NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)
|
rs73040625
|
0.05426
|
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=)
|
rs56179521
|
0.03852
|
NM_144670.6(A2ML1):c.1538-212_1538-208del
|
rs1565475723
|
0.01889
|
NM_144670.6(A2ML1):c.1834-202G>A
|
rs7138661
|
0.01661
|
NM_144670.6(A2ML1):c.1538-198del
|
rs1565475803
|
0.01532
|
NM_144670.6(A2ML1):c.2234+199T>C
|
rs7957548
|
0.01327
|
NM_144670.6(A2ML1):c.4222-318C>T
|
rs139876021
|
0.01214
|
NM_144670.6(A2ML1):c.462+139G>A
|
rs75265748
|
0.01209
|
NM_144670.6(A2ML1):c.2848+40G>T
|
rs79250113
|
0.01068
|
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val)
|
rs61741216
|
0.00991
|
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile)
|
rs61734941
|
0.00911
|
NM_144670.6(A2ML1):c.1684-315C>G
|
rs763985998
|
0.00900
|
NM_144670.6(A2ML1):c.1538-208_1538-188del
|
rs745849727
|
0.00838
|
NM_144670.6(A2ML1):c.462+190G>A
|
rs186047245
|
0.00803
|
NM_144670.6(A2ML1):c.246+139A>G
|
rs79649806
|
0.00796
|
NM_144670.6(A2ML1):c.4061+80T>G
|
rs79855890
|
0.00787
|
NM_144670.6(A2ML1):c.2590+116T>C
|
rs112238175
|
0.00762
|
NM_144670.6(A2ML1):c.1538-193del
|
rs376508255
|
0.00735
|
NM_144670.6(A2ML1):c.643+189T>A
|
rs142881050
|
0.00694
|
NM_144670.6(A2ML1):c.484-179A>T
|
rs73037002
|
0.00685
|
NM_144670.6(A2ML1):c.484-181T>C
|
rs73037001
|
0.00643
|
NM_144670.6(A2ML1):c.1538-193_1538-188del
|
rs1565475837
|
0.00637
|
NM_144670.6(A2ML1):c.644-206G>T
|
rs73038703
|
0.00619
|
NM_144670.6(A2ML1):c.246+149A>G
|
rs141691361
|
0.00585
|
NM_144670.6(A2ML1):c.1249-305A>C
|
rs146519959
|
0.00578
|
NM_144670.6(A2ML1):c.2765-299G>T
|
rs113636807
|
0.00570
|
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile)
|
rs61746590
|
0.00552
|
NM_144670.6(A2ML1):c.855+212G>T
|
rs111993047
|
0.00526
|
NM_144670.6(A2ML1):c.728+206G>A
|
rs113230784
|
0.00522
|
NM_144670.6(A2ML1):c.3252C>T (p.His1084=)
|
rs61745125
|
0.00490
|
NM_144670.6(A2ML1):c.2119+56T>C
|
rs115248347
|
0.00441
|
NM_144670.6(A2ML1):c.2849-162T>C
|
rs183422479
|
0.00431
|
NM_144670.6(A2ML1):c.*1+12G>A
|
rs115808815
|
0.00398
|
NM_144670.6(A2ML1):c.644-286C>T
|
rs149343106
|
0.00367
|
NM_144670.6(A2ML1):c.4222-348G>A
|
rs184491762
|
0.00362
|
NM_144670.6(A2ML1):c.462+131G>A
|
rs112267835
|
0.00360
|
NM_144670.6(A2ML1):c.462+29G>A
|
rs141350563
|
0.00360
|
NM_144670.6(A2ML1):c.1080+143A>G
|
rs148648085
|
0.00337
|
NM_144670.6(A2ML1):c.1248+29A>T
|
rs139302523
|
0.00334
|
NC_000012.12:g.8822235C>T
|
rs141688347
|
0.00281
|
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=)
|
rs201247776
|
0.00256
|
NM_144670.6(A2ML1):c.1538-208T>A
|
rs781212837
|
0.00230
|
NM_144670.6(A2ML1):c.2029-5A>C
|
rs145965024
|
0.00216
|
NM_144670.6(A2ML1):c.621T>C (p.Gly207=)
|
rs145494834
|
0.00210
|
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg)
|
rs79149293
|
0.00207
|
NM_144670.6(A2ML1):c.855+34G>A
|
rs113013902
|
0.00177
|
NM_144670.6(A2ML1):c.9T>A (p.Ala3=)
|
rs151044194
|
0.00177
|
NM_144670.6(A2ML1):c.196C>T (p.Leu66=)
|
rs185519272
|
0.00172
|
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr)
|
rs150488553
|
0.00158
|
NM_144670.6(A2ML1):c.2590+24G>A
|
rs183811321
|
0.00146
|
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp)
|
rs77431272
|
0.00138
|
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr)
|
rs200763256
|
0.00126
|
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys)
|
rs192221816
|
0.00123
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala)
|
rs200618482
|
0.00080
|
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp)
|
rs200964353
|
0.00080
|
NM_144670.6(A2ML1):c.2027G>A (p.Arg676Gln)
|
rs138301233
|
0.00070
|
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser)
|
rs201478459
|
0.00061
|
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr)
|
rs202179061
|
0.00056
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)
|
rs117213221
|
0.00051
|
NM_144670.6(A2ML1):c.2029-8C>T
|
rs7298954
|
0.00048
|
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile)
|
rs185181365
|
0.00047
|
NM_144670.6(A2ML1):c.105C>T (p.Ser35=)
|
rs201185025
|
0.00046
|
NM_144670.6(A2ML1):c.2120-36T>C
|
rs201335724
|
0.00046
|
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=)
|
rs200462659
|
0.00044
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr)
|
rs184575465
|
0.00042
|
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=)
|
rs200269317
|
0.00041
|
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His)
|
rs200744656
|
0.00041
|
NM_144670.6(A2ML1):c.2862C>G (p.Gly954=)
|
rs535988756
|
0.00039
|
NM_144670.6(A2ML1):c.3869C>A (p.Thr1290Asn)
|
rs199584108
|
0.00039
|
NM_144670.6(A2ML1):c.1780G>A (p.Val594Met)
|
rs201527641
|
0.00038
|
NM_144670.6(A2ML1):c.1477-251A>G
|
rs574103510
|
0.00036
|
NM_144670.6(A2ML1):c.357G>C (p.Gly119=)
|
rs200671971
|
0.00036
|
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=)
|
rs371033800
|
0.00036
|
NM_144670.6(A2ML1):c.63-4A>G
|
rs200007710
|
0.00036
|
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=)
|
rs201562692
|
0.00029
|
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=)
|
rs146213855
|
0.00028
|
NM_144670.6(A2ML1):c.2320A>G (p.Arg774Gly)
|
rs552497055
|
0.00028
|
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp)
|
rs200503836
|
0.00026
|
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala)
|
rs374408168
|
0.00026
|
NM_144670.6(A2ML1):c.712G>A (p.Val238Ile)
|
rs200465216
|
0.00026
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
NM_144670.6(A2ML1):c.728+13G>A
|
rs373095814
|
0.00025
|
NM_144670.6(A2ML1):c.4056C>T (p.His1352=)
|
rs377520682
|
0.00024
|
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=)
|
rs200088686
|
0.00023
|
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys)
|
rs182743597
|
0.00023
|
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln)
|
rs142219499
|
0.00022
|
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr)
|
rs77657214
|
0.00021
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)
|
rs750524549
|
0.00019
|
NM_144670.6(A2ML1):c.693G>A (p.Thr231=)
|
rs199682918
|
0.00019
|
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)
|
rs192888493
|
0.00019
|
NM_144670.6(A2ML1):c.1368C>T (p.His456=)
|
rs200983183
|
0.00018
|
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu)
|
rs201762847
|
0.00017
|
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser)
|
rs753186530
|
0.00016
|
NM_144670.6(A2ML1):c.2625G>T (p.Leu875=)
|
rs375033681
|
0.00016
|
NM_144670.6(A2ML1):c.3096T>C (p.Asn1032=)
|
rs760050266
|
0.00016
|
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile)
|
rs201093464
|
0.00015
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu)
|
rs775011475
|
0.00014
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met)
|
rs199873022
|
0.00013
|
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val)
|
rs762406949
|
0.00012
|
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile)
|
rs201752325
|
0.00012
|
NM_144670.6(A2ML1):c.2484A>G (p.Lys828=)
|
rs375644283
|
0.00012
|
NM_144670.6(A2ML1):c.3503-9T>A
|
rs185487647
|
0.00012
|
NM_144670.6(A2ML1):c.1236C>T (p.Asp412=)
|
rs375780803
|
0.00011
|
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr)
|
rs201363860
|
0.00011
|
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr)
|
rs201950472
|
0.00010
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
NM_144670.6(A2ML1):c.3657T>C (p.Thr1219=)
|
rs369641177
|
0.00009
|
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter)
|
rs182070540
|
0.00009
|
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg)
|
rs201979319
|
0.00009
|
NM_144670.6(A2ML1):c.855+9A>G
|
rs200524501
|
0.00009
|
NM_144670.6(A2ML1):c.1248+12C>T
|
rs370769861
|
0.00008
|
NM_144670.6(A2ML1):c.1377C>T (p.Asn459=)
|
rs374233026
|
0.00008
|
NM_144670.6(A2ML1):c.2328C>T (p.Phe776=)
|
rs368663740
|
0.00008
|
NM_144670.6(A2ML1):c.3821G>A (p.Arg1274His)
|
rs199517408
|
0.00008
|
NM_144670.6(A2ML1):c.921G>A (p.Ala307=)
|
rs372520121
|
0.00008
|
NM_144670.6(A2ML1):c.1477-13T>C
|
rs778863549
|
0.00007
|
NM_144670.6(A2ML1):c.3648G>A (p.Ala1216=)
|
rs376574474
|
0.00007
|
NM_144670.6(A2ML1):c.1284G>A (p.Pro428=)
|
rs753945399
|
0.00006
|
NM_144670.6(A2ML1):c.1746G>A (p.Gln582=)
|
rs767420128
|
0.00006
|
NM_144670.6(A2ML1):c.1770G>A (p.Ala590=)
|
rs373656984
|
0.00006
|
NM_144670.6(A2ML1):c.2241G>A (p.Ser747=)
|
rs770762334
|
0.00006
|
NM_144670.6(A2ML1):c.2274C>T (p.Asp758=)
|
rs762980682
|
0.00006
|
NM_144670.6(A2ML1):c.2441A>G (p.Asn814Ser)
|
rs760788803
|
0.00006
|
NM_144670.6(A2ML1):c.2678G>A (p.Arg893Gln)
|
rs780281065
|
0.00006
|
NM_144670.6(A2ML1):c.2985G>A (p.Thr995=)
|
rs773450242
|
0.00006
|
NM_144670.6(A2ML1):c.3234C>T (p.Asn1078=)
|
rs764790159
|
0.00006
|
NM_144670.6(A2ML1):c.3502+10T>C
|
rs771296293
|
0.00006
|
NM_144670.6(A2ML1):c.3502+16T>G
|
rs763693577
|
0.00006
|
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=)
|
rs747281942
|
0.00006
|
NM_144670.6(A2ML1):c.4061+11_4061+12del
|
rs767089812
|
0.00006
|
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys)
|
rs199919065
|
0.00006
|
NM_144670.6(A2ML1):c.528T>C (p.Pro176=)
|
rs770938725
|
0.00006
|
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met)
|
rs202211381
|
0.00006
|
NM_144670.6(A2ML1):c.971-8C>T
|
rs780868782
|
0.00006
|
NM_144670.6(A2ML1):c.973G>A (p.Val325Met)
|
rs749156731
|
0.00006
|
NM_144670.6(A2ML1):c.201A>G (p.Glu67=)
|
rs371564965
|
0.00005
|
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met)
|
rs755702632
|
0.00005
|
NM_144670.6(A2ML1):c.1218C>T (p.Ser406=)
|
rs747023059
|
0.00004
|
NM_144670.6(A2ML1):c.1287A>G (p.Glu429=)
|
rs755195178
|
0.00004
|
NM_144670.6(A2ML1):c.1440T>C (p.Asp480=)
|
rs764291805
|
0.00004
|
NM_144670.6(A2ML1):c.1476+15C>T
|
rs759159005
|
0.00004
|
NM_144670.6(A2ML1):c.2114T>C (p.Met705Thr)
|
rs748085779
|
0.00004
|
NM_144670.6(A2ML1):c.2259C>T (p.His753=)
|
rs747555996
|
0.00004
|
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)
|
rs769726608
|
0.00004
|
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
|
rs758305694
|
0.00004
|
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val)
|
rs753161669
|
0.00004
|
NM_144670.6(A2ML1):c.3503-11T>C
|
rs949065571
|
0.00004
|
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met)
|
rs201083574
|
0.00004
|
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu)
|
rs190379856
|
0.00004
|
NM_144670.6(A2ML1):c.3965C>A (p.Thr1322Lys)
|
rs768728955
|
0.00004
|
NM_144670.6(A2ML1):c.4062-8G>C
|
rs773509061
|
0.00004
|
NM_144670.6(A2ML1):c.4325-9A>C
|
rs1055879090
|
0.00004
|
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln)
|
rs756640163
|
0.00004
|
NM_144670.6(A2ML1):c.1280A>G (p.Asn427Ser)
|
rs537292419
|
0.00003
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
NM_144670.6(A2ML1):c.1834-12C>A
|
rs771794782
|
0.00003
|
NM_144670.6(A2ML1):c.1869C>T (p.Tyr623=)
|
rs1332088491
|
0.00003
|
NM_144670.6(A2ML1):c.2120-14C>T
|
rs1428282921
|
0.00003
|
NM_144670.6(A2ML1):c.21A>G (p.Leu7=)
|
rs529431349
|
0.00003
|
NM_144670.6(A2ML1):c.2487G>A (p.Ser829=)
|
rs747051668
|
0.00003
|
NM_144670.6(A2ML1):c.2658G>A (p.Gly886=)
|
rs762588799
|
0.00003
|
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro)
|
rs768785455
|
0.00003
|
NM_144670.6(A2ML1):c.2706C>T (p.Leu902=)
|
rs775309165
|
0.00003
|
NM_144670.6(A2ML1):c.3108-6A>G
|
rs772515643
|
0.00003
|
NM_144670.6(A2ML1):c.3339+20G>A
|
rs758617412
|
0.00003
|
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=)
|
rs773681065
|
0.00003
|
NM_144670.6(A2ML1):c.1041C>T (p.Thr347=)
|
rs760996560
|
0.00002
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
NM_144670.6(A2ML1):c.1477-299G>T
|
rs143808943
|
0.00002
|
NM_144670.6(A2ML1):c.1538-6T>C
|
rs1444764339
|
0.00002
|
NM_144670.6(A2ML1):c.2007G>A (p.Thr669=)
|
rs201446135
|
0.00002
|
NM_144670.6(A2ML1):c.216G>A (p.Lys72=)
|
rs747225412
|
0.00002
|
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr)
|
rs771684169
|
0.00002
|
NM_144670.6(A2ML1):c.2232T>C (p.Ile744=)
|
rs961372102
|
0.00002
|
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=)
|
rs370481255
|
0.00002
|
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
NM_144670.6(A2ML1):c.3503-3T>C
|
rs748270792
|
0.00002
|
NM_144670.6(A2ML1):c.3564G>A (p.Glu1188=)
|
rs1039987688
|
0.00002
|
NM_144670.6(A2ML1):c.3576A>G (p.Val1192=)
|
rs771118520
|
0.00002
|
NM_144670.6(A2ML1):c.3685C>T (p.His1229Tyr)
|
rs764222230
|
0.00002
|
NM_144670.6(A2ML1):c.3933+4A>G
|
rs779680238
|
0.00002
|
NM_144670.6(A2ML1):c.3993G>A (p.Val1331=)
|
rs762194080
|
0.00002
|
NM_144670.6(A2ML1):c.4023G>A (p.Pro1341=)
|
rs751414888
|
0.00002
|
NM_144670.6(A2ML1):c.644-5T>C
|
rs769537819
|
0.00002
|
NM_144670.6(A2ML1):c.856-19T>C
|
rs117140170
|
0.00002
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
NM_144670.6(A2ML1):c.972T>G (p.Gly324=)
|
rs779838500
|
0.00002
|
NM_144670.6(A2ML1):c.1047T>C (p.Asn349=)
|
rs1248117477
|
0.00001
|
NM_144670.6(A2ML1):c.1068C>T (p.Pro356=)
|
rs1290413093
|
0.00001
|
NM_144670.6(A2ML1):c.1081-19A>G
|
rs766986325
|
0.00001
|
NM_144670.6(A2ML1):c.1248+7A>G
|
rs765019682
|
0.00001
|
NM_144670.6(A2ML1):c.1249-35C>T
|
rs370213211
|
0.00001
|
NM_144670.6(A2ML1):c.1251A>G (p.Gly417=)
|
rs1449298217
|
0.00001
|
NM_144670.6(A2ML1):c.1395C>G (p.Gly465=)
|
rs1943552986
|
0.00001
|
NM_144670.6(A2ML1):c.1428C>T (p.Ile476=)
|
rs770884018
|
0.00001
|
NM_144670.6(A2ML1):c.1437C>T (p.Ala479=)
|
rs1395985225
|
0.00001
|
NM_144670.6(A2ML1):c.1538-13T>A
|
rs765050311
|
0.00001
|
NM_144670.6(A2ML1):c.1538-7C>G
|
rs377064864
|
0.00001
|
NM_144670.6(A2ML1):c.1575T>C (p.Thr525=)
|
rs369031167
|
0.00001
|
NM_144670.6(A2ML1):c.1677C>T (p.Asp559=)
|
rs762982600
|
0.00001
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
NM_144670.6(A2ML1):c.1684-10C>T
|
rs369357941
|
0.00001
|
NM_144670.6(A2ML1):c.1704C>G (p.Pro568=)
|
rs780752277
|
0.00001
|
NM_144670.6(A2ML1):c.1755C>T (p.Pro585=)
|
rs760716902
|
0.00001
|
NM_144670.6(A2ML1):c.1812C>T (p.Asp604=)
|
rs1182071876
|
0.00001
|
NM_144670.6(A2ML1):c.1881G>T (p.Val627=)
|
rs371987177
|
0.00001
|
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met)
|
rs745912214
|
0.00001
|
NM_144670.6(A2ML1):c.2103C>T (p.Tyr701=)
|
rs370270345
|
0.00001
|
NM_144670.6(A2ML1):c.2119+9C>T
|
rs1428382436
|
0.00001
|
NM_144670.6(A2ML1):c.2133T>C (p.His711=)
|
rs778103992
|
0.00001
|
NM_144670.6(A2ML1):c.2142T>C (p.Ala714=)
|
rs781494872
|
0.00001
|
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly)
|
rs770357451
|
0.00001
|
NM_144670.6(A2ML1):c.2253G>A (p.Ala751=)
|
rs375611706
|
0.00001
|
NM_144670.6(A2ML1):c.231T>C (p.His77=)
|
rs781346154
|
0.00001
|
NM_144670.6(A2ML1):c.2409G>A (p.Gly803=)
|
rs367617839
|
0.00001
|
NM_144670.6(A2ML1):c.2451G>A (p.Lys817=)
|
rs1320170708
|
0.00001
|
NM_144670.6(A2ML1):c.2464-4G>A
|
rs200188816
|
0.00001
|
NM_144670.6(A2ML1):c.2469G>A (p.Gln823=)
|
rs754731948
|
0.00001
|
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=)
|
rs188045880
|
0.00001
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
0.00001
|
NM_144670.6(A2ML1):c.2713-4G>A
|
rs374927933
|
0.00001
|
NM_144670.6(A2ML1):c.2765-16T>C
|
rs769910451
|
0.00001
|
NM_144670.6(A2ML1):c.2765-7C>G
|
rs775617268
|
0.00001
|
NM_144670.6(A2ML1):c.2809A>G (p.Ile937Val)
|
rs866812216
|
0.00001
|
NM_144670.6(A2ML1):c.2820C>T (p.Asp940=)
|
rs1467804846
|
0.00001
|
NM_144670.6(A2ML1):c.2849-10T>C
|
rs774394683
|
0.00001
|
NM_144670.6(A2ML1):c.288C>A (p.Ile96=)
|
rs929958326
|
0.00001
|
NM_144670.6(A2ML1):c.2900C>T (p.Pro967Leu)
|
rs202194008
|
0.00001
|
NM_144670.6(A2ML1):c.2916G>A (p.Glu972=)
|
rs1013263641
|
0.00001
|
NM_144670.6(A2ML1):c.2976G>T (p.Gly992=)
|
rs1944100639
|
0.00001
|
NM_144670.6(A2ML1):c.297G>A (p.Ser99=)
|
rs759863656
|
0.00001
|
NM_144670.6(A2ML1):c.3042G>A (p.Leu1014=)
|
rs757380603
|
0.00001
|
NM_144670.6(A2ML1):c.3108-8C>T
|
rs748688899
|
0.00001
|
NM_144670.6(A2ML1):c.3117G>A (p.Ala1039=)
|
rs370178808
|
0.00001
|
NM_144670.6(A2ML1):c.3228T>C (p.Tyr1076=)
|
rs1361524724
|
0.00001
|
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe)
|
rs371934378
|
0.00001
|
NM_144670.6(A2ML1):c.3340-14T>C
|
rs757329653
|
0.00001
|
NM_144670.6(A2ML1):c.3418T>C (p.Leu1140=)
|
rs1243472626
|
0.00001
|
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met)
|
rs868320081
|
0.00001
|
NM_144670.6(A2ML1):c.3546C>T (p.Asn1182=)
|
rs760309585
|
0.00001
|
NM_144670.6(A2ML1):c.3600A>G (p.Ala1200=)
|
rs1239405353
|
0.00001
|
NM_144670.6(A2ML1):c.3718-10T>A
|
rs1352265434
|
0.00001
|
NM_144670.6(A2ML1):c.3897G>A (p.Thr1299=)
|
rs1057523927
|
0.00001
|
NM_144670.6(A2ML1):c.3933+14C>T
|
rs200874703
|
0.00001
|
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=)
|
rs375784426
|
0.00001
|
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)
|
rs1052149878
|
0.00001
|
NM_144670.6(A2ML1):c.4025C>T (p.Thr1342Ile)
|
rs753841404
|
0.00001
|
NM_144670.6(A2ML1):c.4038C>T (p.Ser1346=)
|
rs780163283
|
0.00001
|
NM_144670.6(A2ML1):c.4061+16G>T
|
rs200962359
|
0.00001
|
NM_144670.6(A2ML1):c.409+12A>G
|
rs1304092038
|
0.00001
|
NM_144670.6(A2ML1):c.4158C>G (p.Leu1386=)
|
rs752763294
|
0.00001
|
NM_144670.6(A2ML1):c.4221+17C>T
|
rs772852256
|
0.00001
|
NM_144670.6(A2ML1):c.4278C>T (p.Thr1426=)
|
rs764258507
|
0.00001
|
NM_144670.6(A2ML1):c.444C>T (p.Phe148=)
|
rs914336844
|
0.00001
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
NM_144670.6(A2ML1):c.61C>G (p.Pro21Ala)
|
rs749520022
|
0.00001
|
NM_144670.6(A2ML1):c.63-14T>G
|
rs370199872
|
0.00001
|
NM_144670.6(A2ML1):c.651G>A (p.Pro217=)
|
rs761197510
|
0.00001
|
NM_144670.6(A2ML1):c.738T>C (p.Tyr246=)
|
rs917047914
|
0.00001
|
NM_144670.6(A2ML1):c.906C>T (p.Asp302=)
|
rs1943356243
|
0.00001
|
NM_144670.6(A2ML1):c.942T>C (p.Ile314=)
|
rs757883065
|
0.00001
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter)
|
rs1007463257
|
0.00001
|
NM_144670.6(A2ML1):c.978G>A (p.Glu326=)
|
rs371390076
|
0.00001
|
NM_144670.5(A2ML1):c.-50C>G
|
rs781435396
|
|
NM_144670.6(A2ML1):c.*1+119G>T
|
rs115482939
|
|
NM_144670.6(A2ML1):c.-16T>C
|
rs369625679
|
|
NM_144670.6(A2ML1):c.1002C>T (p.Tyr334=)
|
rs748235206
|
|
NM_144670.6(A2ML1):c.1020A>G (p.Gly340=)
|
rs2136786964
|
|
NM_144670.6(A2ML1):c.1053C>T (p.Tyr351=)
|
rs1592116973
|
|
NM_144670.6(A2ML1):c.1080+16T>C
|
rs1300794467
|
|
NM_144670.6(A2ML1):c.1080+19C>G
|
|
|
NM_144670.6(A2ML1):c.1080+7T>C
|
rs2136787494
|
|
NM_144670.6(A2ML1):c.1081-349_1081-348insCGGA
|
|
|
NM_144670.6(A2ML1):c.1081-352A>C
|
rs11047528
|
|
NM_144670.6(A2ML1):c.1081-355GGAA[4]
|
rs71045214
|
|
NM_144670.6(A2ML1):c.1081-355GGAA[5]
|
rs71045214
|
|
NM_144670.6(A2ML1):c.1081-355GGAA[7]
|
rs71045214
|
|
NM_144670.6(A2ML1):c.1081-356C>A
|
rs2098243
|
|
NM_144670.6(A2ML1):c.1081-356_1081-348delinsAGGAAGGACGGAC
|
rs2136800125
|
|
NM_144670.6(A2ML1):c.1095C>A (p.Gly365=)
|
|
|
NM_144670.6(A2ML1):c.1095C>T (p.Gly365=)
|
|
|
NM_144670.6(A2ML1):c.1098T>C (p.His366=)
|
rs2136803083
|
|
NM_144670.6(A2ML1):c.1128G>A (p.Val376=)
|
|
|
NM_144670.6(A2ML1):c.1137G>A (p.Val379=)
|
|
|
NM_144670.6(A2ML1):c.1179T>C (p.Thr393=)
|
|
|
NM_144670.6(A2ML1):c.1182T>C (p.Asp394=)
|
|
|
NM_144670.6(A2ML1):c.1191C>T (p.Gly397=)
|
rs2136803703
|
|
NM_144670.6(A2ML1):c.1194A>G (p.Leu398=)
|
|
|
NM_144670.6(A2ML1):c.1215A>T (p.Thr405=)
|
rs765903113
|
|
NM_144670.6(A2ML1):c.1248+13G>A
|
|
|
NM_144670.6(A2ML1):c.1248+17G>T
|
rs1943481849
|
|
NM_144670.6(A2ML1):c.1269C>T (p.Asp423=)
|
rs776386210
|
|
NM_144670.6(A2ML1):c.126C>T (p.Asp42=)
|
|
|
NM_144670.6(A2ML1):c.1275A>T (p.Val425=)
|
|
|
NM_144670.6(A2ML1):c.127C>T (p.Leu43=)
|
rs1051881399
|
|
NM_144670.6(A2ML1):c.1296A>G (p.Pro432=)
|
|
|
NM_144670.6(A2ML1):c.129G>C (p.Leu43=)
|
|
|
NM_144670.6(A2ML1):c.1314C>T (p.Ala438=)
|
|
|
NM_144670.6(A2ML1):c.1326G>T (p.Leu442=)
|
|
|
NM_144670.6(A2ML1):c.1356C>T (p.Phe452=)
|
|
|
NM_144670.6(A2ML1):c.1372C>T (p.Leu458=)
|
|
|
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
|
rs757200771
|
|
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp)
|
rs757576013
|
|
NM_144670.6(A2ML1):c.1395C>T (p.Gly465=)
|
|
|
NM_144670.6(A2ML1):c.1434G>A (p.Pro478=)
|
|
|
NM_144670.6(A2ML1):c.1443A>C (p.Ala481=)
|
|
|
NM_144670.6(A2ML1):c.1455A>G (p.Gln485=)
|
|
|
NM_144670.6(A2ML1):c.1476+16G>A
|
rs769801611
|
|
NM_144670.6(A2ML1):c.1476+307G>A
|
rs116469747
|
|
NM_144670.6(A2ML1):c.1476+8C>T
|
rs75676135
|
|
NM_144670.6(A2ML1):c.1477-280A>G
|
|
|
NM_144670.6(A2ML1):c.1499T>A (p.Val500Glu)
|
|
|
NM_144670.6(A2ML1):c.1506G>A (p.Glu502=)
|
|
|
NM_144670.6(A2ML1):c.1537+14C>A
|
|
|
NM_144670.6(A2ML1):c.1537+16T>C
|
|
|
NM_144670.6(A2ML1):c.1537+7G>A
|
|
|
NM_144670.6(A2ML1):c.1538-11T>C
|
rs2136836527
|
|
NM_144670.6(A2ML1):c.1538-203T>A
|
rs1481159356
|
|
NM_144670.6(A2ML1):c.1538-212_1538-184del
|
rs1464911031
|
|
NM_144670.6(A2ML1):c.1538-212_1538-185del
|
rs1435919560
|
|
NM_144670.6(A2ML1):c.1538-217_1538-216insTAAATAAAT
|
rs60340954
|
|
NM_144670.6(A2ML1):c.1542G>C (p.Leu514=)
|
|
|
NM_144670.6(A2ML1):c.1569C>A (p.Thr523=)
|
rs1455152222
|
|
NM_144670.6(A2ML1):c.1578G>A (p.Ser526=)
|
|
|
NM_144670.6(A2ML1):c.159G>A (p.Thr53=)
|
rs767370461
|
|
NM_144670.6(A2ML1):c.159G>T (p.Thr53=)
|
|
|
NM_144670.6(A2ML1):c.1662C>T (p.Val554=)
|
|
|
NM_144670.6(A2ML1):c.1683+13C>T
|
|
|
NM_144670.6(A2ML1):c.1683+14G>A
|
|
|
NM_144670.6(A2ML1):c.1683+270G>T
|
rs116128689
|
|
NM_144670.6(A2ML1):c.1684-11C>T
|
rs1199799846
|
|
NM_144670.6(A2ML1):c.1684-18T>C
|
|
|
NM_144670.6(A2ML1):c.1684-19A>T
|
|
|
NM_144670.6(A2ML1):c.1684-286_1684-285dup
|
rs569093906
|
|
NM_144670.6(A2ML1):c.1684-288_1684-285del
|
rs569093906
|
|
NM_144670.6(A2ML1):c.1689C>T (p.Ser563=)
|
rs1943733778
|
|
NM_144670.6(A2ML1):c.1731G>C (p.Val577=)
|
rs1943736223
|
|
NM_144670.6(A2ML1):c.1735C>T (p.Leu579=)
|
|
|
NM_144670.6(A2ML1):c.1749A>G (p.Ala583=)
|
rs2136849695
|
|
NM_144670.6(A2ML1):c.1758A>G (p.Gly586=)
|
|
|
NM_144670.6(A2ML1):c.1767T>C (p.Cys589=)
|
|
|
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val)
|
rs770246364
|
|
NM_144670.6(A2ML1):c.1770G>C (p.Ala590=)
|
rs373656984
|
|
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.1779G>A (p.Ala593=)
|
|
|
NM_144670.6(A2ML1):c.1782G>A (p.Val594=)
|
|
|
NM_144670.6(A2ML1):c.1824C>T (p.Ser608=)
|
|
|
NM_144670.6(A2ML1):c.1833+12_1833+15del
|
|
|
NM_144670.6(A2ML1):c.1833+305dup
|
rs11312111
|
|
NM_144670.6(A2ML1):c.1834-12C>G
|
|
|
NM_144670.6(A2ML1):c.1834-12C>T
|
rs771794782
|
|
NM_144670.6(A2ML1):c.1834-13C>A
|
|
|
NM_144670.6(A2ML1):c.1872C>A (p.Pro624=)
|
|
|
NM_144670.6(A2ML1):c.1887G>A (p.Glu629=)
|
|
|
NM_144670.6(A2ML1):c.1902A>G (p.Pro634=)
|
rs2136860232
|
|
NM_144670.6(A2ML1):c.1914A>G (p.Pro638=)
|
|
|
NM_144670.6(A2ML1):c.1941C>T (p.Asp647=)
|
|
|
NM_144670.6(A2ML1):c.1962G>C (p.Ser654=)
|
|
|
NM_144670.6(A2ML1):c.1992G>A (p.Ser664=)
|
rs765976469
|
|
NM_144670.6(A2ML1):c.1992G>T (p.Ser664=)
|
|
|
NM_144670.6(A2ML1):c.1998T>C (p.Ser666=)
|
|
|
NM_144670.6(A2ML1):c.2028+14C>T
|
|
|
NM_144670.6(A2ML1):c.2028+16C>T
|
rs1389459708
|
|
NM_144670.6(A2ML1):c.2028+8T>C
|
|
|
NM_144670.6(A2ML1):c.2029-19T>C
|
|
|
NM_144670.6(A2ML1):c.2049G>A (p.Leu683=)
|
|
|
NM_144670.6(A2ML1):c.2079T>C (p.Asp693=)
|
|
|
NM_144670.6(A2ML1):c.2119+22_2119+23del
|
|
|
NM_144670.6(A2ML1):c.2119+22_2119+32del
|
|
|
NM_144670.6(A2ML1):c.2120-19G>A
|
|
|
NM_144670.6(A2ML1):c.2120-20C>T
|
|
|
NM_144670.6(A2ML1):c.2124C>T (p.Gly708=)
|
|
|
NM_144670.6(A2ML1):c.2136A>G (p.Pro712=)
|
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
NM_144670.6(A2ML1):c.2165A>G (p.His722Arg)
|
|
|
NM_144670.6(A2ML1):c.2187C>T (p.Val729=)
|
|
|
NM_144670.6(A2ML1):c.2199C>T (p.Phe733=)
|
rs1943843473
|
|
NM_144670.6(A2ML1):c.2234+12C>T
|
|
|
NM_144670.6(A2ML1):c.2235-18G>A
|
|
|
NM_144670.6(A2ML1):c.2247G>A (p.Lys749=)
|
|
|
NM_144670.6(A2ML1):c.225C>T (p.His75=)
|
|
|
NM_144670.6(A2ML1):c.2268T>A (p.Val756=)
|
rs1313674301
|
|
NM_144670.6(A2ML1):c.2277C>T (p.Ala759=)
|
|
|
NM_144670.6(A2ML1):c.2283C>T (p.Thr761=)
|
|
|
NM_144670.6(A2ML1):c.2301T>C (p.Ser767=)
|
rs1592136589
|
|
NM_144670.6(A2ML1):c.2343T>C (p.Thr781=)
|
rs1324138650
|
|
NM_144670.6(A2ML1):c.240C>T (p.Ser80=)
|
rs79315547
|
|
NM_144670.6(A2ML1):c.2415C>G (p.Ser805=)
|
|
|
NM_144670.6(A2ML1):c.2430C>T (p.Ala810=)
|
|
|
NM_144670.6(A2ML1):c.2439C>T (p.Phe813=)
|
rs2136879942
|
|
NM_144670.6(A2ML1):c.246+8_246+9del
|
rs771893464
|
|
NM_144670.6(A2ML1):c.2463+10G>A
|
rs1592136880
|
|
NM_144670.6(A2ML1):c.2463+7G>A
|
|
|
NM_144670.6(A2ML1):c.2464-5C>T
|
rs1473312242
|
|
NM_144670.6(A2ML1):c.247-12T>C
|
rs1366340701
|
|
NM_144670.6(A2ML1):c.247-6G>C
|
|
|
NM_144670.6(A2ML1):c.2487G>T (p.Ser829=)
|
|
|
NM_144670.6(A2ML1):c.2490T>C (p.His830=)
|
|
|
NM_144670.6(A2ML1):c.2508A>G (p.Ser836=)
|
|
|
NM_144670.6(A2ML1):c.2526C>G (p.Thr842=)
|
|
|
NM_144670.6(A2ML1):c.2587T>C (p.Leu863=)
|
rs746960070
|
|
NM_144670.6(A2ML1):c.2591-11C>A
|
rs1270246192
|
|
NM_144670.6(A2ML1):c.2591-18C>T
|
|
|
NM_144670.6(A2ML1):c.2591-6T>C
|
|
|
NM_144670.6(A2ML1):c.2607T>C (p.Thr869=)
|
|
|
NM_144670.6(A2ML1):c.2623C>T (p.Leu875=)
|
|
|
NM_144670.6(A2ML1):c.2628C>T (p.Asp876=)
|
|
|
NM_144670.6(A2ML1):c.2664T>A (p.Val888=)
|
rs751324491
|
|
NM_144670.6(A2ML1):c.2670A>G (p.Gln890=)
|
rs767309974
|
|
NM_144670.6(A2ML1):c.2688G>A (p.Thr896=)
|
|
|
NM_144670.6(A2ML1):c.2712+16del
|
rs1555113735
|
|
NM_144670.6(A2ML1):c.2713-11C>A
|
|
|
NM_144670.6(A2ML1):c.2724C>T (p.Val908=)
|
|
|
NM_144670.6(A2ML1):c.2730G>A (p.Val910=)
|
rs748749081
|
|
NM_144670.6(A2ML1):c.2742C>T (p.His914=)
|
rs2136898562
|
|
NM_144670.6(A2ML1):c.2748A>T (p.Ser916=)
|
|
|
NM_144670.6(A2ML1):c.2764+20del
|
rs764632191
|
|
NM_144670.6(A2ML1):c.2769G>A (p.Lys923=)
|
|
|
NM_144670.6(A2ML1):c.2775A>T (p.Ala925=)
|
|
|
NM_144670.6(A2ML1):c.2790C>T (p.Ser930=)
|
|
|
NM_144670.6(A2ML1):c.2796G>C (p.Glu932Asp)
|
|
|
NM_144670.6(A2ML1):c.279G>A (p.Val93=)
|
|
|
NM_144670.6(A2ML1):c.279G>T (p.Val93=)
|
|
|
NM_144670.6(A2ML1):c.2826C>T (p.Thr942=)
|
|
|
NM_144670.6(A2ML1):c.282C>G (p.Ala94=)
|
rs185046854
|
|
NM_144670.6(A2ML1):c.282C>T (p.Ala94=)
|
rs185046854
|
|
NM_144670.6(A2ML1):c.2848+106A>C
|
rs112974204
|
|
NM_144670.6(A2ML1):c.2848+19T>C
|
|
|
NM_144670.6(A2ML1):c.2849-19C>G
|
rs2136912170
|
|
NM_144670.6(A2ML1):c.2862C>T (p.Gly954=)
|
|
|
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly)
|
rs199701571
|
|
NM_144670.6(A2ML1):c.2985G>C (p.Thr995=)
|
|
|
NM_144670.6(A2ML1):c.2997G>A (p.Arg999=)
|
rs1198210321
|
|
NM_144670.6(A2ML1):c.3025+20C>T
|
|
|
NM_144670.6(A2ML1):c.3025+9G>A
|
|
|
NM_144670.6(A2ML1):c.3026-8C>T
|
rs2136914827
|
|
NM_144670.6(A2ML1):c.3026-9del
|
rs766125259
|
|
NM_144670.6(A2ML1):c.3051A>G (p.Lys1017=)
|
|
|
NM_144670.6(A2ML1):c.3107+11C>T
|
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
NM_144670.6(A2ML1):c.3108-17C>T
|
|
|
NM_144670.6(A2ML1):c.3108-5T>C
|
|
|
NM_144670.6(A2ML1):c.3108-9C>T
|
rs958292588
|
|
NM_144670.6(A2ML1):c.3109C>T (p.Leu1037=)
|
|
|
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala)
|
rs565930773
|
|
NM_144670.6(A2ML1):c.3138C>T (p.Gly1046=)
|
|
|
NM_144670.6(A2ML1):c.3183T>C (p.Asp1061=)
|
|
|
NM_144670.6(A2ML1):c.3186T>C (p.Ala1062=)
|
|
|
NM_144670.6(A2ML1):c.3213C>T (p.Leu1071=)
|
|
|
NM_144670.6(A2ML1):c.3264+7A>C
|
|
|
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=)
|
rs764429289
|
|
NM_144670.6(A2ML1):c.3297G>A (p.Ala1099=)
|
rs201278545
|
|
NM_144670.6(A2ML1):c.3297G>C (p.Ala1099=)
|
rs201278545
|
|
NM_144670.6(A2ML1):c.3303C>T (p.Val1101=)
|
|
|
NM_144670.6(A2ML1):c.3318G>A (p.Leu1106=)
|
|
|
NM_144670.6(A2ML1):c.3322A>T (p.Met1108Leu)
|
|
|
NM_144670.6(A2ML1):c.3339+11C>T
|
|
|
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val)
|
rs79889829
|
|
NM_144670.6(A2ML1):c.3366G>C (p.Arg1122=)
|
|
|
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
|
|
|
NM_144670.6(A2ML1):c.3384C>T (p.Ala1128=)
|
|
|
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)
|
|
|
NM_144670.6(A2ML1):c.3398A>G (p.Asn1133Ser)
|
|
|
NM_144670.6(A2ML1):c.3405C>T (p.Tyr1135=)
|
|
|
NM_144670.6(A2ML1):c.3414C>T (p.Ala1138=)
|
|
|
NM_144670.6(A2ML1):c.3417G>A (p.Leu1139=)
|
|
|
NM_144670.6(A2ML1):c.342A>C (p.Leu114=)
|
rs2136697884
|
|
NM_144670.6(A2ML1):c.3431del (p.Phe1144fs)
|
rs776004500
|
|
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=)
|
|
|
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=)
|
|
|
NM_144670.6(A2ML1):c.3477G>A (p.Gln1159=)
|
|
|
NM_144670.6(A2ML1):c.3503-16G>T
|
rs2136942775
|
|
NM_144670.6(A2ML1):c.3503-20T>C
|
rs2136942759
|
|
NM_144670.6(A2ML1):c.3503-4A>T
|
rs1592150513
|
|
NM_144670.6(A2ML1):c.3510C>A (p.Ser1170=)
|
rs1060504130
|
|
NM_144670.6(A2ML1):c.3534T>A (p.Thr1178=)
|
|
|
NM_144670.6(A2ML1):c.3540A>G (p.Ser1180=)
|
|
|
NM_144670.6(A2ML1):c.3570G>A (p.Ala1190=)
|
|
|
NM_144670.6(A2ML1):c.360C>T (p.Asn120=)
|
|
|
NM_144670.6(A2ML1):c.363C>T (p.Gly121=)
|
|
|
NM_144670.6(A2ML1):c.3660C>T (p.Ser1220=)
|
|
|
NM_144670.6(A2ML1):c.3669T>C (p.Ala1223=)
|
|
|
NM_144670.6(A2ML1):c.3678C>A (p.Ala1226=)
|
|
|
NM_144670.6(A2ML1):c.3693A>C (p.Ala1231=)
|
|
|
NM_144670.6(A2ML1):c.36A>G (p.Leu12=)
|
|
|
NM_144670.6(A2ML1):c.3717+17C>T
|
rs2136944295
|
|
NM_144670.6(A2ML1):c.3717+19C>T
|
|
|
NM_144670.6(A2ML1):c.3717+279C>T
|
rs529270444
|
|
NM_144670.6(A2ML1):c.3718-13T>G
|
rs2136956715
|
|
NM_144670.6(A2ML1):c.3718-19G>T
|
|
|
NM_144670.6(A2ML1):c.3723T>G (p.Thr1241=)
|
|
|
NM_144670.6(A2ML1):c.3732T>A (p.Ala1244=)
|
|
|
NM_144670.6(A2ML1):c.3756C>G (p.Ala1252=)
|
rs749652025
|
|
NM_144670.6(A2ML1):c.3762C>T (p.Thr1254=)
|
|
|
NM_144670.6(A2ML1):c.3765C>G (p.Ala1255=)
|
rs1157251634
|
|
NM_144670.6(A2ML1):c.3768C>T (p.Tyr1256=)
|
|
|
NM_144670.6(A2ML1):c.3768_3769inv (p.Met1257Val)
|
|
|
NM_144670.6(A2ML1):c.3786C>T (p.Ile1262=)
|
rs1944473926
|
|
NM_144670.6(A2ML1):c.3804C>G (p.Ser1268=)
|
rs878855211
|
|
NM_144670.6(A2ML1):c.3825A>T (p.Thr1275=)
|
|
|
NM_144670.6(A2ML1):c.3909A>G (p.Ser1303=)
|
|
|
NM_144670.6(A2ML1):c.390C>G (p.Leu130=)
|
|
|
NM_144670.6(A2ML1):c.3933+10G>C
|
rs887874487
|
|
NM_144670.6(A2ML1):c.3933+16T>C
|
|
|
NM_144670.6(A2ML1):c.3933+8_3933+11del
|
rs2136958659
|
|
NM_144670.6(A2ML1):c.3934-15A>G
|
|
|
NM_144670.6(A2ML1):c.393C>T (p.Tyr131=)
|
|
|
NM_144670.6(A2ML1):c.3940T>C (p.Leu1314=)
|
rs2136959650
|
|
NM_144670.6(A2ML1):c.3960T>G (p.Pro1320=)
|
|
|
NM_144670.6(A2ML1):c.3969T>C (p.Asn1323=)
|
|
|
NM_144670.6(A2ML1):c.3987T>C (p.Leu1329=)
|
|
|
NM_144670.6(A2ML1):c.4022C>T (p.Pro1341Leu)
|
|
|
NM_144670.6(A2ML1):c.4061+15G>A
|
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
NM_144670.6(A2ML1):c.4062-20T>C
|
|
|
NM_144670.6(A2ML1):c.4062-5C>T
|
|
|
NM_144670.6(A2ML1):c.4065T>C (p.Tyr1355=)
|
|
|
NM_144670.6(A2ML1):c.4077T>C (p.Arg1359=)
|
rs1592156593
|
|
NM_144670.6(A2ML1):c.4086C>T (p.Ser1362=)
|
|
|
NM_144670.6(A2ML1):c.410-15C>G
|
|
|
NM_144670.6(A2ML1):c.410-52_410-51del
|
rs778132993
|
|
NM_144670.6(A2ML1):c.410-52_410-51dup
|
rs778132993
|
|
NM_144670.6(A2ML1):c.4143C>T (p.Thr1381=)
|
|
|
NM_144670.6(A2ML1):c.4152+8A>G
|
rs747413216
|
|
NM_144670.6(A2ML1):c.4153-17del
|
|
|
NM_144670.6(A2ML1):c.4167C>T (p.Pro1389=)
|
|
|
NM_144670.6(A2ML1):c.4206C>T (p.Asn1402=)
|
|
|
NM_144670.6(A2ML1):c.4221+16C>T
|
|
|
NM_144670.6(A2ML1):c.4222-11C>G
|
|
|
NM_144670.6(A2ML1):c.423T>C (p.Ile141=)
|
rs1592103349
|
|
NM_144670.6(A2ML1):c.4248C>A (p.Thr1416=)
|
|
|
NM_144670.6(A2ML1):c.4254C>T (p.Thr1418=)
|
|
|
NM_144670.6(A2ML1):c.4281C>T (p.Asn1427=)
|
|
|
NM_144670.6(A2ML1):c.4296C>A (p.Thr1432=)
|
|
|
NM_144670.6(A2ML1):c.4305C>G (p.Val1435=)
|
|
|
NM_144670.6(A2ML1):c.4325-9A>G
|
|
|
NM_144670.6(A2ML1):c.4341T>A (p.Ile1447=)
|
rs1592164861
|
|
NM_144670.6(A2ML1):c.4356C>T (p.Pro1452=)
|
|
|
NM_144670.6(A2ML1):c.462+10G>A
|
rs2136729288
|
|
NM_144670.6(A2ML1):c.462+17A>C
|
|
|
NM_144670.6(A2ML1):c.462+19A>G
|
|
|
NM_144670.6(A2ML1):c.462+19_462+21del
|
|
|
NM_144670.6(A2ML1):c.462+9GGA[2]
|
rs750639846
|
|
NM_144670.6(A2ML1):c.462+9GGA[5]
|
rs750639846
|
|
NM_144670.6(A2ML1):c.463-15G>C
|
|
|
NM_144670.6(A2ML1):c.484-9A>G
|
|
|
NM_144670.6(A2ML1):c.494G>A (p.Ser165Asn)
|
rs962354900
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NM_144670.6(A2ML1):c.540T>C (p.Ile180=)
|
rs377551636
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NM_144670.6(A2ML1):c.55G>A (p.Glu19Lys)
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NM_144670.6(A2ML1):c.564A>G (p.Ala188=)
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NM_144670.6(A2ML1):c.582C>T (p.Gly194=)
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NM_144670.6(A2ML1):c.585C>G (p.Thr195=)
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NM_144670.6(A2ML1):c.597A>G (p.Ala199=)
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NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys)
|
rs11047499
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NM_144670.6(A2ML1):c.62+9T>C
|
|
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NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
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NM_144670.6(A2ML1):c.643+14T>C
|
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NM_144670.6(A2ML1):c.643+16G>A
|
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NM_144670.6(A2ML1):c.643+20G>A
|
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NM_144670.6(A2ML1):c.644-222_644-221del
|
rs753902128
|
|
NM_144670.6(A2ML1):c.681G>A (p.Lys227=)
|
rs748686815
|
|
NM_144670.6(A2ML1):c.69C>T (p.Tyr23=)
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NM_144670.6(A2ML1):c.714A>T (p.Val238=)
|
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NM_144670.6(A2ML1):c.728+17G>C
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NM_144670.6(A2ML1):c.728+8C>T
|
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|
NM_144670.6(A2ML1):c.729-5G>A
|
rs1259899609
|
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NM_144670.6(A2ML1):c.747C>T (p.Pro249=)
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NM_144670.6(A2ML1):c.810G>A (p.Val270=)
|
rs2136775064
|
|
NM_144670.6(A2ML1):c.833A>G (p.Lys278Arg)
|
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NM_144670.6(A2ML1):c.840G>A (p.Arg280=)
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NM_144670.6(A2ML1):c.844C>T (p.Leu282Phe)
|
|
|
NM_144670.6(A2ML1):c.84A>T (p.Pro28=)
|
rs2136693929
|
|
NM_144670.6(A2ML1):c.855+15G>A
|
rs2136775573
|
|
NM_144670.6(A2ML1):c.855+343del
|
rs151300022
|
|
NM_144670.6(A2ML1):c.856-15T>C
|
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NM_144670.6(A2ML1):c.856-9C>A
|
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NM_144670.6(A2ML1):c.861C>T (p.Asp287=)
|
rs61921916
|
|
NM_144670.6(A2ML1):c.882A>G (p.Ala294=)
|
rs1292512117
|
|
NM_144670.6(A2ML1):c.888G>A (p.Val296=)
|
|
|
NM_144670.6(A2ML1):c.921G>C (p.Ala307=)
|
rs372520121
|
|
NM_144670.6(A2ML1):c.924C>T (p.Tyr308=)
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|
|
NM_144670.6(A2ML1):c.933A>G (p.Gln311=)
|
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|
NM_144670.6(A2ML1):c.970+16C>T
|
|
|
NM_144670.6(A2ML1):c.970+318C>T
|
rs7969994
|
|
NM_144670.6(A2ML1):c.971-18T>A
|
|
|
NM_144670.6(A2ML1):c.971-211G>A
|
rs56766736
|
|
NM_144670.6(A2ML1):c.975G>A (p.Val325=)
|
rs1414148497
|
|