIK3CD):c.360C>G (p.Leu120=)
|
|
|
|
NM_005026.5(PIK3CD):c.364G>A (p.Gly122Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.370+11C>G
|
rs374244384
|
|
|
NM_005026.5(PIK3CD):c.370+11C>T
|
rs374244384
|
|
|
NM_005026.5(PIK3CD):c.370+12G>A
|
rs377356205
|
|
|
NM_005026.5(PIK3CD):c.370+12G>C
|
rs377356205
|
|
|
NM_005026.5(PIK3CD):c.371-10C>A
|
|
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|
NM_005026.5(PIK3CD):c.371-16C>A
|
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|
NM_005026.5(PIK3CD):c.371-18G>C
|
rs1647322437
|
|
|
NM_005026.5(PIK3CD):c.371-5C>G
|
rs149617980
|
|
|
NM_005026.5(PIK3CD):c.371-7C>A
|
|
|
|
NM_005026.5(PIK3CD):c.371-8C>T
|
rs780672219
|
|
|
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)
|
|
|
|
NM_005026.5(PIK3CD):c.372C>A (p.Gly124=)
|
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|
|
NM_005026.5(PIK3CD):c.372C>T (p.Gly124=)
|
|
|
|
NM_005026.5(PIK3CD):c.378C>T (p.His126=)
|
|
|
|
NM_005026.5(PIK3CD):c.396C>T (p.Cys132=)
|
|
|
|
NM_005026.5(PIK3CD):c.411C>T (p.Asn137=)
|
rs2100845487
|
|
|
NM_005026.5(PIK3CD):c.414C>T (p.Asp138=)
|
rs759769097
|
|
|
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)
|
|
|
|
NM_005026.5(PIK3CD):c.41A>C (p.Lys14Thr)
|
rs1647002482
|
|
|
NM_005026.5(PIK3CD):c.441C>T (p.Cys147=)
|
|
|
|
NM_005026.5(PIK3CD):c.447G>A (p.Glu149=)
|
rs944091166
|
|
|
NM_005026.5(PIK3CD):c.454G>A (p.Ala152Thr)
|
|
|
|
NM_005026.5(PIK3CD):c.461G>A (p.Arg154Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.494_512del (p.Tyr165fs)
|
|
|
|
NM_005026.5(PIK3CD):c.504C>T (p.Pro168=)
|
|
|
|
NM_005026.5(PIK3CD):c.511C>T (p.Leu171=)
|
|
|
|
NM_005026.5(PIK3CD):c.518C>A (p.Pro173His)
|
|
|
|
NM_005026.5(PIK3CD):c.524C>T (p.Ala175Val)
|
|
|
|
NM_005026.5(PIK3CD):c.537G>C (p.Gly179=)
|
|
|
|
NM_005026.5(PIK3CD):c.537G>T (p.Gly179=)
|
rs1274566720
|
|
|
NM_005026.5(PIK3CD):c.538C>T (p.Pro180Ser)
|
|
|
|
NM_005026.5(PIK3CD):c.540T>C (p.Pro180=)
|
|
|
|
NM_005026.5(PIK3CD):c.550C>T (p.Arg184Trp)
|
rs1250682190
|
|
|
NM_005026.5(PIK3CD):c.551G>A (p.Arg184Gln)
|
|
|
|
NM_005026.5(PIK3CD):c.579C>T (p.Asn193=)
|
rs772893560
|
|
|
NM_005026.5(PIK3CD):c.592G>A (p.Gly198Ser)
|
rs1647371834
|
|
|
NM_005026.5(PIK3CD):c.597C>T (p.Ser199=)
|
|
|
|
NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu)
|
rs1257745660
|
|
|
NM_005026.5(PIK3CD):c.600+12C>T
|
|
|
|
NM_005026.5(PIK3CD):c.601-3C>T
|
rs2100855814
|
|
|
NM_005026.5(PIK3CD):c.612C>T (p.Thr204=)
|
|
|
|
NM_005026.5(PIK3CD):c.625A>G (p.Thr209Ala)
|
|
|
|
NM_005026.5(PIK3CD):c.639G>A (p.Pro213=)
|
rs374739511
|
|
|
NM_005026.5(PIK3CD):c.639G>T (p.Pro213=)
|
|
|
|
NM_005026.5(PIK3CD):c.641T>C (p.Leu214Pro)
|
rs1647468905
|
|
|
NM_005026.5(PIK3CD):c.644C>T (p.Ala215Val)
|
|
|
|
NM_005026.5(PIK3CD):c.645G>T (p.Ala215=)
|
rs748293821
|
|
|
NM_005026.5(PIK3CD):c.648G>C (p.Leu216=)
|
|
|
|
NM_005026.5(PIK3CD):c.657T>C (p.Cys219=)
|
|
|
|
NM_005026.5(PIK3CD):c.664C>T (p.Arg222Trp)
|
rs772233114
|
|
|
NM_005026.5(PIK3CD):c.665G>A (p.Arg222Gln)
|
rs1216060233
|
|
|
NM_005026.5(PIK3CD):c.684C>T (p.Phe228=)
|
|
|
|
NM_005026.5(PIK3CD):c.693G>A (p.Pro231=)
|
|
|
|
NM_005026.5(PIK3CD):c.695T>C (p.Leu232Pro)
|
|
|
|
NM_005026.5(PIK3CD):c.699G>A (p.Val233=)
|
rs1160091643
|
|
|
NM_005026.5(PIK3CD):c.69C>T (p.Asp23=)
|
|
|
|
NM_005026.5(PIK3CD):c.6C>T (p.Pro2=)
|
rs781015405
|
|
|
NM_005026.5(PIK3CD):c.711A>G (p.Glu237=)
|
|
|
|
NM_005026.5(PIK3CD):c.718A>T (p.Thr240Ser)
|
rs1647485551
|
|
|
NM_005026.5(PIK3CD):c.719C>T (p.Thr240Met)
|
|
|
|
NM_005026.5(PIK3CD):c.733G>A (p.Gly245Ser)
|
rs201035266
|
|
|
NM_005026.5(PIK3CD):c.753T>C (p.Tyr251=)
|
|
|
|
NM_005026.5(PIK3CD):c.759C>T (p.Ser253=)
|
|
|
|
NM_005026.5(PIK3CD):c.75G>C (p.Leu25=)
|
|
|
|
NM_005026.5(PIK3CD):c.761A>T (p.Tyr254Phe)
|
|
|
|
NM_005026.5(PIK3CD):c.767dup (p.Cys257fs)
|
|
|
|
NM_005026.5(PIK3CD):c.76C>T (p.Leu26=)
|
rs2100769556
|
|
|
NM_005026.5(PIK3CD):c.780+16C>G
|
rs1257188196
|
|
|
NM_005026.5(PIK3CD):c.780+6G>T
|
|
|
|
NM_005026.5(PIK3CD):c.780+7C>T
|
|
|
|
NM_005026.5(PIK3CD):c.780+9G>T
|
|
|
|
NM_005026.5(PIK3CD):c.781-20C>T
|
|
|
|
NM_005026.5(PIK3CD):c.781-8del
|
rs2100866754
|
|
|
NM_005026.5(PIK3CD):c.784A>G (p.Ile262Val)
|
|
|
|
NM_005026.5(PIK3CD):c.799C>T (p.His267Tyr)
|
rs1570363781
|
|
|
NM_005026.5(PIK3CD):c.800A>G (p.His267Arg)
|
|
|
|
NM_005026.5(PIK3CD):c.809T>G (p.Leu270Trp)
|
rs1647584874
|
|
|
NM_005026.5(PIK3CD):c.813C>T (p.Thr271=)
|
|
|
|
NM_005026.5(PIK3CD):c.817C>T (p.His273Tyr)
|
rs1647586090
|
|
|
NM_005026.5(PIK3CD):c.819C>T (p.His273=)
|
|
|
|
NM_005026.5(PIK3CD):c.842C>T (p.Ser281Phe)
|
|
|
|
NM_005026.5(PIK3CD):c.84A>G (p.Thr28=)
|
rs2100769586
|
|
|
NM_005026.5(PIK3CD):c.850G>A (p.Ala284Thr)
|
|
|
|
NM_005026.5(PIK3CD):c.856C>A (p.Arg286=)
|
|
|
|
NM_005026.5(PIK3CD):c.856C>T (p.Arg286Trp)
|
|
|
|
NM_005026.5(PIK3CD):c.870C>T (p.Ser290=)
|
rs138485916
|
|
|
NM_005026.5(PIK3CD):c.875C>T (p.Pro292Leu)
|
|
|
|
NM_005026.5(PIK3CD):c.878C>T (p.Ala293Val)
|
rs765061150
|
|
|
NM_005026.5(PIK3CD):c.87G>C (p.Gly29=)
|
|
|
|
NM_005026.5(PIK3CD):c.892A>G (p.Lys298Glu)
|
|
|
|
NM_005026.5(PIK3CD):c.905A>G (p.Lys302Arg)
|
|
|
|
NM_005026.5(PIK3CD):c.906A>G (p.Lys302=)
|
rs2100868848
|
|
|
NM_005026.5(PIK3CD):c.916A>G (p.Ile306Val)
|
rs2100868986
|
|
|
NM_005026.5(PIK3CD):c.923C>A (p.Ala308Glu)
|
|
|
|
NM_005026.5(PIK3CD):c.924G>A (p.Ala308=)
|
|
|
|
NM_005026.5(PIK3CD):c.924G>T (p.Ala308=)
|
rs200639471
|
|
|
NM_005026.5(PIK3CD):c.930+17C>T
|
|
|
|
NM_005026.5(PIK3CD):c.930+19C>T
|
|
|
|
NM_005026.5(PIK3CD):c.930+9G>A
|
|
|
|
NM_005026.5(PIK3CD):c.931-9G>A
|
|
|
|
NM_005026.5(PIK3CD):c.936C>T (p.Ser312=)
|
|
|
|
NM_005026.5(PIK3CD):c.938C>T (p.Ser313Phe)
|
rs746649091
|
|
|
NM_005026.5(PIK3CD):c.940G>T (p.Val314Leu)
|
rs770390674
|
|
|
NM_005026.5(PIK3CD):c.945C>T (p.Ser315=)
|
|
|
|
NM_005026.5(PIK3CD):c.953C>T (p.Ser318Phe)
|
|
|
|
NM_005026.5(PIK3CD):c.965C>T (p.Pro322Leu)
|
rs758304879
|
|
|
NM_005026.5(PIK3CD):c.966G>A (p.Pro322=)
|
rs769665281
|
|
|
NM_005026.5(PIK3CD):c.966G>T (p.Pro322=)
|
rs769665281
|
|
|
NM_005026.5(PIK3CD):c.969C>T (p.Phe323=)
|
|
|
|
NM_005026.5(PIK3CD):c.970C>T (p.Arg324Cys)
|
rs762697236
|
|
|
NM_005026.5(PIK3CD):c.971G>T (p.Arg324Leu)
|
rs773473376
|
|
|
NM_005026.5(PIK3CD):c.973A>G (p.Ile325Val)
|
|
|
|
NM_005026.5(PIK3CD):c.982A>G (p.Ile328Val)
|
|
|
|
NM_005026.5(PIK3CD):c.987G>T (p.Gln329His)
|
|
|
|
NM_005026.5(PIK3CD):c.99C>T (p.Asn33=)
|
|
|
|
NM_181523.3(PIK3R1):c.*1del (p.Ter725=)
|
rs1747800027
|
|
|
NM_181523.3(PIK3R1):c.1017G>C (p.Ser339=)
|
rs781406681
|
|
|
NM_181523.3(PIK3R1):c.1019+16C>G
|
|
|
|
NM_181523.3(PIK3R1):c.1019+19C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1019+5_1019+7del
|
|
|
|
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
|
|
|
|
NM_181523.3(PIK3R1):c.1029G>A (p.Val343=)
|
rs1747485112
|
|
|
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)
|
|
|
|
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala)
|
rs1017086766
|
|
|
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
|
|
|
|
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)
|
|
|
|
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
|
|
|
|
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.1118+11del
|
|
|
|
NM_181523.3(PIK3R1):c.1119-13A>T
|
|
|
|
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro)
|
rs2111964134
|
|
|
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)
|
|
|
|
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)
|
|
|
|
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)
|
|
|
|
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val)
|
|
|
|
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=)
|
rs1747501345
|
|
|
NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met)
|
|
|
|
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile)
|
rs1001616209
|
|
|
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe)
|
rs1001616209
|
|
|
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr)
|
rs188617536
|
|
|
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.1299+4A>G
|
|
|
|
NM_181523.3(PIK3R1):c.1299+9_1299+19del
|
|
|
|
NM_181523.3(PIK3R1):c.1300-10A>C
|
rs377666209
|
|
|
NM_181523.3(PIK3R1):c.1300-13T>G
|
|
|
|
NM_181523.3(PIK3R1):c.1300-15T>A
|
rs750356306
|
|
|
NM_181523.3(PIK3R1):c.1300-15T>C
|
|
|
|
NM_181523.3(PIK3R1):c.1300-1G>C
|
rs1554051033
|
|
|
NM_181523.3(PIK3R1):c.1300-2A>G
|
rs1403833564
|
|
|
NM_181523.3(PIK3R1):c.1300-5_1320del
|
rs2112261986
|
|
|
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
|
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs)
|
rs1289537429
|
|
|
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)
|
rs1057519838
|
|
|
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=)
|
rs754454562
|
|
|
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp)
|
rs747844946
|
|
|
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
|
|
|
|
NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=)
|
|
|
|
NM_181523.3(PIK3R1):c.1425+11T>A
|
|
|
|
NM_181523.3(PIK3R1):c.1425+12A>G
|
rs370702392
|
|
|
NM_181523.3(PIK3R1):c.1425+19T>C
|
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>T
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+2T>A
|
rs1554051075
|
|
|
NM_181523.3(PIK3R1):c.1425+2T>G
|
rs1554051075
|
|
|
NM_181523.3(PIK3R1):c.1425+2_1425+3del
|
rs1554051067
|
|
|
NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=)
|
|
|
|
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)
|
rs1747587410
|
|
|
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=)
|
|
|
|
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)
|
rs765178503
|
|
|
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=)
|
rs1483544920
|
|
|
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=)
|
|
|
|
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)
|
|
|
|
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His)
|
rs2112270035
|
|
|
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro)
|
|
|
|
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg)
|
rs1131691859
|
|
|
NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=)
|
rs2112270247
|
|
|
NM_181523.3(PIK3R1):c.1568+10_1568+18del
|
rs1747596001
|
|
|
NM_181523.3(PIK3R1):c.1568+10dup
|
rs2112270441
|
|
|
NM_181523.3(PIK3R1):c.1568+13C>G
|
rs779251252
|
|
|
NM_181523.3(PIK3R1):c.1568+4G>C
|
|
|
|
NM_181523.3(PIK3R1):c.1569-14T>C
|
rs2112273923
|
|
|
NM_181523.3(PIK3R1):c.1569-3C>T
|
rs1747637758
|
|
|
NM_181523.3(PIK3R1):c.1569-6C>T
|
|
|
|
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)
|
|
|
|
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys)
|
|
|
|
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)
|
|
|
|
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=)
|
rs1227172617
|
|
|
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=)
|
rs200936785
|
|
|
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln)
|
rs2112275807
|
|
|
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=)
|
rs1747643900
|
|
|
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)
|
rs773686816
|
|
|
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=)
|
|
|
|
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=)
|
rs1580265568
|
|
|
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
|
|
|
|
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
|
rs1580173662
|
|
|
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)
|
rs1561299903
|
|
|
NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=)
|
|
|
|
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=)
|
rs149090706
|
|
|
NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=)
|
rs149090706
|
|
|
NM_181523.3(PIK3R1):c.1745+14A>G
|
rs1321466058
|
|
|
NM_181523.3(PIK3R1):c.1745+18A>G
|
|
|
|
NM_181523.3(PIK3R1):c.1745+5G>A
|
rs1747649223
|
|
|
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.1746-9G>C
|
|
|
|
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=)
|
rs1349813143
|
|
|
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.1814+6T>G
|
|
|
|
NM_181523.3(PIK3R1):c.1814+8G>T
|
|
|
|
NM_181523.3(PIK3R1):c.1815-10G>A
|
rs2112282588
|
|
|
NM_181523.3(PIK3R1):c.1815-12C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1815-17_1815-16del
|
|
|
|
NM_181523.3(PIK3R1):c.1815-6_1815-3del
|
rs1430970566
|
|
|
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
|
|
|
|
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)
|
rs1747703922
|
|
|
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile)
|
rs1744294827
|
|
|
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
|
|
|
|
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys)
|
rs1376376979
|
|
|
NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=)
|
|
|
|
NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=)
|
|
|
|
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=)
|
rs1580267244
|
|
|
NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=)
|
|
|
|
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)
|
rs1747708267
|
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
|
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
|
|
|
|
NM_181523.3(PIK3R1):c.1985+11C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1985+19C>A
|
|
|
|
NM_181523.3(PIK3R1):c.1985+19C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1985+3A>G
|
|
|
|
NM_181523.3(PIK3R1):c.1985+4T>G
|
|
|
|
NM_181523.3(PIK3R1):c.1985+7A>G
|
rs781079021
|
|
|
NM_181523.3(PIK3R1):c.1986-11C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1986-17T>C
|
rs1254104173
|
|
|
NM_181523.3(PIK3R1):c.1986-19T>C
|
rs2112289925
|
|
|
NM_181523.3(PIK3R1):c.1986-31_1986-19del
|
rs2112289847
|
|
|
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met)
|
rs1747782919
|
|
|
NM_181523.3(PIK3R1):c.198G>A (p.Arg66=)
|
|
|
|
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
|
|
|
|
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)
|
|
|
|
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg)
|
rs1747784886
|
|
|
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu)
|
rs1744296159
|
|
|
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs)
|
rs1747785071
|
|
|
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val)
|
rs764638492
|
|
|
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr)
|
rs1747786981
|
|
|
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)
|
rs755043940
|
|
|
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=)
|
rs1747788048
|
|
|
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His)
|
rs2112291384
|
|
|
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)
|
|
|
|
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu)
|
rs910474484
|
|
|
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=)
|
rs149852476
|
|
|
NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=)
|
|
|
|
NM_181523.3(PIK3R1):c.2136C>A (p.Val712=)
|
rs2112293555
|
|
|
NM_181523.3(PIK3R1):c.213A>C (p.Gly71=)
|
|
|
|
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
|
|
|
|
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn)
|
rs1747798069
|
|
|
NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=)
|
|
|
|
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter)
|
rs764019194
|
|
|
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)
|
|
|
|
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)
|
rs772928652
|
|
|
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)
|
rs1744300386
|
|
|
NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)
|
|
|
|
NM_181523.3(PIK3R1):c.264G>A (p.Lys88=)
|
|
|
|
NM_181523.3(PIK3R1):c.267C>T (p.Pro89=)
|
|
|
|
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
|
|
|
|
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln)
|
rs765266397
|
|
|
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.30G>A (p.Ala10=)
|
|
|
|
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)
|
|
|
|
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
|
|
|
|
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
|
|
|
|
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)
|
rs575423347
|
|
|
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA
|
rs2111966143
|
|
|
NM_181523.3(PIK3R1):c.334+18G>C
|
|
|
|
NM_181523.3(PIK3R1):c.334+4_334+9del
|
rs1219959578
|
|
|
NM_181523.3(PIK3R1):c.334+7A>G
|
|
|
|
NM_181523.3(PIK3R1):c.335-15T>G
|
|
|
|
NM_181523.3(PIK3R1):c.335-3C>T
|
|
|
|
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)
|
|
|
|
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val)
|
rs763574306
|
|
|
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe)
|
rs763574306
|
|
|
NM_181523.3(PIK3R1):c.351T>C (p.Asp117=)
|
rs2112164402
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NM_181523.3(PIK3R1):c.369C>A (p.Ala123=)
|
rs2112164504
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NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
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|
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NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)
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NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)
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NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)
|
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NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe)
|
rs2112164735
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NM_181523.3(PIK3R1):c.406G>A (p.Val136Met)
|
rs539374043
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NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu)
|
rs539374043
|
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NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
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NM_181523.3(PIK3R1):c.414C>A (p.Ala138=)
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NM_181523.3(PIK3R1):c.427+6C>G
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NM_181523.3(PIK3R1):c.428-6T>C
|
rs1746468268
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NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter)
|
rs1339790364
|
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NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
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|
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NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
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NM_181523.3(PIK3R1):c.468C>T (p.Ser156=)
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NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu)
|
rs755300178
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NM_181523.3(PIK3R1):c.502+6T>C
|
rs2112167267
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NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
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|
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NM_181523.3(PIK3R1):c.503-5C>T
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NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
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NM_181523.3(PIK3R1):c.510C>G (p.Pro170=)
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NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro)
|
rs1440086188
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NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)
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NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)
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NM_181523.3(PIK3R1):c.531C>T (p.Ile177=)
|
rs559414629
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NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn)
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NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr)
|
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NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)
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NM_181523.3(PIK3R1):c.549T>C (p.Ala183=)
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NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
|
rs1264292969
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NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe)
|
rs1237204595
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NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile)
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NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr)
|
rs781181630
|
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NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
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NM_181523.3(PIK3R1):c.603C>T (p.Ala201=)
|
rs780278854
|
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NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)
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NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
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NM_181523.3(PIK3R1):c.634+11T>G
|
rs1287288917
|
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NM_181523.3(PIK3R1):c.634+82A>G
|
|
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NM_181523.3(PIK3R1):c.634+8T>C
|
rs368138177
|
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NM_181523.3(PIK3R1):c.635-10A>T
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NM_181523.3(PIK3R1):c.635-4G>A
|
rs1262336304
|
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NM_181523.3(PIK3R1):c.635-7C>G
|
rs1561289181
|
|
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NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
|
|
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NM_181523.3(PIK3R1):c.648C>T (p.Ser216=)
|
rs575150982
|
|
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NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
|
rs540361957
|
|
|
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
|
|
|
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NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)
|
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NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
|
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NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter)
|
rs1746792277
|
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NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val)
|
rs1746792752
|
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NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
|
|
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NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)
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NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)
|
rs201598843
|
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NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)
|
|
|
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NM_181523.3(PIK3R1):c.701A>G (p.His234Arg)
|
rs746719882
|
|
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NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)
|
|
|
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NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys)
|
rs141981005
|
|
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NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)
|
rs1746794995
|
|
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NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)
|
|
|
|
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn)
|
rs2112195478
|
|
|
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)
|
|
|
|
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=)
|
rs2112195690
|
|
|
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His)
|
rs1746797117
|
|
|
NM_181523.3(PIK3R1):c.785G>C (p.Arg262Thr)
|
rs2112195809
|
|
|
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn)
|
rs2112195905
|
|
|
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
|
|
|
|
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe)
|
rs2112196013
|
|
|
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.836+14G>A
|
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|
|
NM_181523.3(PIK3R1):c.836+8A>G
|
rs1746799191
|
|
|
NM_181523.3(PIK3R1):c.837-13C>A
|
|
|
|
NM_181523.3(PIK3R1):c.837-13C>T
|
rs3730085
|
|
|
NM_181523.3(PIK3R1):c.837-7C>T
|
rs571365105
|
|
|
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser)
|
rs2112196978
|
|
|
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.858C>T (p.Leu286=)
|
|
|
|
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=)
|
rs2111963982
|
|
|
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)
|
rs397509384
|
|
|
NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)
|
rs367669362
|
|
|
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)
|
|
|
|
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.916+15G>T
|
|
|
|
NM_181523.3(PIK3R1):c.916+18T>G
|
rs2112197494
|
|
|
NM_181523.3(PIK3R1):c.916+2T>C
|
|
|
|
NM_181523.3(PIK3R1):c.916+9T>G
|
|
|
|
NM_181523.3(PIK3R1):c.917-14_917-9del
|
rs2112244267
|
|
|
NM_181523.3(PIK3R1):c.917-5T>A
|
|
|
|
NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)
|
|
|
|
NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)
|
|
|
|
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val)
|
|
|
|
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser)
|
rs1747439245
|
|
|
NM_181523.3(PIK3R1):c.965del (p.Met322fs)
|
rs1580260232
|
|
|
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del)
|
rs1747439770
|
|
|
NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)
|
|
|
|
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser)
|
rs1452312514
|
|
|
NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile)
|
rs3730089
|
|