NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
NM_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
NM_000245.4(MET):c.1944A>G (p.Gln648=)
|
rs13223756
|
0.16754
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
NM_000245.4(MET):c.-14-3314A>T
|
rs80153920
|
0.05896
|
NM_000245.4(MET):c.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
NM_000245.4(MET):c.1701+25A>G
|
rs73469198
|
0.03101
|
NM_000245.4(MET):c.3633-38A>G
|
rs115240747
|
0.02393
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_000245.4(MET):c.-14-13C>T
|
rs36080330
|
0.00978
|
NM_000245.4(MET):c.2888-36G>A
|
rs35624294
|
0.00931
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
NM_000245.4(MET):c.390C>T (p.Leu130=)
|
rs150588908
|
0.00740
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000245.4(MET):c.1701+75T>G
|
rs553431706
|
0.00407
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000245.4(MET):c.2584-23T>A
|
rs201491944
|
0.00247
|
NM_000245.4(MET):c.3522T>C (p.His1174=)
|
rs146651797
|
0.00243
|
NM_000245.4(MET):c.2365-21G>C
|
rs140853140
|
0.00242
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000245.4(MET):c.2662C>T (p.His888Tyr)
|
rs115574135
|
0.00166
|
NM_000245.4(MET):c.1528-38A>T
|
rs574459492
|
0.00158
|
NM_000245.4(MET):c.1528-39T>A
|
rs556216308
|
0.00158
|
NM_000245.4(MET):c.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000245.4(MET):c.2584-9T>C
|
rs74994656
|
0.00119
|
NM_000245.4(MET):c.3549C>T (p.Gly1183=)
|
rs371165052
|
0.00074
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
rs375353223
|
0.00041
|
NM_000245.4(MET):c.3521A>G (p.His1174Arg)
|
rs372830789
|
0.00041
|
NM_000245.4(MET):c.3810C>T (p.Gly1270=)
|
rs200865810
|
0.00039
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_000245.4(MET):c.1966-17T>C
|
rs555288487
|
0.00027
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_000245.4(MET):c.4105T>C (p.Leu1369=)
|
rs45575438
|
0.00021
|
NM_000245.4(MET):c.3522+12G>T
|
rs200624981
|
0.00019
|
NM_000245.4(MET):c.1201-14A>G
|
rs762306750
|
0.00016
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000245.4(MET):c.1966-32G>C
|
rs564891216
|
0.00012
|
NM_000245.4(MET):c.289C>G (p.Pro97Ala)
|
rs199736573
|
0.00012
|
NM_000245.4(MET):c.2548A>G (p.Ile850Val)
|
rs200524064
|
0.00011
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln)
|
rs199763277
|
0.00008
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000245.4(MET):c.12C>T (p.Pro4=)
|
rs772251895
|
0.00006
|
NM_000245.4(MET):c.3168T>C (p.Ser1056=)
|
rs376069508
|
0.00006
|
NM_000245.4(MET):c.3811G>A (p.Val1271Met)
|
rs751186512
|
0.00006
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
NM_000245.4(MET):c.1063G>A (p.Glu355Lys)
|
rs561295443
|
0.00005
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
NM_000245.4(MET):c.632T>G (p.Leu211Trp)
|
rs45483396
|
0.00005
|
NM_000245.4(MET):c.1278C>T (p.Arg426=)
|
rs748508881
|
0.00004
|
NM_000245.4(MET):c.1374A>G (p.Ser458=)
|
rs755165691
|
0.00004
|
NM_000245.4(MET):c.1392+14G>A
|
rs529823741
|
0.00004
|
NM_000245.4(MET):c.2584-16T>C
|
rs766575983
|
0.00004
|
NM_000245.4(MET):c.2677T>A (p.Leu893Ile)
|
rs376104371
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.3459G>A (p.Pro1153=)
|
rs201245213
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000245.4(MET):c.510C>G (p.Ser170Arg)
|
rs587778442
|
0.00004
|
NM_000245.4(MET):c.1701+14A>G
|
rs768638354
|
0.00003
|
NM_000245.4(MET):c.1701+47T>G
|
rs754198809
|
0.00003
|
NM_000245.4(MET):c.1723C>A (p.Leu575Ile)
|
rs587778445
|
0.00003
|
NM_000245.4(MET):c.1972G>A (p.Val658Ile)
|
rs587778446
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr)
|
rs1177400289
|
0.00003
|
NM_000245.4(MET):c.666G>A (p.Thr222=)
|
rs1444020594
|
0.00003
|
NM_000245.4(MET):c.1343G>A (p.Gly448Glu)
|
rs750256779
|
0.00002
|
NM_000245.4(MET):c.1862+24T>A
|
rs758246482
|
0.00002
|
NM_000245.4(MET):c.2216G>A (p.Arg739His)
|
rs45553236
|
0.00002
|
NM_000245.4(MET):c.2319G>A (p.Pro773=)
|
rs141733128
|
0.00002
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00002
|
NM_000245.4(MET):c.2888-41T>C
|
rs775541395
|
0.00002
|
NM_000245.4(MET):c.3054C>T (p.Asn1018=)
|
rs369148519
|
0.00002
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
NM_000245.4(MET):c.1171G>A (p.Gly391Arg)
|
rs587778443
|
0.00001
|
NM_000245.4(MET):c.1393-6G>A
|
rs202194405
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.1584A>G (p.Gln528=)
|
rs55755322
|
0.00001
|
NM_000245.4(MET):c.1644G>A (p.Ser548=)
|
rs750584257
|
0.00001
|
NM_000245.4(MET):c.1660G>A (p.Gly554Arg)
|
rs200218511
|
0.00001
|
NM_000245.4(MET):c.2136A>G (p.Pro712=)
|
rs774439479
|
0.00001
|
NM_000245.4(MET):c.249G>C (p.Glu83Asp)
|
rs751158831
|
0.00001
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00001
|
NM_000245.4(MET):c.2851T>C (p.Phe951Leu)
|
rs756670611
|
0.00001
|
NM_000245.4(MET):c.2977A>G (p.Thr993Ala)
|
rs587778441
|
0.00001
|
NM_000245.4(MET):c.3276A>T (p.Val1092=)
|
rs757338659
|
0.00001
|
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln)
|
rs369838973
|
0.00001
|
NM_000245.4(MET):c.3799-5A>G
|
rs1340355638
|
0.00001
|
NM_000245.4(MET):c.3972C>T (p.Ala1324=)
|
rs201519623
|
0.00001
|
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys)
|
rs587778444
|
0.00001
|
NM_000245.4(MET):c.490C>G (p.Pro164Ala)
|
rs765759353
|
0.00001
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
NM_000245.4(MET):c.805C>T (p.Leu269=)
|
rs781257386
|
0.00001
|
NM_000245.4(MET):c.912A>G (p.Arg304=)
|
rs762885066
|
0.00001
|
NM_000245.4(MET):c.-14-12C>G
|
|
|
NM_000245.4(MET):c.-14-26C>T
|
rs2116576794
|
|
NM_000245.4(MET):c.-14-3297G>C
|
rs80048442
|
|
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
|
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1200+46A>C
|
|
|
NM_000245.4(MET):c.1276C>T (p.Arg426Cys)
|
rs774779741
|
|
NM_000245.4(MET):c.1285T>A (p.Leu429Ile)
|
rs911380470
|
|
NM_000245.4(MET):c.1306G>C (p.Glu436Gln)
|
rs200740468
|
|
NM_000245.4(MET):c.1354A>G (p.Ile452Val)
|
rs1793018926
|
|
NM_000245.4(MET):c.1363C>T (p.Leu455Phe)
|
rs780077898
|
|
NM_000245.4(MET):c.1392+21del
|
|
|
NM_000245.4(MET):c.1393-23G>A
|
|
|
NM_000245.4(MET):c.1428T>C (p.His476=)
|
rs1432416607
|
|
NM_000245.4(MET):c.1527+33G>A
|
|
|
NM_000245.4(MET):c.1528-39_1528-38delinsAT
|
rs1554391208
|
|
NM_000245.4(MET):c.1650A>G (p.Glu550=)
|
rs2116836870
|
|
NM_000245.4(MET):c.1701+56_1701+58del
|
|
|
NM_000245.4(MET):c.1701+56_1701+58dup
|
|
|
NM_000245.4(MET):c.1701+57_1701+58del
|
rs112241458
|
|
NM_000245.4(MET):c.1701+57_1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+58_1701+59insTG
|
rs587777950
|
|
NM_000245.4(MET):c.1701+58del
|
rs112241458
|
|
NM_000245.4(MET):c.1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+80dup
|
rs587777951
|
|
NM_000245.4(MET):c.1702-24A>T
|
|
|
NM_000245.4(MET):c.1702-25del
|
|
|
NM_000245.4(MET):c.1716T>C (p.Ser572=)
|
rs1382410716
|
|
NM_000245.4(MET):c.1719A>C (p.Ala573=)
|
rs199776656
|
|
NM_000245.4(MET):c.1838C>T (p.Thr613Ile)
|
|
|
NM_000245.4(MET):c.1863-11T>C
|
rs2116919514
|
|
NM_000245.4(MET):c.1896G>A (p.Lys632=)
|
rs749484691
|
|
NM_000245.4(MET):c.1910C>A (p.Ser637Tyr)
|
rs2116920387
|
|
NM_000245.4(MET):c.1965+20A>G
|
rs587777952
|
|
NM_000245.4(MET):c.1966-23T>C
|
|
|
NM_000245.4(MET):c.1966-29A>T
|
rs2116922475
|
|
NM_000245.4(MET):c.1966-36A>G
|
|
|
NM_000245.4(MET):c.2102+50G>C
|
|
|
NM_000245.4(MET):c.2209A>G (p.Ser737Gly)
|
rs755571526
|
|
NM_000245.4(MET):c.2285G>A (p.Gly762Asp)
|
rs1060503541
|
|
NM_000245.4(MET):c.2364+39A>G
|
|
|
NM_000245.4(MET):c.2365-14G>A
|
rs769247886
|
|
NM_000245.4(MET):c.2434C>G (p.Gln812Glu)
|
rs398123568
|
|
NM_000245.4(MET):c.2510A>G (p.His837Arg)
|
rs1041349799
|
|
NM_000245.4(MET):c.253A>G (p.Lys85Glu)
|
rs1791469321
|
|
NM_000245.4(MET):c.2583+45T>G
|
rs768994279
|
|
NM_000245.4(MET):c.2583+50G>T
|
|
|
NM_000245.4(MET):c.2584-10_2584-9del
|
rs57349036
|
|
NM_000245.4(MET):c.2584-11_2584-9del
|
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000245.4(MET):c.2584-9dup
|
rs57349036
|
|
NM_000245.4(MET):c.2694T>C (p.Asn898=)
|
|
|
NM_000245.4(MET):c.2887+49T>G
|
|
|
NM_000245.4(MET):c.2888-22C>T
|
|
|
NM_000245.4(MET):c.2959C>G (p.Arg987Gly)
|
|
|
NM_000245.4(MET):c.3028+18G>A
|
|
|
NM_000245.4(MET):c.3029-45T>C
|
|
|
NM_000245.4(MET):c.3041A>G (p.Asn1014Ser)
|
rs2117029538
|
|
NM_000245.4(MET):c.3151G>A (p.Val1051Ile)
|
rs775997318
|
|
NM_000245.4(MET):c.3260-43T>C
|
|
|
NM_000245.4(MET):c.3281A>C (p.His1094Pro)
|
rs121913243
|
|
NM_000245.4(MET):c.3286A>G (p.Thr1096Ala)
|
rs2117039915
|
|
NM_000245.4(MET):c.3317A>G (p.His1106Arg)
|
|
|
NM_000245.4(MET):c.3341-49A>G
|
|
|
NM_000245.4(MET):c.3399T>C (p.Asp1133=)
|
rs2117046045
|
|
NM_000245.4(MET):c.3486T>C (p.His1162=)
|
rs765565377
|
|
NM_000245.4(MET):c.3523-10T>C
|
rs2117059286
|
|
NM_000245.4(MET):c.3523-48G>A
|
|
|
NM_000245.4(MET):c.356C>A (p.Ala119Asp)
|
|
|
NM_000245.4(MET):c.3593A>G (p.Lys1198Arg)
|
rs2117060321
|
|
NM_000245.4(MET):c.3632+17C>G
|
rs758230781
|
|
NM_000245.4(MET):c.3632+17C>T
|
rs758230781
|
|
NM_000245.4(MET):c.3658G>C (p.Val1220Leu)
|
rs121913670
|
|
NM_000245.4(MET):c.369C>T (p.Asp123=)
|
rs1417054613
|
|
NM_000245.4(MET):c.372C>G (p.Thr124=)
|
rs574911056
|
|
NM_000245.4(MET):c.3775_3776del (p.Lys1259fs)
|
rs2117067376
|
|
NM_000245.4(MET):c.3798+34T>C
|
|
|
NM_000245.4(MET):c.3799-17G>A
|
|
|
NM_000245.4(MET):c.3804C>T (p.Ser1268=)
|
rs764822445
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000245.4(MET):c.4038G>A (p.Gly1346=)
|
rs886038413
|
|
NM_000245.4(MET):c.4052A>G (p.His1351Arg)
|
rs1490801483
|
|
NM_000245.4(MET):c.4097C>T (p.Pro1366Leu)
|
rs778084120
|
|
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter)
|
rs200315561
|
|
NM_000245.4(MET):c.452C>T (p.Thr151Ile)
|
rs1584876832
|
|
NM_000245.4(MET):c.591A>G (p.Val197=)
|
|
|
NM_000245.4(MET):c.639G>C (p.Ser213=)
|
|
|
NM_000245.4(MET):c.751C>G (p.His251Asp)
|
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
NM_000245.4(MET):c.955G>T (p.Ala319Ser)
|
rs545332056
|
|