NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
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.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
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.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
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.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
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.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
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.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
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.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
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.277G>A (p.Ala93Thr)
|
rs142481170
|
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.955+14C>A
|
rs756921041
|
0.00003
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
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.1881C>T (p.Ser627=)
|
rs779328815
|
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.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
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.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
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.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
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.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.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.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
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.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.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
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.2712G>A (p.Val904=)
|
rs886043848
|
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.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
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.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
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.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
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.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.1076-15G>C
|
rs370414054
|
|
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.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
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.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.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)
|
rs2143866454
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
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>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.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)
|
rs1598581682
|
|
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.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
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.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
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.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
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.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.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
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.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
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>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
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.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
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.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
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.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
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.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
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.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
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.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.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
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.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|