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.2365-21G>C
|
rs140853140
|
0.00242
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_000245.4(MET):c.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.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_000245.4(MET):c.2198C>T (p.Thr733Ile)
|
rs201271860
|
0.00029
|
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.3632+42C>G
|
rs376183825
|
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.1201-14A>G
|
rs762306750
|
0.00016
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000245.4(MET):c.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.2365-14G>T
|
rs769247886
|
0.00013
|
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.1863-12T>G
|
rs35189619
|
0.00009
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln)
|
rs199763277
|
0.00008
|
NM_000245.4(MET):c.1989G>A (p.Ser663=)
|
rs201180585
|
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.4134G>A (p.Glu1378=)
|
rs879254328
|
0.00006
|
NM_000245.4(MET):c.900C>T (p.Leu300=)
|
rs540354779
|
0.00006
|
NM_000245.4(MET):c.1063G>A (p.Glu355Lys)
|
rs561295443
|
0.00005
|
NM_000245.4(MET):c.1392+17A>G
|
rs747447086
|
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.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.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.1359T>C (p.Ala453=)
|
rs755985210
|
0.00004
|
NM_000245.4(MET):c.1374A>G (p.Ser458=)
|
rs755165691
|
0.00004
|
NM_000245.4(MET):c.1392+14G>A
|
rs529823741
|
0.00004
|
NM_000245.4(MET):c.1528-13C>A
|
rs751613983
|
0.00004
|
NM_000245.4(MET):c.1863-10T>C
|
rs758048261
|
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.2342A>C (p.Glu781Ala)
|
rs771231484
|
0.00004
|
NM_000245.4(MET):c.2583+6A>G
|
rs769647929
|
0.00004
|
NM_000245.4(MET):c.2584-8C>G
|
rs370833501
|
0.00004
|
NM_000245.4(MET):c.2677T>A (p.Leu893Ile)
|
rs376104371
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.2913C>T (p.Tyr971=)
|
rs371379572
|
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.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000245.4(MET):c.739A>G (p.Ile247Val)
|
rs749728359
|
0.00004
|
NM_000245.4(MET):c.1414C>T (p.Pro472Ser)
|
rs376589619
|
0.00003
|
NM_000245.4(MET):c.1626C>T (p.His542=)
|
rs762898756
|
0.00003
|
NM_000245.4(MET):c.1701+14A>G
|
rs768638354
|
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.2271G>A (p.Gly757=)
|
rs755816605
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.2769A>C (p.Val923=)
|
rs371015065
|
0.00003
|
NM_000245.4(MET):c.2888-16T>C
|
rs1035141881
|
0.00003
|
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
|
rs768678989
|
0.00003
|
NM_000245.4(MET):c.3522+15A>G
|
rs748010112
|
0.00003
|
NM_000245.4(MET):c.3633-4G>C
|
rs1477354447
|
0.00003
|
NM_000245.4(MET):c.4086C>T (p.Val1362=)
|
rs753757242
|
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.900C>G (p.Leu300=)
|
rs540354779
|
0.00003
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.1201-15C>T
|
rs1392417542
|
0.00002
|
NM_000245.4(MET):c.1398G>A (p.Val466=)
|
rs779091695
|
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.1965+14T>C
|
rs543293293
|
0.00002
|
NM_000245.4(MET):c.2102+12T>G
|
rs199685502
|
0.00002
|
NM_000245.4(MET):c.2216G>A (p.Arg739His)
|
rs45553236
|
0.00002
|
NM_000245.4(MET):c.2264+12C>T
|
rs1220756470
|
0.00002
|
NM_000245.4(MET):c.2319G>A (p.Pro773=)
|
rs141733128
|
0.00002
|
NM_000245.4(MET):c.2373A>G (p.Gln791=)
|
rs760294359
|
0.00002
|
NM_000245.4(MET):c.2562T>C (p.Asn854=)
|
rs1060504946
|
0.00002
|
NM_000245.4(MET):c.2731-8A>T
|
rs538856434
|
0.00002
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
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.3259+18G>C
|
rs746091644
|
0.00002
|
NM_000245.4(MET):c.3378C>T (p.Thr1126=)
|
rs201111132
|
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.3522+14C>T
|
rs1353133879
|
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.4074C>T (p.Asn1358=)
|
rs772860611
|
0.00002
|
NM_000245.4(MET):c.4140C>T (p.Asp1380=)
|
rs370368651
|
0.00002
|
NM_000245.4(MET):c.743A>T (p.Lys248Met)
|
rs769181927
|
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.-7T>C
|
rs863224376
|
0.00001
|
NM_000245.4(MET):c.1068A>G (p.Pro356=)
|
rs934426317
|
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.1161G>A (p.Gln387=)
|
rs1476181476
|
0.00001
|
NM_000245.4(MET):c.1173A>G (p.Gly391=)
|
rs753309112
|
0.00001
|
NM_000245.4(MET):c.1185G>A (p.Glu395=)
|
rs1369230650
|
0.00001
|
NM_000245.4(MET):c.1200+8A>G
|
rs879254331
|
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.1224C>G (p.Gly408=)
|
rs965135961
|
0.00001
|
NM_000245.4(MET):c.1238G>A (p.Arg413His)
|
rs375391602
|
0.00001
|
NM_000245.4(MET):c.1266A>G (p.Thr422=)
|
rs1407970053
|
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.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+12C>T
|
rs201184739
|
0.00001
|
NM_000245.4(MET):c.1393-6G>A
|
rs202194405
|
0.00001
|
NM_000245.4(MET):c.1393-9G>A
|
rs1474428051
|
0.00001
|
NM_000245.4(MET):c.141C>T (p.Thr47=)
|
rs864622222
|
0.00001
|
NM_000245.4(MET):c.147A>G (p.Glu49=)
|
rs398123567
|
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.1527+13C>T
|
rs751742182
|
0.00001
|
NM_000245.4(MET):c.1528-13C>T
|
rs751613983
|
0.00001
|
NM_000245.4(MET):c.1528-9T>C
|
rs767768257
|
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.1662G>A (p.Gly554=)
|
rs779328011
|
0.00001
|
NM_000245.4(MET):c.1702-20G>A
|
rs201975734
|
0.00001
|
NM_000245.4(MET):c.1719A>G (p.Ala573=)
|
rs199776656
|
0.00001
|
NM_000245.4(MET):c.1786T>A (p.Phe596Ile)
|
rs879254332
|
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.1862+19T>C
|
rs752484484
|
0.00001
|
NM_000245.4(MET):c.1862+7A>G
|
rs1305399003
|
0.00001
|
NM_000245.4(MET):c.1862+8T>G
|
rs1366709635
|
0.00001
|
NM_000245.4(MET):c.1863-6T>C
|
rs1168220004
|
0.00001
|
NM_000245.4(MET):c.1887C>T (p.Ala629=)
|
rs1191956704
|
0.00001
|
NM_000245.4(MET):c.1902C>T (p.Phe634=)
|
rs772450441
|
0.00001
|
NM_000245.4(MET):c.1937C>A (p.Thr646Lys)
|
rs751307227
|
0.00001
|
NM_000245.4(MET):c.1966-9C>T
|
rs750268644
|
0.00001
|
NM_000245.4(MET):c.1998C>T (p.Tyr666=)
|
rs566540058
|
0.00001
|
NM_000245.4(MET):c.2046A>G (p.Leu682=)
|
rs760609715
|
0.00001
|
NM_000245.4(MET):c.2073A>G (p.Ser691=)
|
rs765318603
|
0.00001
|
NM_000245.4(MET):c.2097A>G (p.Leu699=)
|
rs199585804
|
0.00001
|
NM_000245.4(MET):c.2102+7T>C
|
rs1584941903
|
0.00001
|
NM_000245.4(MET):c.2102+9A>T
|
rs201495740
|
0.00001
|
NM_000245.4(MET):c.2103-15A>T
|
rs1471890312
|
0.00001
|
NM_000245.4(MET):c.2103-7T>G
|
rs953588907
|
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.2130T>C (p.Tyr710=)
|
rs775235138
|
0.00001
|
NM_000245.4(MET):c.2136A>G (p.Pro712=)
|
rs774439479
|
0.00001
|
NM_000245.4(MET):c.2191C>A (p.Arg731=)
|
rs377336878
|
0.00001
|
NM_000245.4(MET):c.2196G>A (p.Glu732=)
|
rs1376208948
|
0.00001
|
NM_000245.4(MET):c.2265-71G>T
|
rs1794306386
|
0.00001
|
NM_000245.4(MET):c.2364+17A>G
|
rs1169406106
|
0.00001
|
NM_000245.4(MET):c.2364+19G>T
|
rs765711111
|
0.00001
|
NM_000245.4(MET):c.2365-11T>C
|
rs1367439751
|
0.00001
|
NM_000245.4(MET):c.2365-12G>A
|
rs986494432
|
0.00001
|
NM_000245.4(MET):c.2365-16T>C
|
rs763349755
|
0.00001
|
NM_000245.4(MET):c.2370T>C (p.Cys790=)
|
rs942322578
|
0.00001
|
NM_000245.4(MET):c.2439C>T (p.Leu813=)
|
rs757296777
|
0.00001
|
NM_000245.4(MET):c.2496T>C (p.Asp832=)
|
rs769035394
|
0.00001
|
NM_000245.4(MET):c.255G>A (p.Lys85=)
|
rs1327946446
|
0.00001
|
NM_000245.4(MET):c.2583+11C>T
|
rs780485505
|
0.00001
|
NM_000245.4(MET):c.2583+7A>T
|
rs756403758
|
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.2731-10T>C
|
rs1360184564
|
0.00001
|
NM_000245.4(MET):c.2754C>T (p.Thr918=)
|
rs770886012
|
0.00001
|
NM_000245.4(MET):c.279A>C (p.Pro93=)
|
rs780928472
|
0.00001
|
NM_000245.4(MET):c.2805T>A (p.Ile935=)
|
rs763131600
|
0.00001
|
NM_000245.4(MET):c.2888-17T>C
|
rs767063578
|
0.00001
|
NM_000245.4(MET):c.291A>G (p.Pro97=)
|
rs1584876383
|
0.00001
|
NM_000245.4(MET):c.297G>A (p.Gln99=)
|
rs1584876390
|
0.00001
|
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile)
|
rs758440368
|
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.3217C>T (p.Pro1073Ser)
|
rs398123569
|
0.00001
|
NM_000245.4(MET):c.3231T>A (p.Ile1077=)
|
rs1251215478
|
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.3276A>T (p.Val1092=)
|
rs757338659
|
0.00001
|
NM_000245.4(MET):c.3289T>C (p.Leu1097=)
|
rs45583838
|
0.00001
|
NM_000245.4(MET):c.3292T>C (p.Leu1098=)
|
rs978734201
|
0.00001
|
NM_000245.4(MET):c.3318C>T (p.His1106=)
|
rs755500683
|
0.00001
|
NM_000245.4(MET):c.3341-12T>C
|
rs1235902821
|
0.00001
|
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn)
|
rs367634278
|
0.00001
|
NM_000245.4(MET):c.3423G>A (p.Ser1141=)
|
rs567551556
|
0.00001
|
NM_000245.4(MET):c.3442C>A (p.Arg1148=)
|
rs879254336
|
0.00001
|
NM_000245.4(MET):c.3495T>C (p.Leu1165=)
|
rs758902071
|
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.3633-11C>T
|
rs1424157003
|
0.00001
|
NM_000245.4(MET):c.3633-7T>C
|
rs863224379
|
0.00001
|
NM_000245.4(MET):c.3633-8T>C
|
rs1405684941
|
0.00001
|
NM_000245.4(MET):c.3633-9_3633-8insC
|
rs1562935745
|
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.3735G>A (p.Leu1245=)
|
rs1323787899
|
0.00001
|
NM_000245.4(MET):c.3798+16T>A
|
rs780154942
|
0.00001
|
NM_000245.4(MET):c.3799-10G>A
|
rs1270863054
|
0.00001
|
NM_000245.4(MET):c.3799-5A>G
|
rs1340355638
|
0.00001
|
NM_000245.4(MET):c.3804C>G (p.Ser1268=)
|
rs764822445
|
0.00001
|
NM_000245.4(MET):c.3864C>T (p.Asn1288=)
|
rs768627036
|
0.00001
|
NM_000245.4(MET):c.3935+15T>C
|
rs375531399
|
0.00001
|
NM_000245.4(MET):c.3949C>T (p.Leu1317=)
|
rs1219703716
|
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.4008G>A (p.Arg1336=)
|
rs373857586
|
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.4119T>C (p.Asp1373=)
|
rs771571698
|
0.00001
|
NM_000245.4(MET):c.4122C>T (p.Asn1374=)
|
rs370767911
|
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.573G>T (p.Arg191=)
|
rs1433702089
|
0.00001
|
NM_000245.4(MET):c.585C>T (p.Phe195=)
|
rs587780737
|
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.630A>G (p.Pro210=)
|
rs770257335
|
0.00001
|
NM_000245.4(MET):c.631T>C (p.Leu211=)
|
rs1584877307
|
0.00001
|
NM_000245.4(MET):c.669A>G (p.Lys223=)
|
rs863224380
|
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.738C>T (p.Pro246=)
|
rs1461455526
|
0.00001
|
NM_000245.4(MET):c.753T>C (p.His251=)
|
rs1392829448
|
0.00001
|
NM_000245.4(MET):c.768C>T (p.Asn256=)
|
rs1221580502
|
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.821T>C (p.Phe274Ser)
|
rs758569834
|
0.00001
|
NM_000245.4(MET):c.828A>G (p.Thr276=)
|
rs779512046
|
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.99C>T (p.Ser33=)
|
rs1363905218
|
0.00001
|
NM_000245.4(MET):c.1005C>T (p.Ala335=)
|
|
|
NM_000245.4(MET):c.1011G>A (p.Leu337=)
|
rs886061942
|
|
NM_000245.4(MET):c.1014T>C (p.Asn338=)
|
rs2116603344
|
|
NM_000245.4(MET):c.1017T>C (p.Asp339=)
|
rs2116603439
|
|
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.1041A>C (p.Ala347=)
|
rs1791515202
|
|
NM_000245.4(MET):c.1050G>A (p.Lys350=)
|
rs1060504940
|
|
NM_000245.4(MET):c.1062C>A (p.Ala354=)
|
|
|
NM_000245.4(MET):c.1065A>G (p.Glu355=)
|
rs1584878304
|
|
NM_000245.4(MET):c.1074T>C (p.Asp358=)
|
rs1584878345
|
|
NM_000245.4(MET):c.1077A>G (p.Arg359=)
|
|
|
NM_000245.4(MET):c.1083C>G (p.Ala361=)
|
|
|
NM_000245.4(MET):c.1083C>T (p.Ala361=)
|
rs1044616410
|
|
NM_000245.4(MET):c.108T>C (p.Asn36=)
|
rs2116580390
|
|
NM_000245.4(MET):c.1092A>G (p.Ala364=)
|
|
|
NM_000245.4(MET):c.1104A>G (p.Lys368=)
|
|
|
NM_000245.4(MET):c.1107T>C (p.Tyr369=)
|
rs1554379127
|
|
NM_000245.4(MET):c.1125C>T (p.Asn375=)
|
rs776693512
|
|
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.1143C>T (p.Asn381=)
|
rs764685570
|
|
NM_000245.4(MET):c.1146T>C (p.Asn382=)
|
|
|
NM_000245.4(MET):c.1149G>A (p.Val383=)
|
rs1033586067
|
|
NM_000245.4(MET):c.1155T>C (p.Cys385=)
|
|
|
NM_000245.4(MET):c.1158C>A (p.Leu386=)
|
|
|
NM_000245.4(MET):c.1158C>G (p.Leu386=)
|
|
|
NM_000245.4(MET):c.1158C>T (p.Leu386=)
|
rs1554379184
|
|
NM_000245.4(MET):c.1170C>T (p.Tyr390=)
|
rs45552236
|
|
NM_000245.4(MET):c.1179T>C (p.Asn393=)
|
|
|
NM_000245.4(MET):c.1188C>T (p.His396=)
|
|
|
NM_000245.4(MET):c.1197T>C (p.Asn399=)
|
rs1791526414
|
|
NM_000245.4(MET):c.1200+10A>T
|
rs746880479
|
|
NM_000245.4(MET):c.1200+12C>T
|
|
|
NM_000245.4(MET):c.1200+14G>A
|
rs1791529199
|
|
NM_000245.4(MET):c.1200+20C>T
|
|
|
NM_000245.4(MET):c.1200+9C>T
|
|
|
NM_000245.4(MET):c.1201-12A>C
|
rs2116778819
|
|
NM_000245.4(MET):c.1201-18G>A
|
|
|
NM_000245.4(MET):c.1201-20A>C
|
|
|
NM_000245.4(MET):c.1201-20A>G
|
|
|
NM_000245.4(MET):c.1201-7A>T
|
|
|
NM_000245.4(MET):c.1201-8T>C
|
|
|
NM_000245.4(MET):c.1201-8T>G
|
rs2116778881
|
|
NM_000245.4(MET):c.1201-9T>G
|
rs768133322
|
|
NM_000245.4(MET):c.1215T>C (p.Asn405=)
|
rs2116779466
|
|
NM_000245.4(MET):c.1218A>C (p.Ser406=)
|
rs1358705636
|
|
NM_000245.4(MET):c.1245A>G (p.Glu415=)
|
rs2116780402
|
|
NM_000245.4(MET):c.1248T>C (p.Tyr416=)
|
rs745726656
|
|
NM_000245.4(MET):c.1249C>A (p.Arg417=)
|
|
|
NM_000245.4(MET):c.1254A>G (p.Thr418=)
|
|
|
NM_000245.4(MET):c.1263C>A (p.Thr421=)
|
rs45499391
|
|
NM_000245.4(MET):c.1272G>A (p.Leu424=)
|
rs1342295714
|
|
NM_000245.4(MET):c.1281T>A (p.Val427=)
|
|
|
NM_000245.4(MET):c.1296T>C (p.Gly432=)
|
rs200255054
|
|
NM_000245.4(MET):c.1296T>G (p.Gly432=)
|
rs200255054
|
|
NM_000245.4(MET):c.129T>C (p.Leu43=)
|
|
|
NM_000245.4(MET):c.12C>G (p.Pro4=)
|
rs772251895
|
|
NM_000245.4(MET):c.1302C>T (p.Phe434=)
|
rs2116782064
|
|
NM_000245.4(MET):c.1314C>T (p.Leu438=)
|
rs2116782411
|
|
NM_000245.4(MET):c.1317A>G (p.Leu439=)
|
rs2116782479
|
|
NM_000245.4(MET):c.1344A>T (p.Gly448=)
|
|
|
NM_000245.4(MET):c.1350C>T (p.Leu450=)
|
rs2116783338
|
|
NM_000245.4(MET):c.135C>T (p.Asn45=)
|
|
|
NM_000245.4(MET):c.1362T>C (p.Asn454=)
|
|
|
NM_000245.4(MET):c.1377G>A (p.Glu459=)
|
|
|
NM_000245.4(MET):c.1392+10T>G
|
rs2116784727
|
|
NM_000245.4(MET):c.1392+13T>G
|
|
|
NM_000245.4(MET):c.1392+17A>T
|
rs747447086
|
|
NM_000245.4(MET):c.1392+18G>C
|
rs2116784901
|
|
NM_000245.4(MET):c.1392+19T>C
|
rs2116784923
|
|
NM_000245.4(MET):c.1392+7G>A
|
|
|
NM_000245.4(MET):c.1392+9T>C
|
rs2116784701
|
|
NM_000245.4(MET):c.1393-10T>C
|
rs2116825333
|
|
NM_000245.4(MET):c.1393-12T>C
|
|
|
NM_000245.4(MET):c.1393-18A>G
|
|
|
NM_000245.4(MET):c.1393-19T>C
|
rs995271235
|
|
NM_000245.4(MET):c.1393-2A>T
|
rs1584921898
|
|
NM_000245.4(MET):c.1393-6G>C
|
rs202194405
|
|
NM_000245.4(MET):c.1393-8C>G
|
rs2116825376
|
|
NM_000245.4(MET):c.1401T>G (p.Val467=)
|
rs2116825709
|
|
NM_000245.4(MET):c.1416A>G (p.Pro472=)
|
|
|
NM_000245.4(MET):c.141C>G (p.Thr47=)
|
rs864622222
|
|
NM_000245.4(MET):c.1422C>T (p.Thr474=)
|
|
|
NM_000245.4(MET):c.1428T>C (p.His476=)
|
rs1432416607
|
|
NM_000245.4(MET):c.1431G>A (p.Val477=)
|
|
|
NM_000245.4(MET):c.1449C>T (p.Ser483=)
|
rs1458827441
|
|
NM_000245.4(MET):c.1455A>G (p.Pro485=)
|
rs1554390925
|
|
NM_000245.4(MET):c.146A>C (p.Glu49Ala)
|
rs370499060
|
|
NM_000245.4(MET):c.1470G>C (p.Val490=)
|
rs1281860482
|
|
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.1485A>C (p.Thr495=)
|
rs760256871
|
|
NM_000245.4(MET):c.1485A>G (p.Thr495=)
|
rs760256871
|
|
NM_000245.4(MET):c.1488A>G (p.Leu496=)
|
rs2116827541
|
|
NM_000245.4(MET):c.1503C>T (p.Tyr501=)
|
rs2116827932
|
|
NM_000245.4(MET):c.1506A>T (p.Thr502=)
|
|
|
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.1527+11C>T
|
|
|
NM_000245.4(MET):c.1527+15C>A
|
rs757455983
|
|
NM_000245.4(MET):c.1527+15C>T
|
rs757455983
|
|
NM_000245.4(MET):c.1527+17G>A
|
rs746281781
|
|
NM_000245.4(MET):c.1527+18G>A
|
|
|
NM_000245.4(MET):c.1528-10C>G
|
rs757448894
|
|
NM_000245.4(MET):c.1528-11T>C
|
|
|
NM_000245.4(MET):c.1528-14C>T
|
rs2116833406
|
|
NM_000245.4(MET):c.1528-16C>T
|
|
|
NM_000245.4(MET):c.1528-19C>T
|
|
|
NM_000245.4(MET):c.1528-20T>C
|
|
|
NM_000245.4(MET):c.1528-20T>G
|
|
|
NM_000245.4(MET):c.1528-8C>T
|
|
|
NM_000245.4(MET):c.1528-9T>A
|
|
|
NM_000245.4(MET):c.1533G>C (p.Thr511=)
|
|
|
NM_000245.4(MET):c.1539C>A (p.Ile513=)
|
|
|
NM_000245.4(MET):c.1542A>G (p.Pro514=)
|
rs1584923096
|
|
NM_000245.4(MET):c.1548T>C (p.Asn516=)
|
rs1554391232
|
|
NM_000245.4(MET):c.1552T>C (p.Leu518=)
|
rs780293990
|
|
NM_000245.4(MET):c.1563A>G (p.Arg521=)
|
rs755470995
|
|
NM_000245.4(MET):c.1587C>T (p.Cys529=)
|
|
|
NM_000245.4(MET):c.1590C>A (p.Leu530=)
|
|
|
NM_000245.4(MET):c.1590C>G (p.Leu530=)
|
|
|
NM_000245.4(MET):c.1593T>G (p.Ser531=)
|
|
|
NM_000245.4(MET):c.159G>A (p.Gln53=)
|
|
|
NM_000245.4(MET):c.1602C>A (p.Pro534=)
|
rs1554391268
|
|
NM_000245.4(MET):c.1602C>T (p.Pro534=)
|
|
|
NM_000245.4(MET):c.1611G>A (p.Gln537=)
|
|
|
NM_000245.4(MET):c.1617C>G (p.Gly539=)
|
rs776490266
|
|
NM_000245.4(MET):c.1629C>T (p.Asp543=)
|
rs2116836336
|
|
NM_000245.4(MET):c.1638G>A (p.Val546=)
|
rs1240760202
|
|
NM_000245.4(MET):c.1641A>C (p.Arg547=)
|
rs1554391313
|
|
NM_000245.4(MET):c.1647G>A (p.Glu549=)
|
rs1584923365
|
|
NM_000245.4(MET):c.1650A>G (p.Glu550=)
|
rs2116836870
|
|
NM_000245.4(MET):c.1654C>T (p.Leu552=)
|
|
|
NM_000245.4(MET):c.1656G>A (p.Leu552=)
|
|
|
NM_000245.4(MET):c.1665A>G (p.Thr555=)
|
rs1554391336
|
|
NM_000245.4(MET):c.1665A>T (p.Thr555=)
|
rs1554391336
|
|
NM_000245.4(MET):c.1671T>C (p.Thr557=)
|
rs2116837479
|
|
NM_000245.4(MET):c.1677G>A (p.Gln559=)
|
rs1290346524
|
|
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.1692A>C (p.Ala564=)
|
|
|
NM_000245.4(MET):c.1692A>G (p.Ala564=)
|
rs780855618
|
|
NM_000245.4(MET):c.1701+11_1701+12del
|
rs2116838472
|
|
NM_000245.4(MET):c.1701+12T>C
|
rs2116838554
|
|
NM_000245.4(MET):c.1701+14dup
|
rs1295548832
|
|
NM_000245.4(MET):c.1701+15C>T
|
|
|
NM_000245.4(MET):c.1701+16A>G
|
|
|
NM_000245.4(MET):c.1701+18C>T
|
|
|
NM_000245.4(MET):c.1701+20G>A
|
|
|
NM_000245.4(MET):c.1702-10G>A
|
rs2116908387
|
|
NM_000245.4(MET):c.1702-11T>C
|
|
|
NM_000245.4(MET):c.1702-11del
|
|
|
NM_000245.4(MET):c.1702-13G>A
|
|
|
NM_000245.4(MET):c.1702-15A>C
|
rs200635057
|
|
NM_000245.4(MET):c.1702-15A>G
|
|
|
NM_000245.4(MET):c.1702-17C>G
|
|
|
NM_000245.4(MET):c.1702-17C>T
|
|
|
NM_000245.4(MET):c.1702-18T>A
|
|
|
NM_000245.4(MET):c.1702-18T>G
|
|
|
NM_000245.4(MET):c.1702-8C>T
|
rs1554394916
|
|
NM_000245.4(MET):c.1713T>C (p.Asn571=)
|
|
|
NM_000245.4(MET):c.1716T>C (p.Ser572=)
|
rs1382410716
|
|
NM_000245.4(MET):c.1719A>C (p.Ala573=)
|
rs199776656
|
|
NM_000245.4(MET):c.1722C>A (p.Pro574=)
|
rs1562920359
|
|
NM_000245.4(MET):c.1722C>T (p.Pro574=)
|
rs1562920359
|
|
NM_000245.4(MET):c.1731A>C (p.Gly577=)
|
rs2116909048
|
|
NM_000245.4(MET):c.1734G>A (p.Gly578=)
|
rs2116909104
|
|
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.174T>C (p.His58=)
|
rs1554378291
|
|
NM_000245.4(MET):c.1752T>C (p.Cys584=)
|
rs2116909383
|
|
NM_000245.4(MET):c.1764T>C (p.Phe588=)
|
rs2116909571
|
|
NM_000245.4(MET):c.1773G>A (p.Arg591=)
|
|
|
NM_000245.4(MET):c.1791T>C (p.Asp597=)
|
|
|
NM_000245.4(MET):c.1794A>G (p.Leu598=)
|
rs2116910054
|
|
NM_000245.4(MET):c.1803T>C (p.Thr601=)
|
rs763481809
|
|
NM_000245.4(MET):c.1821T>C (p.Asn607=)
|
|
|
NM_000245.4(MET):c.1824G>A (p.Glu608=)
|
rs2116910513
|
|
NM_000245.4(MET):c.1833C>A (p.Thr611=)
|
rs924927810
|
|
NM_000245.4(MET):c.1845T>C (p.Ser615=)
|
rs2116910884
|
|
NM_000245.4(MET):c.1860T>C (p.Asn620=)
|
|
|
NM_000245.4(MET):c.1862+12A>G
|
|
|
NM_000245.4(MET):c.1862+7A>C
|
|
|
NM_000245.4(MET):c.1862+8T>A
|
|
|
NM_000245.4(MET):c.1862+8T>C
|
|
|
NM_000245.4(MET):c.1863-11T>C
|
rs2116919514
|
|
NM_000245.4(MET):c.1863-13G>C
|
rs764856420
|
|
NM_000245.4(MET):c.1863-13G>T
|
|
|
NM_000245.4(MET):c.1863-16T>C
|
rs759151928
|
|
NM_000245.4(MET):c.1863-17_1863-16del
|
|
|
NM_000245.4(MET):c.1863-18T>C
|
|
|
NM_000245.4(MET):c.1863-19C>T
|
|
|
NM_000245.4(MET):c.1863-5T>C
|
rs751421114
|
|
NM_000245.4(MET):c.1863-7T>C
|
rs763829971
|
|
NM_000245.4(MET):c.1863-7T>G
|
rs763829971
|
|
NM_000245.4(MET):c.1869A>G (p.Lys623=)
|
|
|
NM_000245.4(MET):c.186T>A (p.Ile62=)
|
rs2116582418
|
|
NM_000245.4(MET):c.1872C>T (p.Cys624=)
|
|
|
NM_000245.4(MET):c.1875A>T (p.Thr625=)
|
|
|
NM_000245.4(MET):c.1881T>G (p.Gly627=)
|
rs200050499
|
|
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.1911C>T (p.Ser637=)
|
rs2116920428
|
|
NM_000245.4(MET):c.1923A>G (p.Ser641=)
|
|
|
NM_000245.4(MET):c.1938A>G (p.Thr646=)
|
rs2116920903
|
|
NM_000245.4(MET):c.1938A>T (p.Thr646=)
|
|
|
NM_000245.4(MET):c.1953A>G (p.Thr651=)
|
rs2116921218
|
|
NM_000245.4(MET):c.1965+10_1965+11insAA
|
rs754083112
|
|
NM_000245.4(MET):c.1965+11T>C
|
|
|
NM_000245.4(MET):c.1965+11T>G
|
rs780230492
|
|
NM_000245.4(MET):c.1965+19_1965+20insTACCAAAA
|
|
|
NM_000245.4(MET):c.1965+20A>G
|
rs587777952
|
|
NM_000245.4(MET):c.1965+7A>G
|
rs2116921524
|
|
NM_000245.4(MET):c.1965+9G>A
|
rs2116921566
|
|
NM_000245.4(MET):c.1966-11C>T
|
rs2116922731
|
|
NM_000245.4(MET):c.1966-13A>T
|
rs767305539
|
|
NM_000245.4(MET):c.1966-16T>C
|
|
|
NM_000245.4(MET):c.1966-7C>A
|
|
|
NM_000245.4(MET):c.1966-7C>T
|
|
|
NM_000245.4(MET):c.1966-8C>G
|
|
|
NM_000245.4(MET):c.1968T>C (p.Asp656=)
|
|
|
NM_000245.4(MET):c.1971T>C (p.Pro657=)
|
|
|
NM_000245.4(MET):c.1973T>C (p.Val658Ala)
|
rs1584941533
|
|
NM_000245.4(MET):c.1974A>G (p.Val658=)
|
|
|
NM_000245.4(MET):c.1989G>C (p.Ser663=)
|
|
|
NM_000245.4(MET):c.1989G>T (p.Ser663=)
|
rs201180585
|
|
NM_000245.4(MET):c.1992G>T (p.Pro664=)
|
|
|
NM_000245.4(MET):c.2034T>G (p.Thr678=)
|
rs773107496
|
|
NM_000245.4(MET):c.2037A>G (p.Gly679=)
|
|
|
NM_000245.4(MET):c.2046A>C (p.Leu682=)
|
rs760609715
|
|
NM_000245.4(MET):c.204C>T (p.Asn68=)
|
|
|
NM_000245.4(MET):c.2061T>C (p.Ser687=)
|
rs776651937
|
|
NM_000245.4(MET):c.2070T>C (p.Ile690=)
|
rs759396158
|
|
NM_000245.4(MET):c.2079T>A (p.Gly693=)
|
rs1584941818
|
|
NM_000245.4(MET):c.2079T>C (p.Gly693=)
|
rs1584941818
|
|
NM_000245.4(MET):c.207C>T (p.Tyr69=)
|
rs1454856933
|
|
NM_000245.4(MET):c.2082A>C (p.Gly694=)
|
rs1156480798
|
|
NM_000245.4(MET):c.2088A>G (p.Thr696=)
|
rs201378674
|
|
NM_000245.4(MET):c.2088A>T (p.Thr696=)
|
rs201378674
|
|
NM_000245.4(MET):c.2091T>C (p.Cys697=)
|
|
|
NM_000245.4(MET):c.2102+16T>G
|
|
|
NM_000245.4(MET):c.2102+9A>C
|
|
|
NM_000245.4(MET):c.2103-15del
|
rs1164805994
|
|
NM_000245.4(MET):c.2103-16A>G
|
|
|
NM_000245.4(MET):c.2103-16_2103-11dup
|
|
|
NM_000245.4(MET):c.2103-1G>T
|
rs1336351205
|
|
NM_000245.4(MET):c.2103-20_2103-17del
|
rs2116929536
|
|
NM_000245.4(MET):c.2103-2A>T
|
rs1470403316
|
|
NM_000245.4(MET):c.2103-6G>A
|
rs1475118987
|
|
NM_000245.4(MET):c.2103-9T>C
|
|
|
NM_000245.4(MET):c.2103-9T>G
|
rs763948315
|
|
NM_000245.4(MET):c.2145C>A (p.Thr715=)
|
rs1584942689
|
|
NM_000245.4(MET):c.2145C>T (p.Thr715=)
|
rs1584942689
|
|
NM_000245.4(MET):c.2157G>A (p.Glu719=)
|
rs2116930988
|
|
NM_000245.4(MET):c.2160T>C (p.Phe720=)
|
|
|
NM_000245.4(MET):c.2163T>A (p.Ala721=)
|
rs2116931078
|
|
NM_000245.4(MET):c.2166T>G (p.Val722=)
|
rs2116931135
|
|
NM_000245.4(MET):c.2169A>G (p.Lys723=)
|
|
|
NM_000245.4(MET):c.2175A>G (p.Lys725=)
|
|
|
NM_000245.4(MET):c.2178T>C (p.Ile726=)
|
|
|
NM_000245.4(MET):c.2181C>T (p.Asp727=)
|
rs1487292146
|
|
NM_000245.4(MET):c.21T>G (p.Leu7=)
|
rs2116578054
|
|
NM_000245.4(MET):c.2202C>T (p.Ser734=)
|
|
|
NM_000245.4(MET):c.2205C>T (p.Ile735=)
|
rs1584942785
|
|
NM_000245.4(MET):c.2214C>T (p.Tyr738=)
|
|
|
NM_000245.4(MET):c.2220A>G (p.Glu740=)
|
rs1554395720
|
|
NM_000245.4(MET):c.222T>C (p.Asn74=)
|
rs767934760
|
|
NM_000245.4(MET):c.2232C>G (p.Val744=)
|
rs1060504944
|
|
NM_000245.4(MET):c.2244T>C (p.His748=)
|
rs2116932632
|
|
NM_000245.4(MET):c.2253A>G (p.Lys751=)
|
|
|
NM_000245.4(MET):c.2259T>C (p.Phe753=)
|
rs2116932790
|
|
NM_000245.4(MET):c.2264+10A>C
|
|
|
NM_000245.4(MET):c.2264+15C>T
|
|
|
NM_000245.4(MET):c.2264+17G>A
|
rs1794280747
|
|
NM_000245.4(MET):c.2264+18A>G
|
rs1449726871
|
|
NM_000245.4(MET):c.2264+20G>A
|
|
|
NM_000245.4(MET):c.2264+9A>C
|
|
|
NM_000245.4(MET):c.2265-15A>C
|
rs201304108
|
|
NM_000245.4(MET):c.2265-15A>G
|
rs201304108
|
|
NM_000245.4(MET):c.2265-18T>C
|
|
|
NM_000245.4(MET):c.2265-30C>T
|
rs2116937120
|
|
NM_000245.4(MET):c.2265-33C>A
|
rs2116937074
|
|
NM_000245.4(MET):c.2265-3C>T
|
|
|
NM_000245.4(MET):c.2265-60T>A
|
|
|
NM_000245.4(MET):c.2265-65C>G
|
rs2116936655
|
|
NM_000245.4(MET):c.2265-65C>T
|
rs2116936655
|
|
NM_000245.4(MET):c.2265-66C>T
|
|
|
NM_000245.4(MET):c.2265-71G>A
|
|
|
NM_000245.4(MET):c.2265-72T>C
|
|
|
NM_000245.4(MET):c.2265-73T>C
|
rs1794306292
|
|
NM_000245.4(MET):c.2265-9C>T
|
rs2116937381
|
|
NM_000245.4(MET):c.2271G>T (p.Gly757=)
|
|
|
NM_000245.4(MET):c.2277A>G (p.Thr759=)
|
rs1584943719
|
|
NM_000245.4(MET):c.2280A>T (p.Ile760=)
|
rs2116937734
|
|
NM_000245.4(MET):c.228A>G (p.Glu76=)
|
|
|
NM_000245.4(MET):c.2304T>C (p.Asn768=)
|
rs2116938117
|
|
NM_000245.4(MET):c.2307A>G (p.Ser769=)
|
rs2116938175
|
|
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.2328C>T (p.Val776=)
|
|
|
NM_000245.4(MET):c.2337G>A (p.Val779=)
|
rs863224377
|
|
NM_000245.4(MET):c.2361A>G (p.Thr787=)
|
rs1027607387
|
|
NM_000245.4(MET):c.2364+11T>G
|
rs2116939479
|
|
NM_000245.4(MET):c.2364+13A>G
|
|
|
NM_000245.4(MET):c.2364+18T>C
|
|
|
NM_000245.4(MET):c.2364+8del
|
rs1422359365
|
|
NM_000245.4(MET):c.2365-10C>G
|
rs2116953381
|
|
NM_000245.4(MET):c.2365-11T>A
|
rs1367439751
|
|
NM_000245.4(MET):c.2365-19T>A
|
|
|
NM_000245.4(MET):c.2365-4C>G
|
rs1060504943
|
|
NM_000245.4(MET):c.2365-5T>C
|
|
|
NM_000245.4(MET):c.2367A>C (p.Ala789=)
|
|
|
NM_000245.4(MET):c.2367A>G (p.Ala789=)
|
rs910873191
|
|
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.2388A>G (p.Ser796=)
|
|
|
NM_000245.4(MET):c.2391G>A (p.Glu797=)
|
rs2116954046
|
|
NM_000245.4(MET):c.2403T>C (p.Cys801=)
|
|
|
NM_000245.4(MET):c.2406C>T (p.Thr802=)
|
rs1433483763
|
|
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.240G>A (p.Lys80=)
|
rs2116583694
|
|
NM_000245.4(MET):c.2412T>C (p.Pro804=)
|
rs2116954506
|
|
NM_000245.4(MET):c.2418G>A (p.Leu806=)
|
rs2116954628
|
|
NM_000245.4(MET):c.2424G>A (p.Gln808=)
|
|
|
NM_000245.4(MET):c.2427G>A (p.Leu809=)
|
rs1794462604
|
|
NM_000245.4(MET):c.2431C>T (p.Leu811=)
|
rs1584946893
|
|
NM_000245.4(MET):c.2434C>G (p.Gln812Glu)
|
rs398123568
|
|
NM_000245.4(MET):c.2442C>T (p.Pro814=)
|
|
|
NM_000245.4(MET):c.2443C>T (p.Leu815=)
|
rs2116955196
|
|
NM_000245.4(MET):c.2445G>A (p.Leu815=)
|
|
|
NM_000245.4(MET):c.2451C>A (p.Thr817=)
|
rs2116955318
|
|
NM_000245.4(MET):c.2451C>G (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.2475G>A (p.Gly825=)
|
rs891908277
|
|
NM_000245.4(MET):c.2499C>T (p.Leu833=)
|
|
|
NM_000245.4(MET):c.249G>A (p.Glu83=)
|
rs751158831
|
|
NM_000245.4(MET):c.2508A>G (p.Val836=)
|
rs1322202293
|
|
NM_000245.4(MET):c.2514T>C (p.Asn838=)
|
|
|
NM_000245.4(MET):c.2517T>G (p.Pro839=)
|
rs1584947055
|
|
NM_000245.4(MET):c.2520G>A (p.Val840=)
|
|
|
NM_000245.4(MET):c.252C>T (p.Tyr84=)
|
rs1584876265
|
|
NM_000245.4(MET):c.2532T>C (p.Phe844=)
|
rs1295247757
|
|
NM_000245.4(MET):c.2541A>G (p.Pro847=)
|
rs2116956820
|
|
NM_000245.4(MET):c.2550C>T (p.Ile850=)
|
rs1424567821
|
|
NM_000245.4(MET):c.2559C>A (p.Gly853=)
|
|
|
NM_000245.4(MET):c.2559C>T (p.Gly853=)
|
|
|
NM_000245.4(MET):c.2583+10G>T
|
rs2116957648
|
|
NM_000245.4(MET):c.2583+11C>A
|
rs780485505
|
|
NM_000245.4(MET):c.2583+11C>G
|
|
|
NM_000245.4(MET):c.2583+13T>C
|
rs2116957699
|
|
NM_000245.4(MET):c.2583+14T>C
|
|
|
NM_000245.4(MET):c.2583+19A>G
|
|
|
NM_000245.4(MET):c.2584-10T>C
|
rs1308148206
|
|
NM_000245.4(MET):c.2584-10T>G
|
rs1308148206
|
|
NM_000245.4(MET):c.2584-1G>T
|
rs1240673121
|
|
NM_000245.4(MET):c.2584-3C>T
|
rs1337305891
|
|
NM_000245.4(MET):c.2584-4T>C
|
rs1554397896
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000245.4(MET):c.2584-8C>T
|
rs370833501
|
|
NM_000245.4(MET):c.2584-9T>G
|
rs74994656
|
|
NM_000245.4(MET):c.2584-9_2584-8del
|
rs1491102590
|
|
NM_000245.4(MET):c.2586A>G (p.Gly862=)
|
|
|
NM_000245.4(MET):c.258T>G (p.Thr86=)
|
rs756911444
|
|
NM_000245.4(MET):c.2595T>C (p.Ile865=)
|
rs2116982595
|
|
NM_000245.4(MET):c.2601T>A (p.Pro867=)
|
rs2116982713
|
|
NM_000245.4(MET):c.2604A>G (p.Glu868=)
|
|
|
NM_000245.4(MET):c.2616T>C (p.Gly872=)
|
rs863224378
|
|
NM_000245.4(MET):c.261G>T (p.Gly87=)
|
rs2116584241
|
|
NM_000245.4(MET):c.2622G>C (p.Val874=)
|
|
|
NM_000245.4(MET):c.2631T>C (p.Val877=)
|
|
|
NM_000245.4(MET):c.2640G>A (p.Lys880=)
|
|
|
NM_000245.4(MET):c.2658C>A (p.His886Gln)
|
rs748950533
|
|
NM_000245.4(MET):c.2670A>G (p.Glu890=)
|
|
|
NM_000245.4(MET):c.2685G>C (p.Thr895=)
|
rs760722037
|
|
NM_000245.4(MET):c.2697C>T (p.Asp899=)
|
rs1584953336
|
|
NM_000245.4(MET):c.2700G>T (p.Leu900=)
|
rs921308683
|
|
NM_000245.4(MET):c.2703G>A (p.Leu901=)
|
rs1374413099
|
|
NM_000245.4(MET):c.2707T>C (p.Leu903=)
|
rs2116984374
|
|
NM_000245.4(MET):c.270G>A (p.Leu90=)
|
|
|
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.2730+8T>C
|
|
|
NM_000245.4(MET):c.2731-11G>A
|
|
|
NM_000245.4(MET):c.2731-11del
|
|
|
NM_000245.4(MET):c.2731-13T>C
|
|
|
NM_000245.4(MET):c.2731-17T>C
|
|
|
NM_000245.4(MET):c.2731-18T>G
|
|
|
NM_000245.4(MET):c.2731-4T>C
|
rs2116991247
|
|
NM_000245.4(MET):c.2731-6T>C
|
rs1279722189
|
|
NM_000245.4(MET):c.2742A>G (p.Ala914=)
|
rs1208554913
|
|
NM_000245.4(MET):c.2748T>G (p.Ser916=)
|
|
|
NM_000245.4(MET):c.2754C>A (p.Thr918=)
|
rs770886012
|
|
NM_000245.4(MET):c.2760T>C (p.Leu920=)
|
rs1554398258
|
|
NM_000245.4(MET):c.2769A>G (p.Val923=)
|
rs371015065
|
|
NM_000245.4(MET):c.276C>T (p.His92=)
|
rs1224680436
|
|
NM_000245.4(MET):c.2772A>T (p.Ile924=)
|
rs2116991891
|
|
NM_000245.4(MET):c.2790T>C (p.Asn930=)
|
rs933744184
|
|
NM_000245.4(MET):c.279A>G (p.Pro93=)
|
|
|
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.2829A>G (p.Thr943=)
|
|
|
NM_000245.4(MET):c.2832A>C (p.Ala944=)
|
rs1584955001
|
|
NM_000245.4(MET):c.2835G>C (p.Leu945=)
|
rs2116992677
|
|
NM_000245.4(MET):c.2842C>T (p.Leu948=)
|
|
|
NM_000245.4(MET):c.2844A>G (p.Leu948=)
|
rs2116992782
|
|
NM_000245.4(MET):c.2850G>A (p.Gly950=)
|
|
|
NM_000245.4(MET):c.2859G>C (p.Leu953=)
|
rs1355100822
|
|
NM_000245.4(MET):c.285T>C (p.Cys95=)
|
rs2116584893
|
|
NM_000245.4(MET):c.2865G>A (p.Leu955=)
|
|
|
NM_000245.4(MET):c.2874A>G (p.Arg958=)
|
rs1452848504
|
|
NM_000245.4(MET):c.2887+12T>C
|
|
|
NM_000245.4(MET):c.2887+16T>A
|
rs1156790048
|
|
NM_000245.4(MET):c.2887+17G>A
|
|
|
NM_000245.4(MET):c.2887+17G>C
|
|
|
NM_000245.4(MET):c.2887+17G>T
|
|
|
NM_000245.4(MET):c.2887+17_2887+18del
|
|
|
NM_000245.4(MET):c.2887+18T>C
|
|
|
NM_000245.4(MET):c.2887+9T>C
|
|
|
NM_000245.4(MET):c.2888-10C>G
|
rs1060504945
|
|
NM_000245.4(MET):c.2888-12C>G
|
|
|
NM_000245.4(MET):c.2888-12_2888-9del
|
|
|
NM_000245.4(MET):c.2888-15T>C
|
rs2116995611
|
|
NM_000245.4(MET):c.2888-16_2888-13del
|
rs747887276
|
|
NM_000245.4(MET):c.2888-17T>G
|
rs767063578
|
|
NM_000245.4(MET):c.2888-18C>G
|
|
|
NM_000245.4(MET):c.2888-21_2888-20delinsGC
|
rs2116995433
|
|
NM_000245.4(MET):c.2902T>C (p.Leu968=)
|
|
|
NM_000245.4(MET):c.2910C>T (p.Arg970=)
|
rs756957004
|
|
NM_000245.4(MET):c.2928C>T (p.His976=)
|
rs2116996392
|
|
NM_000245.4(MET):c.2937T>C (p.His979=)
|
|
|
NM_000245.4(MET):c.2943T>C (p.Asp981=)
|
rs45561544
|
|
NM_000245.4(MET):c.294T>C (p.Cys98=)
|
rs2116585117
|
|
NM_000245.4(MET):c.2964T>C (p.Ser988=)
|
rs1554398401
|
|
NM_000245.4(MET):c.2970C>T (p.Ser990=)
|
rs544081614
|
|
NM_000245.4(MET):c.3000T>C (p.Ser1000=)
|
|
|
NM_000245.4(MET):c.3003A>T (p.Val1001=)
|
|
|
NM_000245.4(MET):c.3006C>T (p.Asp1002=)
|
rs2116997464
|
|
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.3018T>G (p.Thr1006=)
|
|
|
NM_000245.4(MET):c.3028+10A>C
|
rs763648816
|
|
NM_000245.4(MET):c.3028+10A>G
|
rs763648816
|
|
NM_000245.4(MET):c.3028+11G>A
|
rs369191825
|
|
NM_000245.4(MET):c.3028+15A>G
|
|
|
NM_000245.4(MET):c.3028+16T>C
|
rs749086707
|
|
NM_000245.4(MET):c.3028+17T>G
|
|
|
NM_000245.4(MET):c.3029-15T>C
|
|
|
NM_000245.4(MET):c.3029-16T>C
|
rs2117029242
|
|
NM_000245.4(MET):c.3029-18T>C
|
rs1794944566
|
|
NM_000245.4(MET):c.3029-5T>C
|
rs2117029329
|
|
NM_000245.4(MET):c.303C>T (p.Cys101=)
|
|
|
NM_000245.4(MET):c.3043T>G (p.Ser1015Ala)
|
rs539345989
|
|
NM_000245.4(MET):c.3045A>G (p.Ser1015=)
|
|
|
NM_000245.4(MET):c.3048T>G (p.Ser1016=)
|
|
|
NM_000245.4(MET):c.3051G>A (p.Gln1017=)
|
|
|
NM_000245.4(MET):c.3060A>C (p.Ser1020=)
|
rs2117029833
|
|
NM_000245.4(MET):c.3060A>T (p.Ser1020=)
|
|
|
NM_000245.4(MET):c.3075G>A (p.Gln1025=)
|
|
|
NM_000245.4(MET):c.3087A>G (p.Thr1029=)
|
|
|
NM_000245.4(MET):c.3090C>T (p.Asp1030=)
|
rs766136369
|
|
NM_000245.4(MET):c.3099C>T (p.Pro1033=)
|
rs754909964
|
|
NM_000245.4(MET):c.309C>T (p.Ser103=)
|
|
|
NM_000245.4(MET):c.30C>T (p.Gly10=)
|
|
|
NM_000245.4(MET):c.3102C>A (p.Ile1034=)
|
|
|
NM_000245.4(MET):c.3117C>T (p.Asp1039=)
|
|
|
NM_000245.4(MET):c.3135A>G (p.Pro1045=)
|
rs1584957836
|
|
NM_000245.4(MET):c.3138A>G (p.Leu1046=)
|
|
|
NM_000245.4(MET):c.3150T>A (p.Thr1050=)
|
|
|
NM_000245.4(MET):c.3150T>C (p.Thr1050=)
|
|
|
NM_000245.4(MET):c.3162C>T (p.Asp1054=)
|
rs1166344170
|
|
NM_000245.4(MET):c.3183G>A (p.Glu1061=)
|
rs1554398889
|
|
NM_000245.4(MET):c.3184C>T (p.Leu1062=)
|
|
|
NM_000245.4(MET):c.3186G>A (p.Leu1062=)
|
rs1584957891
|
|
NM_000245.4(MET):c.318T>C (p.Asn106=)
|
|
|
NM_000245.4(MET):c.3192G>A (p.Gln1064=)
|
|
|
NM_000245.4(MET):c.3198G>A (p.Val1066=)
|
rs1162352573
|
|
NM_000245.4(MET):c.3201G>A (p.Gln1067=)
|
rs1447318689
|
|
NM_000245.4(MET):c.3216G>T (p.Gly1072=)
|
rs2117031874
|
|
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.3222T>C (p.Ser1074=)
|
rs2117031958
|
|
NM_000245.4(MET):c.3234G>A (p.Val1078=)
|
|
|
NM_000245.4(MET):c.3240C>T (p.Phe1080=)
|
|
|
NM_000245.4(MET):c.324A>G (p.Ser108=)
|
|
|
NM_000245.4(MET):c.3259+10T>C
|
rs2117032551
|
|
NM_000245.4(MET):c.3259+9T>C
|
rs1794955980
|
|
NM_000245.4(MET):c.3260-11C>A
|
rs1795027494
|
|
NM_000245.4(MET):c.3260-12del
|
|
|
NM_000245.4(MET):c.3260-24_3260-14del
|
rs760284924
|
|
NM_000245.4(MET):c.3260-4A>C
|
rs864622521
|
|
NM_000245.4(MET):c.3279T>C (p.Tyr1093=)
|
|
|
NM_000245.4(MET):c.3294G>A (p.Leu1098=)
|
rs2117039979
|
|
NM_000245.4(MET):c.3300T>C (p.Asn1100=)
|
rs1554399341
|
|
NM_000245.4(MET):c.3303T>C (p.Asp1101=)
|
|
|
NM_000245.4(MET):c.3306C>A (p.Gly1102=)
|
rs2117040150
|
|
NM_000245.4(MET):c.3309G>A (p.Lys1103=)
|
rs2117040173
|
|
NM_000245.4(MET):c.330T>C (p.Gly110=)
|
|
|
NM_000245.4(MET):c.3312A>G (p.Lys1104=)
|
rs1584959967
|
|
NM_000245.4(MET):c.3321T>C (p.Cys1107=)
|
rs1584959989
|
|
NM_000245.4(MET):c.3324T>C (p.Ala1108=)
|
|
|
NM_000245.4(MET):c.3327G>A (p.Val1109=)
|
rs2117040350
|
|
NM_000245.4(MET):c.3336G>A (p.Leu1112=)
|
rs1488332998
|
|
NM_000245.4(MET):c.3339C>T (p.Asn1113=)
|
rs1214629015
|
|
NM_000245.4(MET):c.3340+13T>G
|
|
|
NM_000245.4(MET):c.3340+15A>G
|
|
|
NM_000245.4(MET):c.3340+16T>G
|
|
|
NM_000245.4(MET):c.3340+7G>A
|
rs2117040526
|
|
NM_000245.4(MET):c.3340+8G>A
|
rs541156628
|
|
NM_000245.4(MET):c.3341-10G>A
|
rs1281663962
|
|
NM_000245.4(MET):c.3341-10G>T
|
rs1281663962
|
|
NM_000245.4(MET):c.3341-14A>C
|
|
|
NM_000245.4(MET):c.3341-15C>G
|
|
|
NM_000245.4(MET):c.3341-18C>T
|
rs959432467
|
|
NM_000245.4(MET):c.3341-19C>G
|
|
|
NM_000245.4(MET):c.3345C>T (p.Ile1115=)
|
rs1554399534
|
|
NM_000245.4(MET):c.3348T>G (p.Thr1116=)
|
rs2117044816
|
|
NM_000245.4(MET):c.3354A>C (p.Ile1118=)
|
|
|
NM_000245.4(MET):c.3369A>G (p.Gln1123=)
|
|
|
NM_000245.4(MET):c.3372T>C (p.Phe1124=)
|
rs2117045349
|
|
NM_000245.4(MET):c.3384A>G (p.Gly1128=)
|
|
|
NM_000245.4(MET):c.3387C>T (p.Ile1129=)
|
|
|
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.3408T>C (p.His1136=)
|
rs202110450
|
|
NM_000245.4(MET):c.3411C>T (p.Pro1137=)
|
|
|
NM_000245.4(MET):c.3414T>C (p.Asn1138=)
|
rs769474791
|
|
NM_000245.4(MET):c.3417C>G (p.Val1139=)
|
rs2117046480
|
|
NM_000245.4(MET):c.3420C>T (p.Leu1140=)
|
|
|
NM_000245.4(MET):c.3432A>G (p.Gly1144=)
|
|
|
NM_000245.4(MET):c.3439C>T (p.Leu1147=)
|
rs1795070786
|
|
NM_000245.4(MET):c.3441G>C (p.Leu1147=)
|
rs200456335
|
|
NM_000245.4(MET):c.3453G>T (p.Gly1151=)
|
|
|
NM_000245.4(MET):c.3459G>T (p.Pro1153=)
|
|
|
NM_000245.4(MET):c.3462G>C (p.Leu1154=)
|
|
|
NM_000245.4(MET):c.3468C>T (p.Val1156=)
|
rs2117047472
|
|
NM_000245.4(MET):c.3471A>C (p.Leu1157=)
|
|
|
NM_000245.4(MET):c.3486T>C (p.His1162=)
|
rs765565377
|
|
NM_000245.4(MET):c.3501T>C (p.Asn1167=)
|
|
|
NM_000245.4(MET):c.3504C>T (p.Phe1168=)
|
rs2117048132
|
|
NM_000245.4(MET):c.3508C>A (p.Arg1170=)
|
rs200754673
|
|
NM_000245.4(MET):c.3516G>A (p.Glu1172=)
|
|
|
NM_000245.4(MET):c.3522+10C>T
|
|
|
NM_000245.4(MET):c.3522+11T>C
|
rs201726372
|
|
NM_000245.4(MET):c.3522+14C>G
|
|
|
NM_000245.4(MET):c.3522+18C>T
|
|
|
NM_000245.4(MET):c.3522+19T>C
|
|
|
NM_000245.4(MET):c.3522+8G>A
|
|
|
NM_000245.4(MET):c.3522+8G>C
|
|
|
NM_000245.4(MET):c.3522+9A>G
|
|
|
NM_000245.4(MET):c.3523-10T>C
|
rs2117059286
|
|
NM_000245.4(MET):c.3523-12C>T
|
|
|
NM_000245.4(MET):c.3523-14C>T
|
|
|
NM_000245.4(MET):c.3523-16CT[2]
|
|
|
NM_000245.4(MET):c.3523-19T>C
|
|
|
NM_000245.4(MET):c.3523-4G>A
|
|
|
NM_000245.4(MET):c.3523-6C>T
|
rs1554400069
|
|
NM_000245.4(MET):c.3531T>G (p.Thr1177=)
|
rs1584964218
|
|
NM_000245.4(MET):c.3534A>T (p.Val1178=)
|
rs544545520
|
|
NM_000245.4(MET):c.3552T>C (p.Phe1184=)
|
rs765771575
|
|
NM_000245.4(MET):c.3555T>C (p.Gly1185=)
|
rs2117059754
|
|
NM_000245.4(MET):c.3582T>C (p.Tyr1194=)
|
rs1584964312
|
|
NM_000245.4(MET):c.3588A>G (p.Ala1196=)
|
|
|
NM_000245.4(MET):c.3603C>A (p.Val1201=)
|
rs1484737027
|
|
NM_000245.4(MET):c.360A>G (p.Leu120=)
|
|
|
NM_000245.4(MET):c.3621A>G (p.Ala1207=)
|
rs747811080
|
|
NM_000245.4(MET):c.3632+10A>C
|
|
|
NM_000245.4(MET):c.3632+17C>G
|
rs758230781
|
|
NM_000245.4(MET):c.3632+17C>T
|
rs758230781
|
|
NM_000245.4(MET):c.3632+20T>A
|
rs2117060902
|
|
NM_000245.4(MET):c.3632+7A>C
|
rs1795175584
|
|
NM_000245.4(MET):c.3632+9C>G
|
rs1584964366
|
|
NM_000245.4(MET):c.3633-11C>A
|
|
|
NM_000245.4(MET):c.3633-13G>A
|
|
|
NM_000245.4(MET):c.3633-18T>C
|
|
|
NM_000245.4(MET):c.3633-4G>A
|
rs1477354447
|
|
NM_000245.4(MET):c.3636G>T (p.Leu1212=)
|
|
|
NM_000245.4(MET):c.3651A>C (p.Thr1217=)
|
|
|
NM_000245.4(MET):c.3651A>G (p.Thr1217=)
|
|
|
NM_000245.4(MET):c.3678C>T (p.Ala1226=)
|
rs1584965488
|
|
NM_000245.4(MET):c.3690T>C (p.Tyr1230=)
|
rs1584965524
|
|
NM_000245.4(MET):c.369C>T (p.Asp123=)
|
rs1417054613
|
|
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.372C>G (p.Thr124=)
|
rs574911056
|
|
NM_000245.4(MET):c.372C>T (p.Thr124=)
|
|
|
NM_000245.4(MET):c.3741G>C (p.Val1247=)
|
rs1584965646
|
|
NM_000245.4(MET):c.3744G>A (p.Lys1248=)
|
rs2117066950
|
|
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.3783C>G (p.Thr1261=)
|
|
|
NM_000245.4(MET):c.3789G>A (p.Lys1263=)
|
|
|
NM_000245.4(MET):c.378T>C (p.Tyr126=)
|
rs2116587316
|
|
NM_000245.4(MET):c.3795T>C (p.Asp1265=)
|
rs2117067697
|
|
NM_000245.4(MET):c.3798+11G>A
|
|
|
NM_000245.4(MET):c.3798+12G>A
|
|
|
NM_000245.4(MET):c.3798+12G>C
|
rs1001362196
|
|
NM_000245.4(MET):c.3798+15A>T
|
rs769814035
|
|
NM_000245.4(MET):c.3798+9T>C
|
|
|
NM_000245.4(MET):c.3799-11del
|
|
|
NM_000245.4(MET):c.3799-12T>C
|
|
|
NM_000245.4(MET):c.3799-15T>G
|
rs1297603367
|
|
NM_000245.4(MET):c.3799-17G>A
|
|
|
NM_000245.4(MET):c.3799-17G>C
|
|
|
NM_000245.4(MET):c.3799-18del
|
|
|
NM_000245.4(MET):c.3799-19C>G
|
|
|
NM_000245.4(MET):c.3799-19C>T
|
|
|
NM_000245.4(MET):c.3799-4C>T
|
rs2117107162
|
|
NM_000245.4(MET):c.3799-8T>C
|
|
|
NM_000245.4(MET):c.3807T>C (p.Phe1269=)
|
rs1554402156
|
|
NM_000245.4(MET):c.3810C>G (p.Gly1270=)
|
rs200865810
|
|
NM_000245.4(MET):c.3816C>A (p.Leu1272=)
|
rs757012119
|
|
NM_000245.4(MET):c.3816C>T (p.Leu1272=)
|
|
|
NM_000245.4(MET):c.3819C>G (p.Leu1273=)
|
|
|
NM_000245.4(MET):c.3819C>T (p.Leu1273=)
|
|
|
NM_000245.4(MET):c.3828G>A (p.Leu1276=)
|
|
|
NM_000245.4(MET):c.3834A>C (p.Thr1278=)
|
rs1584977880
|
|
NM_000245.4(MET):c.3837A>G (p.Arg1279=)
|
|
|
NM_000245.4(MET):c.3846A>T (p.Pro1282=)
|
|
|
NM_000245.4(MET):c.3855T>C (p.Pro1285=)
|
rs1584977903
|
|
NM_000245.4(MET):c.3861A>G (p.Val1287=)
|
rs749438942
|
|
NM_000245.4(MET):c.3867C>T (p.Thr1289=)
|
rs587780532
|
|
NM_000245.4(MET):c.3870T>C (p.Phe1290=)
|
rs926365001
|
|
NM_000245.4(MET):c.387A>G (p.Gln129=)
|
rs1791478119
|
|
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.3891G>A (p.Leu1297=)
|
rs1584977997
|
|
NM_000245.4(MET):c.3906C>T (p.Leu1302=)
|
rs1584978021
|
|
NM_000245.4(MET):c.3912A>G (p.Gln1304=)
|
|
|
NM_000245.4(MET):c.3915C>T (p.Pro1305=)
|
rs555099334
|
|
NM_000245.4(MET):c.3921C>T (p.Tyr1307=)
|
rs2117109060
|
|
NM_000245.4(MET):c.3930C>T (p.Asp1310=)
|
rs773763852
|
|
NM_000245.4(MET):c.3933C>A (p.Pro1311=)
|
|
|
NM_000245.4(MET):c.3935+14C>G
|
rs1215580408
|
|
NM_000245.4(MET):c.3935+18A>T
|
|
|
NM_000245.4(MET):c.3935+20C>G
|
|
|
NM_000245.4(MET):c.3935+7_3935+8insCCT
|
|
|
NM_000245.4(MET):c.3935+8G>A
|
rs2117109392
|
|
NM_000245.4(MET):c.3936-11T>G
|
|
|
NM_000245.4(MET):c.3936-13C>G
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000245.4(MET):c.3936-17C>G
|
rs2117110177
|
|
NM_000245.4(MET):c.3936-18T>C
|
|
|
NM_000245.4(MET):c.3936-20T>A
|
rs2117110129
|
|
NM_000245.4(MET):c.3936-8T>G
|
rs1274027255
|
|
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.3963C>T (p.His1321=)
|
|
|
NM_000245.4(MET):c.3972C>G (p.Ala1324=)
|
|
|
NM_000245.4(MET):c.3981C>A (p.Arg1327=)
|
|
|
NM_000245.4(MET):c.3984A>G (p.Pro1328=)
|
|
|
NM_000245.4(MET):c.3987C>T (p.Ser1329=)
|
rs2117111166
|
|
NM_000245.4(MET):c.3993T>C (p.Ser1331=)
|
rs2117111260
|
|
NM_000245.4(MET):c.3999G>A (p.Leu1333=)
|
|
|
NM_000245.4(MET):c.4002G>T (p.Val1334=)
|
rs1214651018
|
|
NM_000245.4(MET):c.4008G>T (p.Arg1336=)
|
rs373857586
|
|
NM_000245.4(MET):c.4017G>C (p.Ala1339=)
|
rs2023748
|
|
NM_000245.4(MET):c.4023C>T (p.Phe1341=)
|
rs2117111707
|
|
NM_000245.4(MET):c.4032C>T (p.Phe1344=)
|
|
|
NM_000245.4(MET):c.4035T>C (p.Ile1345=)
|
|
|
NM_000245.4(MET):c.4044C>T (p.His1348=)
|
rs1386889641
|
|
NM_000245.4(MET):c.4047T>C (p.Tyr1349=)
|
|
|
NM_000245.4(MET):c.4050C>T (p.Val1350=)
|
|
|
NM_000245.4(MET):c.4056G>C (p.Val1352=)
|
|
|
NM_000245.4(MET):c.4059C>T (p.Asn1353=)
|
rs45571634
|
|
NM_000245.4(MET):c.4077A>G (p.Val1359=)
|
|
|
NM_000245.4(MET):c.4080A>G (p.Lys1360=)
|
|
|
NM_000245.4(MET):c.4086C>G (p.Val1362=)
|
rs753757242
|
|
NM_000245.4(MET):c.4098T>G (p.Pro1366=)
|
rs1645508828
|
|
NM_000245.4(MET):c.4104G>A (p.Leu1368=)
|
rs1795663226
|
|
NM_000245.4(MET):c.4107G>A (p.Leu1369=)
|
rs1795663624
|
|
NM_000245.4(MET):c.4110A>C (p.Ser1370=)
|
|
|
NM_000245.4(MET):c.4110A>G (p.Ser1370=)
|
rs1795663778
|
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
rs773898036
|
|
NM_000245.4(MET):c.4131T>C (p.Asp1377=)
|
|
|
NM_000245.4(MET):c.4144C>A (p.Arg1382=)
|
rs200315561
|
|
NM_000245.4(MET):c.4146A>G (p.Arg1382=)
|
|
|
NM_000245.4(MET):c.4167A>G (p.Thr1389=)
|
rs2117114225
|
|
NM_000245.4(MET):c.4170A>G (p.Ser1390=)
|
rs1584978746
|
|
NM_000245.4(MET):c.427C>A (p.Arg143=)
|
rs779093896
|
|
NM_000245.4(MET):c.42C>G (p.Leu14=)
|
rs2116578695
|
|
NM_000245.4(MET):c.43C>T (p.Leu15=)
|
rs2116578733
|
|
NM_000245.4(MET):c.450T>C (p.His150=)
|
rs2116589122
|
|
NM_000245.4(MET):c.453T>C (p.Thr151=)
|
|
|
NM_000245.4(MET):c.456T>C (p.Ala152=)
|
rs1584876842
|
|
NM_000245.4(MET):c.468G>C (p.Ser156=)
|
rs576502224
|
|
NM_000245.4(MET):c.471G>A (p.Glu157=)
|
rs1451799154
|
|
NM_000245.4(MET):c.474T>C (p.Val158=)
|
rs1584876891
|
|
NM_000245.4(MET):c.492A>G (p.Pro164=)
|
|
|
NM_000245.4(MET):c.501A>G (p.Glu167=)
|
|
|
NM_000245.4(MET):c.504G>A (p.Glu168=)
|
rs55985569
|
|
NM_000245.4(MET):c.519T>C (p.Pro173=)
|
rs2116590943
|
|
NM_000245.4(MET):c.51C>T (p.Thr17=)
|
rs1584875653
|
|
NM_000245.4(MET):c.522C>T (p.Asp174=)
|
|
|
NM_000245.4(MET):c.528G>A (p.Val176=)
|
|
|
NM_000245.4(MET):c.52T>C (p.Leu18=)
|
|
|
NM_000245.4(MET):c.531G>T (p.Val177=)
|
rs755804127
|
|
NM_000245.4(MET):c.537C>G (p.Ala179=)
|
|
|
NM_000245.4(MET):c.538C>T (p.Leu180=)
|
|
|
NM_000245.4(MET):c.540G>A (p.Leu180=)
|
rs1791488808
|
|
NM_000245.4(MET):c.558A>G (p.Ser186=)
|
|
|
NM_000245.4(MET):c.564A>T (p.Val188=)
|
rs1791489742
|
|
NM_000245.4(MET):c.567G>A (p.Lys189=)
|
rs879254341
|
|
NM_000245.4(MET):c.571C>A (p.Arg191=)
|
rs530932258
|
|
NM_000245.4(MET):c.571C>T (p.Arg191Trp)
|
rs530932258
|
|
NM_000245.4(MET):c.576C>T (p.Phe192=)
|
rs2116592376
|
|
NM_000245.4(MET):c.57G>A (p.Val19=)
|
rs1584875673
|
|
NM_000245.4(MET):c.594C>T (p.Gly198=)
|
rs549459978
|
|
NM_000245.4(MET):c.597T>C (p.Asn199=)
|
rs2116592884
|
|
NM_000245.4(MET):c.609T>A (p.Ser203=)
|
rs1269191859
|
|
NM_000245.4(MET):c.612T>C (p.Ser204=)
|
|
|
NM_000245.4(MET):c.615T>C (p.Tyr205=)
|
rs2116593354
|
|
NM_000245.4(MET):c.618C>T (p.Phe206=)
|
rs2116593426
|
|
NM_000245.4(MET):c.621A>G (p.Pro207=)
|
rs2116593527
|
|
NM_000245.4(MET):c.633G>A (p.Leu211=)
|
rs552870344
|
|
NM_000245.4(MET):c.639G>C (p.Ser213=)
|
|
|
NM_000245.4(MET):c.672T>C (p.Asp224=)
|
rs2116594941
|
|
NM_000245.4(MET):c.690G>T (p.Thr230=)
|
rs200138253
|
|
NM_000245.4(MET):c.69T>C (p.Asn23=)
|
|
|
NM_000245.4(MET):c.702C>T (p.Tyr234=)
|
rs2116595737
|
|
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.717T>C (p.Pro239=)
|
|
|
NM_000245.4(MET):c.717T>G (p.Pro239=)
|
|
|
NM_000245.4(MET):c.720G>A (p.Glu240=)
|
|
|
NM_000245.4(MET):c.723C>T (p.Phe241=)
|
|
|
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.738C>A (p.Pro246=)
|
rs1461455526
|
|
NM_000245.4(MET):c.750C>T (p.Val250=)
|
rs2116596869
|
|
NM_000245.4(MET):c.75G>A (p.Glu25=)
|
rs925600985
|
|
NM_000245.4(MET):c.762A>G (p.Glu254=)
|
rs760278126
|
|
NM_000245.4(MET):c.774T>C (p.Phe258=)
|
rs2116597528
|
|
NM_000245.4(MET):c.780C>T (p.Tyr260=)
|
rs2116597678
|
|
NM_000245.4(MET):c.789G>T (p.Thr263=)
|
rs554190225
|
|
NM_000245.4(MET):c.807A>G (p.Leu269=)
|
|
|
NM_000245.4(MET):c.813T>C (p.Ala271=)
|
rs750586651
|
|
NM_000245.4(MET):c.840G>A (p.Arg280=)
|
rs1207381066
|
|
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.858T>C (p.Ser286=)
|
rs1791505734
|
|
NM_000245.4(MET):c.861A>G (p.Gly287=)
|
|
|
NM_000245.4(MET):c.862T>C (p.Leu288=)
|
rs1584877825
|
|
NM_000245.4(MET):c.87A>G (p.Ala29=)
|
rs1584875753
|
|
NM_000245.4(MET):c.885T>G (p.Pro295=)
|
|
|
NM_000245.4(MET):c.888G>A (p.Leu296=)
|
rs1341728679
|
|
NM_000245.4(MET):c.894T>C (p.Cys298=)
|
|
|
NM_000245.4(MET):c.915A>G (p.Lys305=)
|
|
|
NM_000245.4(MET):c.921A>G (p.Arg307=)
|
rs2116601014
|
|
NM_000245.4(MET):c.924C>G (p.Ser308=)
|
rs1791507929
|
|
NM_000245.4(MET):c.927A>G (p.Thr309=)
|
|
|
NM_000245.4(MET):c.93A>G (p.Ala31=)
|
rs763196530
|
|
NM_000245.4(MET):c.945T>C (p.Asn315=)
|
rs1060504941
|
|
NM_000245.4(MET):c.954G>A (p.Gln318=)
|
|
|
NM_000245.4(MET):c.960G>C (p.Ala320=)
|
|
|
NM_000245.4(MET):c.96G>A (p.Lys32=)
|
rs2116580040
|
|
NM_000245.4(MET):c.978G>A (p.Gly326=)
|
rs769507421
|
|
NM_000245.4(MET):c.978G>C (p.Gly326=)
|
rs769507421
|
|
NM_000245.4(MET):c.984G>A (p.Gln328=)
|
rs2116602563
|
|
NM_000245.4(MET):c.987T>G (p.Leu329=)
|
rs921189227
|
|
NM_000245.4(MET):c.990T>C (p.Ala330=)
|
rs2116602743
|
|
NM_000245.4(MET):c.9C>T (p.Ala3=)
|
rs1797064273
|
|