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.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_000152.5(GAA):c.1551+49C>A
|
rs2304843
|
0.66585
|
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.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.955+12G>A
|
rs2252455
|
0.65487
|
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.1754+144C>T
|
rs2304838
|
0.60815
|
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.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
NM_000152.5(GAA):c.*223C>T
|
rs8132
|
0.22255
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_000152.5(GAA):c.*419G>T
|
rs7567
|
0.19631
|
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.2040+66C>T
|
rs2304835
|
0.06422
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_000152.5(GAA):c.2040+69A>G
|
rs2304834
|
0.06120
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_000152.5(GAA):c.1636+43G>T
|
rs2304842
|
0.05728
|
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_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.2189+95C>T
|
rs72850840
|
0.04030
|
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.546+18G>A
|
rs190153982
|
0.00474
|
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.1438-32G>A
|
rs199897967
|
0.00320
|
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.*521A>G
|
rs142506588
|
0.00241
|
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.-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.*288G>T
|
rs568131293
|
0.00113
|
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.*443G>A
|
rs147801821
|
0.00093
|
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.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.859-18G>A
|
rs377222482
|
0.00046
|
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.1754+11C>T
|
rs371644603
|
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.*98A>T
|
rs886053548
|
0.00026
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
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.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
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.2245G>T (p.Ala749Ser)
|
rs148311222
|
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.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000152.5(GAA):c.2751C>T (p.Leu917=)
|
rs146507838
|
0.00020
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
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.*310C>T
|
rs550314730
|
0.00018
|
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.2274C>T (p.Ala758=)
|
rs150431943
|
0.00016
|
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.546+3G>A
|
rs371405931
|
0.00013
|
NM_000152.5(GAA):c.*2C>T
|
rs761162129
|
0.00012
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.2331+11G>C
|
rs376709495
|
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.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
NM_000152.5(GAA):c.546+4G>C
|
rs550618589
|
0.00011
|
NM_000152.5(GAA):c.-62A>C
|
rs367731841
|
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.2122C>T (p.His708Tyr)
|
rs149916476
|
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.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000152.5(GAA):c.1076-16C>T
|
rs367704731
|
0.00009
|
NM_000152.5(GAA):c.1302C>T (p.Gly434=)
|
rs752231775
|
0.00009
|
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.1754+21C>T
|
rs373387713
|
0.00009
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
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.2604G>A (p.Leu868=)
|
rs772250523
|
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.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.2189+10C>T
|
rs750905127
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
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.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
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.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.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
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.858+24G>C
|
rs770608668
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000152.5(GAA):c.955+15G>A
|
rs778687044
|
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.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
NM_000152.5(GAA):c.1488G>A (p.Leu496=)
|
rs750777002
|
0.00005
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
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.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
|
rs774018778
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000152.5(GAA):c.546+17C>T
|
rs529918753
|
0.00005
|
NM_000152.5(GAA):c.693-13C>G
|
rs760379754
|
0.00005
|
NM_000152.5(GAA):c.858+18G>A
|
rs747775111
|
0.00005
|
NM_000152.5(GAA):c.*264G>A
|
rs1219851042
|
0.00004
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
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.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1491C>T (p.Ala497=)
|
rs373993015
|
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.1710C>T (p.Asn570=)
|
rs765362308
|
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.1888+8C>T
|
rs772887194
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.246C>T (p.Cys82=)
|
rs749584846
|
0.00004
|
NM_000152.5(GAA):c.2647-6G>T
|
rs201525743
|
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.618C>T (p.Ser206=)
|
rs146292898
|
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.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000152.5(GAA):c.858+17C>T
|
rs371980868
|
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.1059G>A (p.Gln353=)
|
rs376146090
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)
|
rs752002666
|
0.00003
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
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.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
NM_000152.5(GAA):c.1636+10C>A
|
rs778634411
|
0.00003
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
NM_000152.5(GAA):c.1754+16C>T
|
rs369836797
|
0.00003
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
NM_000152.5(GAA):c.1803G>A (p.Ser601=)
|
rs368993048
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
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.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.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.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2481+14G>A
|
rs749667983
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000152.5(GAA):c.2757C>T (p.Asn919=)
|
rs766916186
|
0.00003
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
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.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
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.654C>T (p.Phe218=)
|
rs762830719
|
0.00003
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
NM_000152.5(GAA):c.69C>T (p.Thr23=)
|
rs746351336
|
0.00003
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
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.925G>A (p.Gly309Arg)
|
rs543300039
|
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.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
NM_000152.5(GAA):c.1194+16_1194+18del
|
rs750576595
|
0.00002
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
NM_000152.5(GAA):c.1438-11T>A
|
rs376247021
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
|
rs745482879
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
NM_000152.5(GAA):c.1637-17G>A
|
rs1031721446
|
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.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
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.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.1929G>A (p.Gly643=)
|
rs371096565
|
0.00002
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2331+16C>T
|
rs762495996
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.240A>G (p.Thr80=)
|
rs778124725
|
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.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
NM_000152.5(GAA):c.2482-19C>T
|
rs750055374
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
|
rs375831200
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
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.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.546+2_546+6dup
|
rs753159224
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.692+16T>C
|
rs774229249
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.72T>C (p.Ala24=)
|
rs747380728
|
0.00002
|
NM_000152.5(GAA):c.840C>G (p.Asn280Lys)
|
rs747820772
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
NM_000152.5(GAA):c.924C>T (p.His308=)
|
rs370105640
|
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.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
NM_000152.5(GAA):c.*163G>T
|
rs761668638
|
0.00001
|
NM_000152.5(GAA):c.*66G>A
|
rs908570853
|
0.00001
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
|
rs1249705476
|
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.1056G>A (p.Gln352=)
|
rs2039145288
|
0.00001
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1068C>T (p.Asp356=)
|
rs751215137
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.108G>A (p.Leu36=)
|
rs1369758261
|
0.00001
|
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
|
rs1555600060
|
0.00001
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
NM_000152.5(GAA):c.1107G>T (p.Leu369=)
|
rs767807936
|
0.00001
|
NM_000152.5(GAA):c.1110C>G (p.Gly370=)
|
rs775172804
|
0.00001
|
NM_000152.5(GAA):c.1116C>T (p.His372=)
|
rs760146859
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
NM_000152.5(GAA):c.1161G>C (p.Val387=)
|
rs756211975
|
0.00001
|
NM_000152.5(GAA):c.1170C>T (p.Asn390=)
|
rs757174980
|
0.00001
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
NM_000152.5(GAA):c.1195-4G>T
|
rs886042626
|
0.00001
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
|
rs1555600168
|
0.00001
|
NM_000152.5(GAA):c.1200C>G (p.Val400=)
|
rs1431452557
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1227C>T (p.Asp409=)
|
rs2039157937
|
0.00001
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
|
rs761982159
|
0.00001
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
NM_000152.5(GAA):c.1326+8C>A
|
rs762988038
|
0.00001
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
|
rs931782061
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
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.1438-10C>T
|
rs1029231930
|
0.00001
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
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.1448G>T (p.Gly483Val)
|
rs2039213206
|
0.00001
|
NM_000152.5(GAA):c.1449G>A (p.Gly483=)
|
rs2039213274
|
0.00001
|
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
|
rs774037839
|
0.00001
|
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
|
rs1051768479
|
0.00001
|
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
|
rs767075458
|
0.00001
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
NM_000152.5(GAA):c.1500G>A (p.Glu500=)
|
rs893313279
|
0.00001
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
|
rs150990571
|
0.00001
|
NM_000152.5(GAA):c.1551+10G>T
|
rs1002900770
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1551+7G>A
|
rs1340464172
|
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.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
NM_000152.5(GAA):c.1610del (p.Glu537fs)
|
rs762060817
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1636+14C>T
|
rs758256318
|
0.00001
|
NM_000152.5(GAA):c.1636+7T>C
|
rs1041767114
|
0.00001
|
NM_000152.5(GAA):c.1636+9G>A
|
rs200302174
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
NM_000152.5(GAA):c.1662G>A (p.Ala554=)
|
rs775954786
|
0.00001
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
NM_000152.5(GAA):c.1698C>T (p.Ser566=)
|
rs970201201
|
0.00001
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
0.00001
|
NM_000152.5(GAA):c.1754+8C>T
|
rs1349192080
|
0.00001
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
NM_000152.5(GAA):c.1755-11C>T
|
rs752066426
|
0.00001
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1797C>A (p.Ser599=)
|
rs761377657
|
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.1822C>T (p.Arg608Ter)
|
rs749529161
|
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.183C>T (p.Ser61=)
|
rs17853995
|
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.1857C>T (p.Ser619=)
|
rs914396317
|
0.00001
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
NM_000152.5(GAA):c.1889-14C>T
|
rs890806224
|
0.00001
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
NM_000152.5(GAA):c.1926C>T (p.Val642=)
|
rs1346499760
|
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.1959C>T (p.Thr653=)
|
rs370737292
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.1977G>A (p.Val659=)
|
rs751873094
|
0.00001
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2040+8G>A
|
rs779647712
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.2041-14C>T
|
rs1047297951
|
0.00001
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
NM_000152.5(GAA):c.2041-7C>T
|
rs1212995227
|
0.00001
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
|
rs757802524
|
0.00001
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
|
rs1479318289
|
0.00001
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
NM_000152.5(GAA):c.2142C>T (p.His714=)
|
rs779462990
|
0.00001
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2259C>T (p.Thr753=)
|
rs2039367115
|
0.00001
|
NM_000152.5(GAA):c.2283C>T (p.Ala761=)
|
rs774769974
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.234G>T (p.Val78=)
|
rs2039033854
|
0.00001
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
NM_000152.5(GAA):c.2463G>T (p.Gly821=)
|
rs923989221
|
0.00001
|
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
|
rs2039389671
|
0.00001
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
NM_000152.5(GAA):c.2481+12A>G
|
rs773652476
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
NM_000152.5(GAA):c.2544C>T (p.Thr848=)
|
rs776487269
|
0.00001
|
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
|
rs761608706
|
0.00001
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
NM_000152.5(GAA):c.2646+11G>A
|
rs1219786295
|
0.00001
|
NM_000152.5(GAA):c.2646+8C>A
|
rs773123506
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.264C>T (p.Ser88=)
|
rs1470933192
|
0.00001
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
|
rs774840779
|
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.2700G>A (p.Gln900=)
|
rs1490464728
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.270C>T (p.Phe90=)
|
rs768078324
|
0.00001
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
NM_000152.5(GAA):c.276C>T (p.Cys92=)
|
rs1232001857
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.2803C>T (p.Leu935=)
|
rs746826091
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
NM_000152.5(GAA):c.2844C>T (p.Leu948=)
|
rs774656713
|
0.00001
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
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.372G>A (p.Gln124=)
|
rs899924363
|
0.00001
|
NM_000152.5(GAA):c.384C>T (p.Phe128=)
|
rs1021707839
|
0.00001
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
NM_000152.5(GAA):c.421C>T (p.Leu141=)
|
rs1379595858
|
0.00001
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
NM_000152.5(GAA):c.42C>G (p.Ala14=)
|
rs141377453
|
0.00001
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.450C>G (p.Ala150=)
|
rs752367410
|
0.00001
|
NM_000152.5(GAA):c.456G>T (p.Leu152=)
|
rs1477781307
|
0.00001
|
NM_000152.5(GAA):c.459C>G (p.Thr153=)
|
rs751672437
|
0.00001
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
NM_000152.5(GAA):c.468C>T (p.Thr156=)
|
rs145849611
|
0.00001
|
NM_000152.5(GAA):c.471C>T (p.Pro157=)
|
rs551653463
|
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.48C>T (p.Cys16=)
|
rs202168804
|
0.00001
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
NM_000152.5(GAA):c.546+12A>G
|
rs1438157883
|
0.00001
|
NM_000152.5(GAA):c.546+7A>C
|
rs1329049814
|
0.00001
|
NM_000152.5(GAA):c.547-41G>C
|
rs753870549
|
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.568C>T (p.Arg190Cys)
|
rs771258854
|
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.594G>A (p.Pro198=)
|
rs1426823689
|
0.00001
|
NM_000152.5(GAA):c.603C>T (p.His201=)
|
rs1442775924
|
0.00001
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
NM_000152.5(GAA):c.609G>A (p.Arg203=)
|
rs1247872563
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.621A>G (p.Pro207=)
|
rs772482115
|
0.00001
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
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.681C>T (p.Asp227=)
|
rs780515378
|
0.00001
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
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.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
NM_000152.5(GAA):c.715C>T (p.Leu239=)
|
rs778882374
|
0.00001
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
NM_000152.5(GAA):c.798C>G (p.Pro266=)
|
rs1598575210
|
0.00001
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
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.843G>A (p.Arg281=)
|
rs1221565410
|
0.00001
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
NM_000152.5(GAA):c.859-19C>T
|
rs1331623680
|
0.00001
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
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.876C>T (p.Tyr292=)
|
rs763216519
|
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.909C>T (p.Asp303=)
|
rs752724918
|
0.00001
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000152.5(GAA):c.936G>T (p.Leu312=)
|
rs1456154347
|
0.00001
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
NM_000152.5(GAA):c.996G>A (p.Ser332=)
|
rs779266179
|
0.00001
|
NM_000152.5(GAA):c.99T>C (p.His33=)
|
rs144736309
|
0.00001
|
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
|
|
|
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
|
|
|
NC_000017.10:g.(?_78078341)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78078341)_(78093150_?)dup
|
|
|
NC_000017.10:g.(?_78082486)_(78087175_?)del
|
|
|
NC_000017.10:g.(?_78084516)_(78084834_?)del
|
|
|
NC_000017.10:g.(?_78085283)_(78092476_?)del
|
|
|
NC_000017.10:g.(?_78090757)_(78092614_?)del
|
|
|
NC_000017.10:g.(?_78090757)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78091652)_78092189del
|
|
|
NC_000017.10:g.(?_78091972)_(78092176_?)del
|
|
|
NC_000017.11:g.(?_80104542)_(80105914_?)del
|
|
|
NC_000017.11:g.(?_80107537)_(80113386_?)del
|
|
|
NC_000017.11:g.(?_80108677)_(80113386_?)del
|
|
|
NC_000017.11:g.(?_80109935)_(80113376_?)del
|
|
|
NC_000017.11:g.(?_80118183)_(80118367_?)del
|
|
|
NC_000017.11:g.(?_80118193)_(80118357_?)del
|
|
|
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
|
|
|
NM_000152.5(GAA):c.*128T>C
|
rs886053549
|
|
NM_000152.5(GAA):c.*219G>A
|
rs1216535924
|
|
NM_000152.5(GAA):c.*309C>T
|
rs886053550
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
NM_000152.5(GAA):c.*82C>T
|
rs745999686
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
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.-32-385_143del
|
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.-32-3del
|
|
|
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.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
NM_000152.5(GAA):c.1005G>A (p.Gly335=)
|
rs1598576696
|
|
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
|
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
|
|
NM_000152.5(GAA):c.1008C>A (p.Ile336=)
|
rs994615279
|
|
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
|
|
|
NM_000152.5(GAA):c.1009C>T (p.Leu337=)
|
rs1387814304
|
|
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
|
|
|
NM_000152.5(GAA):c.1017C>T (p.Val339=)
|
rs1242745765
|
|
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_000152.5(GAA):c.1020C>T (p.Tyr340=)
|
rs1358917187
|
|
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
|
|
|
NM_000152.5(GAA):c.1026C>T (p.Phe342=)
|
rs910930578
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
|
|
|
NM_000152.5(GAA):c.1035A>C (p.Pro345=)
|
rs942325926
|
|
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
|
|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
|
NM_000152.5(GAA):c.1041C>T (p.Pro347=)
|
rs1489442441
|
|
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
|
|
|
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
|
|
|
NM_000152.5(GAA):c.1057del (p.Gln353fs)
|
rs2143853690
|
|
NM_000152.5(GAA):c.105C>T (p.Phe35=)
|
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1062C>T (p.Tyr354=)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
|
rs2143853784
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
NM_000152.5(GAA):c.1071T>C (p.Val357=)
|
rs1598576937
|
|
NM_000152.5(GAA):c.1075+10G>A
|
|
|
NM_000152.5(GAA):c.1075+14C>G
|
|
|
NM_000152.5(GAA):c.1075+14C>T
|
rs376547092
|
|
NM_000152.5(GAA):c.1075+15C>T
|
|
|
NM_000152.5(GAA):c.1075+16T>C
|
|
|
NM_000152.5(GAA):c.1075+18G>A
|
|
|
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.1075+5G>A
|
|
|
NM_000152.5(GAA):c.1075+7C>T
|
|
|
NM_000152.5(GAA):c.1075+8del
|
|
|
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
|
|
|
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)
|
rs1064794288
|
|
NM_000152.5(GAA):c.1076-11T>C
|
|
|
NM_000152.5(GAA):c.1076-12G>A
|
|
|
NM_000152.5(GAA):c.1076-12del
|
rs2039148326
|
|
NM_000152.5(GAA):c.1076-13C>T
|
|
|
NM_000152.5(GAA):c.1076-14G>A
|
rs2143854410
|
|
NM_000152.5(GAA):c.1076-15G>A
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>T
|
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
NM_000152.5(GAA):c.1076-4G>T
|
rs2039148417
|
|
NM_000152.5(GAA):c.1076-7C>T
|
|
|
NM_000152.5(GAA):c.1076-8G>A
|
|
|
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
|
rs2143854519
|
|
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)
|
rs755253527
|
|
NM_000152.5(GAA):c.1082dup (p.Phe362fs)
|
rs2143854537
|
|
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
|
rs2143854600
|
|
NM_000152.5(GAA):c.1089G>A (p.Met363Ile)
|
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.108G>T (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
|
|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
|
|
NM_000152.5(GAA):c.1091del (p.Pro364fs)
|
rs2143854659
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
|
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
NM_000152.5(GAA):c.1098C>T (p.Tyr366=)
|
rs2143854770
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1099del (p.Trp367fs)
|
rs1057516785
|
|
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
|
rs1478500490
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
|
rs2143854883
|
|
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
|
|
|
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
|
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
|
rs775172804
|
|
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.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
NM_000152.5(GAA):c.1119G>A (p.Leu373=)
|
rs763579808
|
|
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
|
rs1342501706
|
|
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.1129G>A (p.Gly377Ser)
|
rs752002666
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
NM_000152.5(GAA):c.1130del (p.Gly377fs)
|
rs754134578
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1134C>T (p.Tyr378=)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
|
rs2039151138
|
|
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1140C>T (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
|
|
|
NM_000152.5(GAA):c.1153del (p.Arg385fs)
|
rs1555600102
|
|
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
|
|
|
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
|
rs2143855573
|
|
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
|
|
NM_000152.5(GAA):c.1164G>A (p.Val388=)
|
rs2143855798
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
|
rs2143855934
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
NM_000152.5(GAA):c.117C>T (p.Pro39=)
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
|
rs771894765
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
NM_000152.5(GAA):c.1185C>T (p.His395=)
|
rs2143856022
|
|
NM_000152.5(GAA):c.1188C>T (p.Phe396=)
|
rs756126944
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
|
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
NM_000152.5(GAA):c.1192del (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)
|
rs1598577666
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+10G>A
|
rs2143856297
|
|
NM_000152.5(GAA):c.1194+10G>T
|
|
|
NM_000152.5(GAA):c.1194+11G>T
|
|
|
NM_000152.5(GAA):c.1194+11del
|
rs2143856264
|
|
NM_000152.5(GAA):c.1194+13G>A
|
|
|
NM_000152.5(GAA):c.1194+15T>A
|
|
|
NM_000152.5(GAA):c.1194+15T>C
|
|
|
NM_000152.5(GAA):c.1194+19dup
|
|
|
NM_000152.5(GAA):c.1194+20G>C
|
|
|
NM_000152.5(GAA):c.1194+2T>C
|
rs1057516215
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
NM_000152.5(GAA):c.1194+5G>A
|
rs2039153749
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
NM_000152.5(GAA):c.1194+8G>T
|
rs2143856250
|
|
NM_000152.5(GAA):c.1194+9G>A
|
|
|
NM_000152.5(GAA):c.1194+9G>T
|
|
|
NM_000152.5(GAA):c.1195-15G>C
|
rs373840229
|
|
NM_000152.5(GAA):c.1195-16C>T
|
|
|
NM_000152.5(GAA):c.1195-17C>G
|
|
|
NM_000152.5(GAA):c.1195-18C>A
|
|
|
NM_000152.5(GAA):c.1195-19T>C
|
|
|
NM_000152.5(GAA):c.1195-19_2190-17del
|
|
|
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.1195-4G>A
|
|
|
NM_000152.5(GAA):c.1195-5T>C
|
rs2143856963
|
|
NM_000152.5(GAA):c.1195-7del
|
|
|
NM_000152.5(GAA):c.1195-9T>C
|
rs2143856933
|
|
NM_000152.5(GAA):c.1198del (p.Val400fs)
|
|
|
NM_000152.5(GAA):c.1200C>T (p.Val400=)
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
|
rs2143857187
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1215G>A (p.Leu405=)
|
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
|
rs2039157400
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
|
rs2039157751
|
|
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs)
|
rs1598578030
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
NM_000152.5(GAA):c.1230C>A (p.Ser410=)
|
rs746340075
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
|
rs2039158556
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
NM_000152.5(GAA):c.1241del (p.Phe414fs)
|
|
|
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu)
|
rs1555600194
|
|
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
|
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
NM_000152.5(GAA):c.126G>C (p.Leu42=)
|
rs2143825047
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1274del (p.Pro425fs)
|
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
|
|
|
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)
|
rs1555600212
|
|
NM_000152.5(GAA):c.1284G>T (p.Val428=)
|
rs2143857912
|
|
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
|
|
|
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
|
rs1172862164
|
|
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
|
|
|
NM_000152.5(GAA):c.1296C>T (p.His432=)
|
rs2143858058
|
|
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs)
|
rs2143858151
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
|
|
|
NM_000152.5(GAA):c.1308del (p.Arg437fs)
|
rs2143858305
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
NM_000152.5(GAA):c.1311C>T (p.Arg437=)
|
rs1234415461
|
|
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
|
|
|
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
NM_000152.5(GAA):c.1320G>C (p.Met440Ile)
|
rs550837627
|
|
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
|
|
|
NM_000152.5(GAA):c.1326+12C>G
|
|
|
NM_000152.5(GAA):c.1326+12del
|
|
|
NM_000152.5(GAA):c.1326+15A>G
|
rs2143858786
|
|
NM_000152.5(GAA):c.1326+16C>G
|
|
|
NM_000152.5(GAA):c.1326+16C>T
|
|
|
NM_000152.5(GAA):c.1326+20G>T
|
rs774138443
|
|
NM_000152.5(GAA):c.1326+2T>C
|
rs1434761678
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
NM_000152.5(GAA):c.1326+7G>A
|
|
|
NM_000152.5(GAA):c.1326+8C>G
|
|
|
NM_000152.5(GAA):c.1326+8C>T
|
rs762988038
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
NM_000152.5(GAA):c.1327-10C>T
|
|
|
NM_000152.5(GAA):c.1327-12C>T
|
|
|
NM_000152.5(GAA):c.1327-16G>A
|
|
|
NM_000152.5(GAA):c.1327-16G>T
|
rs1378637239
|
|
NM_000152.5(GAA):c.1327-18A>C
|
|
|
NM_000152.5(GAA):c.1327-19_1327-18inv
|
|
|
NM_000152.5(GAA):c.1327-20A>G
|
rs2143865452
|
|
NM_000152.5(GAA):c.1327-4C>T
|
|
|
NM_000152.5(GAA):c.1327-5C>A
|
rs1314883749
|
|
NM_000152.5(GAA):c.1327-5C>T
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
NM_000152.5(GAA):c.1327-8C>T
|
rs1598579967
|
|
NM_000152.5(GAA):c.1327-9T>C
|
|
|
NM_000152.5(GAA):c.132C>T (p.Gly44=)
|
rs2143825106
|
|
NM_000152.5(GAA):c.1336A>G (p.Ile446Val)
|
rs775612060
|
|
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)
|
rs1555600488
|
|
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
|
rs2143865725
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
|
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
|
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
|
rs756938942
|
|
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
|
rs2039190879
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
|
|
|
NM_000152.5(GAA):c.1356del (p.Ser454fs)
|
rs2039191420
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
NM_000152.5(GAA):c.1359G>A (p.Gly453=)
|
rs2143866026
|
|
NM_000152.5(GAA):c.135C>T (p.Ser45=)
|
rs2143825187
|
|
NM_000152.5(GAA):c.1362C>T (p.Ser454=)
|
|
|
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
|
|
|
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
|
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
|
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn)
|
rs2143866239
|
|
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.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs)
|
rs2143866321
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)
|
rs2143866454
|
|
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
|
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
|
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
NM_000152.5(GAA):c.1392G>A (p.Arg464=)
|
rs372786811
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
NM_000152.5(GAA):c.1395G>A (p.Gly465=)
|
rs2143866655
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
NM_000152.5(GAA):c.1396del (p.Val466fs)
|
rs1273392818
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup)
|
rs2039193694
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
|
|
|
NM_000152.5(GAA):c.1422G>A (p.Gln474=)
|
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
|
|
|
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
|
rs2039195145
|
|
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
|
rs2039195201
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
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+15C>T
|
rs2143867420
|
|
NM_000152.5(GAA):c.1437+16A>G
|
|
|
NM_000152.5(GAA):c.1437+16_1437+22dup
|
|
|
NM_000152.5(GAA):c.1437+18G>C
|
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
NM_000152.5(GAA):c.1437+20G>C
|
|
|
NM_000152.5(GAA):c.1437+20G>T
|
|
|
NM_000152.5(GAA):c.1437+2T>C
|
rs1598580407
|
|
NM_000152.5(GAA):c.1437+7C>G
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+7C>T
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+8G>C
|
rs779194427
|
|
NM_000152.5(GAA):c.1437G>A (p.Lys479=)
|
rs796051877
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
NM_000152.5(GAA):c.1438-12C>G
|
|
|
NM_000152.5(GAA):c.1438-12C>T
|
|
|
NM_000152.5(GAA):c.1438-13T>C
|
rs1598581379
|
|
NM_000152.5(GAA):c.1438-14C>T
|
|
|
NM_000152.5(GAA):c.1438-15_1438-1del
|
rs1567832762
|
|
NM_000152.5(GAA):c.1438-19G>A
|
|
|
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.1438-6G>C
|
rs1252384762
|
|
NM_000152.5(GAA):c.1438-7T>C
|
rs1484346995
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1438-9G>C
|
|
|
NM_000152.5(GAA):c.1438-9G>T
|
rs202211401
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
|
|
|
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
|
rs2143871845
|
|
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.1446C>T (p.Pro482=)
|
rs529513250
|
|
NM_000152.5(GAA):c.144C>T (p.Val48=)
|
rs1055575232
|
|
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)
|
rs1337100943
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
NM_000152.5(GAA):c.1455T>C (p.Thr485=)
|
rs774037839
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
|
rs2039213824
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
|
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
NM_000152.5(GAA):c.147G>A (p.Leu49=)
|
rs915625623
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
NM_000152.5(GAA):c.1486C>T (p.Leu496=)
|
rs1598581572
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
|
rs1555598609
|
|
NM_000152.5(GAA):c.148_859-11del
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
NM_000152.5(GAA):c.1509G>A (p.Val503=)
|
rs2143872732
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1518C>T (p.Phe506=)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1519dup (p.His507fs)
|
rs2039216097
|
|
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
|
|
|
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
|
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
NM_000152.5(GAA):c.1533C>G (p.Pro511=)
|
rs1598581655
|
|
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.1538A>G (p.Asp513Gly)
|
rs1598581682
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
NM_000152.5(GAA):c.1551+10G>A
|
|
|
NM_000152.5(GAA):c.1551+10dup
|
rs2143873218
|
|
NM_000152.5(GAA):c.1551+11C>T
|
|
|
NM_000152.5(GAA):c.1551+15C>G
|
|
|
NM_000152.5(GAA):c.1551+15del
|
|
|
NM_000152.5(GAA):c.1551+1G>A
|
rs770780848
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1551+20G>A
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
NM_000152.5(GAA):c.1551+5G>A
|
rs2039217485
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
NM_000152.5(GAA):c.1551+7G>T
|
rs1340464172
|
|
NM_000152.5(GAA):c.1552-10del
|
|
|
NM_000152.5(GAA):c.1552-12C>A
|
rs2143873890
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
NM_000152.5(GAA):c.1552-16A>G
|
|
|
NM_000152.5(GAA):c.1552-20C>T
|
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
NM_000152.5(GAA):c.1552-7C>G
|
|
|
NM_000152.5(GAA):c.1552-7C>T
|
rs2039221235
|
|
NM_000152.5(GAA):c.1552-8T>C
|
rs2039221161
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1557G>A (p.Met519Ile)
|
rs1447365901
|
|
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
|
rs2143874124
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
NM_000152.5(GAA):c.1559del (p.Asn520fs)
|
rs2143874154
|
|
NM_000152.5(GAA):c.1560del (p.Asn520fs)
|
|
|
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
|
|
|
NM_000152.5(GAA):c.1561del (p.Glu521fs)
|
|
|
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.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
NM_000152.5(GAA):c.156T>A (p.Thr52=)
|
rs2143825403
|
|
NM_000152.5(GAA):c.156_157del (p.His53fs)
|
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
NM_000152.5(GAA):c.1572C>T (p.Asn524=)
|
rs1417304813
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
|
NM_000152.5(GAA):c.1575dup (p.Ile526fs)
|
rs2143874398
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1579del (p.Arg527fs)
|
rs2039222879
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)
|
rs1598582021
|
|
NM_000152.5(GAA):c.1587del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1589del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
NM_000152.5(GAA):c.159C>T (p.His53=)
|
rs2143825464
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
|
rs1241189076
|
|
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs)
|
rs2143874754
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
NM_000152.5(GAA):c.1632G>C (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1632G>T (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
NM_000152.5(GAA):c.1636+10C>G
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+10C>T
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+11C>T
|
|
|
NM_000152.5(GAA):c.1636+12C>G
|
|
|
NM_000152.5(GAA):c.1636+12C>T
|
|
|
NM_000152.5(GAA):c.1636+15C>G
|
|
|
NM_000152.5(GAA):c.1636+15C>T
|
|
|
NM_000152.5(GAA):c.1636+15dup
|
rs765563836
|
|
NM_000152.5(GAA):c.1636+17C>T
|
rs1003384850
|
|
NM_000152.5(GAA):c.1636+18C>T
|
|
|
NM_000152.5(GAA):c.1636+19T>A
|
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1636+460_2672del
|
|
|
NM_000152.5(GAA):c.1636+7del
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
NM_000152.5(GAA):c.1637-11G>C
|
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
NM_000152.5(GAA):c.1637-12dup
|
|
|
NM_000152.5(GAA):c.1637-19C>T
|
|
|
NM_000152.5(GAA):c.1637-2A>G
|
rs2143882034
|
|
NM_000152.5(GAA):c.1637-9C>T
|
rs1598583515
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
NM_000152.5(GAA):c.1649G>T (p.Gly550Val)
|
rs2039246464
|
|
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
|
rs747638133
|
|
NM_000152.5(GAA):c.1650del (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
|
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
NM_000152.5(GAA):c.1654del (p.Leu552fs)
|
rs2039246615
|
|
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
|
rs2039246860
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
|
|
|
NM_000152.5(GAA):c.1668C>T (p.Thr556=)
|
rs1415372735
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)
|
rs1408164312
|
|
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
|
|
|
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
|
|
|
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
|
rs2143882693
|
|
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs)
|
rs2143882664
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
|
rs2143882734
|
|
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
|
rs2143882764
|
|
NM_000152.5(GAA):c.1686C>T (p.His562=)
|
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692T>C (p.Phe564=)
|
rs886043997
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
|
|
|
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
|
rs2143882915
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
|
rs776882059
|
|
NM_000152.5(GAA):c.1704C>T (p.His568=)
|
rs776882059
|
|
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
|
rs2143883054
|
|
NM_000152.5(GAA):c.1705dup (p.Tyr569fs)
|
rs2143883097
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
|
rs1405669960
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1716C>T (p.His572=)
|
rs772962666
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)
|
rs112517802
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
NM_000152.5(GAA):c.1728C>G (p.Gly576=)
|
rs2143883499
|
|
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
|
|
|
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
|
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
NM_000152.5(GAA):c.1752C>T (p.His584=)
|
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
NM_000152.5(GAA):c.1754+12G>T
|
|
|
NM_000152.5(GAA):c.1754+15C>T
|
|
|
NM_000152.5(GAA):c.1754+18C>T
|
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
NM_000152.5(GAA):c.1754+2T>A
|
|
|
NM_000152.5(GAA):c.1754+2T>C
|
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
NM_000152.5(GAA):c.1754+9C>G
|
rs1319204794
|
|
NM_000152.5(GAA):c.1755-12C>A
|
|
|
NM_000152.5(GAA):c.1755-16del
|
|
|
NM_000152.5(GAA):c.1755-17G>A
|
|
|
NM_000152.5(GAA):c.1755-19G>A
|
|
|
NM_000152.5(GAA):c.1755-1G>A
|
rs2039261208
|
|
NM_000152.5(GAA):c.1755-20G>A
|
|
|
NM_000152.5(GAA):c.1755-5C>T
|
|
|
NM_000152.5(GAA):c.1755-8C>G
|
|
|
NM_000152.5(GAA):c.1755-9C>T
|
|
|
NM_000152.5(GAA):c.1758G>T (p.Ala586=)
|
rs79795428
|
|
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
|
rs2039261436
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
NM_000152.5(GAA):c.1764G>A (p.Val588=)
|
rs2143887715
|
|
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
|
rs1317655623
|
|
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.1782C>A (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)
|
rs763772240
|
|
NM_000152.5(GAA):c.1791G>C (p.Val597=)
|
rs2039262436
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
|
rs761377657
|
|
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.17C>A (p.Pro6Gln)
|
rs771409180
|
|
NM_000152.5(GAA):c.1800C>T (p.Arg600=)
|
rs1598584611
|
|
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)
|
rs374470794
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1803G>T (p.Ser601=)
|
rs368993048
|
|
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
|
rs781484283
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
NM_000152.5(GAA):c.1806C>A (p.Thr602=)
|
rs1598584645
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
NM_000152.5(GAA):c.180C>G (p.Ala60=)
|
rs2039031609
|
|
NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup)
|
rs1555601409
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
|
|
|
NM_000152.5(GAA):c.1834C>A (p.His612Asn)
|
rs2039264895
|
|
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
|
rs768397968
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
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.1842G>C (p.Thr614=)
|
rs373955374
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
|
|
|
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)
|
rs796161389
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
NM_000152.5(GAA):c.1846dup (p.Asp616fs)
|
rs1249187013
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
NM_000152.5(GAA):c.1848dup (p.Val617fs)
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
|
|
|
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.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
|
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
NM_000152.5(GAA):c.1878C>T (p.Ser626=)
|
rs2143889719
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
NM_000152.5(GAA):c.1882G>T (p.Val628Leu)
|
rs745911962
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
NM_000152.5(GAA):c.1888+10T>C
|
|
|
NM_000152.5(GAA):c.1888+12C>A
|
|
|
NM_000152.5(GAA):c.1888+15G>A
|
|
|
NM_000152.5(GAA):c.1888+18G>A
|
rs1452309871
|
|
NM_000152.5(GAA):c.1888+18G>C
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1888+20G>C
|
|
|
NM_000152.5(GAA):c.1888+49_1888+72del
|
rs1555601511
|
|
NM_000152.5(GAA):c.1888+51_1888+74del
|
rs1555601512
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
NM_000152.5(GAA):c.1889-12_1889-11del
|
rs777483558
|
|
NM_000152.5(GAA):c.1889-13T>C
|
|
|
NM_000152.5(GAA):c.1889-15A>T
|
|
|
NM_000152.5(GAA):c.1889-18C>G
|
|
|
NM_000152.5(GAA):c.1889-20G>A
|
|
|
NM_000152.5(GAA):c.1889-4C>T
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1889-7C>T
|
|
|
NM_000152.5(GAA):c.1893C>T (p.Ile631=)
|
rs1598585395
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)
|
rs1598585402
|
|
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
NM_000152.5(GAA):c.189A>C (p.Pro63=)
|
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
|
|
|
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.1905C>T (p.Asn635=)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
|
rs1296740179
|
|
NM_000152.5(GAA):c.1908G>C (p.Leu636=)
|
|
|
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)
|
rs2039275157
|
|
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
|
|
|
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
|
rs1294428728
|
|
NM_000152.5(GAA):c.1914G>A (p.Gly638=)
|
rs1305357140
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1926C>G (p.Val642=)
|
rs1346499760
|
|
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.1935C>T (p.Asp645=)
|
rs28940868
|
|
NM_000152.5(GAA):c.1937del (p.Val646fs)
|
|
|
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.1941C>T (p.Cys647=)
|
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.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
NM_000152.5(GAA):c.1947C>T (p.Phe649=)
|
rs770248553
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
|
|
|
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
|
|
|
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)
|
rs1057518106
|
|
NM_000152.5(GAA):c.1962A>G (p.Ser654=)
|
rs2143892394
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
|
|
|
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
|
rs2143892473
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
|
rs2039278843
|
|
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
|
rs2143892654
|
|
NM_000152.5(GAA):c.1987del (p.Gln663fs)
|
rs2143892615
|
|
NM_000152.5(GAA):c.1989G>A (p.Gln663=)
|
rs1189531783
|
|
NM_000152.5(GAA):c.198G>A (p.Arg66=)
|
rs2143825886
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
|
rs2039279293
|
|
NM_000152.5(GAA):c.199del (p.Asp67fs)
|
rs2143825870
|
|
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.2001C>T (p.Phe667=)
|
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
|
|
|
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
|
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
|
|
|
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2022C>T (p.His674=)
|
|
|
NM_000152.5(GAA):c.2028C>T (p.Ser676=)
|
rs1209690340
|
|
NM_000152.5(GAA):c.2029C>T (p.Leu677=)
|
rs1272817506
|
|
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln)
|
rs886053546
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
NM_000152.5(GAA):c.2040+11_2040+18dup
|
rs745338070
|
|
NM_000152.5(GAA):c.2040+13T>C
|
|
|
NM_000152.5(GAA):c.2040+14G>A
|
|
|
NM_000152.5(GAA):c.2040+15G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>T
|
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
NM_000152.5(GAA):c.2040+1G>C
|
rs1057516928
|
|
NM_000152.5(GAA):c.2040+1del
|
rs1555601662
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
NM_000152.5(GAA):c.2040+8G>C
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+8G>T
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+9G>A
|
|
|
NM_000152.5(GAA):c.2040+9G>C
|
|
|
NM_000152.5(GAA):c.2040G>A (p.Leu680=)
|
rs2039280842
|
|
NM_000152.5(GAA):c.2041-14del
|
|
|
NM_000152.5(GAA):c.2041-14dup
|
|
|
NM_000152.5(GAA):c.2041-15C>G
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
NM_000152.5(GAA):c.2041-20T>C
|
|
|
NM_000152.5(GAA):c.2041-4G>A
|
rs775757700
|
|
NM_000152.5(GAA):c.2041-9G>A
|
rs912717099
|
|
NM_000152.5(GAA):c.2041-9G>T
|
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
|
|
|
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
|
|
|
NM_000152.5(GAA):c.204C>T (p.Ala68=)
|
rs2143825931
|
|
NM_000152.5(GAA):c.2052G>T (p.Pro684=)
|
rs546463058
|
|
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del)
|
rs1555601721
|
|
NM_000152.5(GAA):c.2055C>T (p.Tyr685=)
|
rs750214208
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
NM_000152.5(GAA):c.2061del (p.Phe687fs)
|
rs1064796706
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)
|
rs398123171
|
|
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
|
|
|
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
|
rs2039287628
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
NM_000152.5(GAA):c.2078dup (p.Ala694fs)
|
rs730880372
|
|
NM_000152.5(GAA):c.207G>A (p.Gln69=)
|
rs2039032628
|
|
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
NM_000152.5(GAA):c.2088G>A (p.Arg696=)
|
rs2143895840
|
|
NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
|
NM_000152.5(GAA):c.2091G>A (p.Lys697=)
|
rs2143895855
|
|
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
|
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
|
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
|
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)
|
rs150728610
|
|
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2112A>G (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2115C>G (p.Leu705=)
|
|
|
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
|
rs372881095
|
|
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
|
rs1479318289
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
NM_000152.5(GAA):c.2121C>T (p.Pro707=)
|
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
NM_000152.5(GAA):c.2124C>T (p.His708=)
|
rs751187069
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
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.2132_2133inv (p.Thr711Met)
|
|
|
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
|
rs752233229
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.213C>T (p.His71=)
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2148C>G (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
NM_000152.5(GAA):c.2154C>G (p.Val718=)
|
rs1800311
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)
|
rs140376273
|
|
NM_000152.5(GAA):c.2161del (p.Glu721fs)
|
rs1555601802
|
|
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
|
rs1555601802
|
|
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
|
rs2143896953
|
|
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal)
|
rs2039292050
|
|
NM_000152.5(GAA):c.2169G>A (p.Val723=)
|
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
|
rs2039292373
|
|
NM_000152.5(GAA):c.2173del (p.Arg725fs)
|
rs2039292320
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
|
rs2143897169
|
|
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.2178C>G (p.Pro726=)
|
|
|
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)
|
rs1555601828
|
|
NM_000152.5(GAA):c.2189+10_2189+11del
|
|
|
NM_000152.5(GAA):c.2189+16del
|
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
NM_000152.5(GAA):c.2189+5_2189+8del
|
rs2039293139
|
|
NM_000152.5(GAA):c.2189+9C>G
|
rs2039293292
|
|
NM_000152.5(GAA):c.2189+9C>T
|
rs2039293292
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
NM_000152.5(GAA):c.2190-16C>T
|
|
|
NM_000152.5(GAA):c.2190-20T>C
|
rs1485579975
|
|
NM_000152.5(GAA):c.2190-20T>G
|
|
|
NM_000152.5(GAA):c.2190-7C>G
|
|
|
NM_000152.5(GAA):c.2190-9C>A
|
|
|
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
|
|
|
NM_000152.5(GAA):c.2196C>A (p.Pro732=)
|
rs915890435
|
|
NM_000152.5(GAA):c.21C>T (p.Pro7=)
|
rs2143823837
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
|
rs2143918429
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
NM_000152.5(GAA):c.2211C>G (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
|
rs2143918476
|
|
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.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
NM_000152.5(GAA):c.2220G>A (p.Val740=)
|
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
NM_000152.5(GAA):c.2223C>T (p.Asp741=)
|
rs767773929
|
|
NM_000152.5(GAA):c.2226C>T (p.His742=)
|
|
|
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.2229G>A (p.Gln743=)
|
rs2143918741
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
|
|
|
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>C (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>T (p.Leu745=)
|
|
|
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.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.2238G>T (p.Trp746Cys)
|
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
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.2244G>A (p.Glu748=)
|
|
|
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
|
|
|
NM_000152.5(GAA):c.2248C>T (p.Leu750=)
|
rs2143919200
|
|
NM_000152.5(GAA):c.224C>G (p.Pro75Arg)
|
rs1555598675
|
|
NM_000152.5(GAA):c.2261dup (p.Val755fs)
|
rs1555602648
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
|
rs746873847
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
|
rs760063214
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2289G>C (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
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.229G>T (p.Ala77Ser)
|
rs781365881
|
|
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.2304C>G (p.Pro768=)
|
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs)
|
rs2143920189
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2314del (p.Trp772fs)
|
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
|
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
|
|
|
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
|
rs2143920372
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2331+12G>A
|
|
|
NM_000152.5(GAA):c.2331+12G>C
|
|
|
NM_000152.5(GAA):c.2331+12G>T
|
|
|
NM_000152.5(GAA):c.2331+14C>T
|
rs772727792
|
|
NM_000152.5(GAA):c.2331+17del
|
|
|
NM_000152.5(GAA):c.2331+19dup
|
|
|
NM_000152.5(GAA):c.2331+1G>A
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
NM_000152.5(GAA):c.2331+20G>T
|
|
|
NM_000152.5(GAA):c.2331+48C>A
|
rs2143921034
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
NM_000152.5(GAA):c.2331+7C>G
|
|
|
NM_000152.5(GAA):c.2332-12A>G
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
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.2332-5T>G
|
rs1276069832
|
|
NM_000152.5(GAA):c.2332-7C>A
|
|
|
NM_000152.5(GAA):c.2332-7C>T
|
|
|
NM_000152.5(GAA):c.2332-8C>T
|
rs2143924023
|
|
NM_000152.5(GAA):c.2332-9T>C
|
|
|
NM_000152.5(GAA):c.2337A>G (p.Pro779=)
|
rs1042838087
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
|
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
|
rs2143924314
|
|
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
|
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
|
rs1012503581
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
|
|
|
NM_000152.5(GAA):c.237C>T (p.Pro79=)
|
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
NM_000152.5(GAA):c.2380del (p.Arg794fs)
|
rs2143924649
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2385G>A (p.Glu795=)
|
rs1333952509
|
|
NM_000152.5(GAA):c.2385del (p.Glu795fs)
|
rs2143924790
|
|
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
|
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
|
|
|
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
|
rs2143924963
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
|
rs778506693
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)
|
rs2143925134
|
|
NM_000152.5(GAA):c.2415G>T (p.Val805=)
|
rs150536507
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
NM_000152.5(GAA):c.2418G>T (p.Thr806=)
|
rs371528938
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.2427C>T (p.Ala809=)
|
rs766325117
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
NM_000152.5(GAA):c.242del (p.Gln81fs)
|
|
|
NM_000152.5(GAA):c.2430C>G (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
NM_000152.5(GAA):c.2431dup (p.Leu811fs)
|
rs2143925402
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)
|
rs1433117170
|
|
NM_000152.5(GAA):c.2439C>A (p.Thr813=)
|
|
|
NM_000152.5(GAA):c.2439C>T (p.Thr813=)
|
rs2143925559
|
|
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
|
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)
|
rs374687883
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
|
rs2039389205
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
|
|
|
NM_000152.5(GAA):c.246C>A (p.Cys82Ter)
|
rs749584846
|
|
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs)
|
rs2143926009
|
|
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
|
|
|
NM_000152.5(GAA):c.2472C>T (p.Ile824=)
|
rs2039389492
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
|
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
NM_000152.5(GAA):c.2481+10C>A
|
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
NM_000152.5(GAA):c.2481+1G>T
|
|
|
NM_000152.5(GAA):c.2481+20A>G
|
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
NM_000152.5(GAA):c.2481+7G>A
|
rs770240317
|
|
NM_000152.5(GAA):c.2481+8G>T
|
|
|
NM_000152.5(GAA):c.2482-12T>C
|
|
|
NM_000152.5(GAA):c.2482-16G>A
|
|
|
NM_000152.5(GAA):c.2482-17T>C
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
NM_000152.5(GAA):c.2482-8C>A
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>G
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>T
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-9C>A
|
|
|
NM_000152.5(GAA):c.2482-9C>T
|
rs753210535
|
|
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
|
|
|
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
|
rs2143929451
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
NM_000152.5(GAA):c.24C>T (p.Cys8=)
|
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
|
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
|
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
|
rs1054395487
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
|
rs2039403061
|
|
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
|
|
|
NM_000152.5(GAA):c.252C>A (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.252C>T (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.2539C>T (p.Leu847=)
|
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
|
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
|
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
|
|
|
NM_000152.5(GAA):c.2550T>G (p.Gly850=)
|
rs761608706
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
|
rs1042397
|
|
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
|
rs2143930088
|
|
NM_000152.5(GAA):c.255C>G (p.Pro85=)
|
rs1448106804
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
NM_000152.5(GAA):c.2571G>A (p.Leu857=)
|
|
|
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
|
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
|
|
|
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg)
|
rs1555603113
|
|
NM_000152.5(GAA):c.258C>G (p.Pro86=)
|
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2593C>T (p.Leu865=)
|
rs2143930457
|
|
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
|
rs2143930470
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
NM_000152.5(GAA):c.2598A>G (p.Glu866=)
|
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
|
rs772250523
|
|
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
|
rs780321415
|
|
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
|
|
|
NM_000152.5(GAA):c.2617dup (p.Tyr873fs)
|
rs1555603131
|
|
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)
|
rs2143930800
|
|
NM_000152.5(GAA):c.2625G>A (p.Gln875=)
|
rs2039406110
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
|
rs1160268139
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
NM_000152.5(GAA):c.2646+12G>A
|
|
|
NM_000152.5(GAA):c.2646+19C>T
|
|
|
NM_000152.5(GAA):c.2646+1G>A
|
rs2143931061
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2646+2T>G
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
NM_000152.5(GAA):c.2646+7C>G
|
rs2143931099
|
|
NM_000152.5(GAA):c.2646+7C>T
|
|
|
NM_000152.5(GAA):c.2646+8C>T
|
|
|
NM_000152.5(GAA):c.2646+8del
|
rs2039406901
|
|
NM_000152.5(GAA):c.2646+9T>C
|
rs1231487778
|
|
NM_000152.5(GAA):c.2647-10C>T
|
rs2143933140
|
|
NM_000152.5(GAA):c.2647-11G>C
|
rs2039413131
|
|
NM_000152.5(GAA):c.2647-12T>C
|
|
|
NM_000152.5(GAA):c.2647-12dup
|
|
|
NM_000152.5(GAA):c.2647-14T>A
|
|
|
NM_000152.5(GAA):c.2647-15C>G
|
rs1567840763
|
|
NM_000152.5(GAA):c.2647-17C>G
|
|
|
NM_000152.5(GAA):c.2647-1_2648del
|
rs1555603216
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.2647-25_2647-18del
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
NM_000152.5(GAA):c.2647-4C>T
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.2647-7G>C
|
|
|
NM_000152.5(GAA):c.2647-7G>T
|
|
|
NM_000152.5(GAA):c.2647-8C>G
|
rs139201641
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2655C>A (p.Ile885=)
|
rs774840779
|
|
NM_000152.5(GAA):c.2655_2656del (p.Val886fs)
|
rs1555603219
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
NM_000152.5(GAA):c.2658G>T (p.Val886=)
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
|
rs750939444
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
|
|
|
NM_000152.5(GAA):c.2676G>A (p.Val892=)
|
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
NM_000152.5(GAA):c.267C>T (p.Arg89=)
|
rs2039036067
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
|
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
|
rs2143933626
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)
|
|
|
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
|
|
|
NM_000152.5(GAA):c.2703G>A (p.Leu901=)
|
rs2143933710
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)
|
rs1057516189
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
NM_000152.5(GAA):c.2706G>A (p.Gln902=)
|
rs2039415234
|
|
NM_000152.5(GAA):c.2707_2709del (p.Lys903del)
|
rs121907939
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
NM_000152.5(GAA):c.2718C>T (p.Val906=)
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
|
rs2143933909
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
NM_000152.5(GAA):c.2730C>A (p.Ala910=)
|
rs2143934007
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
|
|
|
NM_000152.5(GAA):c.2734del (p.Ala912fs)
|
|
|
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
|
|
|
NM_000152.5(GAA):c.2739C>T (p.Pro913=)
|
rs370765733
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.2740dup (p.Gln914fs)
|
rs745427943
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro)
|
rs1555603272
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
NM_000152.5(GAA):c.2746G>T (p.Val916Phe)
|
rs1221948995
|
|
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
|
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
NM_000152.5(GAA):c.2754C>A (p.Ser918=)
|
rs1598594382
|
|
NM_000152.5(GAA):c.2757del (p.Asn919fs)
|
rs1555603283
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
NM_000152.5(GAA):c.2766T>C (p.Pro922=)
|
rs2143934535
|
|
NM_000152.5(GAA):c.2769C>A (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.2769C>T (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2772C>G (p.Ser924=)
|
|
|
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
|
rs2039417635
|
|
NM_000152.5(GAA):c.2772del (p.Asn925fs)
|
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
|
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
|
rs1439341909
|
|
NM_000152.5(GAA):c.2796C>T (p.Thr932=)
|
rs2143934830
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000152.5(GAA):c.2799+10C>G
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+10C>T
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+12C>T
|
|
|
NM_000152.5(GAA):c.2799+13A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>G
|
|
|
NM_000152.5(GAA):c.2799+16G>A
|
|
|
NM_000152.5(GAA):c.2799+17T>C
|
|
|
NM_000152.5(GAA):c.2799+18G>A
|
rs779034370
|
|
NM_000152.5(GAA):c.2799+18G>T
|
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
NM_000152.5(GAA):c.2799+5G>A
|
|
|
NM_000152.5(GAA):c.2800-10T>C
|
rs2143938123
|
|
NM_000152.5(GAA):c.2800-11C>T
|
|
|
NM_000152.5(GAA):c.2800-13del
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-16G>A
|
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
NM_000152.5(GAA):c.2800-20T>A
|
|
|
NM_000152.5(GAA):c.2800-6T>C
|
rs2143938183
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2800-9C>T
|
|
|
NM_000152.5(GAA):c.2811C>G (p.Ile937Met)
|
rs2039429760
|
|
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet)
|
rs1555603411
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.2817C>T (p.Val939=)
|
rs2143938445
|
|
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
|
|
|
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2824T>C (p.Leu942=)
|
rs780885711
|
|
NM_000152.5(GAA):c.2826G>A (p.Leu942=)
|
rs866970316
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
NM_000152.5(GAA):c.282T>C (p.Pro94=)
|
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
|
|
|
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
|
|
|
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)
|
rs1555603436
|
|
NM_000152.5(GAA):c.2853del (p.Trp951fs)
|
rs1555603434
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp)
|
rs958648168
|
|
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
|
|
|
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr)
|
rs1334316018
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
NM_000152.5(GAA):c.2T>C (p.Met1Thr)
|
rs2039024047
|
|
NM_000152.5(GAA):c.300G>A (p.Gln100=)
|
rs2143827134
|
|
NM_000152.5(GAA):c.303A>G (p.Glu101=)
|
rs2143827161
|
|
NM_000152.5(GAA):c.304C>T (p.Gln102Ter)
|
rs1432841878
|
|
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.309C>A (p.Cys103Ter)
|
rs373307393
|
|
NM_000152.5(GAA):c.309C>G (p.Cys103Trp)
|
rs373307393
|
|
NM_000152.5(GAA):c.30C>T (p.His10=)
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
NM_000152.5(GAA):c.318C>A (p.Arg106=)
|
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
|
rs2039038743
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
|
|
|
NM_000152.5(GAA):c.333C>T (p.Ile111=)
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
NM_000152.5(GAA):c.348G>T (p.Gly116=)
|
rs2143827789
|
|
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800
|
|
NM_000152.5(GAA):c.354G>A (p.Gln118=)
|
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
NM_000152.5(GAA):c.357A>C (p.Gly119=)
|
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
NM_000152.5(GAA):c.376del (p.Trp126fs)
|
rs1555598824
|
|
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
|
rs1011631903
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
NM_000152.5(GAA):c.381C>T (p.Cys127=)
|
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])
|
rs1555598846
|
|
NM_000152.5(GAA):c.393C>G (p.Pro131=)
|
rs769276948
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter)
|
rs2039042313
|
|
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
|
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
NM_000152.5(GAA):c.40_47del (p.Ala14fs)
|
|
|
NM_000152.5(GAA):c.411G>A (p.Lys137=)
|
|
|
NM_000152.5(GAA):c.414G>A (p.Leu138=)
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
NM_000152.5(GAA):c.421C>A (p.Leu141Met)
|
rs1379595858
|
|
NM_000152.5(GAA):c.423G>A (p.Leu141=)
|
|
|
NM_000152.5(GAA):c.423G>T (p.Leu141=)
|
rs2143828533
|
|
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
|
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
NM_000152.5(GAA):c.42C>T (p.Ala14=)
|
rs141377453
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)
|
rs886043112
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
NM_000152.5(GAA):c.448dup (p.Ala150fs)
|
rs1555598880
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
NM_000152.5(GAA):c.456G>C (p.Leu152=)
|
rs1477781307
|
|
NM_000152.5(GAA):c.456_457dup (p.Thr153fs)
|
rs2143829023
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
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.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
NM_000152.5(GAA):c.468C>G (p.Thr156=)
|
rs145849611
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.480C>T (p.Phe160=)
|
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
NM_000152.5(GAA):c.498C>T (p.Thr166=)
|
|
|
NM_000152.5(GAA):c.499C>T (p.Leu167=)
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.501G>A (p.Leu167=)
|
rs1276415397
|
|
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=)
|
rs2143829361
|
|
NM_000152.5(GAA):c.502C>A (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
NM_000152.5(GAA):c.504G>T (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
NM_000152.5(GAA):c.513G>C (p.Val171=)
|
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
|
|
|
NM_000152.5(GAA):c.522G>A (p.Glu174=)
|
|
|
NM_000152.5(GAA):c.525T>C (p.Thr175=)
|
rs2039047153
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.528_529del (p.Asn177fs)
|
rs2143829649
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.534C>G (p.Arg178=)
|
rs765613378
|
|
NM_000152.5(GAA):c.543C>T (p.Phe181=)
|
rs1567826499
|
|
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.546+10G>A
|
|
|
NM_000152.5(GAA):c.546+12_546+17del
|
rs1567826548
|
|
NM_000152.5(GAA):c.546+12_546+17dup
|
|
|
NM_000152.5(GAA):c.546+13GGGGCG[3]
|
|
|
NM_000152.5(GAA):c.546+16G>A
|
|
|
NM_000152.5(GAA):c.546+16G>C
|
rs1043184942
|
|
NM_000152.5(GAA):c.546+16G>T
|
|
|
NM_000152.5(GAA):c.546+20G>A
|
|
|
NM_000152.5(GAA):c.546+20_546+25del
|
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
NM_000152.5(GAA):c.546+3GGGCA[3]
|
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546+7A>G
|
rs1329049814
|
|
NM_000152.5(GAA):c.546+7_546+12del
|
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
NM_000152.5(GAA):c.546+9G>A
|
rs2143829950
|
|
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.547-15C>T
|
|
|
NM_000152.5(GAA):c.547-16C>G
|
|
|
NM_000152.5(GAA):c.547-1G>C
|
rs2143833579
|
|
NM_000152.5(GAA):c.547-4C>A
|
rs3816256
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
NM_000152.5(GAA):c.547-9C>T
|
rs746507322
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
NM_000152.5(GAA):c.54C>G (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.552A>G (p.Lys184=)
|
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
NM_000152.5(GAA):c.55del (p.Val19fs)
|
rs1555598544
|
|
NM_000152.5(GAA):c.561T>A (p.Ala187=)
|
|
|
NM_000152.5(GAA):c.564C>T (p.Asn188=)
|
rs2039068461
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
NM_000152.5(GAA):c.567G>A (p.Arg189=)
|
|
|
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.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
NM_000152.5(GAA):c.579G>A (p.Val193=)
|
rs764299738
|
|
NM_000152.5(GAA):c.583T>C (p.Leu195=)
|
rs1323831512
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
|
|
|
NM_000152.5(GAA):c.587del (p.Glu196fs)
|
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
NM_000152.5(GAA):c.594G>C (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.594G>T (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
NM_000152.5(GAA):c.609G>T (p.Arg203=)
|
|
|
NM_000152.5(GAA):c.612A>G (p.Ala204=)
|
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
NM_000152.5(GAA):c.618C>A (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.618C>G (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
NM_000152.5(GAA):c.621A>C (p.Pro207=)
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
NM_000152.5(GAA):c.624C>G (p.Leu208=)
|
rs2143834295
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
|
rs1460607546
|
|
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del)
|
rs1555599099
|
|
NM_000152.5(GAA):c.633G>A (p.Val211=)
|
rs2143834416
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
NM_000152.5(GAA):c.639C>T (p.Phe213=)
|
rs2143834450
|
|
NM_000152.5(GAA):c.639del (p.Ser214fs)
|
rs2143834462
|
|
NM_000152.5(GAA):c.642C>A (p.Ser214=)
|
rs1800301
|
|
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
|
rs201286896
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
NM_000152.5(GAA):c.651C>A (p.Pro217=)
|
rs2039072589
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
NM_000152.5(GAA):c.657G>A (p.Gly219=)
|
rs2039072905
|
|
NM_000152.5(GAA):c.658dup (p.Val220fs)
|
rs2143834640
|
|
NM_000152.5(GAA):c.663C>A (p.Ile221=)
|
rs142878958
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
NM_000152.5(GAA):c.666G>A (p.Val222=)
|
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
|
rs200210219
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
NM_000152.5(GAA):c.678G>T (p.Leu226=)
|
|
|
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr)
|
rs1477774826
|
|
NM_000152.5(GAA):c.683dup (p.Arg229fs)
|
rs2143834983
|
|
NM_000152.5(GAA):c.684C>T (p.Gly228=)
|
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
|
rs2039027538
|
|
NM_000152.5(GAA):c.692+11G>C
|
|
|
NM_000152.5(GAA):c.692+12G>A
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+12G>T
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+17G>A
|
|
|
NM_000152.5(GAA):c.692+1G>A
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>C
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>T
|
|
|
NM_000152.5(GAA):c.692+20C>T
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.692+8C>G
|
|
|
NM_000152.5(GAA):c.693-10T>C
|
rs2143845612
|
|
NM_000152.5(GAA):c.693-11C>G
|
|
|
NM_000152.5(GAA):c.693-13C>T
|
rs760379754
|
|
NM_000152.5(GAA):c.693-14C>T
|
|
|
NM_000152.5(GAA):c.693-15G>A
|
|
|
NM_000152.5(GAA):c.693-19G>C
|
rs1271276827
|
|
NM_000152.5(GAA):c.693-19G>T
|
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
NM_000152.5(GAA):c.693-20G>A
|
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
NM_000152.5(GAA):c.693-4G>A
|
rs200088236
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
NM_000152.5(GAA):c.693-5del
|
rs1555599563
|
|
NM_000152.5(GAA):c.693-6C>G
|
|
|
NM_000152.5(GAA):c.693-6C>T
|
rs2143845646
|
|
NM_000152.5(GAA):c.693-7C>T
|
|
|
NM_000152.5(GAA):c.693-9G>C
|
|
|
NM_000152.5(GAA):c.69C>A (p.Thr23=)
|
rs746351336
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
NM_000152.5(GAA):c.708G>A (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.708G>T (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.711G>C (p.Ala237=)
|
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
NM_000152.5(GAA):c.714C>A (p.Pro238=)
|
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.717G>T (p.Leu239=)
|
|
|
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
|
rs2039116471
|
|
NM_000152.5(GAA):c.723T>C (p.Phe241=)
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.726G>C (p.Ala242=)
|
rs148578399
|
|
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
|
|
|
NM_000152.5(GAA):c.729C>T (p.Asp243=)
|
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
NM_000152.5(GAA):c.735C>T (p.Phe245=)
|
rs1264222457
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
|
|
|
NM_000152.5(GAA):c.741G>A (p.Gln247=)
|
|
|
NM_000152.5(GAA):c.742C>T (p.Leu248=)
|
|
|
NM_000152.5(GAA):c.747C>G (p.Ser249=)
|
|
|
NM_000152.5(GAA):c.747C>T (p.Ser249=)
|
rs1555599614
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
NM_000152.5(GAA):c.753G>A (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.753G>T (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.754C>T (p.Leu252=)
|
rs1598575013
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
NM_000152.5(GAA):c.756G>A (p.Leu252=)
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
NM_000152.5(GAA):c.759C>T (p.Pro253=)
|
rs1352216789
|
|
NM_000152.5(GAA):c.759del (p.Ser254fs)
|
rs2039117815
|
|
NM_000152.5(GAA):c.75A>C (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>G (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>T (p.Ala25=)
|
|
|
NM_000152.5(GAA):c.763C>T (p.Gln255Ter)
|
rs2039118159
|
|
NM_000152.5(GAA):c.765G>A (p.Gln255=)
|
rs1450999199
|
|
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.769A>G (p.Ile257Val)
|
rs199674786
|
|
NM_000152.5(GAA):c.774A>C (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.774A>G (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
NM_000152.5(GAA):c.777C>G (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.777C>T (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
NM_000152.5(GAA):c.783C>A (p.Ala261=)
|
rs757356178
|
|
NM_000152.5(GAA):c.786G>A (p.Glu262=)
|
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
NM_000152.5(GAA):c.789C>T (p.His263=)
|
rs1336545018
|
|
NM_000152.5(GAA):c.78C>T (p.Leu26=)
|
rs2143824668
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
NM_000152.5(GAA):c.792C>G (p.Leu264=)
|
rs2143846838
|
|
NM_000152.5(GAA):c.792C>T (p.Leu264=)
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
NM_000152.5(GAA):c.796C>A (p.Pro266Thr)
|
rs1555599667
|
|
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.799_803delinsA (p.Leu267fs)
|
rs2039120342
|
|
NM_000152.5(GAA):c.79C>T (p.Leu27=)
|
rs538605208
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.807C>G (p.Leu269=)
|
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
NM_000152.5(GAA):c.816C>T (p.Ser272=)
|
rs1405999158
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
NM_000152.5(GAA):c.822C>T (p.Thr274=)
|
|
|
NM_000152.5(GAA):c.827_845del (p.Ile276fs)
|
rs2143847172
|
|
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
NM_000152.5(GAA):c.841C>A (p.Arg281=)
|
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
NM_000152.5(GAA):c.846C>T (p.Asp282=)
|
rs1008936778
|
|
NM_000152.5(GAA):c.849T>C (p.Leu283=)
|
rs2143847519
|
|
NM_000152.5(GAA):c.84G>A (p.Gly28=)
|
rs769733901
|
|
NM_000152.5(GAA):c.84G>C (p.Gly28=)
|
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000152.5(GAA):c.856del (p.Thr286fs)
|
|
|
NM_000152.5(GAA):c.858+10C>A
|
rs758283022
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+11G>A
|
rs1464849313
|
|
NM_000152.5(GAA):c.858+12G>C
|
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+19G>T
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.858+20G>T
|
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
NM_000152.5(GAA):c.858+5_858+11dup
|
rs2039124972
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.858+9G>A
|
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
NM_000152.5(GAA):c.859-14C>G
|
|
|
NM_000152.5(GAA):c.859-14C>T
|
|
|
NM_000152.5(GAA):c.859-16C>A
|
|
|
NM_000152.5(GAA):c.859-18G>C
|
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
NM_000152.5(GAA):c.859-20C>T
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
NM_000152.5(GAA):c.859-4C>G
|
|
|
NM_000152.5(GAA):c.859-4C>T
|
rs749017942
|
|
NM_000152.5(GAA):c.859-5C>T
|
rs2143848848
|
|
NM_000152.5(GAA):c.859-7G>A
|
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
NM_000152.5(GAA):c.859-9A>G
|
rs888669731
|
|
NM_000152.5(GAA):c.861C>G (p.Pro287=)
|
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
NM_000152.5(GAA):c.867G>T (p.Ala289=)
|
rs534515557
|
|
NM_000152.5(GAA):c.870C>T (p.Asn290=)
|
|
|
NM_000152.5(GAA):c.872T>C (p.Leu291Pro)
|
rs2143849151
|
|
NM_000152.5(GAA):c.873C>T (p.Leu291=)
|
rs1598575713
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)
|
rs763216519
|
|
NM_000152.5(GAA):c.879G>A (p.Gly293=)
|
rs2143849260
|
|
NM_000152.5(GAA):c.87C>T (p.His29=)
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
|
|
|
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
|
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.897G>C (p.Leu299=)
|
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
NM_000152.5(GAA):c.900G>C (p.Ala300=)
|
|
|
NM_000152.5(GAA):c.900G>T (p.Ala300=)
|
rs759425304
|
|
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
|
NM_000152.5(GAA):c.915G>T (p.Gly305=)
|
|
|
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
|
NM_000152.5(GAA):c.91C>T (p.Leu31=)
|
rs1295278849
|
|
NM_000152.5(GAA):c.921A>C (p.Ala307=)
|
rs1800303
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
NM_000152.5(GAA):c.923A>C (p.His308Pro)
|
rs2143849751
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
|
|
|
NM_000152.5(GAA):c.927G>T (p.Gly309=)
|
rs886043779
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
NM_000152.5(GAA):c.930G>A (p.Val310=)
|
rs2143849884
|
|
NM_000152.5(GAA):c.930del (p.Phe311fs)
|
|
|
NM_000152.5(GAA):c.934C>T (p.Leu312=)
|
|
|
NM_000152.5(GAA):c.934del (p.Leu312fs)
|
rs886042358
|
|
NM_000152.5(GAA):c.935del (p.Leu312fs)
|
|
|
NM_000152.5(GAA):c.936G>A (p.Leu312=)
|
rs1456154347
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
NM_000152.5(GAA):c.942C>T (p.Asn314=)
|
rs2143850004
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
NM_000152.5(GAA):c.955+10C>A
|
rs2143850207
|
|
NM_000152.5(GAA):c.955+11C>G
|
|
|
NM_000152.5(GAA):c.955+11C>T
|
|
|
NM_000152.5(GAA):c.955+12_955+18del
|
|
|
NM_000152.5(GAA):c.955+13C>T
|
|
|
NM_000152.5(GAA):c.955+14C>T
|
rs756921041
|
|
NM_000152.5(GAA):c.955+17C>T
|
rs2143850296
|
|
NM_000152.5(GAA):c.955+18C>T
|
|
|
NM_000152.5(GAA):c.955+19A>G
|
|
|
NM_000152.5(GAA):c.955+1G>A
|
rs1403691329
|
|
NM_000152.5(GAA):c.955+20G>C
|
|
|
NM_000152.5(GAA):c.955+43G>C
|
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
NM_000152.5(GAA):c.955+9C>T
|
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
NM_000152.5(GAA):c.956-11T>C
|
rs2143852431
|
|
NM_000152.5(GAA):c.956-13G>T
|
|
|
NM_000152.5(GAA):c.956-17A>T
|
rs2039141211
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
NM_000152.5(GAA):c.956-4C>T
|
rs2143852512
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
NM_000152.5(GAA):c.956-7C>G
|
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
NM_000152.5(GAA):c.956-8C>T
|
rs369149976
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
NM_000152.5(GAA):c.966G>A (p.Leu322=)
|
rs1197362128
|
|
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
|
|
|
NM_000152.5(GAA):c.96C>G (p.Leu32=)
|
rs1598569164
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
NM_000152.5(GAA):c.971dup (p.Ser325fs)
|
rs2143852733
|
|
NM_000152.5(GAA):c.972G>C (p.Pro324=)
|
rs763445243
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|
NM_000152.5(GAA):c.996G>T (p.Ser332=)
|
rs779266179
|
|
NM_000152.5(GAA):c.999A>G (p.Thr333=)
|
rs1598576668
|
|
NM_000152.5(GAA):c.[2228A>G;2237G>C]
|
|
|
NM_000152.5(GAA):c.[752C>T;761C>T]
|
|
|