NM_000152.5(GAA):c.2331+20G>A
|
rs2304832
|
0.80041
|
NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000152.5(GAA):c.2332-198A>T
|
rs2304830
|
0.71964
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_000152.5(GAA):c.1327-269A>G
|
rs6565641
|
0.66629
|
NM_000152.5(GAA):c.1551+49C>A
|
rs2304843
|
0.66585
|
NM_000152.5(GAA):c.692+144A>G
|
rs2304847
|
0.65715
|
NM_000152.5(GAA):c.547-39T>G
|
rs12452721
|
0.65696
|
NM_000152.5(GAA):c.547-67C>G
|
rs8069491
|
0.65691
|
NM_000152.5(GAA):c.547-243C>G
|
rs8065426
|
0.65686
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.1438-19G>C
|
rs2304844
|
0.65495
|
NM_000152.5(GAA):c.956-84C>T
|
rs2241887
|
0.65491
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.693-216T>C
|
rs11150844
|
0.65482
|
NM_000152.5(GAA):c.1326+132G>A
|
rs894306
|
0.65478
|
NM_000152.5(GAA):c.1438-220A>G
|
rs2278618
|
0.65457
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000152.5(GAA):c.1438-108G>A
|
rs12944802
|
0.65436
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
NM_000152.5(GAA):c.2800-227C>T
|
rs9890469
|
0.64636
|
NM_000152.5(GAA):c.2189+263G>A
|
rs7221604
|
0.64633
|
NM_000152.5(GAA):c.1754+144C>T
|
rs2304838
|
0.60815
|
NM_000152.5(GAA):c.1636+117del
|
rs199788201
|
0.59100
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_000152.5(GAA):c.1637-185A>G
|
rs12951255
|
0.55461
|
NM_000152.5(GAA):c.2041-64G>A
|
rs2304833
|
0.25700
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
NM_000152.5(GAA):c.*223C>T
|
rs8132
|
0.22255
|
NM_000152.5(GAA):c.546+293G>A
|
rs34746710
|
0.20206
|
NM_000152.5(GAA):c.547-238T>C
|
rs12452263
|
0.20178
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_000152.5(GAA):c.1327-179G>A
|
rs2278620
|
0.19777
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
NM_000152.5(GAA):c.*91G>A
|
rs2229221
|
0.12196
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
NM_000152.5(GAA):c.*139dup
|
rs865903736
|
0.10981
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
NM_000152.5(GAA):c.693-49C>T
|
rs78855075
|
0.09045
|
NM_000152.5(GAA):c.1327-321del
|
rs140385114
|
0.06638
|
NM_000152.5(GAA):c.1327-118A>G
|
rs74003628
|
0.06602
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_000152.5(GAA):c.*3G>A
|
rs1800317
|
0.05534
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_000152.5(GAA):c.1754+104C>G
|
rs2304839
|
0.04194
|
NM_000152.5(GAA):c.2189+95C>T
|
rs72850840
|
0.04030
|
NM_000152.5(GAA):c.1636+210G>A
|
rs79487884
|
0.04008
|
NM_000152.5(GAA):c.1755-186A>G
|
rs62075593
|
0.02562
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000152.5(GAA):c.1636+269C>T
|
rs111625854
|
0.01737
|
NM_000152.5(GAA):c.1636+284G>C
|
rs111551014
|
0.01737
|
NM_000152.5(GAA):c.2331+151C>T
|
rs111537160
|
0.01712
|
NM_000152.5(GAA):c.546+176C>T
|
rs117666398
|
0.01368
|
NM_000152.5(GAA):c.692+38C>T
|
rs2304848
|
0.01099
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000152.5(GAA):c.1551+42G>A
|
rs115427918
|
0.00904
|
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.2189+221A>C
|
rs79163810
|
0.00582
|
NM_000152.5(GAA):c.-32-181C>T
|
rs144604999
|
0.00537
|
NM_000152.5(GAA):c.2190-286G>A
|
rs115541603
|
0.00486
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_000152.5(GAA):c.859-21G>A
|
rs185883087
|
0.00465
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000152.5(GAA):c.-32-84G>A
|
rs368377256
|
0.00427
|
NM_000152.5(GAA):c.955+167C>T
|
rs77717164
|
0.00411
|
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.1438-32G>A
|
rs199897967
|
0.00320
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NM_000152.5(GAA):c.2190-53C>G
|
rs190988996
|
0.00317
|
NM_000152.5(GAA):c.2332-170C>G
|
rs149337310
|
0.00304
|
NM_000152.5(GAA):c.956-31T>C
|
rs201713593
|
0.00294
|
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.2331+156C>G
|
rs74796058
|
0.00164
|
NM_000152.5(GAA):c.-116C>T
|
rs190152638
|
0.00153
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
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.1755-18T>C
|
rs201399518
|
0.00082
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000152.5(GAA):c.2040+19C>T
|
rs559131285
|
0.00058
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
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.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000152.5(GAA):c.*64G>T
|
rs187532717
|
0.00037
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000152.5(GAA):c.2331+84C>G
|
rs185905012
|
0.00034
|
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.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
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.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000152.5(GAA):c.2799+19G>A
|
rs558187268
|
0.00016
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000152.5(GAA):c.*2C>T
|
rs761162129
|
0.00012
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
NM_000152.5(GAA):c.-18T>A
|
rs376939861
|
0.00010
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
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.2482-18G>A
|
rs757911622
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
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.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
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.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
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.858+15G>A
|
rs754760986
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1437+22C>T
|
rs544469136
|
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.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
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.-104C>T
|
rs960427191
|
0.00003
|
NM_000152.5(GAA):c.-32-5C>T
|
rs775682001
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
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.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
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.855C>A (p.Pro285=)
|
rs754080080
|
0.00003
|
NM_000152.5(GAA):c.867G>A (p.Ala289=)
|
rs534515557
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000152.5(GAA):c.-2C>T
|
rs560511228
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
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.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
0.00002
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
NM_000152.5(GAA):c.2445C>T (p.Asn815=)
|
rs755846997
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.2690C>G (p.Ala897Gly)
|
rs781520538
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
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.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
NM_000152.5(GAA):c.-33+17C>T
|
rs1157266131
|
0.00001
|
NM_000152.5(GAA):c.-37A>G
|
rs907981020
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
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.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
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.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.2738C>G (p.Pro913Arg)
|
rs1480070037
|
0.00001
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
NM_000152.5(GAA):c.955+5_955+6del
|
rs1567829535
|
0.00001
|
NM_000152.5(GAA):c.-103G>A
|
rs1598564555
|
|
NM_000152.5(GAA):c.-32-4G>A
|
rs760925777
|
|
NM_000152.5(GAA):c.-32-5C>G
|
rs775682001
|
|
NM_000152.5(GAA):c.-9T>C
|
rs780064272
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)
|
rs1064794288
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
NM_000152.5(GAA):c.1252A>G (p.Lys418Glu)
|
|
|
NM_000152.5(GAA):c.1327-229_1327-224del
|
rs11277442
|
|
NM_000152.5(GAA):c.1327-315del
|
rs11315030
|
|
NM_000152.5(GAA):c.1347_1350del (p.Gly450fs)
|
|
|
NM_000152.5(GAA):c.1369C>A (p.Pro457Thr)
|
rs2143866086
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1377C>G (p.Asp459Glu)
|
rs778121058
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
NM_000152.5(GAA):c.1437+3A>G
|
rs2143867314
|
|
NM_000152.5(GAA):c.1437+70T>A
|
rs2143867833
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
NM_000152.5(GAA):c.1446C>T (p.Pro482=)
|
rs529513250
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del)
|
rs1064794524
|
|
NM_000152.5(GAA):c.1510G>A (p.Ala504Thr)
|
rs2143872747
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
NM_000152.5(GAA):c.1636+118G>A
|
rs4889817
|
|
NM_000152.5(GAA):c.1636+118G>T
|
rs4889817
|
|
NM_000152.5(GAA):c.1637-138C>T
|
rs185604303
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
NM_000152.5(GAA):c.1755-200dup
|
rs71163924
|
|
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.1882G>T (p.Val628Leu)
|
rs745911962
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)
|
rs1057518106
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2061del (p.Phe687fs)
|
rs1064796706
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
NM_000152.5(GAA):c.2101C>T (p.Leu701=)
|
rs772378218
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
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.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
NM_000152.5(GAA):c.2332-40C>G
|
rs201904830
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.2599G>C (p.Val867Leu)
|
rs2039405275
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-2A>G
|
rs2143938217
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
NM_000152.5(GAA):c.454C>G (p.Leu152Val)
|
rs2143828990
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.547-176TCC[2]
|
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.693-78C>T
|
rs74003611
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.727G>A (p.Asp243Asn)
|
rs1555599600
|
|
NM_000152.5(GAA):c.748A>G (p.Thr250Ala)
|
rs2039117417
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
NM_000152.5(GAA):c.773C>G (p.Thr258Arg)
|
rs1214164784
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.955+155C>A
|
rs9901190
|
|
NM_000152.5(GAA):c.956-107G>A
|
rs2241888
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|