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.1131C>T (p.Ile377=)
|
rs28444388
|
0.05590
|
NM_000245.4(MET):c.144G>A (p.Ala48=)
|
rs11762213
|
0.03399
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
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.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000245.4(MET):c.3522T>C (p.His1174=)
|
rs146651797
|
0.00243
|
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.654G>A (p.Arg218=)
|
rs35284565
|
0.00153
|
NM_000245.4(MET):c.3549C>T (p.Gly1183=)
|
rs371165052
|
0.00074
|
NM_000245.4(MET):c.798G>A (p.Arg266=)
|
rs185301166
|
0.00073
|
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.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
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.2715C>T (p.Ser905=)
|
rs45572835
|
0.00039
|
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.2198C>T (p.Thr733Ile)
|
rs201271860
|
0.00029
|
NM_000245.4(MET):c.1191C>T (p.Cys397=)
|
rs35763409
|
0.00028
|
NM_000245.4(MET):c.1932C>T (p.His644=)
|
rs45520237
|
0.00024
|
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.2568T>C (p.Asn856=)
|
rs118057172
|
0.00020
|
NM_000245.4(MET):c.665C>T (p.Thr222Met)
|
rs200776610
|
0.00019
|
NM_000245.4(MET):c.2133C>A (p.Thr711=)
|
rs747803111
|
0.00017
|
NM_000245.4(MET):c.4091C>T (p.Pro1364Leu)
|
rs752791731
|
0.00017
|
NM_000245.4(MET):c.1263C>T (p.Thr421=)
|
rs45499391
|
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.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
NM_000245.4(MET):c.1233G>A (p.Ala411=)
|
rs374081963
|
0.00014
|
NM_000245.4(MET):c.1270T>C (p.Leu424=)
|
rs372229471
|
0.00014
|
NM_000245.4(MET):c.1975A>T (p.Ile659Leu)
|
rs753958204
|
0.00014
|
NM_000245.4(MET):c.289C>G (p.Pro97Ala)
|
rs199736573
|
0.00012
|
NM_000245.4(MET):c.3798+5T>C
|
rs368150874
|
0.00012
|
NM_000245.4(MET):c.2378G>A (p.Arg793His)
|
rs199643166
|
0.00011
|
NM_000245.4(MET):c.2548A>G (p.Ile850Val)
|
rs200524064
|
0.00011
|
NM_000245.4(MET):c.2684C>T (p.Thr895Met)
|
rs199502137
|
0.00011
|
NM_000245.4(MET):c.2110A>G (p.Asn704Asp)
|
rs373030463
|
0.00010
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000245.4(MET):c.2543T>C (p.Val848Ala)
|
rs587782205
|
0.00008
|
NM_000245.4(MET):c.280G>C (p.Asp94His)
|
rs899151863
|
0.00008
|
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln)
|
rs199763277
|
0.00008
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
NM_000245.4(MET):c.1989G>A (p.Ser663=)
|
rs201180585
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000245.4(MET):c.345C>T (p.Asn115=)
|
rs774038166
|
0.00007
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
rs757427533
|
0.00007
|
NM_000245.4(MET):c.960G>A (p.Ala320=)
|
rs191198682
|
0.00007
|
NM_000245.4(MET):c.105G>C (p.Met35Ile)
|
rs376244358
|
0.00006
|
NM_000245.4(MET):c.12C>T (p.Pro4=)
|
rs772251895
|
0.00006
|
NM_000245.4(MET):c.22G>A (p.Ala8Thr)
|
rs758564871
|
0.00006
|
NM_000245.4(MET):c.3168T>C (p.Ser1056=)
|
rs376069508
|
0.00006
|
NM_000245.4(MET):c.3477C>T (p.Tyr1159=)
|
rs372238373
|
0.00006
|
NM_000245.4(MET):c.36C>T (p.Leu12=)
|
rs188625702
|
0.00006
|
NM_000245.4(MET):c.3811G>A (p.Val1271Met)
|
rs751186512
|
0.00006
|
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)
|
rs752669237
|
0.00006
|
NM_000245.4(MET):c.4134G>A (p.Glu1378=)
|
rs879254328
|
0.00006
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
NM_000245.4(MET):c.900C>T (p.Leu300=)
|
rs540354779
|
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.1659C>T (p.Ser553=)
|
rs377284387
|
0.00005
|
NM_000245.4(MET):c.1956C>T (p.Phe652=)
|
rs756154521
|
0.00005
|
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)
|
rs376459715
|
0.00005
|
NM_000245.4(MET):c.2674G>A (p.Val892Ile)
|
rs761243391
|
0.00005
|
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln)
|
rs45612435
|
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.789G>A (p.Thr263=)
|
rs554190225
|
0.00005
|
NM_000245.4(MET):c.1019A>G (p.Asp340Gly)
|
rs200690492
|
0.00004
|
NM_000245.4(MET):c.1030G>A (p.Gly344Arg)
|
rs761768345
|
0.00004
|
NM_000245.4(MET):c.1038C>T (p.Phe346=)
|
rs376235685
|
0.00004
|
NM_000245.4(MET):c.1062C>T (p.Ala354=)
|
rs755166920
|
0.00004
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
rs749738523
|
0.00004
|
NM_000245.4(MET):c.1278C>T (p.Arg426=)
|
rs748508881
|
0.00004
|
NM_000245.4(MET):c.1320A>G (p.Thr440=)
|
rs763726060
|
0.00004
|
NM_000245.4(MET):c.1359T>C (p.Ala453=)
|
rs755985210
|
0.00004
|
NM_000245.4(MET):c.1374A>G (p.Ser458=)
|
rs755165691
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.1881T>C (p.Gly627=)
|
rs200050499
|
0.00004
|
NM_000245.4(MET):c.1984A>G (p.Ile662Val)
|
rs765244598
|
0.00004
|
NM_000245.4(MET):c.1992G>A (p.Pro664=)
|
rs373842614
|
0.00004
|
NM_000245.4(MET):c.2103-4T>C
|
rs753740913
|
0.00004
|
NM_000245.4(MET):c.2113A>G (p.Ser705Gly)
|
rs781110968
|
0.00004
|
NM_000245.4(MET):c.2342A>C (p.Glu781Ala)
|
rs771231484
|
0.00004
|
NM_000245.4(MET):c.2677T>A (p.Leu893Ile)
|
rs376104371
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.2913C>T (p.Tyr971=)
|
rs371379572
|
0.00004
|
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro)
|
rs771328219
|
0.00004
|
NM_000245.4(MET):c.341A>T (p.Asp114Val)
|
rs773659883
|
0.00004
|
NM_000245.4(MET):c.3459G>A (p.Pro1153=)
|
rs201245213
|
0.00004
|
NM_000245.4(MET):c.3489A>T (p.Gly1163=)
|
rs753101831
|
0.00004
|
NM_000245.4(MET):c.3842C>G (p.Ala1281Gly)
|
rs750337451
|
0.00004
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000245.4(MET):c.428G>A (p.Arg143Gln)
|
rs35469582
|
0.00004
|
NM_000245.4(MET):c.510C>G (p.Ser170Arg)
|
rs587778442
|
0.00004
|
NM_000245.4(MET):c.739A>G (p.Ile247Val)
|
rs749728359
|
0.00004
|
NM_000245.4(MET):c.1235G>A (p.Arg412His)
|
rs371463233
|
0.00003
|
NM_000245.4(MET):c.1279G>A (p.Val427Ile)
|
rs376364468
|
0.00003
|
NM_000245.4(MET):c.1291A>G (p.Met431Val)
|
rs766929091
|
0.00003
|
NM_000245.4(MET):c.1408T>A (p.Ser470Thr)
|
rs1484724510
|
0.00003
|
NM_000245.4(MET):c.1414C>T (p.Pro472Ser)
|
rs376589619
|
0.00003
|
NM_000245.4(MET):c.1510G>T (p.Val504Phe)
|
rs587780735
|
0.00003
|
NM_000245.4(MET):c.1626C>T (p.His542=)
|
rs762898756
|
0.00003
|
NM_000245.4(MET):c.1643C>T (p.Ser548Leu)
|
rs767715328
|
0.00003
|
NM_000245.4(MET):c.1723C>A (p.Leu575Ile)
|
rs587778445
|
0.00003
|
NM_000245.4(MET):c.1810C>G (p.Leu604Val)
|
rs201861645
|
0.00003
|
NM_000245.4(MET):c.1853C>T (p.Thr618Met)
|
rs753407699
|
0.00003
|
NM_000245.4(MET):c.1854G>A (p.Thr618=)
|
rs367764141
|
0.00003
|
NM_000245.4(MET):c.1972G>A (p.Val658Ile)
|
rs587778446
|
0.00003
|
NM_000245.4(MET):c.2055G>A (p.Gly685=)
|
rs766401668
|
0.00003
|
NM_000245.4(MET):c.2325G>T (p.Met775Ile)
|
rs748086754
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.2658C>T (p.His886=)
|
rs748950533
|
0.00003
|
NM_000245.4(MET):c.2769A>C (p.Val923=)
|
rs371015065
|
0.00003
|
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
|
rs768678989
|
0.00003
|
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)
|
rs752641437
|
0.00003
|
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr)
|
rs1177400289
|
0.00003
|
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)
|
rs201037977
|
0.00003
|
NM_000245.4(MET):c.3633-4G>C
|
rs1477354447
|
0.00003
|
NM_000245.4(MET):c.37G>A (p.Val13Met)
|
rs781777052
|
0.00003
|
NM_000245.4(MET):c.4086C>T (p.Val1362=)
|
rs753757242
|
0.00003
|
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)
|
rs747239403
|
0.00003
|
NM_000245.4(MET):c.4117G>C (p.Asp1373His)
|
rs398123570
|
0.00003
|
NM_000245.4(MET):c.617T>C (p.Phe206Ser)
|
rs746295363
|
0.00003
|
NM_000245.4(MET):c.639G>A (p.Ser213=)
|
rs587780738
|
0.00003
|
NM_000245.4(MET):c.666G>A (p.Thr222=)
|
rs1444020594
|
0.00003
|
NM_000245.4(MET):c.682T>C (p.Phe228Leu)
|
rs921083171
|
0.00003
|
NM_000245.4(MET):c.690G>A (p.Thr230=)
|
rs200138253
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000245.4(MET):c.788C>T (p.Thr263Met)
|
rs764052874
|
0.00003
|
NM_000245.4(MET):c.900C>G (p.Leu300=)
|
rs540354779
|
0.00003
|
NM_000245.4(MET):c.1027T>C (p.Phe343Leu)
|
rs774022115
|
0.00002
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.1234C>T (p.Arg412Cys)
|
rs367628460
|
0.00002
|
NM_000245.4(MET):c.1343G>A (p.Gly448Glu)
|
rs750256779
|
0.00002
|
NM_000245.4(MET):c.1382G>A (p.Arg461His)
|
rs544274181
|
0.00002
|
NM_000245.4(MET):c.1398G>A (p.Val466=)
|
rs779091695
|
0.00002
|
NM_000245.4(MET):c.13G>A (p.Ala5Thr)
|
rs765444467
|
0.00002
|
NM_000245.4(MET):c.1532C>T (p.Thr511Met)
|
rs371124109
|
0.00002
|
NM_000245.4(MET):c.1533G>A (p.Thr511=)
|
rs866306366
|
0.00002
|
NM_000245.4(MET):c.1617C>T (p.Gly539=)
|
rs776490266
|
0.00002
|
NM_000245.4(MET):c.1636G>A (p.Val546Met)
|
rs774462373
|
0.00002
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
NM_000245.4(MET):c.1749A>G (p.Ile583Met)
|
rs776805376
|
0.00002
|
NM_000245.4(MET):c.1766G>T (p.Gly589Val)
|
rs943753621
|
0.00002
|
NM_000245.4(MET):c.1906A>G (p.Met636Val)
|
rs761183186
|
0.00002
|
NM_000245.4(MET):c.2215C>T (p.Arg739Cys)
|
rs45587940
|
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.2326G>C (p.Val776Leu)
|
rs771976817
|
0.00002
|
NM_000245.4(MET):c.232C>T (p.Leu78Phe)
|
rs766815155
|
0.00002
|
NM_000245.4(MET):c.2344G>A (p.Ala782Thr)
|
rs1262601648
|
0.00002
|
NM_000245.4(MET):c.2373A>G (p.Gln791=)
|
rs760294359
|
0.00002
|
NM_000245.4(MET):c.2377C>T (p.Arg793Cys)
|
rs45440991
|
0.00002
|
NM_000245.4(MET):c.2437C>A (p.Leu813Ile)
|
rs745345346
|
0.00002
|
NM_000245.4(MET):c.2455G>A (p.Ala819Thr)
|
rs786203672
|
0.00002
|
NM_000245.4(MET):c.2562T>C (p.Asn854=)
|
rs1060504946
|
0.00002
|
NM_000245.4(MET):c.2585G>C (p.Gly862Ala)
|
rs1394626435
|
0.00002
|
NM_000245.4(MET):c.2723A>G (p.Asn908Ser)
|
rs1478309975
|
0.00002
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00002
|
NM_000245.4(MET):c.2787G>C (p.Gln929His)
|
rs908653562
|
0.00002
|
NM_000245.4(MET):c.3034T>C (p.Phe1012Leu)
|
rs376243090
|
0.00002
|
NM_000245.4(MET):c.3054C>T (p.Asn1018=)
|
rs369148519
|
0.00002
|
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys)
|
rs45628136
|
0.00002
|
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly)
|
rs780431412
|
0.00002
|
NM_000245.4(MET):c.3355G>A (p.Gly1119Arg)
|
rs1191752014
|
0.00002
|
NM_000245.4(MET):c.3378C>T (p.Thr1126=)
|
rs201111132
|
0.00002
|
NM_000245.4(MET):c.3451G>A (p.Gly1151Arg)
|
rs534974144
|
0.00002
|
NM_000245.4(MET):c.3474A>G (p.Pro1158=)
|
rs200659843
|
0.00002
|
NM_000245.4(MET):c.34C>T (p.Leu12Phe)
|
rs764455004
|
0.00002
|
NM_000245.4(MET):c.3702C>T (p.Tyr1234=)
|
rs201747580
|
0.00002
|
NM_000245.4(MET):c.3705T>C (p.Tyr1235=)
|
rs754467674
|
0.00002
|
NM_000245.4(MET):c.3880G>A (p.Val1294Ile)
|
rs1263785859
|
0.00002
|
NM_000245.4(MET):c.4011A>G (p.Ile1337Met)
|
rs376418811
|
0.00002
|
NM_000245.4(MET):c.4057A>G (p.Asn1353Asp)
|
rs374383028
|
0.00002
|
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr)
|
rs761522694
|
0.00002
|
NM_000245.4(MET):c.4074C>T (p.Asn1358=)
|
rs772860611
|
0.00002
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
rs765332671
|
0.00002
|
NM_000245.4(MET):c.4140C>T (p.Asp1380=)
|
rs370368651
|
0.00002
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
NM_000245.4(MET):c.535G>A (p.Ala179Thr)
|
rs753697730
|
0.00002
|
NM_000245.4(MET):c.623A>G (p.Asp208Gly)
|
rs587782086
|
0.00002
|
NM_000245.4(MET):c.743A>T (p.Lys248Met)
|
rs769181927
|
0.00002
|
NM_000245.4(MET):c.781T>C (p.Phe261Leu)
|
rs765061513
|
0.00002
|
NM_000245.4(MET):c.852A>G (p.Ile284Met)
|
rs759227622
|
0.00002
|
NM_000245.4(MET):c.86C>T (p.Ala29Val)
|
rs775439897
|
0.00002
|
NM_000245.4(MET):c.939G>A (p.Val313=)
|
rs375716972
|
0.00002
|
NM_000245.4(MET):c.102G>C (p.Glu34Asp)
|
rs1296330997
|
0.00001
|
NM_000245.4(MET):c.1033G>T (p.Val345Leu)
|
rs1232896056
|
0.00001
|
NM_000245.4(MET):c.1068A>G (p.Pro356=)
|
rs934426317
|
0.00001
|
NM_000245.4(MET):c.107A>G (p.Asn36Ser)
|
rs1282716584
|
0.00001
|
NM_000245.4(MET):c.1099A>G (p.Ile367Val)
|
rs774146015
|
0.00001
|
NM_000245.4(MET):c.109G>T (p.Val37Leu)
|
rs863224692
|
0.00001
|
NM_000245.4(MET):c.1101C>A (p.Ile367=)
|
rs747940150
|
0.00001
|
NM_000245.4(MET):c.1113C>T (p.Asn371=)
|
rs772014416
|
0.00001
|
NM_000245.4(MET):c.1137C>T (p.Asn379=)
|
rs1060504942
|
0.00001
|
NM_000245.4(MET):c.1159C>T (p.Gln387Ter)
|
rs757846126
|
0.00001
|
NM_000245.4(MET):c.1161G>A (p.Gln387=)
|
rs1476181476
|
0.00001
|
NM_000245.4(MET):c.1171G>A (p.Gly391Arg)
|
rs587778443
|
0.00001
|
NM_000245.4(MET):c.1173A>G (p.Gly391=)
|
rs753309112
|
0.00001
|
NM_000245.4(MET):c.1178A>G (p.Asn393Ser)
|
rs754635450
|
0.00001
|
NM_000245.4(MET):c.1185G>A (p.Glu395=)
|
rs1369230650
|
0.00001
|
NM_000245.4(MET):c.1218A>T (p.Ser406=)
|
rs1358705636
|
0.00001
|
NM_000245.4(MET):c.1221A>G (p.Ser407=)
|
rs200003116
|
0.00001
|
NM_000245.4(MET):c.1222G>A (p.Gly408Ser)
|
rs1289461217
|
0.00001
|
NM_000245.4(MET):c.1224C>G (p.Gly408=)
|
rs965135961
|
0.00001
|
NM_000245.4(MET):c.1232C>T (p.Ala411Val)
|
rs201154533
|
0.00001
|
NM_000245.4(MET):c.1237C>T (p.Arg413Cys)
|
rs201980687
|
0.00001
|
NM_000245.4(MET):c.1238G>A (p.Arg413His)
|
rs375391602
|
0.00001
|
NM_000245.4(MET):c.1241A>C (p.Asp414Ala)
|
rs1554388638
|
0.00001
|
NM_000245.4(MET):c.1242T>A (p.Asp414Glu)
|
rs1230741853
|
0.00001
|
NM_000245.4(MET):c.1266A>G (p.Thr422=)
|
rs1407970053
|
0.00001
|
NM_000245.4(MET):c.1277G>A (p.Arg426His)
|
rs986139438
|
0.00001
|
NM_000245.4(MET):c.1305C>T (p.Ser435=)
|
rs762520351
|
0.00001
|
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)
|
rs200740468
|
0.00001
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
NM_000245.4(MET):c.1365T>G (p.Leu455=)
|
rs369639118
|
0.00001
|
NM_000245.4(MET):c.1371A>G (p.Thr457=)
|
rs201632219
|
0.00001
|
NM_000245.4(MET):c.1392+5G>C
|
rs386833405
|
0.00001
|
NM_000245.4(MET):c.1406G>A (p.Arg469Gln)
|
rs752842662
|
0.00001
|
NM_000245.4(MET):c.141C>T (p.Thr47=)
|
rs864622222
|
0.00001
|
NM_000245.4(MET):c.1437T>G (p.Phe479Leu)
|
rs1346572528
|
0.00001
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
rs80256822
|
0.00001
|
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)
|
rs863224694
|
0.00001
|
NM_000245.4(MET):c.1450C>T (p.His484Tyr)
|
rs771272439
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.146A>G (p.Glu49Gly)
|
rs370499060
|
0.00001
|
NM_000245.4(MET):c.1477G>C (p.Glu493Gln)
|
rs965319455
|
0.00001
|
NM_000245.4(MET):c.147A>G (p.Glu49=)
|
rs398123567
|
0.00001
|
NM_000245.4(MET):c.1490A>G (p.Asn497Ser)
|
rs753713629
|
0.00001
|
NM_000245.4(MET):c.1497T>C (p.Asn499=)
|
rs199922867
|
0.00001
|
NM_000245.4(MET):c.150A>G (p.Thr50=)
|
rs199898841
|
0.00001
|
NM_000245.4(MET):c.1552T>A (p.Leu518Met)
|
rs780293990
|
0.00001
|
NM_000245.4(MET):c.1572G>A (p.Gln524=)
|
rs201878238
|
0.00001
|
NM_000245.4(MET):c.1584A>G (p.Gln528=)
|
rs55755322
|
0.00001
|
NM_000245.4(MET):c.1596C>T (p.Ala532=)
|
rs746546046
|
0.00001
|
NM_000245.4(MET):c.162T>C (p.Asn54=)
|
rs1791464380
|
0.00001
|
NM_000245.4(MET):c.1635T>C (p.Cys545=)
|
rs1465559829
|
0.00001
|
NM_000245.4(MET):c.1639C>A (p.Arg547=)
|
rs1047795344
|
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.1662G>A (p.Gly554=)
|
rs779328011
|
0.00001
|
NM_000245.4(MET):c.1663A>G (p.Thr555Ala)
|
rs370883654
|
0.00001
|
NM_000245.4(MET):c.1677G>T (p.Gln559His)
|
rs1290346524
|
0.00001
|
NM_000245.4(MET):c.1693A>G (p.Ile565Val)
|
rs745479104
|
0.00001
|
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys)
|
rs1445578353
|
0.00001
|
NM_000245.4(MET):c.1699A>G (p.Lys567Glu)
|
rs769592729
|
0.00001
|
NM_000245.4(MET):c.1702-3T>C
|
rs754686930
|
0.00001
|
NM_000245.4(MET):c.1706T>C (p.Phe569Ser)
|
rs778626291
|
0.00001
|
NM_000245.4(MET):c.1719A>G (p.Ala573=)
|
rs199776656
|
0.00001
|
NM_000245.4(MET):c.173A>G (p.His58Arg)
|
rs374578653
|
0.00001
|
NM_000245.4(MET):c.1772G>A (p.Arg591Gln)
|
rs775965879
|
0.00001
|
NM_000245.4(MET):c.180T>A (p.His60Gln)
|
rs745740862
|
0.00001
|
NM_000245.4(MET):c.1812C>T (p.Leu604=)
|
rs1412870024
|
0.00001
|
NM_000245.4(MET):c.1839T>G (p.Thr613=)
|
rs373586966
|
0.00001
|
NM_000245.4(MET):c.1858A>G (p.Asn620Asp)
|
rs372116735
|
0.00001
|
NM_000245.4(MET):c.1863-3C>T
|
rs1160304097
|
0.00001
|
NM_000245.4(MET):c.1902C>T (p.Phe634=)
|
rs772450441
|
0.00001
|
NM_000245.4(MET):c.1904A>G (p.Asn635Ser)
|
rs773826297
|
0.00001
|
NM_000245.4(MET):c.1907T>A (p.Met636Lys)
|
rs775011117
|
0.00001
|
NM_000245.4(MET):c.1937C>A (p.Thr646Lys)
|
rs751307227
|
0.00001
|
NM_000245.4(MET):c.196G>T (p.Ala66Ser)
|
rs770341307
|
0.00001
|
NM_000245.4(MET):c.1998C>T (p.Tyr666=)
|
rs566540058
|
0.00001
|
NM_000245.4(MET):c.199A>G (p.Thr67Ala)
|
rs202047059
|
0.00001
|
NM_000245.4(MET):c.2073A>G (p.Ser691=)
|
rs765318603
|
0.00001
|
NM_000245.4(MET):c.2076T>G (p.Ile692Met)
|
rs752740791
|
0.00001
|
NM_000245.4(MET):c.2097A>G (p.Leu699=)
|
rs199585804
|
0.00001
|
NM_000245.4(MET):c.2118T>C (p.Ile706=)
|
rs958023403
|
0.00001
|
NM_000245.4(MET):c.2124A>G (p.Glu708=)
|
rs769757694
|
0.00001
|
NM_000245.4(MET):c.2128T>C (p.Tyr710His)
|
rs1794273981
|
0.00001
|
NM_000245.4(MET):c.2130T>C (p.Tyr710=)
|
rs775235138
|
0.00001
|
NM_000245.4(MET):c.2136A>G (p.Pro712=)
|
rs774439479
|
0.00001
|
NM_000245.4(MET):c.215T>C (p.Val72Ala)
|
rs973796037
|
0.00001
|
NM_000245.4(MET):c.2191C>A (p.Arg731=)
|
rs377336878
|
0.00001
|
NM_000245.4(MET):c.2192G>A (p.Arg731Gln)
|
rs45446492
|
0.00001
|
NM_000245.4(MET):c.2196G>A (p.Glu732=)
|
rs1376208948
|
0.00001
|
NM_000245.4(MET):c.2260A>G (p.Ile754Val)
|
rs1060503539
|
0.00001
|
NM_000245.4(MET):c.2265-23A>G
|
rs750004615
|
0.00001
|
NM_000245.4(MET):c.2265-26G>A
|
rs552953455
|
0.00001
|
NM_000245.4(MET):c.2278A>G (p.Ile760Val)
|
rs786202191
|
0.00001
|
NM_000245.4(MET):c.2303A>G (p.Asn768Ser)
|
rs749126070
|
0.00001
|
NM_000245.4(MET):c.230A>C (p.Asp77Ala)
|
rs761221409
|
0.00001
|
NM_000245.4(MET):c.2333A>C (p.Asn778Thr)
|
rs1205392044
|
0.00001
|
NM_000245.4(MET):c.2339A>G (p.His780Arg)
|
rs375523121
|
0.00001
|
NM_000245.4(MET):c.2357T>C (p.Phe786Ser)
|
rs1794313226
|
0.00001
|
NM_000245.4(MET):c.2362G>A (p.Val788Met)
|
rs1489302008
|
0.00001
|
NM_000245.4(MET):c.2370T>C (p.Cys790=)
|
rs942322578
|
0.00001
|
NM_000245.4(MET):c.2393T>G (p.Ile798Arg)
|
rs764960693
|
0.00001
|
NM_000245.4(MET):c.241G>T (p.Val81Phe)
|
rs757883355
|
0.00001
|
NM_000245.4(MET):c.2439C>T (p.Leu813=)
|
rs757296777
|
0.00001
|
NM_000245.4(MET):c.2441C>T (p.Pro814Leu)
|
rs781452657
|
0.00001
|
NM_000245.4(MET):c.2466G>A (p.Met822Ile)
|
rs780538636
|
0.00001
|
NM_000245.4(MET):c.2471A>G (p.Asp824Gly)
|
rs1446482547
|
0.00001
|
NM_000245.4(MET):c.2493T>G (p.Phe831Leu)
|
rs749730267
|
0.00001
|
NM_000245.4(MET):c.2496T>C (p.Asp832=)
|
rs769035394
|
0.00001
|
NM_000245.4(MET):c.249G>C (p.Glu83Asp)
|
rs751158831
|
0.00001
|
NM_000245.4(MET):c.2501T>C (p.Ile834Thr)
|
rs1215872095
|
0.00001
|
NM_000245.4(MET):c.2527C>G (p.Pro843Ala)
|
rs905891313
|
0.00001
|
NM_000245.4(MET):c.2528C>G (p.Pro843Arg)
|
rs762228405
|
0.00001
|
NM_000245.4(MET):c.2547G>C (p.Met849Ile)
|
rs747989932
|
0.00001
|
NM_000245.4(MET):c.2554A>G (p.Met852Val)
|
rs762863861
|
0.00001
|
NM_000245.4(MET):c.255G>A (p.Lys85=)
|
rs1327946446
|
0.00001
|
NM_000245.4(MET):c.2591A>G (p.Asp864Gly)
|
rs778309347
|
0.00001
|
NM_000245.4(MET):c.2600C>G (p.Pro867Arg)
|
rs983062105
|
0.00001
|
NM_000245.4(MET):c.2613A>C (p.Lys871Asn)
|
rs1385709850
|
0.00001
|
NM_000245.4(MET):c.2667T>G (p.Ser889=)
|
rs1794770224
|
0.00001
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00001
|
NM_000245.4(MET):c.2685G>A (p.Thr895=)
|
rs760722037
|
0.00001
|
NM_000245.4(MET):c.268C>T (p.Leu90=)
|
rs376966336
|
0.00001
|
NM_000245.4(MET):c.2693A>G (p.Asn898Ser)
|
rs766430458
|
0.00001
|
NM_000245.4(MET):c.2698C>G (p.Leu900Val)
|
rs1398243931
|
0.00001
|
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr)
|
rs1313347428
|
0.00001
|
NM_000245.4(MET):c.2714G>A (p.Ser905Asn)
|
rs753091019
|
0.00001
|
NM_000245.4(MET):c.2716G>A (p.Glu906Lys)
|
rs778115147
|
0.00001
|
NM_000245.4(MET):c.2754C>T (p.Thr918=)
|
rs770886012
|
0.00001
|
NM_000245.4(MET):c.2795C>T (p.Thr932Ile)
|
rs758486777
|
0.00001
|
NM_000245.4(MET):c.279A>C (p.Pro93=)
|
rs780928472
|
0.00001
|
NM_000245.4(MET):c.2802G>C (p.Leu934Phe)
|
rs1361155132
|
0.00001
|
NM_000245.4(MET):c.2805T>A (p.Ile935=)
|
rs763131600
|
0.00001
|
NM_000245.4(MET):c.280G>T (p.Asp94Tyr)
|
rs899151863
|
0.00001
|
NM_000245.4(MET):c.281A>G (p.Asp94Gly)
|
rs368328347
|
0.00001
|
NM_000245.4(MET):c.2851T>C (p.Phe951Leu)
|
rs756670611
|
0.00001
|
NM_000245.4(MET):c.2905G>C (p.Val969Leu)
|
rs757925979
|
0.00001
|
NM_000245.4(MET):c.291A>G (p.Pro97=)
|
rs1584876383
|
0.00001
|
NM_000245.4(MET):c.2974A>G (p.Thr992Ala)
|
rs774433287
|
0.00001
|
NM_000245.4(MET):c.2977A>G (p.Thr993Ala)
|
rs587778441
|
0.00001
|
NM_000245.4(MET):c.297G>A (p.Gln99=)
|
rs1584876390
|
0.00001
|
NM_000245.4(MET):c.2986G>A (p.Val996Ile)
|
rs773447798
|
0.00001
|
NM_000245.4(MET):c.302G>A (p.Cys101Tyr)
|
rs1791473684
|
0.00001
|
NM_000245.4(MET):c.3030T>A (p.Asp1010Glu)
|
rs565938550
|
0.00001
|
NM_000245.4(MET):c.3064C>T (p.Arg1022Ter)
|
rs1193441628
|
0.00001
|
NM_000245.4(MET):c.306C>G (p.Ser102Arg)
|
rs749383450
|
0.00001
|
NM_000245.4(MET):c.308G>A (p.Ser103Asn)
|
rs768675699
|
0.00001
|
NM_000245.4(MET):c.3091A>G (p.Met1031Val)
|
rs45564937
|
0.00001
|
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile)
|
rs758440368
|
0.00001
|
NM_000245.4(MET):c.3133C>A (p.Pro1045Thr)
|
rs1794949971
|
0.00001
|
NM_000245.4(MET):c.3134C>G (p.Pro1045Arg)
|
rs1554398862
|
0.00001
|
NM_000245.4(MET):c.3149C>G (p.Thr1050Ser)
|
rs1179812872
|
0.00001
|
NM_000245.4(MET):c.3152T>C (p.Val1051Ala)
|
rs1319458719
|
0.00001
|
NM_000245.4(MET):c.3155A>G (p.His1052Arg)
|
rs763398740
|
0.00001
|
NM_000245.4(MET):c.315C>T (p.Ala105=)
|
rs1428685262
|
0.00001
|
NM_000245.4(MET):c.3195A>G (p.Ala1065=)
|
rs1794952295
|
0.00001
|
NM_000245.4(MET):c.3200A>G (p.Gln1067Arg)
|
rs1554398900
|
0.00001
|
NM_000245.4(MET):c.3208G>A (p.Val1070Met)
|
rs760285693
|
0.00001
|
NM_000245.4(MET):c.3217C>T (p.Pro1073Ser)
|
rs398123569
|
0.00001
|
NM_000245.4(MET):c.3220A>G (p.Ser1074Gly)
|
rs764947837
|
0.00001
|
NM_000245.4(MET):c.3231T>A (p.Ile1077=)
|
rs1251215478
|
0.00001
|
NM_000245.4(MET):c.3239T>C (p.Phe1080Ser)
|
rs1794954978
|
0.00001
|
NM_000245.4(MET):c.3242A>G (p.Asn1081Ser)
|
rs764213589
|
0.00001
|
NM_000245.4(MET):c.3250A>G (p.Ile1084Val)
|
rs757539632
|
0.00001
|
NM_000245.4(MET):c.3260-4A>G
|
rs864622521
|
0.00001
|
NM_000245.4(MET):c.3261G>A (p.Gly1087=)
|
rs1422966258
|
0.00001
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
NM_000245.4(MET):c.3276A>T (p.Val1092=)
|
rs757338659
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000245.4(MET):c.3289T>C (p.Leu1097=)
|
rs45583838
|
0.00001
|
NM_000245.4(MET):c.3318C>T (p.His1106=)
|
rs755500683
|
0.00001
|
NM_000245.4(MET):c.331G>A (p.Val111Ile)
|
rs368750834
|
0.00001
|
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn)
|
rs367634278
|
0.00001
|
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)
|
rs1394199299
|
0.00001
|
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu)
|
rs375395179
|
0.00001
|
NM_000245.4(MET):c.3423G>A (p.Ser1141=)
|
rs567551556
|
0.00001
|
NM_000245.4(MET):c.3427C>T (p.Leu1143=)
|
rs774334135
|
0.00001
|
NM_000245.4(MET):c.3430G>A (p.Gly1144Arg)
|
rs1795070539
|
0.00001
|
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln)
|
rs761808213
|
0.00001
|
NM_000245.4(MET):c.3495T>C (p.Leu1165=)
|
rs758902071
|
0.00001
|
NM_000245.4(MET):c.3508C>T (p.Arg1170Ter)
|
rs200754673
|
0.00001
|
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln)
|
rs369838973
|
0.00001
|
NM_000245.4(MET):c.3517A>G (p.Thr1173Ala)
|
rs779636840
|
0.00001
|
NM_000245.4(MET):c.356C>T (p.Ala119Val)
|
rs904162290
|
0.00001
|
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr)
|
rs970206545
|
0.00001
|
NM_000245.4(MET):c.3594A>G (p.Lys1198=)
|
rs199883640
|
0.00001
|
NM_000245.4(MET):c.3597G>A (p.Lys1199=)
|
rs1795174174
|
0.00001
|
NM_000245.4(MET):c.362T>C (p.Val121Ala)
|
rs879254339
|
0.00001
|
NM_000245.4(MET):c.366C>T (p.Val122=)
|
rs202026780
|
0.00001
|
NM_000245.4(MET):c.3672T>C (p.Gly1224=)
|
rs762218595
|
0.00001
|
NM_000245.4(MET):c.3684C>T (p.Asp1228=)
|
rs786201612
|
0.00001
|
NM_000245.4(MET):c.3685A>G (p.Met1229Val)
|
rs768125521
|
0.00001
|
NM_000245.4(MET):c.3727G>A (p.Ala1243Thr)
|
rs752351789
|
0.00001
|
NM_000245.4(MET):c.3735G>A (p.Leu1245=)
|
rs1323787899
|
0.00001
|
NM_000245.4(MET):c.3804C>G (p.Ser1268=)
|
rs764822445
|
0.00001
|
NM_000245.4(MET):c.3859G>A (p.Val1287Ile)
|
rs780102059
|
0.00001
|
NM_000245.4(MET):c.3864C>T (p.Asn1288=)
|
rs768627036
|
0.00001
|
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)
|
rs779121848
|
0.00001
|
NM_000245.4(MET):c.3916G>A (p.Glu1306Lys)
|
rs1436537175
|
0.00001
|
NM_000245.4(MET):c.391A>G (p.Ile131Val)
|
rs1309236031
|
0.00001
|
NM_000245.4(MET):c.3950T>A (p.Leu1317Gln)
|
rs1159812687
|
0.00001
|
NM_000245.4(MET):c.3960G>A (p.Trp1320Ter)
|
rs1174194833
|
0.00001
|
NM_000245.4(MET):c.3966T>A (p.Pro1322=)
|
rs372608840
|
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.3980G>A (p.Arg1327His)
|
rs1443741792
|
0.00001
|
NM_000245.4(MET):c.3997C>G (p.Leu1333Val)
|
rs758738756
|
0.00001
|
NM_000245.4(MET):c.4008G>A (p.Arg1336=)
|
rs373857586
|
0.00001
|
NM_000245.4(MET):c.400G>A (p.Gly134Ser)
|
rs1584876675
|
0.00001
|
NM_000245.4(MET):c.4042C>A (p.His1348Asn)
|
rs773772398
|
0.00001
|
NM_000245.4(MET):c.405C>T (p.Ser135=)
|
rs200494620
|
0.00001
|
NM_000245.4(MET):c.4068T>C (p.Tyr1356=)
|
rs767214353
|
0.00001
|
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr)
|
rs766190061
|
0.00001
|
NM_000245.4(MET):c.4097C>A (p.Pro1366His)
|
rs778084120
|
0.00001
|
NM_000245.4(MET):c.4119T>C (p.Asp1373=)
|
rs771571698
|
0.00001
|
NM_000245.4(MET):c.4122C>T (p.Asn1374=)
|
rs370767911
|
0.00001
|
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)
|
rs758486336
|
0.00001
|
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr)
|
rs764303128
|
0.00001
|
NM_000245.4(MET):c.433G>A (p.Val145Ile)
|
rs1410705895
|
0.00001
|
NM_000245.4(MET):c.446A>G (p.Asn149Ser)
|
rs772398152
|
0.00001
|
NM_000245.4(MET):c.448C>T (p.His150Tyr)
|
rs1436957498
|
0.00001
|
NM_000245.4(MET):c.462A>G (p.Ile154Met)
|
rs771146873
|
0.00001
|
NM_000245.4(MET):c.481A>G (p.Ile161Val)
|
rs1584876914
|
0.00001
|
NM_000245.4(MET):c.490C>G (p.Pro164Ala)
|
rs765759353
|
0.00001
|
NM_000245.4(MET):c.50C>T (p.Thr17Ile)
|
rs747777018
|
0.00001
|
NM_000245.4(MET):c.527T>C (p.Val176Ala)
|
rs1343674412
|
0.00001
|
NM_000245.4(MET):c.531G>A (p.Val177=)
|
rs755804127
|
0.00001
|
NM_000245.4(MET):c.543A>C (p.Gly181=)
|
rs1316581869
|
0.00001
|
NM_000245.4(MET):c.546C>A (p.Ala182=)
|
rs570036369
|
0.00001
|
NM_000245.4(MET):c.553C>A (p.Leu185Ile)
|
rs376097698
|
0.00001
|
NM_000245.4(MET):c.572G>A (p.Arg191Gln)
|
rs879254342
|
0.00001
|
NM_000245.4(MET):c.573G>T (p.Arg191=)
|
rs1433702089
|
0.00001
|
NM_000245.4(MET):c.585C>T (p.Phe195=)
|
rs587780737
|
0.00001
|
NM_000245.4(MET):c.599C>A (p.Thr200Asn)
|
rs786202727
|
0.00001
|
NM_000245.4(MET):c.600C>G (p.Thr200=)
|
rs1225303075
|
0.00001
|
NM_000245.4(MET):c.624T>C (p.Asp208=)
|
rs1285814811
|
0.00001
|
NM_000245.4(MET):c.625C>T (p.His209Tyr)
|
rs866183824
|
0.00001
|
NM_000245.4(MET):c.62G>A (p.Arg21Lys)
|
rs964356368
|
0.00001
|
NM_000245.4(MET):c.630A>G (p.Pro210=)
|
rs770257335
|
0.00001
|
NM_000245.4(MET):c.631T>C (p.Leu211=)
|
rs1584877307
|
0.00001
|
NM_000245.4(MET):c.65G>T (p.Ser22Ile)
|
rs587780739
|
0.00001
|
NM_000245.4(MET):c.669A>G (p.Lys223=)
|
rs863224380
|
0.00001
|
NM_000245.4(MET):c.670G>T (p.Asp224Tyr)
|
rs765257726
|
0.00001
|
NM_000245.4(MET):c.675T>C (p.Gly225=)
|
rs368249740
|
0.00001
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
NM_000245.4(MET):c.704T>C (p.Ile235Thr)
|
rs1060503530
|
0.00001
|
NM_000245.4(MET):c.716C>T (p.Pro239Leu)
|
rs45551737
|
0.00001
|
NM_000245.4(MET):c.738C>T (p.Pro246=)
|
rs1461455526
|
0.00001
|
NM_000245.4(MET):c.768C>T (p.Asn256=)
|
rs1221580502
|
0.00001
|
NM_000245.4(MET):c.769A>G (p.Asn257Asp)
|
rs776407390
|
0.00001
|
NM_000245.4(MET):c.800A>G (p.Glu267Gly)
|
rs751564290
|
0.00001
|
NM_000245.4(MET):c.805C>T (p.Leu269=)
|
rs781257386
|
0.00001
|
NM_000245.4(MET):c.808G>C (p.Asp270His)
|
rs1060503542
|
0.00001
|
NM_000245.4(MET):c.821T>C (p.Phe274Ser)
|
rs758569834
|
0.00001
|
NM_000245.4(MET):c.828A>G (p.Thr276=)
|
rs779512046
|
0.00001
|
NM_000245.4(MET):c.840G>T (p.Arg280Ser)
|
rs1207381066
|
0.00001
|
NM_000245.4(MET):c.866A>G (p.His289Arg)
|
rs1584877845
|
0.00001
|
NM_000245.4(MET):c.88C>T (p.Leu30=)
|
rs1060504939
|
0.00001
|
NM_000245.4(MET):c.912A>G (p.Arg304=)
|
rs762885066
|
0.00001
|
NM_000245.4(MET):c.965T>C (p.Val322Ala)
|
rs1306040798
|
0.00001
|
NM_000245.4(MET):c.974C>T (p.Pro325Leu)
|
rs780802614
|
0.00001
|
NM_000245.4(MET):c.983A>G (p.Gln328Arg)
|
rs1165913241
|
0.00001
|
NM_000245.4(MET):c.99C>T (p.Ser33=)
|
rs1363905218
|
0.00001
|
NM_000245.4(MET):c.-3A>T
|
rs963663507
|
|
NM_000245.4(MET):c.1000G>A (p.Gly334Arg)
|
|
|
NM_000245.4(MET):c.1002A>G (p.Gly334=)
|
|
|
NM_000245.4(MET):c.1007G>C (p.Ser336Thr)
|
|
|
NM_000245.4(MET):c.1008C>G (p.Ser336Arg)
|
rs1584878137
|
|
NM_000245.4(MET):c.1010T>G (p.Leu337Arg)
|
|
|
NM_000245.4(MET):c.1014T>A (p.Asn338Lys)
|
|
|
NM_000245.4(MET):c.1014T>C (p.Asn338=)
|
rs2116603344
|
|
NM_000245.4(MET):c.1015G>A (p.Asp339Asn)
|
rs1463245808
|
|
NM_000245.4(MET):c.1024C>G (p.Leu342Val)
|
rs749082043
|
|
NM_000245.4(MET):c.1029C>T (p.Phe343=)
|
rs56340719
|
|
NM_000245.4(MET):c.1032G>T (p.Gly344=)
|
rs1457756402
|
|
NM_000245.4(MET):c.1035G>T (p.Val345=)
|
|
|
NM_000245.4(MET):c.1036T>C (p.Phe346Leu)
|
rs1791514789
|
|
NM_000245.4(MET):c.1041A>C (p.Ala347=)
|
rs1791515202
|
|
NM_000245.4(MET):c.1041A>G (p.Ala347=)
|
|
|
NM_000245.4(MET):c.1043A>T (p.Gln348Leu)
|
|
|
NM_000245.4(MET):c.1044A>G (p.Gln348=)
|
|
|
NM_000245.4(MET):c.1046G>A (p.Ser349Asn)
|
rs1584878246
|
|
NM_000245.4(MET):c.1048A>T (p.Lys350Ter)
|
|
|
NM_000245.4(MET):c.104T>C (p.Met35Thr)
|
|
|
NM_000245.4(MET):c.1050G>A (p.Lys350=)
|
rs1060504940
|
|
NM_000245.4(MET):c.1051C>A (p.Pro351Thr)
|
|
|
NM_000245.4(MET):c.1051C>G (p.Pro351Ala)
|
rs587782807
|
|
NM_000245.4(MET):c.1058C>T (p.Ser353Phe)
|
rs1791516755
|
|
NM_000245.4(MET):c.105G>T (p.Met35Ile)
|
|
|
NM_000245.4(MET):c.1061C>A (p.Ala354Asp)
|
|
|
NM_000245.4(MET):c.1062C>G (p.Ala354=)
|
|
|
NM_000245.4(MET):c.1065A>G (p.Glu355=)
|
rs1584878304
|
|
NM_000245.4(MET):c.1066C>A (p.Pro356Thr)
|
|
|
NM_000245.4(MET):c.1067C>T (p.Pro356Leu)
|
|
|
NM_000245.4(MET):c.1067del (p.Pro356fs)
|
|
|
NM_000245.4(MET):c.1072G>C (p.Asp358His)
|
rs758919662
|
|
NM_000245.4(MET):c.1073A>C (p.Asp358Ala)
|
rs1326405747
|
|
NM_000245.4(MET):c.1075C>T (p.Arg359Ter)
|
|
|
NM_000245.4(MET):c.1084A>G (p.Met362Val)
|
|
|
NM_000245.4(MET):c.1086G>A (p.Met362Ile)
|
rs779724665
|
|
NM_000245.4(MET):c.1088G>A (p.Cys363Tyr)
|
rs1472858680
|
|
NM_000245.4(MET):c.108T>C (p.Asn36=)
|
rs2116580390
|
|
NM_000245.4(MET):c.1090G>T (p.Ala364Ser)
|
|
|
NM_000245.4(MET):c.1106A>G (p.Tyr369Cys)
|
rs370314484
|
|
NM_000245.4(MET):c.1107T>C (p.Tyr369=)
|
rs1554379127
|
|
NM_000245.4(MET):c.110T>G (p.Val37Gly)
|
|
|
NM_000245.4(MET):c.1113C>A (p.Asn371Lys)
|
rs772014416
|
|
NM_000245.4(MET):c.1114G>A (p.Asp372Asn)
|
rs773200558
|
|
NM_000245.4(MET):c.1116C>T (p.Asp372=)
|
|
|
NM_000245.4(MET):c.1125C>G (p.Asn375Lys)
|
rs776693512
|
|
NM_000245.4(MET):c.1125C>T (p.Asn375=)
|
rs776693512
|
|
NM_000245.4(MET):c.1129A>G (p.Ile377Val)
|
rs1554379158
|
|
NM_000245.4(MET):c.1130T>C (p.Ile377Thr)
|
|
|
NM_000245.4(MET):c.1131C>A (p.Ile377=)
|
rs28444388
|
|
NM_000245.4(MET):c.1134C>G (p.Val378=)
|
rs1290039988
|
|
NM_000245.4(MET):c.1136A>G (p.Asn379Ser)
|
rs1320718414
|
|
NM_000245.4(MET):c.1149G>T (p.Val383=)
|
|
|
NM_000245.4(MET):c.114T>A (p.Asn38Lys)
|
rs863224693
|
|
NM_000245.4(MET):c.1151G>T (p.Arg384Ile)
|
|
|
NM_000245.4(MET):c.1151_1152delinsTG (p.Arg384Met)
|
|
|
NM_000245.4(MET):c.1152A>G (p.Arg384=)
|
rs2116606658
|
|
NM_000245.4(MET):c.1153T>C (p.Cys385Arg)
|
|
|
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)
|
rs1554379180
|
|
NM_000245.4(MET):c.1158C>A (p.Leu386=)
|
|
|
NM_000245.4(MET):c.1158C>T (p.Leu386=)
|
rs1554379184
|
|
NM_000245.4(MET):c.1160A>G (p.Gln387Arg)
|
rs1791523699
|
|
NM_000245.4(MET):c.116T>C (p.Met39Thr)
|
rs879254330
|
|
NM_000245.4(MET):c.1170C>T (p.Tyr390=)
|
rs45552236
|
|
NM_000245.4(MET):c.1172G>T (p.Gly391Val)
|
rs1584878602
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1179T>C (p.Asn393=)
|
|
|
NM_000245.4(MET):c.1182T>C (p.His394=)
|
|
|
NM_000245.4(MET):c.1185_1186delinsAT (p.His396Tyr)
|
rs1584878668
|
|
NM_000245.4(MET):c.1186C>A (p.His396Asn)
|
rs1282638781
|
|
NM_000245.4(MET):c.1186C>T (p.His396Tyr)
|
|
|
NM_000245.4(MET):c.1187A>C (p.His396Pro)
|
rs2116607543
|
|
NM_000245.4(MET):c.1194T>C (p.Phe398=)
|
|
|
NM_000245.4(MET):c.119A>T (p.Lys40Met)
|
rs1210616219
|
|
NM_000245.4(MET):c.1200+2T>C
|
|
|
NM_000245.4(MET):c.1200G>A (p.Arg400=)
|
rs1554379254
|
|
NM_000245.4(MET):c.1201-3C>A
|
|
|
NM_000245.4(MET):c.1201A>G (p.Thr401Ala)
|
|
|
NM_000245.4(MET):c.1202C>A (p.Thr401Lys)
|
|
|
NM_000245.4(MET):c.1203A>G (p.Thr401=)
|
rs199892100
|
|
NM_000245.4(MET):c.1204C>A (p.Leu402Ile)
|
rs45441497
|
|
NM_000245.4(MET):c.1207C>A (p.Leu403Met)
|
rs202236031
|
|
NM_000245.4(MET):c.1218A>G (p.Ser406=)
|
rs1358705636
|
|
NM_000245.4(MET):c.1220C>T (p.Ser407Leu)
|
rs764580322
|
|
NM_000245.4(MET):c.1224C>T (p.Gly408=)
|
|
|
NM_000245.4(MET):c.1227T>C (p.Cys409=)
|
|
|
NM_000245.4(MET):c.122A>G (p.Tyr41Cys)
|
rs780358093
|
|
NM_000245.4(MET):c.1237C>G (p.Arg413Gly)
|
|
|
NM_000245.4(MET):c.1238G>T (p.Arg413Leu)
|
rs375391602
|
|
NM_000245.4(MET):c.123T>C (p.Tyr41=)
|
|
|
NM_000245.4(MET):c.1245A>G (p.Glu415=)
|
rs2116780402
|
|
NM_000245.4(MET):c.1250G>C (p.Arg417Pro)
|
rs2116780504
|
|
NM_000245.4(MET):c.1257G>A (p.Glu419=)
|
|
|
NM_000245.4(MET):c.1263C>A (p.Thr421=)
|
rs45499391
|
|
NM_000245.4(MET):c.1265C>T (p.Thr422Ile)
|
rs1793012257
|
|
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
|
|
|
NM_000245.4(MET):c.126G>C (p.Gln42His)
|
|
|
NM_000245.4(MET):c.1272G>A (p.Leu424=)
|
rs1342295714
|
|
NM_000245.4(MET):c.1275G>A (p.Gln425=)
|
|
|
NM_000245.4(MET):c.1275G>T (p.Gln425His)
|
|
|
NM_000245.4(MET):c.1285T>A (p.Leu429Ile)
|
rs911380470
|
|
NM_000245.4(MET):c.1286T>C (p.Leu429Ser)
|
|
|
NM_000245.4(MET):c.1287A>C (p.Leu429Phe)
|
rs1793014361
|
|
NM_000245.4(MET):c.128T>C (p.Leu43Pro)
|
rs1487106127
|
|
NM_000245.4(MET):c.1290C>G (p.Phe430Leu)
|
rs1194542748
|
|
NM_000245.4(MET):c.1294G>A (p.Gly432Ser)
|
|
|
NM_000245.4(MET):c.1296T>G (p.Gly432=)
|
rs200255054
|
|
NM_000245.4(MET):c.1297C>G (p.Gln433Glu)
|
rs1584914144
|
|
NM_000245.4(MET):c.1300T>C (p.Phe434Leu)
|
|
|
NM_000245.4(MET):c.1304G>A (p.Ser435Asn)
|
rs199761604
|
|
NM_000245.4(MET):c.1308A>G (p.Glu436=)
|
|
|
NM_000245.4(MET):c.1311C>G (p.Val437=)
|
|
|
NM_000245.4(MET):c.1312C>A (p.Leu438Ile)
|
|
|
NM_000245.4(MET):c.1312C>T (p.Leu438Phe)
|
|
|
NM_000245.4(MET):c.1317A>G (p.Leu439=)
|
rs2116782479
|
|
NM_000245.4(MET):c.131C>A (p.Pro44His)
|
rs1554378225
|
|
NM_000245.4(MET):c.1324A>G (p.Ile442Val)
|
|
|
NM_000245.4(MET):c.132C>T (p.Pro44=)
|
|
|
NM_000245.4(MET):c.1330A>G (p.Thr444Ala)
|
rs2116782829
|
|
NM_000245.4(MET):c.1332C>T (p.Thr444=)
|
|
|
NM_000245.4(MET):c.1336A>T (p.Ile446Phe)
|
|
|
NM_000245.4(MET):c.1340A>G (p.Lys447Arg)
|
rs1584914259
|
|
NM_000245.4(MET):c.1342G>A (p.Gly448Arg)
|
rs1584914261
|
|
NM_000245.4(MET):c.1342G>C (p.Gly448Arg)
|
|
|
NM_000245.4(MET):c.1353C>A (p.Thr451=)
|
|
|
NM_000245.4(MET):c.1354A>G (p.Ile452Val)
|
rs1793018926
|
|
NM_000245.4(MET):c.135C>G (p.Asn45Lys)
|
rs1562883006
|
|
NM_000245.4(MET):c.1362T>C (p.Asn454=)
|
|
|
NM_000245.4(MET):c.1363C>A (p.Leu455Ile)
|
rs780077898
|
|
NM_000245.4(MET):c.1368G>A (p.Gly456=)
|
|
|
NM_000245.4(MET):c.1375G>A (p.Glu459Lys)
|
|
|
NM_000245.4(MET):c.1376A>G (p.Glu459Gly)
|
|
|
NM_000245.4(MET):c.1381C>T (p.Arg461Cys)
|
rs1584914359
|
|
NM_000245.4(MET):c.1388T>A (p.Met463Lys)
|
rs1584914382
|
|
NM_000245.4(MET):c.1389G>C (p.Met463Ile)
|
|
|
NM_000245.4(MET):c.1390C>G (p.Gln464Glu)
|
rs1584914402
|
|
NM_000245.4(MET):c.1393-3T>C
|
|
|
NM_000245.4(MET):c.1393G>A (p.Val465Ile)
|
rs754969545
|
|
NM_000245.4(MET):c.1399G>A (p.Val467Ile)
|
rs1004264326
|
|
NM_000245.4(MET):c.13G>T (p.Ala5Ser)
|
|
|
NM_000245.4(MET):c.1404T>A (p.Ser468=)
|
rs1584921949
|
|
NM_000245.4(MET):c.1406G>C (p.Arg469Pro)
|
rs752842662
|
|
NM_000245.4(MET):c.1408T>C (p.Ser470Pro)
|
|
|
NM_000245.4(MET):c.1411G>A (p.Gly471Arg)
|
rs1207715563
|
|
NM_000245.4(MET):c.1412G>C (p.Gly471Ala)
|
|
|
NM_000245.4(MET):c.1415C>T (p.Pro472Leu)
|
rs1793379533
|
|
NM_000245.4(MET):c.1416A>G (p.Pro472=)
|
|
|
NM_000245.4(MET):c.1417T>C (p.Ser473Pro)
|
rs2116826038
|
|
NM_000245.4(MET):c.141C>G (p.Thr47=)
|
rs864622222
|
|
NM_000245.4(MET):c.1421C>A (p.Thr474Asn)
|
rs1554390902
|
|
NM_000245.4(MET):c.1422C>T (p.Thr474=)
|
|
|
NM_000245.4(MET):c.1423C>T (p.Pro475Ser)
|
|
|
NM_000245.4(MET):c.1424C>T (p.Pro475Leu)
|
rs1793380035
|
|
NM_000245.4(MET):c.1425T>A (p.Pro475=)
|
|
|
NM_000245.4(MET):c.1427A>G (p.His476Arg)
|
|
|
NM_000245.4(MET):c.1428T>C (p.His476=)
|
rs1432416607
|
|
NM_000245.4(MET):c.1431G>A (p.Val477=)
|
|
|
NM_000245.4(MET):c.143C>T (p.Ala48Val)
|
rs80256822
|
|
NM_000245.4(MET):c.1441C>A (p.Leu481Met)
|
rs1012909374
|
|
NM_000245.4(MET):c.1447T>C (p.Ser483Pro)
|
rs1584922011
|
|
NM_000245.4(MET):c.1449C>T (p.Ser483=)
|
rs1458827441
|
|
NM_000245.4(MET):c.1455A>C (p.Pro485=)
|
|
|
NM_000245.4(MET):c.1455A>G (p.Pro485=)
|
rs1554390925
|
|
NM_000245.4(MET):c.1459T>A (p.Ser487Thr)
|
rs1584922045
|
|
NM_000245.4(MET):c.145G>A (p.Glu49Lys)
|
rs1060503528
|
|
NM_000245.4(MET):c.1462C>T (p.Pro488Ser)
|
|
|
NM_000245.4(MET):c.1465G>C (p.Glu489Gln)
|
|
|
NM_000245.4(MET):c.146A>C (p.Glu49Ala)
|
rs370499060
|
|
NM_000245.4(MET):c.1470G>A (p.Val490=)
|
|
|
NM_000245.4(MET):c.1470G>C (p.Val490=)
|
rs1281860482
|
|
NM_000245.4(MET):c.1472T>C (p.Ile491Thr)
|
rs561588772
|
|
NM_000245.4(MET):c.1473T>C (p.Ile491=)
|
|
|
NM_000245.4(MET):c.1475T>G (p.Val492Gly)
|
|
|
NM_000245.4(MET):c.1476G>A (p.Val492=)
|
|
|
NM_000245.4(MET):c.1476G>T (p.Val492=)
|
rs528788133
|
|
NM_000245.4(MET):c.1479G>A (p.Glu493=)
|
rs1793383550
|
|
NM_000245.4(MET):c.1483A>C (p.Thr495Pro)
|
rs1793383674
|
|
NM_000245.4(MET):c.1483A>G (p.Thr495Ala)
|
|
|
NM_000245.4(MET):c.1484C>G (p.Thr495Arg)
|
rs45585831
|
|
NM_000245.4(MET):c.1489A>G (p.Asn497Asp)
|
rs766209435
|
|
NM_000245.4(MET):c.1491C>A (p.Asn497Lys)
|
|
|
NM_000245.4(MET):c.1493A>G (p.Gln498Arg)
|
|
|
NM_000245.4(MET):c.1496A>C (p.Asn499Thr)
|
rs1253878709
|
|
NM_000245.4(MET):c.1498G>A (p.Gly500Ser)
|
|
|
NM_000245.4(MET):c.149C>A (p.Thr50Lys)
|
|
|
NM_000245.4(MET):c.1506A>T (p.Thr502=)
|
|
|
NM_000245.4(MET):c.1512T>C (p.Val504=)
|
|
|
NM_000245.4(MET):c.1515C>T (p.Ile505=)
|
rs1424420830
|
|
NM_000245.4(MET):c.1518T>C (p.Thr506=)
|
rs902884572
|
|
NM_000245.4(MET):c.1519G>A (p.Gly507Arg)
|
|
|
NM_000245.4(MET):c.1524G>A (p.Lys508=)
|
|
|
NM_000245.4(MET):c.1528-5C>G
|
|
|
NM_000245.4(MET):c.1530C>T (p.Ile510=)
|
|
|
NM_000245.4(MET):c.1533G>C (p.Thr511=)
|
|
|
NM_000245.4(MET):c.1535A>C (p.Lys512Thr)
|
rs1793417875
|
|
NM_000245.4(MET):c.1536G>T (p.Lys512Asn)
|
rs1584923073
|
|
NM_000245.4(MET):c.1538T>C (p.Ile513Thr)
|
rs1584923080
|
|
NM_000245.4(MET):c.1540C>T (p.Pro514Ser)
|
|
|
NM_000245.4(MET):c.1541C>T (p.Pro514Leu)
|
|
|
NM_000245.4(MET):c.1542A>G (p.Pro514=)
|
rs1584923096
|
|
NM_000245.4(MET):c.1547A>G (p.Asn516Ser)
|
|
|
NM_000245.4(MET):c.1548T>C (p.Asn516=)
|
rs1554391232
|
|
NM_000245.4(MET):c.1551C>G (p.Gly517=)
|
|
|
NM_000245.4(MET):c.1557C>G (p.Gly519=)
|
|
|
NM_000245.4(MET):c.1558T>C (p.Cys520Arg)
|
rs1584923126
|
|
NM_000245.4(MET):c.1561A>G (p.Arg521Gly)
|
rs1176112251
|
|
NM_000245.4(MET):c.1565A>G (p.His522Arg)
|
|
|
NM_000245.4(MET):c.1570C>G (p.Gln524Glu)
|
rs2116834835
|
|
NM_000245.4(MET):c.1570C>T (p.Gln524Ter)
|
|
|
NM_000245.4(MET):c.1572G>C (p.Gln524His)
|
|
|
NM_000245.4(MET):c.1577G>A (p.Cys526Tyr)
|
rs1584923176
|
|
NM_000245.4(MET):c.157C>G (p.Gln53Glu)
|
|
|
NM_000245.4(MET):c.1587C>A (p.Cys529Ter)
|
|
|
NM_000245.4(MET):c.158A>G (p.Gln53Arg)
|
rs1002286461
|
|
NM_000245.4(MET):c.1594G>A (p.Ala532Thr)
|
rs1793421596
|
|
NM_000245.4(MET):c.1599A>T (p.Pro533=)
|
|
|
NM_000245.4(MET):c.1600C>T (p.Pro534Ser)
|
rs200283364
|
|
NM_000245.4(MET):c.1601C>T (p.Pro534Leu)
|
rs1793422444
|
|
NM_000245.4(MET):c.1602C>G (p.Pro534=)
|
|
|
NM_000245.4(MET):c.1606G>C (p.Val536Leu)
|
|
|
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
|
|
|
NM_000245.4(MET):c.1611G>A (p.Gln537=)
|
|
|
NM_000245.4(MET):c.1618T>A (p.Trp540Arg)
|
|
|
NM_000245.4(MET):c.161A>C (p.Asn54Thr)
|
|
|
NM_000245.4(MET):c.1620G>A (p.Trp540Ter)
|
|
|
NM_000245.4(MET):c.1624C>G (p.His542Asp)
|
|
|
NM_000245.4(MET):c.1625A>G (p.His542Arg)
|
|
|
NM_000245.4(MET):c.1626C>A (p.His542Gln)
|
rs762898756
|
|
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)
|
rs763991073
|
|
NM_000245.4(MET):c.1634G>A (p.Cys545Tyr)
|
|
|
NM_000245.4(MET):c.1636dup (p.Val546fs)
|
|
|
NM_000245.4(MET):c.1638G>A (p.Val546=)
|
rs1240760202
|
|
NM_000245.4(MET):c.1639C>G (p.Arg547Gly)
|
|
|
NM_000245.4(MET):c.1640G>C (p.Arg547Pro)
|
rs761951444
|
|
NM_000245.4(MET):c.1643C>G (p.Ser548Trp)
|
|
|
NM_000245.4(MET):c.1646A>G (p.Glu549Gly)
|
|
|
NM_000245.4(MET):c.165C>T (p.Val55=)
|
|
|
NM_000245.4(MET):c.1663A>T (p.Thr555Ser)
|
|
|
NM_000245.4(MET):c.1664C>A (p.Thr555Lys)
|
|
|
NM_000245.4(MET):c.1665A>G (p.Thr555=)
|
rs1554391336
|
|
NM_000245.4(MET):c.1666T>C (p.Trp556Arg)
|
|
|
NM_000245.4(MET):c.166A>G (p.Ile56Val)
|
rs746806941
|
|
NM_000245.4(MET):c.1675C>T (p.Gln559Ter)
|
|
|
NM_000245.4(MET):c.1676A>G (p.Gln559Arg)
|
rs45460604
|
|
NM_000245.4(MET):c.1677G>A (p.Gln559=)
|
rs1290346524
|
|
NM_000245.4(MET):c.1678A>G (p.Ile560Val)
|
rs1351634349
|
|
NM_000245.4(MET):c.1680C>T (p.Ile560=)
|
|
|
NM_000245.4(MET):c.1686G>C (p.Leu562=)
|
rs2116837926
|
|
NM_000245.4(MET):c.1689T>C (p.Pro563=)
|
rs1282444375
|
|
NM_000245.4(MET):c.1691C>T (p.Ala564Val)
|
|
|
NM_000245.4(MET):c.1692A>C (p.Ala564=)
|
|
|
NM_000245.4(MET):c.1694T>G (p.Ile565Ser)
|
|
|
NM_000245.4(MET):c.16G>A (p.Val6Met)
|
|
|
NM_000245.4(MET):c.16G>T (p.Val6Leu)
|
rs1395233386
|
|
NM_000245.4(MET):c.1700A>G (p.Lys567Arg)
|
rs1793429138
|
|
NM_000245.4(MET):c.1702-1G>C
|
rs747390610
|
|
NM_000245.4(MET):c.1702-5T>A
|
|
|
NM_000245.4(MET):c.1702G>A (p.Val568Ile)
|
|
|
NM_000245.4(MET):c.1712A>G (p.Asn571Ser)
|
|
|
NM_000245.4(MET):c.1716T>C (p.Ser572=)
|
rs1382410716
|
|
NM_000245.4(MET):c.1718C>T (p.Ala573Val)
|
rs1429917144
|
|
NM_000245.4(MET):c.1719A>C (p.Ala573=)
|
rs199776656
|
|
NM_000245.4(MET):c.1722C>A (p.Pro574=)
|
rs1562920359
|
|
NM_000245.4(MET):c.1732G>A (p.Gly578Arg)
|
rs1584939128
|
|
NM_000245.4(MET):c.1735A>G (p.Thr579Ala)
|
|
|
NM_000245.4(MET):c.1741C>T (p.Leu581=)
|
rs1584939151
|
|
NM_000245.4(MET):c.1746C>T (p.Thr582=)
|
rs2116909310
|
|
NM_000245.4(MET):c.1747A>T (p.Ile583Leu)
|
|
|
NM_000245.4(MET):c.174T>G (p.His58Gln)
|
rs1554378291
|
|
NM_000245.4(MET):c.1757G>T (p.Trp586Leu)
|
|
|
NM_000245.4(MET):c.1761C>T (p.Asp587=)
|
|
|
NM_000245.4(MET):c.1764T>C (p.Phe588=)
|
rs2116909571
|
|
NM_000245.4(MET):c.1765G>C (p.Gly589Arg)
|
|
|
NM_000245.4(MET):c.1770T>G (p.Phe590Leu)
|
rs199542598
|
|
NM_000245.4(MET):c.1784A>C (p.Lys595Thr)
|
rs1584939204
|
|
NM_000245.4(MET):c.1786T>C (p.Phe596Leu)
|
|
|
NM_000245.4(MET):c.1787T>A (p.Phe596Tyr)
|
rs1330648228
|
|
NM_000245.4(MET):c.1789G>C (p.Asp597His)
|
rs769073123
|
|
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr)
|
rs769073123
|
|
NM_000245.4(MET):c.1790A>G (p.Asp597Gly)
|
|
|
NM_000245.4(MET):c.1792T>A (p.Leu598Ile)
|
|
|
NM_000245.4(MET):c.1798A>G (p.Lys600Glu)
|
|
|
NM_000245.4(MET):c.179A>G (p.His60Arg)
|
rs776426414
|
|
NM_000245.4(MET):c.1801A>G (p.Thr601Ala)
|
rs1216005099
|
|
NM_000245.4(MET):c.1803T>C (p.Thr601=)
|
rs763481809
|
|
NM_000245.4(MET):c.1805G>T (p.Arg602Ile)
|
|
|
NM_000245.4(MET):c.1810C>A (p.Leu604Ile)
|
rs201861645
|
|
NM_000245.4(MET):c.1813C>T (p.Leu605Phe)
|
rs774945178
|
|
NM_000245.4(MET):c.1817G>T (p.Gly606Val)
|
|
|
NM_000245.4(MET):c.181C>G (p.His61Asp)
|
rs368942722
|
|
NM_000245.4(MET):c.1820A>G (p.Asn607Ser)
|
rs2116910444
|
|
NM_000245.4(MET):c.1821T>A (p.Asn607Lys)
|
rs762389147
|
|
NM_000245.4(MET):c.1824G>A (p.Glu608=)
|
rs2116910513
|
|
NM_000245.4(MET):c.1825A>G (p.Ser609Gly)
|
|
|
NM_000245.4(MET):c.1826G>A (p.Ser609Asn)
|
rs1554394973
|
|
NM_000245.4(MET):c.1830C>T (p.Cys610=)
|
|
|
NM_000245.4(MET):c.1833C>A (p.Thr611=)
|
rs924927810
|
|
NM_000245.4(MET):c.1838C>A (p.Thr613Asn)
|
rs1258088041
|
|
NM_000245.4(MET):c.1848G>T (p.Glu616Asp)
|
|
|
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys)
|
rs1794145066
|
|
NM_000245.4(MET):c.184A>G (p.Ile62Val)
|
|
|
NM_000245.4(MET):c.1850G>A (p.Ser617Asn)
|
rs1481812764
|
|
NM_000245.4(MET):c.1853C>A (p.Thr618Lys)
|
|
|
NM_000245.4(MET):c.1862+1G>A
|
rs1013431413
|
|
NM_000245.4(MET):c.1863-5del
|
rs766900241
|
|
NM_000245.4(MET):c.1863-5dup
|
rs766900241
|
|
NM_000245.4(MET):c.1863A>G (p.Thr621=)
|
rs1794219866
|
|
NM_000245.4(MET):c.1865T>G (p.Leu622Trp)
|
rs1794220084
|
|
NM_000245.4(MET):c.1868A>T (p.Lys623Ile)
|
|
|
NM_000245.4(MET):c.1871G>T (p.Cys624Phe)
|
rs1794220294
|
|
NM_000245.4(MET):c.1874C>T (p.Thr625Ile)
|
|
|
NM_000245.4(MET):c.1879G>A (p.Gly627Ser)
|
|
|
NM_000245.4(MET):c.1888A>G (p.Met630Val)
|
|
|
NM_000245.4(MET):c.1893T>C (p.Asn631=)
|
|
|
NM_000245.4(MET):c.1895A>G (p.Lys632Arg)
|
|
|
NM_000245.4(MET):c.1896G>A (p.Lys632=)
|
rs749484691
|
|
NM_000245.4(MET):c.1896G>T (p.Lys632Asn)
|
rs749484691
|
|
NM_000245.4(MET):c.1898A>T (p.His633Leu)
|
rs45586239
|
|
NM_000245.4(MET):c.1902C>G (p.Phe634Leu)
|
rs772450441
|
|
NM_000245.4(MET):c.1905T>A (p.Asn635Lys)
|
|
|
NM_000245.4(MET):c.190C>G (p.Leu64Val)
|
rs1791466070
|
|
NM_000245.4(MET):c.1911C>T (p.Ser637=)
|
rs2116920428
|
|
NM_000245.4(MET):c.1912A>G (p.Ile638Val)
|
rs1060503536
|
|
NM_000245.4(MET):c.1912A>T (p.Ile638Leu)
|
rs1060503536
|
|
NM_000245.4(MET):c.1914A>G (p.Ile638Met)
|
|
|
NM_000245.4(MET):c.1917T>G (p.Ile639Met)
|
rs1554395373
|
|
NM_000245.4(MET):c.1923A>G (p.Ser641=)
|
|
|
NM_000245.4(MET):c.1924A>G (p.Asn642Asp)
|
rs1554395374
|
|
NM_000245.4(MET):c.1924A>T (p.Asn642Tyr)
|
|
|
NM_000245.4(MET):c.1926T>C (p.Asn642=)
|
rs1584941260
|
|
NM_000245.4(MET):c.1929C>T (p.Gly643=)
|
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
NM_000245.4(MET):c.1933G>C (p.Gly645Arg)
|
|
|
NM_000245.4(MET):c.1934G>A (p.Gly645Glu)
|
|
|
NM_000245.4(MET):c.1944A>C (p.Gln648His)
|
|
|
NM_000245.4(MET):c.1946A>G (p.Tyr649Cys)
|
|
|
NM_000245.4(MET):c.1952C>T (p.Thr651Ile)
|
rs2116921189
|
|
NM_000245.4(MET):c.1953A>G (p.Thr651=)
|
rs2116921218
|
|
NM_000245.4(MET):c.1956C>G (p.Phe652Leu)
|
|
|
NM_000245.4(MET):c.1958C>T (p.Ser653Phe)
|
rs1554395395
|
|
NM_000245.4(MET):c.1958_1960del (p.Ser653del)
|
rs1430652609
|
|
NM_000245.4(MET):c.1962T>C (p.Tyr654=)
|
|
|
NM_000245.4(MET):c.1965+1G>A
|
|
|
NM_000245.4(MET):c.1965+4A>C
|
rs1362532895
|
|
NM_000245.4(MET):c.1966-5T>C
|
|
|
NM_000245.4(MET):c.196G>A (p.Ala66Thr)
|
|
|
NM_000245.4(MET):c.1972G>C (p.Val658Leu)
|
rs587778446
|
|
NM_000245.4(MET):c.1974A>G (p.Val658=)
|
|
|
NM_000245.4(MET):c.1979C>T (p.Thr660Ile)
|
rs1584941563
|
|
NM_000245.4(MET):c.197C>T (p.Ala66Val)
|
|
|
NM_000245.4(MET):c.1982G>A (p.Ser661Asn)
|
rs755139610
|
|
NM_000245.4(MET):c.1989G>C (p.Ser663=)
|
|
|
NM_000245.4(MET):c.1991C>T (p.Pro664Leu)
|
rs1367341975
|
|
NM_000245.4(MET):c.1994A>T (p.Lys665Ile)
|
|
|
NM_000245.4(MET):c.1998C>G (p.Tyr666Ter)
|
|
|
NM_000245.4(MET):c.1999G>A (p.Gly667Ser)
|
|
|
NM_000245.4(MET):c.2003C>T (p.Pro668Leu)
|
|
|
NM_000245.4(MET):c.2005A>G (p.Met669Val)
|
rs1344902873
|
|
NM_000245.4(MET):c.2009C>T (p.Ala670Val)
|
|
|
NM_000245.4(MET):c.200C>A (p.Thr67Asn)
|
|
|
NM_000245.4(MET):c.200_201delinsAC (p.Thr67Asn)
|
|
|
NM_000245.4(MET):c.2013T>C (p.Gly671=)
|
|
|
NM_000245.4(MET):c.2015G>A (p.Gly672Asp)
|
rs2116923826
|
|
NM_000245.4(MET):c.2018C>G (p.Thr673Ser)
|
rs1401138460
|
|
NM_000245.4(MET):c.201T>C (p.Thr67=)
|
|
|
NM_000245.4(MET):c.2029T>G (p.Leu677Val)
|
|
|
NM_000245.4(MET):c.2037A>G (p.Gly679=)
|
|
|
NM_000245.4(MET):c.2038A>G (p.Asn680Asp)
|
|
|
NM_000245.4(MET):c.2046A>T (p.Leu682=)
|
|
|
NM_000245.4(MET):c.2050A>G (p.Ser684Gly)
|
rs1554395462
|
|
NM_000245.4(MET):c.2054G>A (p.Gly685Glu)
|
rs1584941747
|
|
NM_000245.4(MET):c.2058T>C (p.Asn686=)
|
|
|
NM_000245.4(MET):c.2061T>C (p.Ser687=)
|
rs776651937
|
|
NM_000245.4(MET):c.2067C>T (p.His689=)
|
|
|
NM_000245.4(MET):c.2070T>C (p.Ile690=)
|
rs759396158
|
|
NM_000245.4(MET):c.2071T>G (p.Ser691Ala)
|
|
|
NM_000245.4(MET):c.2076T>C (p.Ile692=)
|
|
|
NM_000245.4(MET):c.2079T>A (p.Gly693=)
|
rs1584941818
|
|
NM_000245.4(MET):c.207C>T (p.Tyr69=)
|
rs1454856933
|
|
NM_000245.4(MET):c.2088A>G (p.Thr696=)
|
rs201378674
|
|
NM_000245.4(MET):c.208A>G (p.Ile70Val)
|
rs2116582927
|
|
NM_000245.4(MET):c.2090G>A (p.Cys697Tyr)
|
|
|
NM_000245.4(MET):c.2102+5T>A
|
rs1794247110
|
|
NM_000245.4(MET):c.2102+5T>G
|
rs1794247110
|
|
NM_000245.4(MET):c.2103T>C (p.Ser701=)
|
rs1554395656
|
|
NM_000245.4(MET):c.2111A>G (p.Asn704Ser)
|
rs1794272939
|
|
NM_000245.4(MET):c.2114G>A (p.Ser705Asn)
|
rs1003586623
|
|
NM_000245.4(MET):c.2124_2135delinsCACTGTTTCA (p.Glu708fs)
|
|
|
NM_000245.4(MET):c.2126G>A (p.Cys709Tyr)
|
rs1554395668
|
|
NM_000245.4(MET):c.212A>G (p.Tyr71Cys)
|
rs1260635670
|
|
NM_000245.4(MET):c.2134C>G (p.Pro712Ala)
|
|
|
NM_000245.4(MET):c.214G>C (p.Val72Leu)
|
|
|
NM_000245.4(MET):c.2169A>G (p.Lys723=)
|
|
|
NM_000245.4(MET):c.2176A>G (p.Ile726Val)
|
rs1794275336
|
|
NM_000245.4(MET):c.2178T>C (p.Ile726=)
|
|
|
NM_000245.4(MET):c.2181C>T (p.Asp727=)
|
rs1487292146
|
|
NM_000245.4(MET):c.2185G>T (p.Ala729Ser)
|
|
|
NM_000245.4(MET):c.2189A>T (p.Asn730Ile)
|
|
|
NM_000245.4(MET):c.2190C>T (p.Asn730=)
|
|
|
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)
|
rs377336878
|
|
NM_000245.4(MET):c.2194G>A (p.Glu732Lys)
|
|
|
NM_000245.4(MET):c.2194G>C (p.Glu732Gln)
|
|
|
NM_000245.4(MET):c.2197A>G (p.Thr733Ala)
|
|
|
NM_000245.4(MET):c.2199A>C (p.Thr733=)
|
|
|
NM_000245.4(MET):c.21T>G (p.Leu7=)
|
rs2116578054
|
|
NM_000245.4(MET):c.2202C>T (p.Ser734=)
|
|
|
NM_000245.4(MET):c.2203A>G (p.Ile735Val)
|
rs1398648043
|
|
NM_000245.4(MET):c.2204T>C (p.Ile735Thr)
|
|
|
NM_000245.4(MET):c.2208C>T (p.Phe736=)
|
|
|
NM_000245.4(MET):c.2209A>G (p.Ser737Gly)
|
rs755571526
|
|
NM_000245.4(MET):c.2209A>T (p.Ser737Cys)
|
|
|
NM_000245.4(MET):c.2214C>T (p.Tyr738=)
|
|
|
NM_000245.4(MET):c.2215C>A (p.Arg739Ser)
|
|
|
NM_000245.4(MET):c.2215C>G (p.Arg739Gly)
|
rs45587940
|
|
NM_000245.4(MET):c.2217T>A (p.Arg739=)
|
|
|
NM_000245.4(MET):c.2221G>A (p.Asp741Asn)
|
rs1318406399
|
|
NM_000245.4(MET):c.2224C>A (p.Pro742Thr)
|
|
|
NM_000245.4(MET):c.2227A>C (p.Ile743Leu)
|
|
|
NM_000245.4(MET):c.2227A>G (p.Ile743Val)
|
|
|
NM_000245.4(MET):c.222T>A (p.Asn74Lys)
|
rs767934760
|
|
NM_000245.4(MET):c.222T>C (p.Asn74=)
|
rs767934760
|
|
NM_000245.4(MET):c.2232C>A (p.Val744=)
|
|
|
NM_000245.4(MET):c.2232C>G (p.Val744=)
|
rs1060504944
|
|
NM_000245.4(MET):c.2234A>G (p.Tyr745Cys)
|
|
|
NM_000245.4(MET):c.2236G>T (p.Glu746Ter)
|
|
|
NM_000245.4(MET):c.2248A>G (p.Thr750Ala)
|
rs1060503531
|
|
NM_000245.4(MET):c.2252A>G (p.Lys751Arg)
|
|
|
NM_000245.4(MET):c.2254T>A (p.Ser752Thr)
|
|
|
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
|
|
|
NM_000245.4(MET):c.2259T>C (p.Phe753=)
|
rs2116932790
|
|
NM_000245.4(MET):c.2263A>C (p.Ser755Arg)
|
rs981401332
|
|
NM_000245.4(MET):c.2264+1G>C
|
|
|
NM_000245.4(MET):c.2265-10G>T
|
rs1355716761
|
|
NM_000245.4(MET):c.2265-15A>G
|
rs201304108
|
|
NM_000245.4(MET):c.2265-18T>C
|
|
|
NM_000245.4(MET):c.2265-24C>G
|
|
|
NM_000245.4(MET):c.2265-24C>T
|
|
|
NM_000245.4(MET):c.2265-29A>T
|
rs2116937133
|
|
NM_000245.4(MET):c.2265-31A>G
|
rs370237186
|
|
NM_000245.4(MET):c.2265-37C>G
|
|
|
NM_000245.4(MET):c.2265-37C>T
|
|
|
NM_000245.4(MET):c.2265-38C>T
|
|
|
NM_000245.4(MET):c.2265-41G>A
|
rs1554395868
|
|
NM_000245.4(MET):c.2265-42del
|
rs1554395864
|
|
NM_000245.4(MET):c.2265-46G>T
|
rs1584943653
|
|
NM_000245.4(MET):c.2265-52C>G
|
|
|
NM_000245.4(MET):c.2265-56A>G
|
rs1554395861
|
|
NM_000245.4(MET):c.2271G>T (p.Gly757=)
|
|
|
NM_000245.4(MET):c.2276C>A (p.Thr759Lys)
|
rs1794309783
|
|
NM_000245.4(MET):c.2282C>T (p.Thr761Ile)
|
|
|
NM_000245.4(MET):c.2283A>C (p.Thr761=)
|
|
|
NM_000245.4(MET):c.2284G>A (p.Gly762Ser)
|
rs1794310272
|
|
NM_000245.4(MET):c.2285G>A (p.Gly762Asp)
|
rs1060503541
|
|
NM_000245.4(MET):c.2285G>T (p.Gly762Val)
|
|
|
NM_000245.4(MET):c.2298C>A (p.Asn766Lys)
|
|
|
NM_000245.4(MET):c.2304T>C (p.Asn768=)
|
rs2116938117
|
|
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
|
|
|
NM_000245.4(MET):c.2312G>A (p.Ser771Asn)
|
|
|
NM_000245.4(MET):c.2314G>A (p.Val772Ile)
|
|
|
NM_000245.4(MET):c.2317C>T (p.Pro773Ser)
|
rs2116938395
|
|
NM_000245.4(MET):c.2319G>C (p.Pro773=)
|
|
|
NM_000245.4(MET):c.231C>T (p.Asp77=)
|
|
|
NM_000245.4(MET):c.2320A>C (p.Arg774=)
|
rs2116938453
|
|
NM_000245.4(MET):c.2322A>G (p.Arg774=)
|
|
|
NM_000245.4(MET):c.2324T>A (p.Met775Lys)
|
|
|
NM_000245.4(MET):c.2327T>G (p.Val776Gly)
|
|
|
NM_000245.4(MET):c.2334T>G (p.Asn778Lys)
|
rs2116938738
|
|
NM_000245.4(MET):c.2335G>A (p.Val779Met)
|
rs1562923583
|
|
NM_000245.4(MET):c.2336T>C (p.Val779Ala)
|
|
|
NM_000245.4(MET):c.2337G>A (p.Val779=)
|
rs863224377
|
|
NM_000245.4(MET):c.2337G>T (p.Val779=)
|
|
|
NM_000245.4(MET):c.2347G>C (p.Gly783Arg)
|
rs879254334
|
|
NM_000245.4(MET):c.2351G>A (p.Arg784Lys)
|
rs1794313115
|
|
NM_000245.4(MET):c.2352G>A (p.Arg784=)
|
|
|
NM_000245.4(MET):c.2353A>G (p.Asn785Asp)
|
|
|
NM_000245.4(MET):c.2359A>G (p.Thr787Ala)
|
rs1180556775
|
|
NM_000245.4(MET):c.2360C>T (p.Thr787Ile)
|
rs2116939286
|
|
NM_000245.4(MET):c.2361A>G (p.Thr787=)
|
rs1027607387
|
|
NM_000245.4(MET):c.2363T>A (p.Val788Glu)
|
|
|
NM_000245.4(MET):c.2363T>C (p.Val788Ala)
|
rs786204142
|
|
NM_000245.4(MET):c.2363T>G (p.Val788Gly)
|
|
|
NM_000245.4(MET):c.2364+3A>G
|
|
|
NM_000245.4(MET):c.2365-4C>G
|
rs1060504943
|
|
NM_000245.4(MET):c.2367A>C (p.Ala789=)
|
|
|
NM_000245.4(MET):c.2367A>G (p.Ala789=)
|
rs910873191
|
|
NM_000245.4(MET):c.236A>C (p.Gln79Pro)
|
|
|
NM_000245.4(MET):c.2373A>T (p.Gln791His)
|
rs760294359
|
|
NM_000245.4(MET):c.2375A>C (p.His792Pro)
|
rs980467681
|
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
rs980467681
|
|
NM_000245.4(MET):c.2379C>T (p.Arg793=)
|
rs1794458829
|
|
NM_000245.4(MET):c.237G>A (p.Gln79=)
|
rs752226182
|
|
NM_000245.4(MET):c.2380T>C (p.Ser794Pro)
|
rs2116953849
|
|
NM_000245.4(MET):c.2383A>C (p.Asn795His)
|
|
|
NM_000245.4(MET):c.2383A>G (p.Asn795Asp)
|
rs200633053
|
|
NM_000245.4(MET):c.2389G>A (p.Glu797Lys)
|
rs1307693651
|
|
NM_000245.4(MET):c.2389G>C (p.Glu797Gln)
|
|
|
NM_000245.4(MET):c.2392A>C (p.Ile798Leu)
|
|
|
NM_000245.4(MET):c.2399G>A (p.Cys800Tyr)
|
|
|
NM_000245.4(MET):c.2402G>C (p.Cys801Ser)
|
|
|
NM_000245.4(MET):c.2406C>A (p.Thr802=)
|
|
|
NM_000245.4(MET):c.2409T>C (p.Thr803=)
|
rs1584946860
|
|
NM_000245.4(MET):c.2409T>G (p.Thr803=)
|
rs1584946860
|
|
NM_000245.4(MET):c.2414C>A (p.Ser805Tyr)
|
|
|
NM_000245.4(MET):c.2421A>G (p.Gln807=)
|
|
|
NM_000245.4(MET):c.2424G>A (p.Gln808=)
|
|
|
NM_000245.4(MET):c.2431C>T (p.Leu811=)
|
rs1584946893
|
|
NM_000245.4(MET):c.2432T>A (p.Leu811Gln)
|
rs1554396554
|
|
NM_000245.4(MET):c.2432T>C (p.Leu811Pro)
|
rs1554396554
|
|
NM_000245.4(MET):c.2434C>G (p.Gln812Glu)
|
rs398123568
|
|
NM_000245.4(MET):c.2437C>G (p.Leu813Val)
|
|
|
NM_000245.4(MET):c.2441C>G (p.Pro814Arg)
|
|
|
NM_000245.4(MET):c.2442C>T (p.Pro814=)
|
|
|
NM_000245.4(MET):c.2444T>C (p.Leu815Pro)
|
rs1554396571
|
|
NM_000245.4(MET):c.2446A>G (p.Lys816Glu)
|
|
|
NM_000245.4(MET):c.2450C>T (p.Thr817Ile)
|
|
|
NM_000245.4(MET):c.2451C>A (p.Thr817=)
|
rs2116955318
|
|
NM_000245.4(MET):c.2457C>A (p.Ala819=)
|
rs746040712
|
|
NM_000245.4(MET):c.2457C>T (p.Ala819=)
|
rs746040712
|
|
NM_000245.4(MET):c.2461T>C (p.Phe821Leu)
|
rs1794465668
|
|
NM_000245.4(MET):c.2464A>G (p.Met822Val)
|
rs368787826
|
|
NM_000245.4(MET):c.2465T>C (p.Met822Thr)
|
rs1562925631
|
|
NM_000245.4(MET):c.246T>C (p.Ala82=)
|
|
|
NM_000245.4(MET):c.2470G>A (p.Asp824Asn)
|
|
|
NM_000245.4(MET):c.2472T>G (p.Asp824Glu)
|
rs1463527073
|
|
NM_000245.4(MET):c.2475G>A (p.Gly825=)
|
rs891908277
|
|
NM_000245.4(MET):c.2475G>T (p.Gly825=)
|
rs891908277
|
|
NM_000245.4(MET):c.2477T>C (p.Ile826Thr)
|
|
|
NM_000245.4(MET):c.247G>A (p.Glu83Lys)
|
|
|
NM_000245.4(MET):c.2483C>A (p.Ser828Tyr)
|
|
|
NM_000245.4(MET):c.2488T>A (p.Tyr830Asn)
|
|
|
NM_000245.4(MET):c.2488T>C (p.Tyr830His)
|
rs1794468017
|
|
NM_000245.4(MET):c.248A>G (p.Glu83Gly)
|
|
|
NM_000245.4(MET):c.249G>A (p.Glu83=)
|
rs751158831
|
|
NM_000245.4(MET):c.24A>T (p.Ala8=)
|
|
|
NM_000245.4(MET):c.2500A>G (p.Ile834Val)
|
rs2116956205
|
|
NM_000245.4(MET):c.2501T>A (p.Ile834Asn)
|
rs1215872095
|
|
NM_000245.4(MET):c.2502T>G (p.Ile834Met)
|
|
|
NM_000245.4(MET):c.2503T>C (p.Tyr835His)
|
|
|
NM_000245.4(MET):c.2509C>T (p.His837Tyr)
|
rs1584947043
|
|
NM_000245.4(MET):c.250T>C (p.Tyr84His)
|
|
|
NM_000245.4(MET):c.2510A>C (p.His837Pro)
|
rs1041349799
|
|
NM_000245.4(MET):c.2514T>C (p.Asn838=)
|
|
|
NM_000245.4(MET):c.2515C>G (p.Pro839Ala)
|
|
|
NM_000245.4(MET):c.2517T>G (p.Pro839=)
|
rs1584947055
|
|
NM_000245.4(MET):c.2518G>T (p.Val840Leu)
|
|
|
NM_000245.4(MET):c.2520G>A (p.Val840=)
|
|
|
NM_000245.4(MET):c.2527C>A (p.Pro843Thr)
|
rs905891313
|
|
NM_000245.4(MET):c.2527C>T (p.Pro843Ser)
|
|
|
NM_000245.4(MET):c.2528C>T (p.Pro843Leu)
|
rs762228405
|
|
NM_000245.4(MET):c.2532T>C (p.Phe844=)
|
rs1295247757
|
|
NM_000245.4(MET):c.2533G>C (p.Glu845Gln)
|
rs1794470895
|
|
NM_000245.4(MET):c.2535A>G (p.Glu845=)
|
|
|
NM_000245.4(MET):c.2538G>C (p.Lys846Asn)
|
rs1562925732
|
|
NM_000245.4(MET):c.253A>G (p.Lys85Glu)
|
rs1791469321
|
|
NM_000245.4(MET):c.2540C>T (p.Pro847Leu)
|
|
|
NM_000245.4(MET):c.2541A>G (p.Pro847=)
|
rs2116956820
|
|
NM_000245.4(MET):c.2544G>A (p.Val848=)
|
|
|
NM_000245.4(MET):c.2550C>G (p.Ile850Met)
|
|
|
NM_000245.4(MET):c.2555T>C (p.Met852Thr)
|
rs369758288
|
|
NM_000245.4(MET):c.2557G>A (p.Gly853Ser)
|
rs45575240
|
|
NM_000245.4(MET):c.2559C>T (p.Gly853=)
|
|
|
NM_000245.4(MET):c.255G>T (p.Lys85Asn)
|
rs1327946446
|
|
NM_000245.4(MET):c.2568T>G (p.Asn856Lys)
|
rs118057172
|
|
NM_000245.4(MET):c.256A>G (p.Thr86Ala)
|
|
|
NM_000245.4(MET):c.2576A>T (p.Glu859Val)
|
|
|
NM_000245.4(MET):c.2581A>C (p.Lys861Gln)
|
|
|
NM_000245.4(MET):c.2582A>G (p.Lys861Arg)
|
rs895820328
|
|
NM_000245.4(MET):c.2583+1G>A
|
|
|
NM_000245.4(MET):c.2583+5G>A
|
rs1432247099
|
|
NM_000245.4(MET):c.2583G>A (p.Lys861=)
|
rs1584947168
|
|
NM_000245.4(MET):c.2584-4T>C
|
rs1554397896
|
|
NM_000245.4(MET):c.2589T>C (p.Asn863=)
|
|
|
NM_000245.4(MET):c.258T>C (p.Thr86=)
|
|
|
NM_000245.4(MET):c.2590G>T (p.Asp864Tyr)
|
rs1584953171
|
|
NM_000245.4(MET):c.2595T>C (p.Ile865=)
|
rs2116982595
|
|
NM_000245.4(MET):c.2607A>T (p.Ala869=)
|
|
|
NM_000245.4(MET):c.2608G>T (p.Val870Phe)
|
|
|
NM_000245.4(MET):c.2610T>C (p.Val870=)
|
|
|
NM_000245.4(MET):c.2616T>C (p.Gly872=)
|
rs863224378
|
|
NM_000245.4(MET):c.2616dup (p.Glu873Ter)
|
|
|
NM_000245.4(MET):c.2617G>A (p.Glu873Lys)
|
|
|
NM_000245.4(MET):c.261G>A (p.Gly87=)
|
|
|
NM_000245.4(MET):c.261G>T (p.Gly87=)
|
rs2116584241
|
|
NM_000245.4(MET):c.262C>G (p.Pro88Ala)
|
rs1169278904
|
|
NM_000245.4(MET):c.2630T>C (p.Val877Ala)
|
|
|
NM_000245.4(MET):c.2633G>T (p.Gly878Val)
|
|
|
NM_000245.4(MET):c.2638A>C (p.Lys880Gln)
|
|
|
NM_000245.4(MET):c.2640G>A (p.Lys880=)
|
|
|
NM_000245.4(MET):c.2640G>T (p.Lys880Asn)
|
|
|
NM_000245.4(MET):c.2657A>T (p.His886Leu)
|
|
|
NM_000245.4(MET):c.2658C>A (p.His886Gln)
|
rs748950533
|
|
NM_000245.4(MET):c.265G>A (p.Val89Met)
|
rs1060503544
|
|
NM_000245.4(MET):c.2660T>C (p.Leu887Ser)
|
|
|
NM_000245.4(MET):c.2662C>G (p.His888Asp)
|
rs115574135
|
|
NM_000245.4(MET):c.2663A>G (p.His888Arg)
|
rs1584953276
|
|
NM_000245.4(MET):c.2664T>C (p.His888=)
|
|
|
NM_000245.4(MET):c.2668G>C (p.Glu890Gln)
|
|
|
NM_000245.4(MET):c.2671G>T (p.Ala891Ser)
|
|
|
NM_000245.4(MET):c.2672C>G (p.Ala891Gly)
|
rs1562929174
|
|
NM_000245.4(MET):c.2672C>T (p.Ala891Val)
|
rs1562929174
|
|
NM_000245.4(MET):c.2679A>G (p.Leu893=)
|
|
|
NM_000245.4(MET):c.2681G>A (p.Cys894Tyr)
|
|
|
NM_000245.4(MET):c.2682C>T (p.Cys894=)
|
|
|
NM_000245.4(MET):c.2687T>C (p.Val896Ala)
|
|
|
NM_000245.4(MET):c.2689C>G (p.Pro897Ala)
|
|
|
NM_000245.4(MET):c.2691dup (p.Asn898fs)
|
|
|
NM_000245.4(MET):c.2696A>T (p.Asp899Val)
|
|
|
NM_000245.4(MET):c.2697C>G (p.Asp899Glu)
|
|
|
NM_000245.4(MET):c.2697C>T (p.Asp899=)
|
rs1584953336
|
|
NM_000245.4(MET):c.2700G>A (p.Leu900=)
|
|
|
NM_000245.4(MET):c.2700G>C (p.Leu900=)
|
|
|
NM_000245.4(MET):c.2700G>T (p.Leu900=)
|
rs921308683
|
|
NM_000245.4(MET):c.2701C>G (p.Leu901Val)
|
rs1384134548
|
|
NM_000245.4(MET):c.2703G>A (p.Leu901=)
|
rs1374413099
|
|
NM_000245.4(MET):c.270G>A (p.Leu90=)
|
|
|
NM_000245.4(MET):c.2711A>G (p.Asn904Ser)
|
rs765441927
|
|
NM_000245.4(MET):c.2712C>T (p.Asn904=)
|
|
|
NM_000245.4(MET):c.2718G>A (p.Glu906=)
|
rs752013993
|
|
NM_000245.4(MET):c.2719C>T (p.Leu907=)
|
rs1237905483
|
|
NM_000245.4(MET):c.2725A>G (p.Ile909Val)
|
|
|
NM_000245.4(MET):c.2727A>T (p.Ile909=)
|
|
|
NM_000245.4(MET):c.272A>G (p.Glu91Gly)
|
rs1791471735
|
|
NM_000245.4(MET):c.2730+2T>A
|
|
|
NM_000245.4(MET):c.2730+5G>T
|
|
|
NM_000245.4(MET):c.2736G>C (p.Lys912Asn)
|
rs1794830011
|
|
NM_000245.4(MET):c.2739A>C (p.Gln913His)
|
|
|
NM_000245.4(MET):c.2741C>A (p.Ala914Glu)
|
|
|
NM_000245.4(MET):c.2742A>G (p.Ala914=)
|
rs1208554913
|
|
NM_000245.4(MET):c.2747C>A (p.Ser916Tyr)
|
rs1288860579
|
|
NM_000245.4(MET):c.274C>A (p.His92Asn)
|
rs1375872823
|
|
NM_000245.4(MET):c.274C>G (p.His92Asp)
|
rs1375872823
|
|
NM_000245.4(MET):c.2752A>C (p.Thr918Pro)
|
|
|
NM_000245.4(MET):c.2754C>A (p.Thr918=)
|
rs770886012
|
|
NM_000245.4(MET):c.2762G>T (p.Gly921Val)
|
|
|
NM_000245.4(MET):c.2766A>G (p.Lys922=)
|
|
|
NM_000245.4(MET):c.2767G>A (p.Val923Ile)
|
rs1794832354
|
|
NM_000245.4(MET):c.2768T>A (p.Val923Glu)
|
|
|
NM_000245.4(MET):c.2770A>G (p.Ile924Val)
|
rs1247472138
|
|
NM_000245.4(MET):c.2779C>T (p.Pro927Ser)
|
|
|
NM_000245.4(MET):c.2785C>G (p.Gln929Glu)
|
|
|
NM_000245.4(MET):c.278C>G (p.Pro93Arg)
|
rs1306740707
|
|
NM_000245.4(MET):c.2790T>C (p.Asn930=)
|
rs933744184
|
|
NM_000245.4(MET):c.2791T>A (p.Phe931Ile)
|
rs1562930067
|
|
NM_000245.4(MET):c.279A>G (p.Pro93=)
|
|
|
NM_000245.4(MET):c.27T>C (p.Pro9=)
|
|
|
NM_000245.4(MET):c.27T>G (p.Pro9=)
|
rs2116578238
|
|
NM_000245.4(MET):c.2800T>C (p.Leu934=)
|
rs1554398274
|
|
NM_000245.4(MET):c.2806G>T (p.Ala936Ser)
|
rs1794834628
|
|
NM_000245.4(MET):c.2807C>T (p.Ala936Val)
|
|
|
NM_000245.4(MET):c.280G>A (p.Asp94Asn)
|
rs899151863
|
|
NM_000245.4(MET):c.2812G>A (p.Val938Ile)
|
|
|
NM_000245.4(MET):c.2813T>C (p.Val938Ala)
|
rs1554398288
|
|
NM_000245.4(MET):c.2822T>C (p.Ile941Thr)
|
|
|
NM_000245.4(MET):c.2827A>G (p.Thr943Ala)
|
|
|
NM_000245.4(MET):c.2828C>T (p.Thr943Ile)
|
rs2116992551
|
|
NM_000245.4(MET):c.282T>C (p.Asp94=)
|
|
|
NM_000245.4(MET):c.2830G>A (p.Ala944Thr)
|
rs2116992583
|
|
NM_000245.4(MET):c.2832A>C (p.Ala944=)
|
rs1584955001
|
|
NM_000245.4(MET):c.2834T>A (p.Leu945Gln)
|
|
|
NM_000245.4(MET):c.2846T>A (p.Leu949His)
|
|
|
NM_000245.4(MET):c.284G>A (p.Cys95Tyr)
|
|
|
NM_000245.4(MET):c.2851T>G (p.Phe951Val)
|
|
|
NM_000245.4(MET):c.2860T>C (p.Trp954Arg)
|
|
|
NM_000245.4(MET):c.2863C>T (p.Leu955=)
|
|
|
NM_000245.4(MET):c.2865G>A (p.Leu955=)
|
|
|
NM_000245.4(MET):c.2871G>C (p.Lys957Asn)
|
|
|
NM_000245.4(MET):c.2874A>G (p.Arg958=)
|
rs1452848504
|
|
NM_000245.4(MET):c.2877G>A (p.Lys959=)
|
|
|
NM_000245.4(MET):c.287T>G (p.Phe96Cys)
|
rs371941340
|
|
NM_000245.4(MET):c.2887+3G>T
|
|
|
NM_000245.4(MET):c.2887+5A>T
|
rs752292538
|
|
NM_000245.4(MET):c.2888-28_2888-2del
|
|
|
NM_000245.4(MET):c.2888A>G (p.Asp963Gly)
|
rs1554398360
|
|
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)
|
rs1413209214
|
|
NM_000245.4(MET):c.2896A>C (p.Ser966Arg)
|
|
|
NM_000245.4(MET):c.2896A>G (p.Ser966Gly)
|
|
|
NM_000245.4(MET):c.2901A>G (p.Glu967=)
|
|
|
NM_000245.4(MET):c.2905G>T (p.Val969Phe)
|
rs757925979
|
|
NM_000245.4(MET):c.290C>T (p.Pro97Leu)
|
|
|
NM_000245.4(MET):c.2920A>G (p.Arg974Gly)
|
|
|
NM_000245.4(MET):c.2923G>A (p.Val975Ile)
|
|
|
NM_000245.4(MET):c.2925A>C (p.Val975=)
|
|
|
NM_000245.4(MET):c.2925A>G (p.Val975=)
|
|
|
NM_000245.4(MET):c.2926C>T (p.His976Tyr)
|
|
|
NM_000245.4(MET):c.2927A>G (p.His976Arg)
|
|
|
NM_000245.4(MET):c.2928C>T (p.His976=)
|
rs2116996392
|
|
NM_000245.4(MET):c.2929A>G (p.Thr977Ala)
|
rs1554398378
|
|
NM_000245.4(MET):c.292T>G (p.Cys98Gly)
|
|
|
NM_000245.4(MET):c.2935C>T (p.His979Tyr)
|
rs1584955347
|
|
NM_000245.4(MET):c.2941G>A (p.Asp981Asn)
|
rs1794847447
|
|
NM_000245.4(MET):c.2943T>C (p.Asp981=)
|
rs45561544
|
|
NM_000245.4(MET):c.2946G>C (p.Arg982Ser)
|
rs1554398390
|
|
NM_000245.4(MET):c.294T>C (p.Cys98=)
|
rs2116585117
|
|
NM_000245.4(MET):c.2950G>C (p.Val984Leu)
|
|
|
NM_000245.4(MET):c.2956G>T (p.Ala986Ser)
|
rs1794848174
|
|
NM_000245.4(MET):c.2959C>T (p.Arg987Ter)
|
rs1554398397
|
|
NM_000245.4(MET):c.2960G>A (p.Arg987Gln)
|
rs910937816
|
|
NM_000245.4(MET):c.2960G>C (p.Arg987Pro)
|
rs910937816
|
|
NM_000245.4(MET):c.2963G>A (p.Ser988Asn)
|
|
|
NM_000245.4(MET):c.2964T>C (p.Ser988=)
|
rs1554398401
|
|
NM_000245.4(MET):c.2965G>A (p.Val989Ile)
|
rs1442896663
|
|
NM_000245.4(MET):c.2970C>A (p.Ser990Arg)
|
|
|
NM_000245.4(MET):c.2970C>T (p.Ser990=)
|
rs544081614
|
|
NM_000245.4(MET):c.2979A>G (p.Thr993=)
|
|
|
NM_000245.4(MET):c.2981A>G (p.Glu994Gly)
|
|
|
NM_000245.4(MET):c.2983A>G (p.Met995Val)
|
rs1794849768
|
|
NM_000245.4(MET):c.2985G>A (p.Met995Ile)
|
|
|
NM_000245.4(MET):c.298G>C (p.Asp100His)
|
rs1554378400
|
|
NM_000245.4(MET):c.29G>A (p.Gly10Asp)
|
rs919828654
|
|
NM_000245.4(MET):c.300C>T (p.Asp100=)
|
rs2116585270
|
|
NM_000245.4(MET):c.3015T>C (p.Ala1005=)
|
rs2116997626
|
|
NM_000245.4(MET):c.3017C>G (p.Thr1006Ser)
|
rs1794851181
|
|
NM_000245.4(MET):c.3019T>A (p.Phe1007Ile)
|
|
|
NM_000245.4(MET):c.3023C>T (p.Pro1008Leu)
|
|
|
NM_000245.4(MET):c.3028G>A (p.Asp1010Asn)
|
rs1794851612
|
|
NM_000245.4(MET):c.3029-2A>G
|
rs2117029370
|
|
NM_000245.4(MET):c.3031C>G (p.Gln1011Glu)
|
rs1584957663
|
|
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser)
|
rs1794945602
|
|
NM_000245.4(MET):c.3037C>A (p.Pro1013Thr)
|
|
|
NM_000245.4(MET):c.3042T>C (p.Asn1014=)
|
|
|
NM_000245.4(MET):c.3043T>G (p.Ser1015Ala)
|
rs539345989
|
|
NM_000245.4(MET):c.3051G>C (p.Gln1017His)
|
rs2117029691
|
|
NM_000245.4(MET):c.3055G>A (p.Gly1019Ser)
|
rs950642030
|
|
NM_000245.4(MET):c.3055G>C (p.Gly1019Arg)
|
rs950642030
|
|
NM_000245.4(MET):c.3056G>C (p.Gly1019Ala)
|
rs1584957697
|
|
NM_000245.4(MET):c.3059C>T (p.Ser1020Leu)
|
|
|
NM_000245.4(MET):c.3060A>C (p.Ser1020=)
|
rs2117029833
|
|
NM_000245.4(MET):c.3062G>A (p.Cys1021Tyr)
|
|
|
NM_000245.4(MET):c.3063C>T (p.Cys1021=)
|
|
|
NM_000245.4(MET):c.3064C>G (p.Arg1022Gly)
|
rs1193441628
|
|
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu)
|
rs45612435
|
|
NM_000245.4(MET):c.3070G>A (p.Val1024Met)
|
rs1584957724
|
|
NM_000245.4(MET):c.3071T>C (p.Val1024Ala)
|
rs2117030004
|
|
NM_000245.4(MET):c.3079C>G (p.Pro1027Ala)
|
rs373419003
|
|
NM_000245.4(MET):c.3084G>A (p.Leu1028=)
|
|
|
NM_000245.4(MET):c.3086C>T (p.Thr1029Ile)
|
|
|
NM_000245.4(MET):c.3087A>G (p.Thr1029=)
|
|
|
NM_000245.4(MET):c.3092T>C (p.Met1031Thr)
|
rs1255185058
|
|
NM_000245.4(MET):c.3095C>G (p.Ser1032Cys)
|
|
|
NM_000245.4(MET):c.3097C>T (p.Pro1033Ser)
|
|
|
NM_000245.4(MET):c.3099C>T (p.Pro1033=)
|
rs754909964
|
|
NM_000245.4(MET):c.3100A>G (p.Ile1034Val)
|
rs993773653
|
|
NM_000245.4(MET):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly)
|
rs1794948966
|
|
NM_000245.4(MET):c.3115G>A (p.Asp1039Asn)
|
rs777748634
|
|
NM_000245.4(MET):c.3117C>A (p.Asp1039Glu)
|
rs575907920
|
|
NM_000245.4(MET):c.3117C>G (p.Asp1039Glu)
|
rs575907920
|
|
NM_000245.4(MET):c.3119C>G (p.Ser1040Cys)
|
|
|
NM_000245.4(MET):c.3128C>A (p.Ser1043Tyr)
|
rs1267419620
|
|
NM_000245.4(MET):c.312A>C (p.Lys104Asn)
|
rs1554378412
|
|
NM_000245.4(MET):c.3130A>T (p.Ser1044Cys)
|
rs1357266763
|
|
NM_000245.4(MET):c.3131G>A (p.Ser1044Asn)
|
|
|
NM_000245.4(MET):c.3135A>G (p.Pro1045=)
|
rs1584957836
|
|
NM_000245.4(MET):c.313G>A (p.Ala105Thr)
|
|
|
NM_000245.4(MET):c.3140T>C (p.Leu1047Pro)
|
rs1794950215
|
|
NM_000245.4(MET):c.3146A>G (p.Asn1049Ser)
|
|
|
NM_000245.4(MET):c.3148A>G (p.Thr1050Ala)
|
rs1794950502
|
|
NM_000245.4(MET):c.3149C>A (p.Thr1050Asn)
|
rs1179812872
|
|
NM_000245.4(MET):c.3151G>A (p.Val1051Ile)
|
rs775997318
|
|
NM_000245.4(MET):c.3155A>C (p.His1052Pro)
|
|
|
NM_000245.4(MET):c.3157A>G (p.Ile1053Val)
|
rs1278254320
|
|
NM_000245.4(MET):c.3158T>C (p.Ile1053Thr)
|
|
|
NM_000245.4(MET):c.3160G>T (p.Asp1054Tyr)
|
|
|
NM_000245.4(MET):c.3163C>A (p.Leu1055Ile)
|
rs1060503534
|
|
NM_000245.4(MET):c.3163C>G (p.Leu1055Val)
|
rs1060503534
|
|
NM_000245.4(MET):c.3165C>T (p.Leu1055=)
|
|
|
NM_000245.4(MET):c.3167G>A (p.Ser1056Asn)
|
|
|
NM_000245.4(MET):c.3172C>T (p.Leu1058=)
|
|
|
NM_000245.4(MET):c.3175A>C (p.Asn1059His)
|
rs1794951633
|
|
NM_000245.4(MET):c.3176A>T (p.Asn1059Ile)
|
|
|
NM_000245.4(MET):c.317A>G (p.Asn106Ser)
|
|
|
NM_000245.4(MET):c.3183G>A (p.Glu1061=)
|
rs1554398889
|
|
NM_000245.4(MET):c.3186G>A (p.Leu1062=)
|
rs1584957891
|
|
NM_000245.4(MET):c.318T>C (p.Asn106=)
|
|
|
NM_000245.4(MET):c.318T>G (p.Asn106Lys)
|
|
|
NM_000245.4(MET):c.3191A>G (p.Gln1064Arg)
|
|
|
NM_000245.4(MET):c.3193G>T (p.Ala1065Ser)
|
|
|
NM_000245.4(MET):c.3198G>A (p.Val1066=)
|
rs1162352573
|
|
NM_000245.4(MET):c.3198G>T (p.Val1066=)
|
|
|
NM_000245.4(MET):c.3201G>A (p.Gln1067=)
|
rs1447318689
|
|
NM_000245.4(MET):c.3203A>G (p.His1068Arg)
|
|
|
NM_000245.4(MET):c.3204T>G (p.His1068Gln)
|
rs1397743069
|
|
NM_000245.4(MET):c.3208G>T (p.Val1070Leu)
|
rs760285693
|
|
NM_000245.4(MET):c.3215G>T (p.Gly1072Val)
|
rs1584957937
|
|
NM_000245.4(MET):c.3216G>A (p.Gly1072=)
|
|
|
NM_000245.4(MET):c.3216G>T (p.Gly1072=)
|
rs2117031874
|
|
NM_000245.4(MET):c.3219C>A (p.Pro1073=)
|
|
|
NM_000245.4(MET):c.3219C>T (p.Pro1073=)
|
rs1794954190
|
|
NM_000245.4(MET):c.321A>G (p.Leu107=)
|
rs1040920548
|
|
NM_000245.4(MET):c.321A>T (p.Leu107Phe)
|
rs1040920548
|
|
NM_000245.4(MET):c.3222T>C (p.Ser1074=)
|
rs2117031958
|
|
NM_000245.4(MET):c.322T>A (p.Ser108Thr)
|
|
|
NM_000245.4(MET):c.3232G>C (p.Val1078Leu)
|
|
|
NM_000245.4(MET):c.3244G>A (p.Glu1082Lys)
|
|
|
NM_000245.4(MET):c.3244G>C (p.Glu1082Gln)
|
rs1584957997
|
|
NM_000245.4(MET):c.3245A>T (p.Glu1082Val)
|
|
|
NM_000245.4(MET):c.3246A>G (p.Glu1082=)
|
|
|
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp)
|
rs1794955289
|
|
NM_000245.4(MET):c.324A>G (p.Ser108=)
|
|
|
NM_000245.4(MET):c.3251T>A (p.Ile1084Lys)
|
|
|
NM_000245.4(MET):c.3251T>C (p.Ile1084Thr)
|
|
|
NM_000245.4(MET):c.3254G>A (p.Gly1085Glu)
|
rs1562931818
|
|
NM_000245.4(MET):c.3260-2A>G
|
|
|
NM_000245.4(MET):c.3271T>C (p.Cys1091Arg)
|
rs751556706
|
|
NM_000245.4(MET):c.3279T>C (p.Tyr1093=)
|
|
|
NM_000245.4(MET):c.327A>T (p.Gly109=)
|
|
|
NM_000245.4(MET):c.3284G>A (p.Gly1095Glu)
|
rs1795029105
|
|
NM_000245.4(MET):c.3287C>G (p.Thr1096Ser)
|
rs45592846
|
|
NM_000245.4(MET):c.3297C>T (p.Asp1099=)
|
|
|
NM_000245.4(MET):c.3299A>G (p.Asn1100Ser)
|
rs1795029901
|
|
NM_000245.4(MET):c.3301G>A (p.Asp1101Asn)
|
rs749678495
|
|
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
|
|
|
NM_000245.4(MET):c.3305G>A (p.Gly1102Asp)
|
rs1060503533
|
|
NM_000245.4(MET):c.330T>C (p.Gly110=)
|
|
|
NM_000245.4(MET):c.3312A>G (p.Lys1104=)
|
rs1584959967
|
|
NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)
|
|
|
NM_000245.4(MET):c.3315T>C (p.Ile1105=)
|
|
|
NM_000245.4(MET):c.3319T>A (p.Cys1107Ser)
|
|
|
NM_000245.4(MET):c.3321T>C (p.Cys1107=)
|
rs1584959989
|
|
NM_000245.4(MET):c.3325G>A (p.Val1109Met)
|
|
|
NM_000245.4(MET):c.3330A>G (p.Lys1110=)
|
|
|
NM_000245.4(MET):c.3332C>G (p.Ser1111Cys)
|
rs1584960002
|
|
NM_000245.4(MET):c.3333C>T (p.Ser1111=)
|
|
|
NM_000245.4(MET):c.3339C>T (p.Asn1113=)
|
rs1214629015
|
|
NM_000245.4(MET):c.3341-4T>C
|
|
|
NM_000245.4(MET):c.3343A>C (p.Ile1115Leu)
|
rs2117044727
|
|
NM_000245.4(MET):c.3345C>T (p.Ile1115=)
|
rs1554399534
|
|
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)
|
rs755234697
|
|
NM_000245.4(MET):c.3354A>G (p.Ile1118Met)
|
|
|
NM_000245.4(MET):c.3356_3358del (p.Gly1119del)
|
rs1584961122
|
|
NM_000245.4(MET):c.3360A>G (p.Glu1120=)
|
|
|
NM_000245.4(MET):c.3363T>C (p.Val1121=)
|
|
|
NM_000245.4(MET):c.3363T>G (p.Val1121=)
|
|
|
NM_000245.4(MET):c.3368A>G (p.Gln1123Arg)
|
rs2117045243
|
|
NM_000245.4(MET):c.3372T>C (p.Phe1124=)
|
rs2117045349
|
|
NM_000245.4(MET):c.3376A>G (p.Thr1126Ala)
|
|
|
NM_000245.4(MET):c.3377C>G (p.Thr1126Ser)
|
|
|
NM_000245.4(MET):c.3378C>G (p.Thr1126=)
|
|
|
NM_000245.4(MET):c.3381G>A (p.Glu1127=)
|
|
|
NM_000245.4(MET):c.3385A>G (p.Ile1129Val)
|
|
|
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)
|
rs121913668
|
|
NM_000245.4(MET):c.3397G>A (p.Asp1133Asn)
|
rs745437003
|
|
NM_000245.4(MET):c.3397G>T (p.Asp1133Tyr)
|
rs745437003
|
|
NM_000245.4(MET):c.3399T>A (p.Asp1133Glu)
|
|
|
NM_000245.4(MET):c.3399T>C (p.Asp1133=)
|
rs2117046045
|
|
NM_000245.4(MET):c.339A>G (p.Lys113=)
|
rs2116586309
|
|
NM_000245.4(MET):c.3403A>G (p.Ser1135Gly)
|
|
|
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn)
|
rs1795069423
|
|
NM_000245.4(MET):c.3408T>A (p.His1136Gln)
|
|
|
NM_000245.4(MET):c.3408T>C (p.His1136=)
|
rs202110450
|
|
NM_000245.4(MET):c.3417C>G (p.Val1139=)
|
rs2117046480
|
|
NM_000245.4(MET):c.341A>G (p.Asp114Gly)
|
|
|
NM_000245.4(MET):c.3420C>A (p.Leu1140=)
|
|
|
NM_000245.4(MET):c.3426C>T (p.Leu1142=)
|
|
|
NM_000245.4(MET):c.3428T>A (p.Leu1143Gln)
|
rs1795070394
|
|
NM_000245.4(MET):c.3439C>G (p.Leu1147Val)
|
|
|
NM_000245.4(MET):c.3442C>T (p.Arg1148Ter)
|
rs879254336
|
|
NM_000245.4(MET):c.3443G>T (p.Arg1148Leu)
|
|
|
NM_000245.4(MET):c.3453del (p.Ser1152fs)
|
|
|
NM_000245.4(MET):c.3458C>T (p.Pro1153Leu)
|
rs1795071897
|
|
NM_000245.4(MET):c.3466G>A (p.Val1156Ile)
|
rs1584961300
|
|
NM_000245.4(MET):c.3467T>C (p.Val1156Ala)
|
rs2117047452
|
|
NM_000245.4(MET):c.346A>G (p.Ile116Val)
|
rs1554378434
|
|
NM_000245.4(MET):c.3471A>C (p.Leu1157=)
|
|
|
NM_000245.4(MET):c.3471A>G (p.Leu1157=)
|
|
|
NM_000245.4(MET):c.3472C>T (p.Pro1158Ser)
|
rs766489685
|
|
NM_000245.4(MET):c.3475T>C (p.Tyr1159His)
|
rs2117047603
|
|
NM_000245.4(MET):c.3477C>G (p.Tyr1159Ter)
|
|
|
NM_000245.4(MET):c.347T>C (p.Ile116Thr)
|
|
|
NM_000245.4(MET):c.3489A>C (p.Gly1163=)
|
|
|
NM_000245.4(MET):c.348C>G (p.Ile116Met)
|
rs2116586543
|
|
NM_000245.4(MET):c.3493C>G (p.Leu1165Val)
|
|
|
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter)
|
rs1795073205
|
|
NM_000245.4(MET):c.3504C>T (p.Phe1168=)
|
rs2117048132
|
|
NM_000245.4(MET):c.3505A>G (p.Ile1169Val)
|
rs752109953
|
|
NM_000245.4(MET):c.3507T>A (p.Ile1169=)
|
|
|
NM_000245.4(MET):c.3508C>A (p.Arg1170=)
|
rs200754673
|
|
NM_000245.4(MET):c.3509G>T (p.Arg1170Leu)
|
rs369838973
|
|
NM_000245.4(MET):c.3513T>C (p.Asn1171=)
|
|
|
NM_000245.4(MET):c.3515A>T (p.Glu1172Val)
|
|
|
NM_000245.4(MET):c.3519T>C (p.Thr1173=)
|
|
|
NM_000245.4(MET):c.3523-3C>T
|
rs763246917
|
|
NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)
|
|
|
NM_000245.4(MET):c.352A>G (p.Met118Val)
|
rs1060503538
|
|
NM_000245.4(MET):c.3531T>G (p.Thr1177=)
|
rs1584964218
|
|
NM_000245.4(MET):c.3532G>A (p.Val1178Ile)
|
rs1584964221
|
|
NM_000245.4(MET):c.3534A>G (p.Val1178=)
|
|
|
NM_000245.4(MET):c.3534A>T (p.Val1178=)
|
rs544545520
|
|
NM_000245.4(MET):c.3540T>G (p.Asp1180Glu)
|
|
|
NM_000245.4(MET):c.3544A>G (p.Ile1182Val)
|
rs1795171767
|
|
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr)
|
rs1795171887
|
|
NM_000245.4(MET):c.354G>A (p.Met118Ile)
|
rs1562883374
|
|
NM_000245.4(MET):c.3554G>A (p.Gly1185Asp)
|
|
|
NM_000245.4(MET):c.3560A>G (p.Gln1187Arg)
|
|
|
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr)
|
rs1348453406
|
|
NM_000245.4(MET):c.3567C>A (p.Ala1189=)
|
|
|
NM_000245.4(MET):c.3582T>C (p.Tyr1194=)
|
rs1584964312
|
|
NM_000245.4(MET):c.358C>G (p.Leu120Val)
|
|
|
NM_000245.4(MET):c.3598T>C (p.Phe1200Leu)
|
rs1554400099
|
|
NM_000245.4(MET):c.3601G>A (p.Val1201Ile)
|
rs778646229
|
|
NM_000245.4(MET):c.3604C>G (p.His1202Asp)
|
|
|
NM_000245.4(MET):c.360A>G (p.Leu120=)
|
|
|
NM_000245.4(MET):c.3613T>A (p.Leu1205Met)
|
|
|
NM_000245.4(MET):c.3615G>T (p.Leu1205Phe)
|
|
|
NM_000245.4(MET):c.3616G>T (p.Ala1206Ser)
|
|
|
NM_000245.4(MET):c.3630T>C (p.Cys1210=)
|
|
|
NM_000245.4(MET):c.3632T>C (p.Met1211Thr)
|
|
|
NM_000245.4(MET):c.3633-4G>A
|
rs1477354447
|
|
NM_000245.4(MET):c.3636G>T (p.Leu1212=)
|
|
|
NM_000245.4(MET):c.3640G>A (p.Glu1214Lys)
|
rs1261418076
|
|
NM_000245.4(MET):c.364G>A (p.Val122Ile)
|
rs2116586974
|
|
NM_000245.4(MET):c.3651A>C (p.Thr1217=)
|
|
|
NM_000245.4(MET):c.3654C>A (p.Val1218=)
|
|
|
NM_000245.4(MET):c.3654C>T (p.Val1218=)
|
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000245.4(MET):c.3658G>T (p.Val1220Phe)
|
|
|
NM_000245.4(MET):c.3659T>C (p.Val1220Ala)
|
rs1554400274
|
|
NM_000245.4(MET):c.367G>A (p.Asp123Asn)
|
rs760106468
|
|
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
|
|
|
NM_000245.4(MET):c.3684C>G (p.Asp1228Glu)
|
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.3692A>G (p.Asp1231Gly)
|
|
|
NM_000245.4(MET):c.3692A>T (p.Asp1231Val)
|
rs1584965536
|
|
NM_000245.4(MET):c.36C>A (p.Leu12=)
|
rs188625702
|
|
NM_000245.4(MET):c.3706A>C (p.Ser1236Arg)
|
|
|
NM_000245.4(MET):c.3708T>C (p.Ser1236=)
|
|
|
NM_000245.4(MET):c.3709G>A (p.Val1237Ile)
|
rs1031263507
|
|
NM_000245.4(MET):c.3711A>G (p.Val1237=)
|
|
|
NM_000245.4(MET):c.3725G>A (p.Gly1242Asp)
|
|
|
NM_000245.4(MET):c.3725G>T (p.Gly1242Val)
|
rs776086430
|
|
NM_000245.4(MET):c.3726T>A (p.Gly1242=)
|
rs2117066669
|
|
NM_000245.4(MET):c.3726T>C (p.Gly1242=)
|
rs2117066669
|
|
NM_000245.4(MET):c.3728C>A (p.Ala1243Glu)
|
|
|
NM_000245.4(MET):c.372C>G (p.Thr124=)
|
rs574911056
|
|
NM_000245.4(MET):c.3735G>T (p.Leu1245=)
|
|
|
NM_000245.4(MET):c.3738A>G (p.Pro1246=)
|
|
|
NM_000245.4(MET):c.3741G>C (p.Val1247=)
|
rs1584965646
|
|
NM_000245.4(MET):c.3749T>C (p.Met1250Thr)
|
rs121913245
|
|
NM_000245.4(MET):c.375C>T (p.Tyr125=)
|
|
|
NM_000245.4(MET):c.3765G>A (p.Leu1255=)
|
rs1584965685
|
|
NM_000245.4(MET):c.3765G>C (p.Leu1255=)
|
rs1584965685
|
|
NM_000245.4(MET):c.3766C>G (p.Gln1256Glu)
|
|
|
NM_000245.4(MET):c.3776A>G (p.Lys1259Arg)
|
|
|
NM_000245.4(MET):c.3784A>C (p.Thr1262Pro)
|
|
|
NM_000245.4(MET):c.3799-3T>C
|
rs1584977801
|
|
NM_000245.4(MET):c.379G>A (p.Asp127Asn)
|
|
|
NM_000245.4(MET):c.379G>C (p.Asp127His)
|
rs1584876615
|
|
NM_000245.4(MET):c.37G>T (p.Val13Leu)
|
|
|
NM_000245.4(MET):c.3807T>C (p.Phe1269=)
|
rs1554402156
|
|
NM_000245.4(MET):c.3808G>A (p.Gly1270Ser)
|
rs727504014
|
|
NM_000245.4(MET):c.3810C>G (p.Gly1270=)
|
rs200865810
|
|
NM_000245.4(MET):c.3811G>C (p.Val1271Leu)
|
|
|
NM_000245.4(MET):c.3816C>T (p.Leu1272=)
|
|
|
NM_000245.4(MET):c.3819C>G (p.Leu1273=)
|
|
|
NM_000245.4(MET):c.381T>A (p.Asp127Glu)
|
rs2116587402
|
|
NM_000245.4(MET):c.3821G>A (p.Trp1274Ter)
|
|
|
NM_000245.4(MET):c.3834A>C (p.Thr1278=)
|
rs1584977880
|
|
NM_000245.4(MET):c.3834A>G (p.Thr1278=)
|
|
|
NM_000245.4(MET):c.3834A>T (p.Thr1278=)
|
|
|
NM_000245.4(MET):c.3835A>C (p.Arg1279=)
|
|
|
NM_000245.4(MET):c.3836G>A (p.Arg1279Lys)
|
|
|
NM_000245.4(MET):c.3843C>T (p.Ala1281=)
|
|
|
NM_000245.4(MET):c.3846A>G (p.Pro1282=)
|
|
|
NM_000245.4(MET):c.3847C>T (p.Pro1283Ser)
|
|
|
NM_000245.4(MET):c.3853C>G (p.Pro1285Ala)
|
|
|
NM_000245.4(MET):c.3861A>G (p.Val1287=)
|
rs749438942
|
|
NM_000245.4(MET):c.3865A>T (p.Thr1289Ser)
|
rs1584977945
|
|
NM_000245.4(MET):c.3866C>T (p.Thr1289Ile)
|
rs1584977952
|
|
NM_000245.4(MET):c.386A>C (p.Gln129Pro)
|
rs1791478036
|
|
NM_000245.4(MET):c.3870T>C (p.Phe1290=)
|
rs926365001
|
|
NM_000245.4(MET):c.3871G>T (p.Asp1291Tyr)
|
|
|
NM_000245.4(MET):c.3876A>G (p.Ile1292Met)
|
rs786204044
|
|
NM_000245.4(MET):c.3878C>T (p.Thr1293Ile)
|
|
|
NM_000245.4(MET):c.3879T>A (p.Thr1293=)
|
rs1554402170
|
|
NM_000245.4(MET):c.3885C>T (p.Tyr1295=)
|
rs1795648934
|
|
NM_000245.4(MET):c.3889T>C (p.Leu1297=)
|
rs1584977995
|
|
NM_000245.4(MET):c.388C>T (p.Leu130Phe)
|
rs1584876640
|
|
NM_000245.4(MET):c.3891G>A (p.Leu1297=)
|
rs1584977997
|
|
NM_000245.4(MET):c.3896G>A (p.Gly1299Glu)
|
|
|
NM_000245.4(MET):c.3897G>A (p.Gly1299=)
|
|
|
NM_000245.4(MET):c.38T>C (p.Val13Ala)
|
|
|
NM_000245.4(MET):c.3903A>G (p.Arg1301=)
|
|
|
NM_000245.4(MET):c.3906C>T (p.Leu1302=)
|
rs1584978021
|
|
NM_000245.4(MET):c.3907C>A (p.Leu1303Ile)
|
rs1584978029
|
|
NM_000245.4(MET):c.3915C>A (p.Pro1305=)
|
|
|
NM_000245.4(MET):c.3915C>T (p.Pro1305=)
|
rs555099334
|
|
NM_000245.4(MET):c.3918A>G (p.Glu1306=)
|
|
|
NM_000245.4(MET):c.3924C>T (p.Cys1308=)
|
|
|
NM_000245.4(MET):c.3930C>T (p.Asp1310=)
|
rs773763852
|
|
NM_000245.4(MET):c.3933C>A (p.Pro1311=)
|
|
|
NM_000245.4(MET):c.3936-3C>T
|
|
|
NM_000245.4(MET):c.3936-4A>G
|
|
|
NM_000245.4(MET):c.3936A>T (p.Leu1312Phe)
|
|
|
NM_000245.4(MET):c.393T>A (p.Ile131=)
|
rs1584876662
|
|
NM_000245.4(MET):c.3945A>T (p.Val1315=)
|
rs879254340
|
|
NM_000245.4(MET):c.3946A>G (p.Met1316Val)
|
|
|
NM_000245.4(MET):c.3948G>A (p.Met1316Ile)
|
|
|
NM_000245.4(MET):c.3955T>C (p.Cys1319Arg)
|
|
|
NM_000245.4(MET):c.3961C>T (p.His1321Tyr)
|
rs1795655626
|
|
NM_000245.4(MET):c.3962A>G (p.His1321Arg)
|
|
|
NM_000245.4(MET):c.3964C>G (p.Pro1322Ala)
|
rs368312290
|
|
NM_000245.4(MET):c.3964C>T (p.Pro1322Ser)
|
rs368312290
|
|
NM_000245.4(MET):c.3967A>G (p.Lys1323Glu)
|
rs1584978266
|
|
NM_000245.4(MET):c.3969A>G (p.Lys1323=)
|
|
|
NM_000245.4(MET):c.3971C>T (p.Ala1324Val)
|
|
|
NM_000245.4(MET):c.3972C>A (p.Ala1324=)
|
|
|
NM_000245.4(MET):c.3977T>C (p.Met1326Thr)
|
|
|
NM_000245.4(MET):c.3978G>A (p.Met1326Ile)
|
rs1795656686
|
|
NM_000245.4(MET):c.3978G>C (p.Met1326Ile)
|
rs1795656686
|
|
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu)
|
rs755043272
|
|
NM_000245.4(MET):c.3989T>G (p.Phe1330Cys)
|
|
|
NM_000245.4(MET):c.3999G>T (p.Leu1333=)
|
|
|
NM_000245.4(MET):c.4006C>T (p.Arg1336Trp)
|
rs1258671501
|
|
NM_000245.4(MET):c.4014A>G (p.Ser1338=)
|
|
|
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro)
|
rs1795658722
|
|
NM_000245.4(MET):c.4015_4017delinsCCA (p.Ala1339Pro)
|
|
|
NM_000245.4(MET):c.4017G>C (p.Ala1339=)
|
rs2023748
|
|
NM_000245.4(MET):c.4017_4018delinsAG (p.Ile1340Val)
|
|
|
NM_000245.4(MET):c.4018A>C (p.Ile1340Leu)
|
|
|
NM_000245.4(MET):c.4023C>T (p.Phe1341=)
|
rs2117111707
|
|
NM_000245.4(MET):c.4025C>G (p.Ser1342Cys)
|
rs2117111729
|
|
NM_000245.4(MET):c.4026T>C (p.Ser1342=)
|
|
|
NM_000245.4(MET):c.4029T>C (p.Thr1343=)
|
|
|
NM_000245.4(MET):c.4032C>T (p.Phe1344=)
|
|
|
NM_000245.4(MET):c.4035del (p.Ile1345fs)
|
rs1584978394
|
|
NM_000245.4(MET):c.4044C>T (p.His1348=)
|
rs1386889641
|
|
NM_000245.4(MET):c.4046A>G (p.Tyr1349Cys)
|
|
|
NM_000245.4(MET):c.4047T>C (p.Tyr1349=)
|
|
|
NM_000245.4(MET):c.404G>A (p.Ser135Asn)
|
rs1203410917
|
|
NM_000245.4(MET):c.4052A>G (p.His1351Arg)
|
rs1490801483
|
|
NM_000245.4(MET):c.4059C>T (p.Asn1353=)
|
rs45571634
|
|
NM_000245.4(MET):c.4064C>T (p.Thr1355Ile)
|
|
|
NM_000245.4(MET):c.4068T>A (p.Tyr1356Ter)
|
rs767214353
|
|
NM_000245.4(MET):c.4068T>G (p.Tyr1356Ter)
|
|
|
NM_000245.4(MET):c.4081T>G (p.Cys1361Gly)
|
rs1584978510
|
|
NM_000245.4(MET):c.4086C>A (p.Val1362=)
|
rs753757242
|
|
NM_000245.4(MET):c.4087G>T (p.Ala1363Ser)
|
rs45578433
|
|
NM_000245.4(MET):c.4089T>C (p.Ala1363=)
|
|
|
NM_000245.4(MET):c.4093T>C (p.Tyr1365His)
|
|
|
NM_000245.4(MET):c.4094A>T (p.Tyr1365Phe)
|
|
|
NM_000245.4(MET):c.4097C>T (p.Pro1366Leu)
|
rs778084120
|
|
NM_000245.4(MET):c.4098T>G (p.Pro1366=)
|
rs1645508828
|
|
NM_000245.4(MET):c.4102C>T (p.Leu1368=)
|
|
|
NM_000245.4(MET):c.4104G>A (p.Leu1368=)
|
rs1795663226
|
|
NM_000245.4(MET):c.4104G>T (p.Leu1368=)
|
|
|
NM_000245.4(MET):c.4110A>G (p.Ser1370=)
|
rs1795663778
|
|
NM_000245.4(MET):c.4112C>G (p.Ser1371Ter)
|
|
|
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala)
|
rs1584978594
|
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
rs773898036
|
|
NM_000245.4(MET):c.4118A>T (p.Asp1373Val)
|
rs773898036
|
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
rs370767911
|
|
NM_000245.4(MET):c.4123G>A (p.Ala1375Thr)
|
rs373517956
|
|
NM_000245.4(MET):c.4130A>T (p.Asp1377Val)
|
|
|
NM_000245.4(MET):c.4131T>C (p.Asp1377=)
|
|
|
NM_000245.4(MET):c.4135G>A (p.Val1379Met)
|
rs1554402266
|
|
NM_000245.4(MET):c.4135G>C (p.Val1379Leu)
|
|
|
NM_000245.4(MET):c.4136T>G (p.Val1379Gly)
|
rs2117113573
|
|
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala)
|
rs1292389793
|
|
NM_000245.4(MET):c.4142C>T (p.Thr1381Ile)
|
rs2117113682
|
|
NM_000245.4(MET):c.4144C>A (p.Arg1382=)
|
rs200315561
|
|
NM_000245.4(MET):c.4144C>G (p.Arg1382Gly)
|
rs200315561
|
|
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter)
|
rs200315561
|
|
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro)
|
rs752694306
|
|
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu)
|
rs752694306
|
|
NM_000245.4(MET):c.4146A>G (p.Arg1382=)
|
|
|
NM_000245.4(MET):c.4147C>T (p.Pro1383Ser)
|
|
|
NM_000245.4(MET):c.4150G>C (p.Ala1384Pro)
|
rs758486336
|
|
NM_000245.4(MET):c.4156T>C (p.Phe1386Leu)
|
|
|
NM_000245.4(MET):c.4159T>C (p.Trp1387Arg)
|
|
|
NM_000245.4(MET):c.4162G>A (p.Glu1388Lys)
|
|
|
NM_000245.4(MET):c.4166C>T (p.Thr1389Ile)
|
|
|
NM_000245.4(MET):c.4167A>G (p.Thr1389=)
|
rs2117114225
|
|
NM_000245.4(MET):c.4169C>T (p.Ser1390Leu)
|
|
|
NM_000245.4(MET):c.4170A>G (p.Ser1390=)
|
rs1584978746
|
|
NM_000245.4(MET):c.4170A>T (p.Ser1390=)
|
|
|
NM_000245.4(MET):c.420C>T (p.Thr140=)
|
|
|
NM_000245.4(MET):c.424C>G (p.Gln142Glu)
|
rs1554378495
|
|
NM_000245.4(MET):c.425A>G (p.Gln142Arg)
|
rs768640780
|
|
NM_000245.4(MET):c.427C>A (p.Arg143=)
|
rs779093896
|
|
NM_000245.4(MET):c.431A>C (p.His144Pro)
|
|
|
NM_000245.4(MET):c.432T>A (p.His144Gln)
|
|
|
NM_000245.4(MET):c.434T>C (p.Val145Ala)
|
|
|
NM_000245.4(MET):c.435C>A (p.Val145=)
|
|
|
NM_000245.4(MET):c.439C>T (p.Pro147Ser)
|
rs2116588845
|
|
NM_000245.4(MET):c.43C>T (p.Leu15=)
|
rs2116578733
|
|
NM_000245.4(MET):c.447T>A (p.Asn149Lys)
|
|
|
NM_000245.4(MET):c.44T>C (p.Leu15Pro)
|
|
|
NM_000245.4(MET):c.451A>G (p.Thr151Ala)
|
rs2116589147
|
|
NM_000245.4(MET):c.452C>T (p.Thr151Ile)
|
rs1584876832
|
|
NM_000245.4(MET):c.453T>C (p.Thr151=)
|
|
|
NM_000245.4(MET):c.459C>A (p.Asp153Glu)
|
|
|
NM_000245.4(MET):c.45G>C (p.Leu15=)
|
|
|
NM_000245.4(MET):c.460A>G (p.Ile154Val)
|
|
|
NM_000245.4(MET):c.464A>G (p.Gln155Arg)
|
rs2116589485
|
|
NM_000245.4(MET):c.465G>T (p.Gln155His)
|
rs863224695
|
|
NM_000245.4(MET):c.468G>A (p.Ser156=)
|
rs576502224
|
|
NM_000245.4(MET):c.468G>C (p.Ser156=)
|
rs576502224
|
|
NM_000245.4(MET):c.468G>T (p.Ser156=)
|
|
|
NM_000245.4(MET):c.471G>A (p.Glu157=)
|
rs1451799154
|
|
NM_000245.4(MET):c.471G>C (p.Glu157Asp)
|
rs1451799154
|
|
NM_000245.4(MET):c.472G>T (p.Val158Phe)
|
rs1227091238
|
|
NM_000245.4(MET):c.47T>G (p.Phe16Cys)
|
|
|
NM_000245.4(MET):c.484T>G (p.Phe162Val)
|
|
|
NM_000245.4(MET):c.491C>T (p.Pro164Leu)
|
rs1562883575
|
|
NM_000245.4(MET):c.496A>G (p.Ile166Val)
|
|
|
NM_000245.4(MET):c.496A>T (p.Ile166Leu)
|
|
|
NM_000245.4(MET):c.497T>G (p.Ile166Arg)
|
rs773830746
|
|
NM_000245.4(MET):c.501A>C (p.Glu167Asp)
|
rs1584876986
|
|
NM_000245.4(MET):c.504G>A (p.Glu168=)
|
rs55985569
|
|
NM_000245.4(MET):c.506C>G (p.Pro169Arg)
|
|
|
NM_000245.4(MET):c.50C>G (p.Thr17Ser)
|
rs747777018
|
|
NM_000245.4(MET):c.512A>C (p.Gln171Pro)
|
|
|
NM_000245.4(MET):c.514T>A (p.Cys172Ser)
|
|
|
NM_000245.4(MET):c.519T>C (p.Pro173=)
|
rs2116590943
|
|
NM_000245.4(MET):c.522C>T (p.Asp174=)
|
|
|
NM_000245.4(MET):c.52T>A (p.Leu18Met)
|
|
|
NM_000245.4(MET):c.530T>C (p.Val177Ala)
|
|
|
NM_000245.4(MET):c.531G>T (p.Val177=)
|
rs755804127
|
|
NM_000245.4(MET):c.533G>A (p.Ser178Asn)
|
|
|
NM_000245.4(MET):c.536C>A (p.Ala179Asp)
|
|
|
NM_000245.4(MET):c.538C>G (p.Leu180Val)
|
rs1584877113
|
|
NM_000245.4(MET):c.541G>T (p.Gly181Ter)
|
|
|
NM_000245.4(MET):c.549A>G (p.Lys183=)
|
|
|
NM_000245.4(MET):c.554T>A (p.Leu185His)
|
rs1791489495
|
|
NM_000245.4(MET):c.558A>G (p.Ser186=)
|
|
|
NM_000245.4(MET):c.559T>G (p.Ser187Ala)
|
|
|
NM_000245.4(MET):c.560C>A (p.Ser187Tyr)
|
|
|
NM_000245.4(MET):c.561T>A (p.Ser187=)
|
|
|
NM_000245.4(MET):c.564A>T (p.Val188=)
|
rs1791489742
|
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
rs1028165414
|
|
NM_000245.4(MET):c.570C>A (p.Asp190Glu)
|
|
|
NM_000245.4(MET):c.571C>A (p.Arg191=)
|
rs530932258
|
|
NM_000245.4(MET):c.571C>G (p.Arg191Gly)
|
rs530932258
|
|
NM_000245.4(MET):c.571C>T (p.Arg191Trp)
|
rs530932258
|
|
NM_000245.4(MET):c.579C>T (p.Ile193=)
|
|
|
NM_000245.4(MET):c.57G>A (p.Val19=)
|
rs1584875673
|
|
NM_000245.4(MET):c.57G>T (p.Val19=)
|
|
|
NM_000245.4(MET):c.581A>C (p.Asn194Thr)
|
rs370170168
|
|
NM_000245.4(MET):c.581A>G (p.Asn194Ser)
|
rs370170168
|
|
NM_000245.4(MET):c.589G>A (p.Val197Ile)
|
rs2116592694
|
|
NM_000245.4(MET):c.58C>A (p.Gln20Lys)
|
|
|
NM_000245.4(MET):c.591A>G (p.Val197=)
|
|
|
NM_000245.4(MET):c.594C>T (p.Gly198=)
|
rs549459978
|
|
NM_000245.4(MET):c.608CTT[1] (p.Ser204del)
|
rs764811491
|
|
NM_000245.4(MET):c.612T>C (p.Ser204=)
|
|
|
NM_000245.4(MET):c.621A>G (p.Pro207=)
|
rs2116593527
|
|
NM_000245.4(MET):c.622G>C (p.Asp208His)
|
|
|
NM_000245.4(MET):c.625C>G (p.His209Asp)
|
|
|
NM_000245.4(MET):c.628C>A (p.Pro210Thr)
|
rs983457211
|
|
NM_000245.4(MET):c.628C>T (p.Pro210Ser)
|
rs983457211
|
|
NM_000245.4(MET):c.633G>A (p.Leu211=)
|
rs552870344
|
|
NM_000245.4(MET):c.635A>T (p.His212Leu)
|
|
|
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
|
|
|
NM_000245.4(MET):c.640A>G (p.Ile214Val)
|
rs786203065
|
|
NM_000245.4(MET):c.647T>C (p.Val216Ala)
|
rs1396083482
|
|
NM_000245.4(MET):c.648G>C (p.Val216=)
|
|
|
NM_000245.4(MET):c.652A>C (p.Arg218=)
|
|
|
NM_000245.4(MET):c.652A>T (p.Arg218Trp)
|
|
|
NM_000245.4(MET):c.654G>T (p.Arg218Ser)
|
rs35284565
|
|
NM_000245.4(MET):c.668A>G (p.Lys223Arg)
|
|
|
NM_000245.4(MET):c.66C>A (p.Ser22Arg)
|
rs773018125
|
|
NM_000245.4(MET):c.670G>C (p.Asp224His)
|
|
|
NM_000245.4(MET):c.672T>G (p.Asp224Glu)
|
|
|
NM_000245.4(MET):c.680T>C (p.Met227Thr)
|
rs1226545782
|
|
NM_000245.4(MET):c.680T>G (p.Met227Arg)
|
|
|
NM_000245.4(MET):c.682T>G (p.Phe228Val)
|
|
|
NM_000245.4(MET):c.690G>T (p.Thr230=)
|
rs200138253
|
|
NM_000245.4(MET):c.693C>G (p.Asp231Glu)
|
|
|
NM_000245.4(MET):c.693C>T (p.Asp231=)
|
rs786203471
|
|
NM_000245.4(MET):c.698C>G (p.Ser233Cys)
|
|
|
NM_000245.4(MET):c.700T>C (p.Tyr234His)
|
|
|
NM_000245.4(MET):c.703A>G (p.Ile235Val)
|
rs1266863567
|
|
NM_000245.4(MET):c.705T>A (p.Ile235=)
|
|
|
NM_000245.4(MET):c.707A>C (p.Asp236Ala)
|
|
|
NM_000245.4(MET):c.711T>C (p.Val237=)
|
rs932492107
|
|
NM_000245.4(MET):c.713T>C (p.Leu238Ser)
|
rs34349517
|
|
NM_000245.4(MET):c.716C>G (p.Pro239Arg)
|
|
|
NM_000245.4(MET):c.718G>C (p.Glu240Gln)
|
|
|
NM_000245.4(MET):c.720G>A (p.Glu240=)
|
|
|
NM_000245.4(MET):c.721T>C (p.Phe241Leu)
|
rs746216803
|
|
NM_000245.4(MET):c.724A>G (p.Arg242Gly)
|
rs904275312
|
|
NM_000245.4(MET):c.72G>A (p.Gly24=)
|
rs770829669
|
|
NM_000245.4(MET):c.732T>G (p.Ser244=)
|
rs770202229
|
|
NM_000245.4(MET):c.733T>C (p.Tyr245His)
|
|
|
NM_000245.4(MET):c.734A>G (p.Tyr245Cys)
|
|
|
NM_000245.4(MET):c.737C>T (p.Pro246Leu)
|
|
|
NM_000245.4(MET):c.738C>A (p.Pro246=)
|
rs1461455526
|
|
NM_000245.4(MET):c.738del (p.Ile247fs)
|
|
|
NM_000245.4(MET):c.73G>A (p.Glu25Lys)
|
|
|
NM_000245.4(MET):c.742A>G (p.Lys248Glu)
|
|
|
NM_000245.4(MET):c.744G>A (p.Lys248=)
|
|
|
NM_000245.4(MET):c.744G>T (p.Lys248Asn)
|
rs1562884016
|
|
NM_000245.4(MET):c.746A>G (p.Tyr249Cys)
|
|
|
NM_000245.4(MET):c.758T>G (p.Phe253Cys)
|
|
|
NM_000245.4(MET):c.762A>G (p.Glu254=)
|
rs760278126
|
|
NM_000245.4(MET):c.770A>G (p.Asn257Ser)
|
rs759388741
|
|
NM_000245.4(MET):c.771T>C (p.Asn257=)
|
|
|
NM_000245.4(MET):c.774del (p.Phe258fs)
|
rs1281772042
|
|
NM_000245.4(MET):c.77G>A (p.Cys26Tyr)
|
rs1584875719
|
|
NM_000245.4(MET):c.788C>G (p.Thr263Arg)
|
|
|
NM_000245.4(MET):c.789G>C (p.Thr263=)
|
|
|
NM_000245.4(MET):c.789G>T (p.Thr263=)
|
rs554190225
|
|
NM_000245.4(MET):c.791T>C (p.Val264Ala)
|
|
|
NM_000245.4(MET):c.798G>C (p.Arg266Ser)
|
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
NM_000245.4(MET):c.801A>G (p.Glu267=)
|
|
|
NM_000245.4(MET):c.802A>G (p.Thr268Ala)
|
rs1554378780
|
|
NM_000245.4(MET):c.807A>C (p.Leu269=)
|
|
|
NM_000245.4(MET):c.807A>G (p.Leu269=)
|
|
|
NM_000245.4(MET):c.808G>A (p.Asp270Asn)
|
|
|
NM_000245.4(MET):c.809A>G (p.Asp270Gly)
|
rs1791503359
|
|
NM_000245.4(MET):c.80A>G (p.Lys27Arg)
|
rs555920594
|
|
NM_000245.4(MET):c.810T>C (p.Asp270=)
|
|
|
NM_000245.4(MET):c.811G>A (p.Ala271Thr)
|
rs1162540199
|
|
NM_000245.4(MET):c.812C>T (p.Ala271Val)
|
|
|
NM_000245.4(MET):c.813T>C (p.Ala271=)
|
rs750586651
|
|
NM_000245.4(MET):c.816G>C (p.Gln272His)
|
rs1168091854
|
|
NM_000245.4(MET):c.818C>G (p.Thr273Ser)
|
rs368144654
|
|
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
|
|
|
NM_000245.4(MET):c.826A>C (p.Thr276Pro)
|
rs769128478
|
|
NM_000245.4(MET):c.826A>G (p.Thr276Ala)
|
rs769128478
|
|
NM_000245.4(MET):c.829A>G (p.Arg277Gly)
|
|
|
NM_000245.4(MET):c.834A>G (p.Ile278Met)
|
|
|
NM_000245.4(MET):c.836T>C (p.Ile279Thr)
|
rs2116599173
|
|
NM_000245.4(MET):c.837C>A (p.Ile279=)
|
|
|
NM_000245.4(MET):c.837C>G (p.Ile279Met)
|
|
|
NM_000245.4(MET):c.840G>A (p.Arg280=)
|
rs1207381066
|
|
NM_000245.4(MET):c.841T>G (p.Phe281Val)
|
rs1791504987
|
|
NM_000245.4(MET):c.843C>G (p.Phe281Leu)
|
|
|
NM_000245.4(MET):c.845G>C (p.Cys282Ser)
|
rs879254343
|
|
NM_000245.4(MET):c.847T>C (p.Ser283Pro)
|
rs1791505194
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|
NM_000245.4(MET):c.855C>T (p.Asn285=)
|
rs1791505633
|
|
NM_000245.4(MET):c.85G>C (p.Ala29Pro)
|
rs765246117
|
|
NM_000245.4(MET):c.861A>T (p.Gly287=)
|
|
|
NM_000245.4(MET):c.862T>A (p.Leu288Met)
|
rs1584877825
|
|
NM_000245.4(MET):c.864G>A (p.Leu288=)
|
|
|
NM_000245.4(MET):c.866A>C (p.His289Pro)
|
rs1584877845
|
|
NM_000245.4(MET):c.86C>G (p.Ala29Gly)
|
|
|
NM_000245.4(MET):c.870C>G (p.Ser290=)
|
|
|
NM_000245.4(MET):c.871T>C (p.Tyr291His)
|
|
|
NM_000245.4(MET):c.872A>G (p.Tyr291Cys)
|
|
|
NM_000245.4(MET):c.87A>G (p.Ala29=)
|
rs1584875753
|
|
NM_000245.4(MET):c.881T>A (p.Met294Lys)
|
|
|
NM_000245.4(MET):c.884C>T (p.Pro295Leu)
|
|
|
NM_000245.4(MET):c.888G>A (p.Leu296=)
|
rs1341728679
|
|
NM_000245.4(MET):c.891G>A (p.Glu297=)
|
|
|
NM_000245.4(MET):c.893G>A (p.Cys298Tyr)
|
|
|
NM_000245.4(MET):c.903A>G (p.Thr301=)
|
|
|
NM_000245.4(MET):c.911G>T (p.Arg304Ile)
|
|
|
NM_000245.4(MET):c.912A>T (p.Arg304Ser)
|
|
|
NM_000245.4(MET):c.914A>G (p.Lys305Arg)
|
rs763935791
|
|
NM_000245.4(MET):c.915A>G (p.Lys305=)
|
|
|
NM_000245.4(MET):c.916A>C (p.Lys306Gln)
|
rs1032682239
|
|
NM_000245.4(MET):c.920G>A (p.Arg307Lys)
|
rs2116600992
|
|
NM_000245.4(MET):c.924C>G (p.Ser308=)
|
rs1791507929
|
|
NM_000245.4(MET):c.925A>C (p.Thr309Pro)
|
rs35601148
|
|
NM_000245.4(MET):c.925A>G (p.Thr309Ala)
|
|
|
NM_000245.4(MET):c.92C>T (p.Ala31Val)
|
|
|
NM_000245.4(MET):c.938T>C (p.Val313Ala)
|
rs1562884246
|
|
NM_000245.4(MET):c.93A>G (p.Ala31=)
|
rs763196530
|
|
NM_000245.4(MET):c.943A>C (p.Asn315His)
|
|
|
NM_000245.4(MET):c.943A>G (p.Asn315Asp)
|
|
|
NM_000245.4(MET):c.946A>G (p.Ile316Val)
|
|
|
NM_000245.4(MET):c.948A>T (p.Ile316=)
|
|
|
NM_000245.4(MET):c.949C>A (p.Leu317Ile)
|
rs750531377
|
|
NM_000245.4(MET):c.949C>T (p.Leu317Phe)
|
rs750531377
|
|
NM_000245.4(MET):c.955G>T (p.Ala319Ser)
|
rs545332056
|
|
NM_000245.4(MET):c.978G>A (p.Gly326=)
|
rs769507421
|
|
NM_000245.4(MET):c.979G>C (p.Ala327Pro)
|
|
|
NM_000245.4(MET):c.987T>G (p.Leu329=)
|
rs921189227
|
|
NM_000245.4(MET):c.98C>A (p.Ser33Tyr)
|
|
|
NM_000245.4(MET):c.991A>G (p.Arg331Gly)
|
rs1791512225
|
|
NM_000245.4(MET):c.992G>T (p.Arg331Ile)
|
|
|
NM_000245.4(MET):c.993A>G (p.Arg331=)
|
|
|
NM_000245.4(MET):c.994C>A (p.Gln332Lys)
|
|
|
NM_000245.4(MET):c.9C>T (p.Ala3=)
|
rs1797064273
|
|