NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)
|
rs141200414
|
0.00028
|
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg)
|
rs143068130
|
0.00021
|
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.854T>C (p.Met285Thr)
|
rs557471275
|
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.58G>A (p.Val20Ile)
|
rs143116020
|
0.00014
|
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys)
|
rs545136223
|
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_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
|
rs141981005
|
0.00011
|
NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu)
|
rs200369205
|
0.00009
|
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu)
|
rs369430343
|
0.00008
|
NM_005026.5(PIK3CD):c.1501G>A (p.Val501Met)
|
rs999028906
|
0.00007
|
NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)
|
rs571644641
|
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.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_005026.5(PIK3CD):c.17A>G (p.Asp6Gly)
|
rs749032083
|
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.1070C>T (p.Thr357Met)
|
rs775700162
|
0.00004
|
NM_005026.5(PIK3CD):c.1339+3C>T
|
rs763675477
|
0.00004
|
NM_005026.5(PIK3CD):c.1534C>T (p.Arg512Trp)
|
rs765797019
|
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.1969G>A (p.Val657Met)
|
rs756589761
|
0.00004
|
NM_005026.5(PIK3CD):c.2347+6G>A
|
rs368607726
|
0.00004
|
NM_005026.5(PIK3CD):c.3015G>T (p.Gly1005=)
|
rs776778083
|
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.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.562C>T (p.Arg188Cys)
|
rs547196342
|
0.00004
|
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile)
|
rs747881833
|
0.00004
|
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr)
|
rs771365361
|
0.00004
|
NM_005026.5(PIK3CD):c.1021-3C>T
|
rs933446799
|
0.00003
|
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)
|
rs758253493
|
0.00003
|
NM_005026.5(PIK3CD):c.1607A>G (p.His536Arg)
|
rs1198694875
|
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.323G>T (p.Arg108Leu)
|
rs765031777
|
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_181523.3(PIK3R1):c.29C>T (p.Ala10Val)
|
rs767837787
|
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.1496A>C (p.Glu499Ala)
|
rs922490667
|
0.00002
|
NM_005026.5(PIK3CD):c.1642C>T (p.Arg548Trp)
|
rs780269932
|
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.557C>T (p.Pro186Leu)
|
rs779715026
|
0.00002
|
NM_005026.5(PIK3CD):c.62T>C (p.Val21Ala)
|
rs770275584
|
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.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.1092C>A (p.Ser364Arg)
|
rs774630166
|
0.00001
|
NM_005026.5(PIK3CD):c.1271T>C (p.Met424Thr)
|
rs755144547
|
0.00001
|
NM_005026.5(PIK3CD):c.141+3A>G
|
rs1465930805
|
0.00001
|
NM_005026.5(PIK3CD):c.1439C>T (p.Pro480Leu)
|
rs766145180
|
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.155G>A (p.Arg52His)
|
rs772851443
|
0.00001
|
NM_005026.5(PIK3CD):c.1587C>A (p.Asp529Glu)
|
rs1332713912
|
0.00001
|
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe)
|
rs1302155596
|
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.1922G>A (p.Arg641His)
|
rs761809287
|
0.00001
|
NM_005026.5(PIK3CD):c.1955+5C>T
|
rs201785210
|
0.00001
|
NM_005026.5(PIK3CD):c.2055+5G>A
|
rs1648720883
|
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.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.2364G>C (p.Met788Ile)
|
rs1247300105
|
0.00001
|
NM_005026.5(PIK3CD):c.2488C>T (p.Arg830Cys)
|
rs554743340
|
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.2830C>G (p.Gln944Glu)
|
rs757964104
|
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.304G>A (p.Val102Met)
|
rs1647296006
|
0.00001
|
NM_005026.5(PIK3CD):c.328A>C (p.Lys110Gln)
|
rs1449263530
|
0.00001
|
NM_005026.5(PIK3CD):c.397G>A (p.Asp133Asn)
|
rs754053878
|
0.00001
|
NM_005026.5(PIK3CD):c.401C>T (p.Pro134Leu)
|
rs1351397800
|
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.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.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.976G>A (p.Glu326Lys)
|
rs148703447
|
0.00001
|
NM_181523.3(PIK3R1):c.1019+6G>C
|
rs749016701
|
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.1226G>A (p.Arg409Gln)
|
rs748784250
|
0.00001
|
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=)
|
rs935776281
|
0.00001
|
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val)
|
rs1747710716
|
0.00001
|
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser)
|
rs374119964
|
0.00001
|
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile)
|
rs755953968
|
0.00001
|
NM_181523.3(PIK3R1):c.334+4A>G
|
rs1263122579
|
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.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr)
|
rs765008592
|
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.616A>G (p.Met206Val)
|
rs773185995
|
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.869T>C (p.Ile290Thr)
|
rs759526958
|
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.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.1013G>A (p.Arg338Gln)
|
|
|
NM_005026.5(PIK3CD):c.1021-14G>A
|
|
|
NM_005026.5(PIK3CD):c.1021-7T>A
|
|
|
NM_005026.5(PIK3CD):c.1027G>T (p.Val343Leu)
|
rs2100907022
|
|
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.1072G>C (p.Val358Leu)
|
rs763569477
|
|
NM_005026.5(PIK3CD):c.1085A>T (p.Glu362Val)
|
rs1647979472
|
|
NM_005026.5(PIK3CD):c.1099_1100delinsCT (p.Ser367Leu)
|
|
|
NM_005026.5(PIK3CD):c.1100C>T (p.Ser367Leu)
|
|
|
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.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>T
|
|
|
NM_005026.5(PIK3CD):c.1272G>T (p.Met424Ile)
|
|
|
NM_005026.5(PIK3CD):c.1298A>G (p.Lys433Arg)
|
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NM_005026.5(PIK3CD):c.1299G>C (p.Lys433Asn)
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NM_005026.5(PIK3CD):c.1303G>A (p.Gly435Arg)
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NM_005026.5(PIK3CD):c.1306G>T (p.Glu436Ter)
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NM_005026.5(PIK3CD):c.1310G>A (p.Arg437His)
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NM_005026.5(PIK3CD):c.1331C>T (p.Ser444Phe)
|
rs759238357
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NM_005026.5(PIK3CD):c.1333G>A (p.Val445Ile)
|
rs762320758
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NM_005026.5(PIK3CD):c.1339+4G>A
|
rs751591906
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NM_005026.5(PIK3CD):c.1339+6C>T
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NM_005026.5(PIK3CD):c.1344G>C (p.Glu448Asp)
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NM_005026.5(PIK3CD):c.1353G>C (p.Glu451Asp)
|
rs147088845
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NM_005026.5(PIK3CD):c.1355T>C (p.Leu452Pro)
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|
NM_005026.5(PIK3CD):c.1363C>T (p.Pro455Ser)
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NM_005026.5(PIK3CD):c.1367C>T (p.Thr456Met)
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NM_005026.5(PIK3CD):c.1378C>T (p.Arg460Cys)
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NM_005026.5(PIK3CD):c.1383T>G (p.Ser461Arg)
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NM_005026.5(PIK3CD):c.1432G>A (p.Val478Met)
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rs1648292751
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NM_005026.5(PIK3CD):c.1442A>C (p.His481Pro)
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NM_005026.5(PIK3CD):c.1471-8T>G
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NM_005026.5(PIK3CD):c.1475T>C (p.Leu492Ser)
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NM_005026.5(PIK3CD):c.1478A>C (p.Glu493Ala)
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rs966409603
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NM_005026.5(PIK3CD):c.1478A>G (p.Glu493Gly)
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NM_005026.5(PIK3CD):c.1484G>A (p.Gly495Glu)
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NM_005026.5(PIK3CD):c.1486_1487delinsTT (p.Arg496Leu)
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NM_005026.5(PIK3CD):c.1494C>T (p.Ser498=)
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NM_005026.5(PIK3CD):c.1504C>T (p.His502Tyr)
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NM_005026.5(PIK3CD):c.1521+5G>A
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NM_005026.5(PIK3CD):c.1549C>T (p.Arg517Trp)
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NM_005026.5(PIK3CD):c.1550G>A (p.Arg517Gln)
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NM_005026.5(PIK3CD):c.1552C>T (p.Arg518Trp)
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NM_005026.5(PIK3CD):c.1577A>G (p.His526Arg)
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NM_005026.5(PIK3CD):c.1618G>C (p.Glu540Gln)
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NM_005026.5(PIK3CD):c.1628C>T (p.Pro543Leu)
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rs2100955722
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NM_005026.5(PIK3CD):c.1634C>T (p.Ala545Val)
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rs1220175470
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NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)
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NM_005026.5(PIK3CD):c.1643G>A (p.Arg548Gln)
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rs1297091785
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NM_005026.5(PIK3CD):c.164A>G (p.Tyr55Cys)
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NM_005026.5(PIK3CD):c.1673A>G (p.His558Arg)
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rs1648521215
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NM_005026.5(PIK3CD):c.1687C>T (p.Gln563Ter)
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NM_005026.5(PIK3CD):c.1690-3C>T
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NM_005026.5(PIK3CD):c.1699C>G (p.Leu567Val)
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NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs)
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rs2100840815
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NM_005026.5(PIK3CD):c.1727T>C (p.Val576Ala)
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NM_005026.5(PIK3CD):c.1738C>G (p.Leu580Val)
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NM_005026.5(PIK3CD):c.1775T>C (p.Val592Ala)
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rs776226369
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NM_005026.5(PIK3CD):c.1789A>G (p.Ile597Val)
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rs2100963194
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NM_005026.5(PIK3CD):c.1796C>T (p.Ser599Leu)
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NM_005026.5(PIK3CD):c.17A>C (p.Asp6Ala)
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rs749032083
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NM_005026.5(PIK3CD):c.1801C>T (p.Arg601Trp)
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rs763994711
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NM_005026.5(PIK3CD):c.1816G>A (p.Asp606Asn)
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NM_005026.5(PIK3CD):c.1846G>A (p.Val616Met)
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rs1648646851
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NM_005026.5(PIK3CD):c.1915G>A (p.Ala639Thr)
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NM_005026.5(PIK3CD):c.1921C>T (p.Arg641Cys)
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NM_005026.5(PIK3CD):c.1954C>T (p.Arg652Cys)
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NM_005026.5(PIK3CD):c.195C>T (p.Pro65=)
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NM_005026.5(PIK3CD):c.1993G>A (p.Gly665Ser)
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NM_005026.5(PIK3CD):c.2041G>A (p.Val681Met)
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NM_005026.5(PIK3CD):c.2059G>A (p.Glu687Lys)
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NM_005026.5(PIK3CD):c.2095G>A (p.Val699Ile)
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rs751020974
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NM_005026.5(PIK3CD):c.210C>T (p.Phe70=)
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NM_005026.5(PIK3CD):c.2119C>A (p.Pro707Thr)
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NM_005026.5(PIK3CD):c.2164G>T (p.Glu722Ter)
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NM_005026.5(PIK3CD):c.221A>G (p.Asn74Ser)
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rs1043386158
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NM_005026.5(PIK3CD):c.2295C>G (p.Asn765Lys)
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NM_005026.5(PIK3CD):c.230C>T (p.Ala77Val)
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NM_005026.5(PIK3CD):c.2348-10G>A
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NM_005026.5(PIK3CD):c.2348-11_2356del
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rs1648840773
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NM_005026.5(PIK3CD):c.2353C>T (p.Arg785Trp)
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NM_005026.5(PIK3CD):c.2362A>G (p.Met788Val)
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rs1648845956
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NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs)
|
rs1553168726
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NM_005026.5(PIK3CD):c.2395G>A (p.Val799Ile)
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NM_005026.5(PIK3CD):c.2419G>A (p.Asp807Asn)
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rs2100982447
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NM_005026.5(PIK3CD):c.2462G>A (p.Arg821His)
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NM_005026.5(PIK3CD):c.2481G>T (p.Val827=)
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NM_005026.5(PIK3CD):c.2503G>A (p.Ala835Thr)
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rs1648966090
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NM_005026.5(PIK3CD):c.2545G>A (p.Ala849Thr)
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NM_005026.5(PIK3CD):c.2558A>T (p.Asp853Val)
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NM_005026.5(PIK3CD):c.2597A>T (p.Glu866Val)
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NM_005026.5(PIK3CD):c.2599G>T (p.Ala867Ser)
|
rs1371422939
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NM_005026.5(PIK3CD):c.2609G>A (p.Arg870Gln)
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NM_005026.5(PIK3CD):c.2698A>G (p.Met900Val)
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rs1553171728
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NM_005026.5(PIK3CD):c.2704C>T (p.Arg902Ter)
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NM_005026.5(PIK3CD):c.2705G>A (p.Arg902Gln)
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rs202142608
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NM_005026.5(PIK3CD):c.2718+5dup
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NM_005026.5(PIK3CD):c.2719-15CTCCC[4]
|
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NM_005026.5(PIK3CD):c.2761A>G (p.Thr921Ala)
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NM_005026.5(PIK3CD):c.2785C>T (p.Arg929Cys)
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rs2101002964
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NM_005026.5(PIK3CD):c.2863C>T (p.Arg955Trp)
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NM_005026.5(PIK3CD):c.2864+3G>A
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NM_005026.5(PIK3CD):c.2865-3C>T
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NM_005026.5(PIK3CD):c.2870G>A (p.Arg957Gln)
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NM_005026.5(PIK3CD):c.2906G>A (p.Arg969His)
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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)
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rs975282953
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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.3001T>A (p.Ser1001Thr)
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rs2101042359
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NM_005026.5(PIK3CD):c.3025G>A (p.Glu1009Lys)
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NM_005026.5(PIK3CD):c.3046C>T (p.Arg1016Ter)
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rs1649753771
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NM_005026.5(PIK3CD):c.3057T>A (p.Phe1019Leu)
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NM_005026.5(PIK3CD):c.307G>A (p.Ala103Thr)
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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)
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NM_005026.5(PIK3CD):c.310C>T (p.Arg104Cys)
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NM_005026.5(PIK3CD):c.3112G>A (p.Val1038Met)
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NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys)
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rs1205317546
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NM_005026.5(PIK3CD):c.337A>G (p.Ile113Val)
|
rs756298807
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NM_005026.5(PIK3CD):c.342C>G (p.Asn114Lys)
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NM_005026.5(PIK3CD):c.364G>A (p.Gly122Ser)
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NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)
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NM_005026.5(PIK3CD):c.41A>C (p.Lys14Thr)
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rs1647002482
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NM_005026.5(PIK3CD):c.454G>A (p.Ala152Thr)
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NM_005026.5(PIK3CD):c.461G>A (p.Arg154Gln)
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NM_005026.5(PIK3CD):c.494_512del (p.Tyr165fs)
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NM_005026.5(PIK3CD):c.518C>A (p.Pro173His)
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NM_005026.5(PIK3CD):c.524C>T (p.Ala175Val)
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NM_005026.5(PIK3CD):c.538C>T (p.Pro180Ser)
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NM_005026.5(PIK3CD):c.550C>T (p.Arg184Trp)
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rs1250682190
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NM_005026.5(PIK3CD):c.551G>A (p.Arg184Gln)
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NM_005026.5(PIK3CD):c.592G>A (p.Gly198Ser)
|
rs1647371834
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NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu)
|
rs1257745660
|
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NM_005026.5(PIK3CD):c.601-3C>T
|
rs2100855814
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NM_005026.5(PIK3CD):c.625A>G (p.Thr209Ala)
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|
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NM_005026.5(PIK3CD):c.641T>C (p.Leu214Pro)
|
rs1647468905
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NM_005026.5(PIK3CD):c.644C>T (p.Ala215Val)
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|
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NM_005026.5(PIK3CD):c.664C>T (p.Arg222Trp)
|
rs772233114
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NM_005026.5(PIK3CD):c.665G>A (p.Arg222Gln)
|
rs1216060233
|
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NM_005026.5(PIK3CD):c.695T>C (p.Leu232Pro)
|
|
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NM_005026.5(PIK3CD):c.718A>T (p.Thr240Ser)
|
rs1647485551
|
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NM_005026.5(PIK3CD):c.719C>T (p.Thr240Met)
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|
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NM_005026.5(PIK3CD):c.733G>A (p.Gly245Ser)
|
rs201035266
|
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NM_005026.5(PIK3CD):c.761A>T (p.Tyr254Phe)
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NM_005026.5(PIK3CD):c.767dup (p.Cys257fs)
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NM_005026.5(PIK3CD):c.780+6G>T
|
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NM_005026.5(PIK3CD):c.784A>G (p.Ile262Val)
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NM_005026.5(PIK3CD):c.799C>T (p.His267Tyr)
|
rs1570363781
|
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NM_005026.5(PIK3CD):c.800A>G (p.His267Arg)
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|
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NM_005026.5(PIK3CD):c.809T>G (p.Leu270Trp)
|
rs1647584874
|
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NM_005026.5(PIK3CD):c.842C>T (p.Ser281Phe)
|
|
|
NM_005026.5(PIK3CD):c.850G>A (p.Ala284Thr)
|
|
|
NM_005026.5(PIK3CD):c.856C>A (p.Arg286=)
|
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NM_005026.5(PIK3CD):c.856C>T (p.Arg286Trp)
|
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|
NM_005026.5(PIK3CD):c.875C>T (p.Pro292Leu)
|
|
|
NM_005026.5(PIK3CD):c.878C>T (p.Ala293Val)
|
rs765061150
|
|
NM_005026.5(PIK3CD):c.892A>G (p.Lys298Glu)
|
|
|
NM_005026.5(PIK3CD):c.905A>G (p.Lys302Arg)
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|
NM_005026.5(PIK3CD):c.916A>G (p.Ile306Val)
|
rs2100868986
|
|
NM_005026.5(PIK3CD):c.923C>A (p.Ala308Glu)
|
|
|
NM_005026.5(PIK3CD):c.931-9G>A
|
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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.953C>T (p.Ser318Phe)
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|
|
NM_005026.5(PIK3CD):c.965C>T (p.Pro322Leu)
|
rs758304879
|
|
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_181523.3(PIK3R1):c.*1del (p.Ter725=)
|
rs1747800027
|
|
NM_181523.3(PIK3R1):c.1019+5_1019+7del
|
|
|
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
|
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|
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.1061C>G (p.Thr354Ser)
|
|
|
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
|
|
|
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.1258T>G (p.Leu420Val)
|
|
|
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=)
|
rs1747501345
|
|
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.1319A>G (p.Asp440Gly)
|
|
|
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp)
|
rs747844946
|
|
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
|
|
|
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)
|
rs1747587410
|
|
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)
|
rs765178503
|
|
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
|
|
|
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.1568+4G>C
|
|
|
NM_181523.3(PIK3R1):c.1569-3C>T
|
rs1747637758
|
|
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.1670G>A (p.Arg557Gln)
|
rs2112275807
|
|
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
|
|
|
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
|
|
|
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
|
|
|
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
|
rs1580173662
|
|
NM_181523.3(PIK3R1):c.1745+5G>A
|
rs1747649223
|
|
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
|
|
|
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.1815-12C>T
|
|
|
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
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NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
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NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)
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rs1747703922
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NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile)
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rs1744294827
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NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
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NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys)
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rs1376376979
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NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)
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rs1747708267
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NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
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NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
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NM_181523.3(PIK3R1):c.1985+3A>G
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NM_181523.3(PIK3R1):c.1985+4T>G
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NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met)
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rs1747782919
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NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
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NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg)
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rs1747784886
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NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu)
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rs1744296159
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NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs)
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rs1747785071
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NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val)
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rs764638492
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NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr)
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rs1747786981
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NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)
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rs755043940
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NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His)
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rs2112291384
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NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
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NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
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NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu)
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rs910474484
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NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
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NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn)
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rs1747798069
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NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter)
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rs764019194
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NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
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NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
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NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)
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rs772928652
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NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)
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rs1744300386
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NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
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NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
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NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln)
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rs765266397
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NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
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NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
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NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
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NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)
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rs575423347
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NM_181523.3(PIK3R1):c.334+4_334+9del
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rs1219959578
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NM_181523.3(PIK3R1):c.335-15T>G
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NM_181523.3(PIK3R1):c.335-3C>T
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NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
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NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val)
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rs763574306
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NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe)
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rs763574306
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NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
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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)
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rs2112164735
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NM_181523.3(PIK3R1):c.406G>A (p.Val136Met)
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rs539374043
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NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu)
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rs539374043
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NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
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NM_181523.3(PIK3R1):c.427+6C>G
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NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
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NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
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NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu)
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rs755300178
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NM_181523.3(PIK3R1):c.502+6T>C
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rs2112167267
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NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
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NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
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NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro)
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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.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.554C>T (p.Ala185Val)
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rs1264292969
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NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe)
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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)
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rs781181630
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NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
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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.635-7C>G
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rs1561289181
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NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
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NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
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rs540361957
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NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
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NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
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NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val)
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rs1746792752
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NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
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NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)
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rs201598843
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NM_181523.3(PIK3R1):c.701A>G (p.His234Arg)
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rs746719882
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NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys)
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rs141981005
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NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)
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rs1746794995
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NM_181523.3(PIK3R1):c.736C>A (p.His246Asn)
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rs2112195478
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NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
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NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
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NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn)
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rs2112195905
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NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
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NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe)
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rs2112196013
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NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
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NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
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NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
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NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser)
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rs2112196978
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NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
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NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
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NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
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NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
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NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
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NM_181523.3(PIK3R1):c.916+18T>G
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rs2112197494
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NM_181523.3(PIK3R1):c.917-14_917-9del
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rs2112244267
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NM_181523.3(PIK3R1):c.917-5T>A
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NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
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NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
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NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser)
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rs1747439245
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NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del)
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rs1747439770
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NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser)
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rs1452312514
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