|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
|
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)
|
rs752002666
|
0.00003
|
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
|
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)
|
rs1598582021
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
|
NC_000017.11:g.(?_80107537)_(80113386_?)del
|
|
|
|
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
|
|
|
|
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
|
|
|
|
NM_000152.5(GAA):c.-32-1G>C
|
rs1555598460
|
|
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
|
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
|
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
|
|
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
|
NM_000152.5(GAA):c.1075+2T>A
|
rs2143853890
|
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
|
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)
|
rs755253527
|
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
|
NM_000152.5(GAA):c.1099del (p.Trp367fs)
|
rs1057516785
|
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
|
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
|
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
|
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
|
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
|
NM_000152.5(GAA):c.1130del (p.Gly377fs)
|
rs754134578
|
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
|
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517
|
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
|
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546
|
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
|
NM_000152.5(GAA):c.1194+2T>C
|
rs1057516215
|
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
|
NM_000152.5(GAA):c.1194+5G>A
|
rs2039153749
|
|
|
NM_000152.5(GAA):c.1195-1G>A
|
rs1555600166
|
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
|
NM_000152.5(GAA):c.1195-2A>G
|
rs765360653
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
|
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
|
|
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
|
NM_000152.5(GAA):c.1326+2T>C
|
rs1434761678
|
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
|
NM_000152.5(GAA):c.1437G>A (p.Lys479=)
|
rs796051877
|
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
|
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
|
|
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
|
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
|
|
|
|
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)
|
rs1598581682
|
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
|
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
|
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs)
|
rs2143874754
|
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
|
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
|
|
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
|
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)
|
rs1408164312
|
|
|
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
|
|
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
|
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)
|
rs764670084
|
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
|
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
|
rs781484283
|
|
|
NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
|
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
|
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
|
rs768397968
|
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
|
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
|
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
|
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
|
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
|
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
|
rs28937909
|
|
|
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
|
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
|
|
|
|
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
|
rs1448515860
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
|
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)
|
rs1057518106
|
|
|
NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
|
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
|
rs786204467
|
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
|
NM_000152.5(GAA):c.2040+1del
|
rs1555601662
|
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
|
NM_000152.5(GAA):c.2040G>A (p.Leu680=)
|
rs2039280842
|
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
|
NM_000152.5(GAA):c.2061del (p.Phe687fs)
|
rs1064796706
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
|
NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
|
rs2039289942
|
|
|
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)
|
rs2143896492
|
|
|
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)
|
rs2143896492
|
|
|
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
|
|
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
|
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
|
rs1555601802
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
|
|
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
|
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
|
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
|
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)
|
rs2143925134
|
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
|
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)
|
rs374687883
|
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
|
NM_000152.5(GAA):c.2481+1G>T
|
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
|
NM_000152.5(GAA):c.2617dup (p.Tyr873fs)
|
rs1555603131
|
|
|
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
|
NM_000152.5(GAA):c.2647-1_2648del
|
rs1555603216
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
|
NM_000152.5(GAA):c.2772del (p.Asn925fs)
|
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
|
NM_000152.5(GAA):c.2853del (p.Trp951fs)
|
rs1555603434
|
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
|
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)
|
rs2143827215
|
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
|
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800
|
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
|
NM_000152.5(GAA):c.376del (p.Trp126fs)
|
rs1555598824
|
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
|
NM_000152.5(GAA):c.448dup (p.Ala150fs)
|
rs1555598880
|
|
|
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
|
rs781124934
|
|
|
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del)
|
rs2039044722
|
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
|
NM_000152.5(GAA):c.55del (p.Val19fs)
|
rs1555598544
|
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
|
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
|
rs200210219
|
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
|
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
|
rs1555599637
|
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
|
NM_000152.5(GAA):c.797C>T (p.Pro266Leu)
|
rs1567828977
|
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
|
NM_000152.5(GAA):c.827_845del (p.Ile276fs)
|
rs2143847172
|
|
|
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
|
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
|
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
|
|
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
|
|
|
|
NM_000152.5(GAA):c.935del (p.Leu312fs)
|
|
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
|
NM_000152.5(GAA):c.971dup (p.Ser325fs)
|
rs2143852733
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|