NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
NM_000243.3(MEFV):c.1356+44A>G
|
rs224212
|
0.59650
|
NM_000243.3(MEFV):c.1530T>C (p.Asp510=)
|
rs224206
|
0.59561
|
NM_000243.3(MEFV):c.*474C>G
|
rs11466051
|
0.59239
|
NM_000243.3(MEFV):c.*1056G>T
|
rs450021
|
0.59227
|
NM_000243.3(MEFV):c.*475A>G
|
rs11466052
|
0.59188
|
NM_000243.3(MEFV):c.*267G>A
|
rs2741918
|
0.58813
|
NM_000243.3(MEFV):c.1764= (p.Pro588=)
|
rs1231122
|
0.58770
|
NM_000243.3(MEFV):c.*836_*837insACT
|
rs34895148
|
0.58327
|
NM_000243.3(MEFV):c.*245G>A
|
rs2741919
|
0.58215
|
NM_000243.3(MEFV):c.1428A>G (p.Gln476=)
|
rs224207
|
0.58038
|
NM_000243.3(MEFV):c.1422G>A (p.Glu474=)
|
rs224208
|
0.57768
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_000243.3(MEFV):c.1610+96C>T
|
rs224204
|
0.46165
|
NM_000243.3(MEFV):c.1588-69G>A
|
rs224205
|
0.46073
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
NM_000243.3(MEFV):c.1611-90C>T
|
rs1231124
|
0.41206
|
NM_000243.3(MEFV):c.1760-30T>A
|
rs1231123
|
0.39404
|
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)
|
rs224222
|
0.20976
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000243.3(MEFV):c.-614C>G
|
rs11466012
|
0.01850
|
NM_000243.3(MEFV):c.*133G>A
|
rs2075849
|
0.01591
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000243.2(MEFV):c.-330G>A
|
rs11466013
|
0.01286
|
NM_000243.3(MEFV):c.*845C>T
|
rs371608683
|
0.01225
|
NM_000243.3(MEFV):c.911-78T>C
|
rs11466021
|
0.01123
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_000243.3(MEFV):c.*639G>A
|
rs181380218
|
0.00614
|
NM_000243.3(MEFV):c.1260+92G>A
|
rs104895209
|
0.00590
|
NM_000243.3(MEFV):c.1760-97G>A
|
rs11466044
|
0.00589
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_000243.3(MEFV):c.*701G>A
|
rs368896227
|
0.00516
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
NM_000243.3(MEFV):c.1356+31G>T
|
rs142775938
|
0.00459
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_000243.3(MEFV):c.*74C>T
|
rs11466050
|
0.00365
|
NM_000243.3(MEFV):c.*1029G>C
|
rs142648477
|
0.00351
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000243.3(MEFV):c.-15C>G
|
rs11466015
|
0.00306
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NC_000016.10:g.3256969G>A
|
rs533772017
|
0.00192
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_000243.3(MEFV):c.1792+39G>A
|
rs104895176
|
0.00115
|
NM_000243.3(MEFV):c.911-12G>A
|
rs372016564
|
0.00092
|
NM_000243.3(MEFV):c.*1008A>G
|
rs1305464681
|
0.00090
|
NM_000243.3(MEFV):c.37C>G (p.Leu13Val)
|
rs139448379
|
0.00090
|
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)
|
rs145637617
|
0.00076
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
NM_000243.3(MEFV):c.*724G>A
|
rs886051968
|
0.00056
|
NM_000243.3(MEFV):c.*1002G>C
|
rs1316887692
|
0.00054
|
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)
|
rs139313647
|
0.00047
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
rs139899201
|
0.00029
|
NM_000243.3(MEFV):c.*403A>C
|
rs766365739
|
0.00026
|
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
rs144672997
|
0.00024
|
NM_000243.3(MEFV):c.1760-28T>A
|
rs104895169
|
0.00022
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
NM_000243.3(MEFV):c.*467_*469del
|
rs746257932
|
0.00018
|
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)
|
rs752973530
|
0.00018
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000243.3(MEFV):c.*679C>G
|
rs886051969
|
0.00014
|
NM_000243.3(MEFV):c.*981A>G
|
rs1354569506
|
0.00014
|
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
rs104895196
|
0.00014
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)
|
rs139692347
|
0.00014
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
NM_000243.3(MEFV):c.1458C>T (p.Asp486=)
|
rs147767925
|
0.00011
|
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
rs199937453
|
0.00011
|
NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile)
|
rs759769839
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000243.3(MEFV):c.972C>T (p.Asp324=)
|
rs140776637
|
0.00010
|
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu)
|
rs1348832741
|
0.00009
|
NM_000243.3(MEFV):c.198C>T (p.Ala66=)
|
rs149380763
|
0.00009
|
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)
|
rs374412819
|
0.00009
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
NM_000243.3(MEFV):c.*721T>A
|
rs1184351783
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)
|
rs387907566
|
0.00007
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)
|
rs104895185
|
0.00007
|
NM_000243.3(MEFV):c.663G>C (p.Pro221=)
|
rs104895162
|
0.00007
|
NM_000243.3(MEFV):c.*280G>C
|
rs562541179
|
0.00006
|
NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys)
|
rs896909303
|
0.00006
|
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
rs141288548
|
0.00006
|
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)
|
rs140462252
|
0.00006
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
NM_000243.3(MEFV):c.1674A>G (p.Gln558=)
|
rs747471997
|
0.00006
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
NM_000243.3(MEFV):c.1793-16C>G
|
rs747964292
|
0.00006
|
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
rs376579860
|
0.00006
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)
|
rs747515115
|
0.00006
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu)
|
rs755178462
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000243.3(MEFV):c.*579C>A
|
rs1026430345
|
0.00005
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
NM_000243.3(MEFV):c.96T>C (p.Ser32=)
|
rs761135823
|
0.00005
|
NM_000243.3(MEFV):c.*21C>G
|
rs104895200
|
0.00004
|
NM_000243.3(MEFV):c.*695C>G
|
rs1596349291
|
0.00004
|
NM_000243.3(MEFV):c.*761del
|
rs886051967
|
0.00004
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
NM_000243.3(MEFV):c.1130G>A (p.Arg377His)
|
rs144998416
|
0.00004
|
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)
|
rs749651486
|
0.00004
|
NM_000243.3(MEFV):c.150G>A (p.Pro50=)
|
rs376952748
|
0.00004
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
NM_000243.3(MEFV):c.1587+7G>A
|
rs375555497
|
0.00004
|
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)
|
rs104895161
|
0.00004
|
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
rs375716505
|
0.00004
|
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)
|
rs768473920
|
0.00004
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)
|
rs748891586
|
0.00004
|
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)
|
rs202174893
|
0.00004
|
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
rs138498376
|
0.00004
|
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)
|
rs151306047
|
0.00004
|
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln)
|
rs759918824
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
rs775663363
|
0.00004
|
NM_000243.3(MEFV):c.759G>A (p.Ala253=)
|
rs936508032
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
NM_000243.3(MEFV):c.948C>T (p.His316=)
|
rs150252937
|
0.00004
|
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)
|
rs146862274
|
0.00004
|
NM_000243.3(MEFV):c.*1096A>T
|
rs950693142
|
0.00003
|
NM_000243.3(MEFV):c.*797T>C
|
rs552125584
|
0.00003
|
NM_000243.3(MEFV):c.*862A>C
|
rs914879585
|
0.00003
|
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)
|
rs377754606
|
0.00003
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)
|
rs779558690
|
0.00003
|
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
rs771061550
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000243.3(MEFV):c.1779T>A (p.Ala593=)
|
rs377657099
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000243.3(MEFV):c.1886dup (p.Pro630fs)
|
rs876660997
|
0.00003
|
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu)
|
rs104895107
|
0.00003
|
NM_000243.3(MEFV):c.1938G>A (p.Pro646=)
|
rs104895160
|
0.00003
|
NM_000243.3(MEFV):c.1944C>T (p.Phe648=)
|
rs781411214
|
0.00003
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
rs104895096
|
0.00003
|
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)
|
rs758628487
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000243.3(MEFV):c.2229C>T (p.Phe743=)
|
rs104895152
|
0.00003
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)
|
rs797001768
|
0.00003
|
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)
|
rs759997694
|
0.00003
|
NM_000243.3(MEFV):c.513G>T (p.Ala171=)
|
rs745622682
|
0.00003
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)
|
rs745839954
|
0.00003
|
NM_000243.3(MEFV):c.64G>A (p.Glu22Lys)
|
rs145289162
|
0.00003
|
NM_000243.3(MEFV):c.833G>A (p.Arg278Gln)
|
rs104895187
|
0.00003
|
NM_000243.3(MEFV):c.99G>A (p.Val33=)
|
rs767848974
|
0.00003
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
0.00002
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
rs104895170
|
0.00002
|
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)
|
rs1057519328
|
0.00002
|
NM_000243.3(MEFV):c.1119A>G (p.Pro373=)
|
rs1256271984
|
0.00002
|
NM_000243.3(MEFV):c.1229G>A (p.Arg410His)
|
rs1399033974
|
0.00002
|
NM_000243.3(MEFV):c.1261-4C>A
|
rs759448762
|
0.00002
|
NM_000243.3(MEFV):c.1407G>A (p.Val469=)
|
rs757268432
|
0.00002
|
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)
|
rs762605919
|
0.00002
|
NM_000243.3(MEFV):c.1759+12G>A
|
rs749730274
|
0.00002
|
NM_000243.3(MEFV):c.1760-5C>T
|
rs1319612887
|
0.00002
|
NM_000243.3(MEFV):c.1782G>A (p.Gln594=)
|
rs144122901
|
0.00002
|
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr)
|
rs369069000
|
0.00002
|
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)
|
rs1028273722
|
0.00002
|
NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly)
|
rs138462251
|
0.00002
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
NM_000243.3(MEFV):c.1911C>T (p.Asp637=)
|
rs746646325
|
0.00002
|
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
rs547393490
|
0.00002
|
NM_000243.3(MEFV):c.199G>A (p.Val67Met)
|
rs1422054832
|
0.00002
|
NM_000243.3(MEFV):c.2055G>A (p.Glu685=)
|
rs375378545
|
0.00002
|
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
|
rs104895095
|
0.00002
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
0.00002
|
NM_000243.3(MEFV):c.224G>A (p.Arg75Gln)
|
rs376891162
|
0.00002
|
NM_000243.3(MEFV):c.238C>T (p.Arg80Cys)
|
rs766608226
|
0.00002
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000243.3(MEFV):c.277+20C>T
|
rs974303326
|
0.00002
|
NM_000243.3(MEFV):c.277+7G>A
|
rs1225720996
|
0.00002
|
NM_000243.3(MEFV):c.278-15T>C
|
rs774149669
|
0.00002
|
NM_000243.3(MEFV):c.318G>A (p.Ala106=)
|
rs777765016
|
0.00002
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)
|
rs773320625
|
0.00002
|
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)
|
rs769605806
|
0.00002
|
NM_000243.3(MEFV):c.745A>G (p.Thr249Ala)
|
rs764952529
|
0.00002
|
NM_000243.3(MEFV):c.840G>A (p.Arg280=)
|
rs748624682
|
0.00002
|
NM_000243.3(MEFV):c.927G>A (p.Thr309=)
|
rs145872265
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000243.3(MEFV):c.*1080A>G
|
rs568129540
|
0.00001
|
NM_000243.3(MEFV):c.*12T>C
|
rs104895183
|
0.00001
|
NM_000243.3(MEFV):c.*19C>T
|
rs761376734
|
0.00001
|
NM_000243.3(MEFV):c.*543C>T
|
rs886051970
|
0.00001
|
NM_000243.3(MEFV):c.*690G>T
|
rs1308863589
|
0.00001
|
NM_000243.3(MEFV):c.101A>C (p.Gln34Pro)
|
rs1959117792
|
0.00001
|
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)
|
rs774397209
|
0.00001
|
NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser)
|
rs756751963
|
0.00001
|
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)
|
rs104895164
|
0.00001
|
NM_000243.3(MEFV):c.1059C>T (p.Pro353=)
|
rs988793460
|
0.00001
|
NM_000243.3(MEFV):c.1062G>C (p.Arg354=)
|
rs1431507330
|
0.00001
|
NM_000243.3(MEFV):c.108G>A (p.Glu36=)
|
rs759877779
|
0.00001
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
NM_000243.3(MEFV):c.1188C>T (p.Leu396=)
|
rs748967789
|
0.00001
|
NM_000243.3(MEFV):c.120C>T (p.Ile40=)
|
rs1454105754
|
0.00001
|
NM_000243.3(MEFV):c.1211A>G (p.His404Arg)
|
rs755659290
|
0.00001
|
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)
|
rs758868622
|
0.00001
|
NM_000243.3(MEFV):c.1260+18G>C
|
rs104895136
|
0.00001
|
NM_000243.3(MEFV):c.1261-13G>A
|
rs778114467
|
0.00001
|
NM_000243.3(MEFV):c.1261-14T>C
|
rs754322350
|
0.00001
|
NM_000243.3(MEFV):c.1356+11A>C
|
rs548648384
|
0.00001
|
NM_000243.3(MEFV):c.1371G>A (p.Ala457=)
|
rs761470030
|
0.00001
|
NM_000243.3(MEFV):c.1386G>A (p.Val462=)
|
rs768816084
|
0.00001
|
NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys)
|
rs758485822
|
0.00001
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)
|
rs104895104
|
0.00001
|
NM_000243.3(MEFV):c.1446C>G (p.Ala482=)
|
rs776820718
|
0.00001
|
NM_000243.3(MEFV):c.1450C>A (p.Leu484Met)
|
rs760827469
|
0.00001
|
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)
|
rs958054431
|
0.00001
|
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)
|
rs1012455878
|
0.00001
|
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)
|
rs144716190
|
0.00001
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val)
|
rs769888172
|
0.00001
|
NM_000243.3(MEFV):c.1577A>G (p.Glu526Gly)
|
rs772349671
|
0.00001
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
NM_000243.3(MEFV):c.1650T>G (p.Pro550=)
|
rs1958910774
|
0.00001
|
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)
|
rs952604863
|
0.00001
|
NM_000243.3(MEFV):c.1727-16C>G
|
rs369343700
|
0.00001
|
NM_000243.3(MEFV):c.1727-7A>G
|
rs751312074
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.174C>A (p.Val58=)
|
rs1217681506
|
0.00001
|
NM_000243.3(MEFV):c.1760-87T>A
|
rs1958901256
|
0.00001
|
NM_000243.3(MEFV):c.1761T>C (p.Val587=)
|
rs1433601189
|
0.00001
|
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)
|
rs780770024
|
0.00001
|
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val)
|
rs104895191
|
0.00001
|
NM_000243.3(MEFV):c.1836C>T (p.Ile612=)
|
rs1379396776
|
0.00001
|
NM_000243.3(MEFV):c.1854G>A (p.Lys618=)
|
rs766576175
|
0.00001
|
NM_000243.3(MEFV):c.186G>A (p.Gly62=)
|
rs567615955
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr)
|
rs1958893897
|
0.00001
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr)
|
rs1439074921
|
0.00001
|
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu)
|
rs1432156641
|
0.00001
|
NM_000243.3(MEFV):c.2031A>G (p.Lys677=)
|
rs1280040143
|
0.00001
|
NM_000243.3(MEFV):c.2045dup (p.Ser683fs)
|
rs1242998026
|
0.00001
|
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu)
|
rs534682649
|
0.00001
|
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)
|
rs566082564
|
0.00001
|
NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu)
|
rs1487302096
|
0.00001
|
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)
|
rs749052818
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2166G>A (p.Val722=)
|
rs762351424
|
0.00001
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
NM_000243.3(MEFV):c.2202G>A (p.Val734=)
|
rs956722067
|
0.00001
|
NM_000243.3(MEFV):c.2205A>G (p.Thr735=)
|
rs375450800
|
0.00001
|
NM_000243.3(MEFV):c.2214C>T (p.Ser738=)
|
rs1372111494
|
0.00001
|
NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu)
|
rs876661026
|
0.00001
|
NM_000243.3(MEFV):c.2259A>G (p.Gln753=)
|
rs104895174
|
0.00001
|
NM_000243.3(MEFV):c.2265C>T (p.Ile755=)
|
rs776137465
|
0.00001
|
NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly)
|
rs748264438
|
0.00001
|
NM_000243.3(MEFV):c.2310G>A (p.Leu770=)
|
rs1488237213
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs)
|
rs753946287
|
0.00001
|
NM_000243.3(MEFV):c.2336G>T (p.Gly779Val)
|
rs1459541096
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
rs145015653
|
0.00001
|
NM_000243.3(MEFV):c.240C>T (p.Arg80=)
|
rs750467804
|
0.00001
|
NM_000243.3(MEFV):c.241C>T (p.Leu81=)
|
rs1159691741
|
0.00001
|
NM_000243.3(MEFV):c.249C>T (p.Ala83=)
|
rs141422964
|
0.00001
|
NM_000243.3(MEFV):c.277+11C>G
|
rs543272545
|
0.00001
|
NM_000243.3(MEFV):c.278-12T>C
|
rs1018265024
|
0.00001
|
NM_000243.3(MEFV):c.301A>G (p.Thr101Ala)
|
rs1342717419
|
0.00001
|
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
|
rs553819712
|
0.00001
|
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)
|
rs756029520
|
0.00001
|
NM_000243.3(MEFV):c.328C>T (p.Leu110=)
|
rs767274498
|
0.00001
|
NM_000243.3(MEFV):c.32C>G (p.Ser11Cys)
|
rs149693562
|
0.00001
|
NM_000243.3(MEFV):c.357G>A (p.Lys119=)
|
rs1000657059
|
0.00001
|
NM_000243.3(MEFV):c.377G>T (p.Gly126Val)
|
rs1390689550
|
0.00001
|
NM_000243.3(MEFV):c.401C>T (p.Pro134Leu)
|
rs377250147
|
0.00001
|
NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn)
|
rs145078602
|
0.00001
|
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)
|
rs766323718
|
0.00001
|
NM_000243.3(MEFV):c.411C>T (p.Gly137=)
|
rs1266277814
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
rs1465332482
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg)
|
rs1959088372
|
0.00001
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)
|
rs1306636942
|
0.00001
|
NM_000243.3(MEFV):c.510C>T (p.Asp170=)
|
rs1234279922
|
0.00001
|
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)
|
rs104895211
|
0.00001
|
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)
|
rs777199024
|
0.00001
|
NM_000243.3(MEFV):c.524C>A (p.Pro175His)
|
rs104895126
|
0.00001
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
NM_000243.3(MEFV):c.552C>T (p.Gly184=)
|
rs1488496414
|
0.00001
|
NM_000243.3(MEFV):c.553G>A (p.Gly185Arg)
|
rs1266566289
|
0.00001
|
NM_000243.3(MEFV):c.561C>T (p.Ser187=)
|
rs910638883
|
0.00001
|
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)
|
rs923516953
|
0.00001
|
NM_000243.3(MEFV):c.575G>C (p.Arg192Thr)
|
rs1390723147
|
0.00001
|
NM_000243.3(MEFV):c.588G>A (p.Gly196=)
|
rs750968749
|
0.00001
|
NM_000243.3(MEFV):c.588G>C (p.Gly196=)
|
rs750968749
|
0.00001
|
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)
|
rs765450054
|
0.00001
|
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)
|
rs1959084389
|
0.00001
|
NM_000243.3(MEFV):c.612C>T (p.Arg204=)
|
rs1006819766
|
0.00001
|
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
rs886051971
|
0.00001
|
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
rs569040282
|
0.00001
|
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp)
|
rs104895181
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)
|
rs754679070
|
0.00001
|
NM_000243.3(MEFV):c.704C>T (p.Ser235Leu)
|
rs757793348
|
0.00001
|
NM_000243.3(MEFV):c.726C>T (p.Ser242=)
|
rs104895127
|
0.00001
|
NM_000243.3(MEFV):c.744T>C (p.Ser248=)
|
rs750362154
|
0.00001
|
NM_000243.3(MEFV):c.747A>G (p.Thr249=)
|
rs369527857
|
0.00001
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
NM_000243.3(MEFV):c.789A>G (p.Leu263=)
|
rs933330251
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000243.3(MEFV):c.807G>C (p.Ala269=)
|
rs972290943
|
0.00001
|
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)
|
rs753623518
|
0.00001
|
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)
|
rs775020273
|
0.00001
|
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)
|
rs1437746739
|
0.00001
|
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
rs104895119
|
0.00001
|
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
rs387907567
|
0.00001
|
NM_000243.3(MEFV):c.910+20A>G
|
rs1389451136
|
0.00001
|
NM_000243.3(MEFV):c.922G>T (p.Asp308Tyr)
|
rs368322244
|
0.00001
|
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)
|
rs757216434
|
0.00001
|
NM_000243.3(MEFV):c.995G>A (p.Cys332Tyr)
|
rs1379609898
|
0.00001
|
NC_000016.10:g.(?_3243121)_(3257201_?)dup
|
|
|
NC_000016.10:g.3256984G>C
|
|
|
NC_000016.9:g.(?_3293141)_(3294608_?)del
|
|
|
NC_000016.9:g.(?_3293141)_(3297266_?)del
|
|
|
NC_000016.9:g.(?_3304138)_(3306587_?)del
|
|
|
NC_000016.9:g.(?_3306291)_(3306587_?)dup
|
|
|
NM_000243.2(MEFV):c.[1437C>G;501G>C]
|
|
|
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
|
|
|
NM_000243.3(MEFV):c.*169C>T
|
rs558576646
|
|
NM_000243.3(MEFV):c.*190G>C
|
rs114930858
|
|
NM_000243.3(MEFV):c.*292C>G
|
rs560496227
|
|
NM_000243.3(MEFV):c.*394C>T
|
rs1017341912
|
|
NM_000243.3(MEFV):c.*466_*468del
|
rs61379197
|
|
NM_000243.3(MEFV):c.*743T>C
|
rs170387
|
|
NM_000243.3(MEFV):c.*761C>G
|
rs281865551
|
|
NM_000243.3(MEFV):c.*779del
|
rs60407399
|
|
NM_000243.3(MEFV):c.*818A>C
|
rs886051965
|
|
NM_000243.3(MEFV):c.*959T>C
|
rs896051894
|
|
NM_000243.3(MEFV):c.-12C>G
|
rs104895148
|
|
NM_000243.3(MEFV):c.1004C>A (p.Pro335His)
|
|
|
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
rs567739580
|
|
NM_000243.3(MEFV):c.1012G>C (p.Val338Leu)
|
rs483353018
|
|
NM_000243.3(MEFV):c.1014T>G (p.Val338=)
|
|
|
NM_000243.3(MEFV):c.1017T>C (p.Ser339=)
|
|
|
NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg)
|
rs1959002154
|
|
NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu)
|
|
|
NM_000243.3(MEFV):c.1026C>A (p.Pro342=)
|
|
|
NM_000243.3(MEFV):c.1026C>T (p.Pro342=)
|
|
|
NM_000243.3(MEFV):c.1029G>T (p.Gln343His)
|
rs1959001872
|
|
NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser)
|
|
|
NM_000243.3(MEFV):c.1032C>G (p.Ala344=)
|
rs2141671903
|
|
NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu)
|
|
|
NM_000243.3(MEFV):c.1038C>A (p.Gly346=)
|
rs141090517
|
|
NM_000243.3(MEFV):c.1041C>T (p.Ser347=)
|
|
|
NM_000243.3(MEFV):c.1074C>G (p.Ser358=)
|
rs369382646
|
|
NM_000243.3(MEFV):c.1075C>A (p.His359Asn)
|
rs2141671836
|
|
NM_000243.3(MEFV):c.1081A>C (p.Arg361=)
|
rs2141671831
|
|
NM_000243.3(MEFV):c.1086G>A (p.Lys362=)
|
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.1092G>T (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.1099C>T (p.Leu367=)
|
|
|
NM_000243.3(MEFV):c.10A>G (p.Thr4Ala)
|
|
|
NM_000243.3(MEFV):c.1104C>T (p.Ser368=)
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
NM_000243.3(MEFV):c.1107C>G (p.Pro369=)
|
rs1276887157
|
|
NM_000243.3(MEFV):c.1107C>T (p.Pro369=)
|
|
|
NM_000243.3(MEFV):c.1108dup (p.Gln370fs)
|
rs1214124340
|
|
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro)
|
rs1218172738
|
|
NM_000243.3(MEFV):c.1117C>T (p.Pro373Ser)
|
rs1567234649
|
|
NM_000243.3(MEFV):c.1122G>A (p.Gln374=)
|
|
|
NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg)
|
rs1009404209
|
|
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly)
|
rs896909303
|
|
NM_000243.3(MEFV):c.1140G>A (p.Lys380=)
|
rs2141671739
|
|
NM_000243.3(MEFV):c.1141C>G (p.Gln381Glu)
|
|
|
NM_000243.3(MEFV):c.1141C>T (p.Gln381Ter)
|
|
|
NM_000243.3(MEFV):c.1143G>A (p.Gln381=)
|
|
|
NM_000243.3(MEFV):c.1143G>C (p.Gln381His)
|
|
|
NM_000243.3(MEFV):c.1147C>A (p.Gln383Lys)
|
rs104895188
|
|
NM_000243.3(MEFV):c.1155C>A (p.Leu385=)
|
rs2141671722
|
|
NM_000243.3(MEFV):c.1164G>A (p.Glu388=)
|
|
|
NM_000243.3(MEFV):c.1166A>T (p.Asp389Val)
|
rs786205886
|
|
NM_000243.3(MEFV):c.1170C>T (p.His390=)
|
rs1053913228
|
|
NM_000243.3(MEFV):c.117G>A (p.Arg39=)
|
|
|
NM_000243.3(MEFV):c.1182C>T (p.Ile394=)
|
rs2141671698
|
|
NM_000243.3(MEFV):c.1203T>C (p.Ser401=)
|
rs2141671682
|
|
NM_000243.3(MEFV):c.1207G>A (p.Glu403Lys)
|
|
|
NM_000243.3(MEFV):c.1212C>A (p.His404Gln)
|
rs561866815
|
|
NM_000243.3(MEFV):c.1221C>T (p.His407=)
|
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
NM_000243.3(MEFV):c.1230C>T (p.Arg410=)
|
|
|
NM_000243.3(MEFV):c.1239G>A (p.Glu413=)
|
|
|
NM_000243.3(MEFV):c.1248C>T (p.Ala416=)
|
|
|
NM_000243.3(MEFV):c.1251G>A (p.Leu417=)
|
rs2141671605
|
|
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys)
|
rs1958996963
|
|
NM_000243.3(MEFV):c.1255C>A (p.His419Asn)
|
rs2141671598
|
|
NM_000243.3(MEFV):c.1260+12C>T
|
|
|
NM_000243.3(MEFV):c.1260+14G>T
|
|
|
NM_000243.3(MEFV):c.1260+15C>A
|
rs1428962714
|
|
NM_000243.3(MEFV):c.1260+18G>A
|
rs104895136
|
|
NM_000243.3(MEFV):c.1260+7A>C
|
|
|
NM_000243.3(MEFV):c.1260+7A>G
|
rs1209491053
|
|
NM_000243.3(MEFV):c.1260+8C>T
|
|
|
NM_000243.3(MEFV):c.1261-10G>A
|
|
|
NM_000243.3(MEFV):c.1261-10G>C
|
rs767528614
|
|
NM_000243.3(MEFV):c.1261-16A>C
|
|
|
NM_000243.3(MEFV):c.1265A>G (p.Lys422Arg)
|
rs1958989238
|
|
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)
|
rs104895149
|
|
NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser)
|
|
|
NM_000243.3(MEFV):c.126G>A (p.Arg42=)
|
|
|
NM_000243.3(MEFV):c.126G>C (p.Arg42=)
|
|
|
NM_000243.3(MEFV):c.1281G>A (p.Leu427=)
|
|
|
NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp)
|
|
|
NM_000243.3(MEFV):c.1290G>C (p.Leu430=)
|
|
|
NM_000243.3(MEFV):c.1297C>G (p.Leu433Val)
|
rs1596354307
|
|
NM_000243.3(MEFV):c.129C>T (p.Ser43=)
|
rs2141679569
|
|
NM_000243.3(MEFV):c.12C>A (p.Thr4=)
|
rs2141679758
|
|
NM_000243.3(MEFV):c.1301_1302dup (p.Lys435fs)
|
rs2141671176
|
|
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln)
|
rs1958988591
|
|
NM_000243.3(MEFV):c.1308A>G (p.Ser436=)
|
|
|
NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs)
|
|
|
NM_000243.3(MEFV):c.130C>T (p.Gln44Ter)
|
rs1172820862
|
|
NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys)
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn)
|
|
|
NM_000243.3(MEFV):c.1329T>C (p.Tyr443=)
|
rs2141671129
|
|
NM_000243.3(MEFV):c.1335G>A (p.Glu445=)
|
|
|
NM_000243.3(MEFV):c.1347G>A (p.Val449=)
|
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
NM_000243.3(MEFV):c.1356+12G>C
|
rs587781036
|
|
NM_000243.3(MEFV):c.1356+13del
|
|
|
NM_000243.3(MEFV):c.1356+14T>A
|
|
|
NM_000243.3(MEFV):c.1356+14T>C
|
|
|
NM_000243.3(MEFV):c.1356+8C>T
|
|
|
NM_000243.3(MEFV):c.1357-13C>G
|
|
|
NM_000243.3(MEFV):c.1357-13C>T
|
|
|
NM_000243.3(MEFV):c.1357-16G>A
|
|
|
NM_000243.3(MEFV):c.1357-18C>T
|
|
|
NM_000243.3(MEFV):c.1357-27_1357-18del
|
|
|
NM_000243.3(MEFV):c.1357-4C>T
|
|
|
NM_000243.3(MEFV):c.1357-8C>T
|
|
|
NM_000243.3(MEFV):c.1357-9G>T
|
rs2141669286
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr)
|
|
|
NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp)
|
|
|
NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro)
|
|
|
NM_000243.3(MEFV):c.1383G>A (p.Arg461=)
|
rs2141669233
|
|
NM_000243.3(MEFV):c.1386G>T (p.Val462=)
|
rs768816084
|
|
NM_000243.3(MEFV):c.1389G>A (p.Gln463=)
|
rs766949042
|
|
NM_000243.3(MEFV):c.1395G>A (p.Lys465=)
|
rs2141669220
|
|
NM_000243.3(MEFV):c.1398G>A (p.Leu466=)
|
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1412A>C (p.Tyr471Ser)
|
|
|
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)
|
rs104895207
|
|
NM_000243.3(MEFV):c.1416C>T (p.Phe472=)
|
rs2141669188
|
|
NM_000243.3(MEFV):c.1419G>A (p.Leu473=)
|
|
|
NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)
|
|
|
NM_000243.3(MEFV):c.1431G>A (p.Glu477=)
|
rs1467779773
|
|
NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp)
|
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu)
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1441G>T (p.Val481Leu)
|
rs1487427766
|
|
NM_000243.3(MEFV):c.1443G>C (p.Val481=)
|
rs762403524
|
|
NM_000243.3(MEFV):c.1449A>G (p.Ser483=)
|
|
|
NM_000243.3(MEFV):c.1450C>T (p.Leu484=)
|
rs760827469
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.145A>C (p.Arg49=)
|
|
|
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp)
|
rs1596352746
|
|
NM_000243.3(MEFV):c.1465C>T (p.Gln489Ter)
|
rs1958954245
|
|
NM_000243.3(MEFV):c.1469T>C (p.Met490Thr)
|
rs2141669073
|
|
NM_000243.3(MEFV):c.1494T>C (p.Tyr498=)
|
rs2141669050
|
|
NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile)
|
|
|
NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)
|
|
|
NM_000243.3(MEFV):c.1500C>T (p.Thr500=)
|
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1502_1503delinsAT (p.Arg501His)
|
|
|
NM_000243.3(MEFV):c.1506A>G (p.Val502=)
|
|
|
NM_000243.3(MEFV):c.1506A>T (p.Val502=)
|
|
|
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs)
|
rs751375381
|
|
NM_000243.3(MEFV):c.1516A>G (p.Ile506Val)
|
rs104895186
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
NM_000243.3(MEFV):c.1524G>A (p.Leu508=)
|
|
|
NM_000243.3(MEFV):c.1527C>G (p.Leu509=)
|
|
|
NM_000243.3(MEFV):c.1530T>A (p.Asp510Glu)
|
rs224206
|
|
NM_000243.3(MEFV):c.1533G>C (p.Ala511=)
|
|
|
NM_000243.3(MEFV):c.153G>T (p.Val51=)
|
|
|
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)
|
rs104895168
|
|
NM_000243.3(MEFV):c.1551G>A (p.Glu517=)
|
|
|
NM_000243.3(MEFV):c.1552G>A (p.Ala518Thr)
|
rs2141668949
|
|
NM_000243.3(MEFV):c.1563C>T (p.Cys521=)
|
|
|
NM_000243.3(MEFV):c.1587+19G>A
|
|
|
NM_000243.3(MEFV):c.1587+29G>T
|
rs104895206
|
|
NM_000243.3(MEFV):c.1587+5G>A
|
rs1555458661
|
|
NM_000243.3(MEFV):c.1587+5G>T
|
rs1555458661
|
|
NM_000243.3(MEFV):c.1588-17C>G
|
|
|
NM_000243.3(MEFV):c.1588-19T>G
|
|
|
NM_000243.3(MEFV):c.1590C>T (p.Asp530=)
|
|
|
NM_000243.3(MEFV):c.1610+10G>A
|
|
|
NM_000243.3(MEFV):c.1610+11G>A
|
|
|
NM_000243.3(MEFV):c.1610+16G>C
|
|
|
NM_000243.3(MEFV):c.1610+17T>C
|
|
|
NM_000243.3(MEFV):c.1610+20T>C
|
rs771674059
|
|
NM_000243.3(MEFV):c.1610+5_1610+6insACCT
|
|
|
NM_000243.3(MEFV):c.1610+7C>T
|
|
|
NM_000243.3(MEFV):c.1611-19A>G
|
|
|
NM_000243.3(MEFV):c.1611-4C>G
|
|
|
NM_000243.3(MEFV):c.1614T>C (p.Ala538=)
|
|
|
NM_000243.3(MEFV):c.1619_1620del (p.Thr540fs)
|
rs1958911254
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
NM_000243.3(MEFV):c.1623G>A (p.Val541=)
|
|
|
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu)
|
rs1958911016
|
|
NM_000243.3(MEFV):c.1629C>G (p.Val543=)
|
|
|
NM_000243.3(MEFV):c.1629C>T (p.Val543=)
|
|
|
NM_000243.3(MEFV):c.162C>T (p.Ala54=)
|
rs2141679534
|
|
NM_000243.3(MEFV):c.1638G>A (p.Lys546=)
|
|
|
NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg)
|
|
|
NM_000243.3(MEFV):c.163A>G (p.Thr55Ala)
|
|
|
NM_000243.3(MEFV):c.1648C>G (p.Pro550Ala)
|
rs2141666419
|
|
NM_000243.3(MEFV):c.1651C>G (p.Gln551Glu)
|
|
|
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
|
|
|
NM_000243.3(MEFV):c.1664A>C (p.Gln555Pro)
|
rs1958910539
|
|
NM_000243.3(MEFV):c.1668G>C (p.Lys556Asn)
|
rs1567232255
|
|
NM_000243.3(MEFV):c.1671C>A (p.Ile557=)
|
|
|
NM_000243.3(MEFV):c.1675C>T (p.Leu559Phe)
|
rs104895113
|
|
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)
|
rs1033941048
|
|
NM_000243.3(MEFV):c.1686G>A (p.Gln562=)
|
rs779244985
|
|
NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly)
|
|
|
NM_000243.3(MEFV):c.1698T>C (p.Phe566=)
|
rs2141666345
|
|
NM_000243.3(MEFV):c.1719C>T (p.Tyr573=)
|
|
|
NM_000243.3(MEFV):c.1726+13G>A
|
|
|
NM_000243.3(MEFV):c.1727-10_1727-6del
|
|
|
NM_000243.3(MEFV):c.1727-12C>G
|
|
|
NM_000243.3(MEFV):c.1727-12C>T
|
rs1405568834
|
|
NM_000243.3(MEFV):c.1727-58T>C
|
rs104895158
|
|
NM_000243.3(MEFV):c.1727-9A>G
|
rs1958906845
|
|
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser)
|
rs104895193
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1734G>A (p.Leu578=)
|
|
|
NM_000243.3(MEFV):c.1736G>A (p.Arg579His)
|
rs574055513
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
NM_000243.3(MEFV):c.1759+13G>T
|
|
|
NM_000243.3(MEFV):c.1759+14T>A
|
|
|
NM_000243.3(MEFV):c.1759+14T>C
|
|
|
NM_000243.3(MEFV):c.1759+15A>G
|
rs1958905455
|
|
NM_000243.3(MEFV):c.1759+19G>T
|
rs2141666057
|
|
NM_000243.3(MEFV):c.1759+1G>T
|
rs876660996
|
|
NM_000243.3(MEFV):c.1759+7C>G
|
|
|
NM_000243.3(MEFV):c.1759+9A>G
|
|
|
NM_000243.3(MEFV):c.1760-13T>C
|
|
|
NM_000243.3(MEFV):c.1760-19A>G
|
rs917769808
|
|
NM_000243.3(MEFV):c.1760-1G>T
|
|
|
NM_000243.3(MEFV):c.1760-4G>C
|
rs79662406
|
|
NM_000243.3(MEFV):c.1760-7_1760-6del
|
|
|
NM_000243.3(MEFV):c.1760-8C>A
|
rs1567231839
|
|
NM_000243.3(MEFV):c.1763C>T (p.Pro588Leu)
|
rs775374556
|
|
NM_000243.3(MEFV):c.1764G>T (p.Pro588=)
|
rs1231122
|
|
NM_000243.3(MEFV):c.1767G>A (p.Glu589=)
|
rs879254216
|
|
NM_000243.3(MEFV):c.1773T>C (p.Ile591=)
|
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
NM_000243.3(MEFV):c.1792+10C>G
|
|
|
NM_000243.3(MEFV):c.1792+11A>G
|
|
|
NM_000243.3(MEFV):c.1792+15C>A
|
|
|
NM_000243.3(MEFV):c.1792+15C>T
|
|
|
NM_000243.3(MEFV):c.1792+16A>G
|
|
|
NM_000243.3(MEFV):c.1792+20C>G
|
|
|
NM_000243.3(MEFV):c.1792+57C>T
|
rs104895150
|
|
NM_000243.3(MEFV):c.1792+8C>T
|
|
|
NM_000243.3(MEFV):c.1792+9C>G
|
rs1401192826
|
|
NM_000243.3(MEFV):c.1793-14A>C
|
|
|
NM_000243.3(MEFV):c.1793-14A>G
|
rs104895141
|
|
NM_000243.3(MEFV):c.1793-2A>C
|
rs2141665238
|
|
NM_000243.3(MEFV):c.180C>T (p.Tyr60=)
|
rs371505752
|
|
NM_000243.3(MEFV):c.1812A>G (p.Ala604=)
|
|
|
NM_000243.3(MEFV):c.1818C>G (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.181T>A (p.Tyr61Asn)
|
rs768043268
|
|
NM_000243.3(MEFV):c.1821T>C (p.Ala607=)
|
rs2141665183
|
|
NM_000243.3(MEFV):c.1824C>T (p.Tyr608=)
|
|
|
NM_000243.3(MEFV):c.1827C>A (p.Pro609=)
|
|
|
NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys)
|
|
|
NM_000243.3(MEFV):c.183T>C (p.Tyr61=)
|
|
|
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe)
|
rs1332372034
|
|
NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn)
|
|
|
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn)
|
rs766576175
|
|
NM_000243.3(MEFV):c.1866T>C (p.Leu622=)
|
rs2141665140
|
|
NM_000243.3(MEFV):c.1884G>A (p.Arg628=)
|
|
|
NM_000243.3(MEFV):c.1887G>C (p.Leu629=)
|
rs1596350214
|
|
NM_000243.3(MEFV):c.1893T>C (p.Asp631=)
|
|
|
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
rs967990798
|
|
NM_000243.3(MEFV):c.1899G>T (p.Pro633=)
|
rs776315170
|
|
NM_000243.3(MEFV):c.1902A>G (p.Gln634=)
|
rs369107119
|
|
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly)
|
rs387907568
|
|
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)
|
rs104895115
|
|
NM_000243.3(MEFV):c.1920C>T (p.Ile640=)
|
|
|
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe)
|
rs104895147
|
|
NM_000243.3(MEFV):c.1927C>T (p.Leu643=)
|
|
|
NM_000243.3(MEFV):c.1933T>C (p.Ser645Pro)
|
rs2141665051
|
|
NM_000243.3(MEFV):c.1935T>A (p.Ser645=)
|
|
|
NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu)
|
rs2141665045
|
|
NM_000243.3(MEFV):c.1945C>G (p.Leu649Val)
|
rs2141665039
|
|
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro)
|
rs104895108
|
|
NM_000243.3(MEFV):c.1947C>G (p.Leu649=)
|
|
|
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr)
|
rs142748016
|
|
NM_000243.3(MEFV):c.1955G>A (p.Arg652His)
|
|
|
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)
|
rs104895084
|
|
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)
|
rs375716505
|
|
NM_000243.3(MEFV):c.1959T>C (p.Arg653=)
|
|
|
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)
|
rs104895086
|
|
NM_000243.3(MEFV):c.1969G>A (p.Val657Met)
|
rs1958892149
|
|
NM_000243.3(MEFV):c.1969G>C (p.Val657Leu)
|
|
|
NM_000243.3(MEFV):c.196G>A (p.Ala66Thr)
|
|
|
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe)
|
rs104895212
|
|
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn)
|
rs104895120
|
|
NM_000243.3(MEFV):c.1986G>A (p.Lys662=)
|
|
|
NM_000243.3(MEFV):c.1991C>T (p.Ala664Val)
|
rs2141664988
|
|
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val)
|
rs387907566
|
|
NM_000243.3(MEFV):c.1A>C (p.Met1Leu)
|
|
|
NM_000243.3(MEFV):c.2016A>T (p.Thr672=)
|
|
|
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)
|
rs1959115695
|
|
NM_000243.3(MEFV):c.2020A>G (p.Ile674Val)
|
rs1958891209
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg)
|
rs771759703
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)
|
rs104895090
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
NM_000243.3(MEFV):c.204G>A (p.Gln68=)
|
rs902893449
|
|
NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys)
|
rs587783378
|
|
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp)
|
rs375378545
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys)
|
rs104895122
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2064C>T (p.Tyr688=)
|
|
|
NM_000243.3(MEFV):c.2068G>A (p.Val690Met)
|
|
|
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
|
rs1281153557
|
|
NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val)
|
rs1596350035
|
|
NM_000243.3(MEFV):c.2076A>T (p.Ile692=)
|
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile)
|
rs104895215
|
|
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)
|
rs61752717
|
|
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys)
|
rs1596350022
|
|
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met)
|
rs104895094
|
|
NM_000243.3(MEFV):c.2085G>A (p.Lys695=)
|
|
|
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)
|
rs104895208
|
|
NM_000243.3(MEFV):c.2089A>C (p.Asn697His)
|
|
|
NM_000243.3(MEFV):c.2097C>T (p.Tyr699=)
|
rs1958888612
|
|
NM_000243.3(MEFV):c.209C>G (p.Thr70Ser)
|
rs775224100
|
|
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)
|
rs104895166
|
|
NM_000243.3(MEFV):c.210C>A (p.Thr70=)
|
|
|
NM_000243.3(MEFV):c.2112T>C (p.Val704=)
|
|
|
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser)
|
rs104895145
|
|
NM_000243.3(MEFV):c.2115C>G (p.Pro705=)
|
rs2141664787
|
|
NM_000243.3(MEFV):c.211C>T (p.Leu71=)
|
|
|
NM_000243.3(MEFV):c.2121C>G (p.Thr707=)
|
rs1366208284
|
|
NM_000243.3(MEFV):c.2121C>T (p.Thr707=)
|
rs1366208284
|
|
NM_000243.3(MEFV):c.2124C>T (p.Arg708=)
|
|
|
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg)
|
rs104895184
|
|
NM_000243.3(MEFV):c.2130A>G (p.Leu710=)
|
|
|
NM_000243.3(MEFV):c.213G>A (p.Leu71=)
|
rs2141679461
|
|
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met)
|
rs1596349932
|
|
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)
|
rs104895192
|
|
NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)
|
rs1959115414
|
|
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val)
|
rs1023300125
|
|
NM_000243.3(MEFV):c.2160C>T (p.Ile720=)
|
|
|
NM_000243.3(MEFV):c.2164G>C (p.Val722Leu)
|
|
|
NM_000243.3(MEFV):c.2164G>T (p.Val722Leu)
|
rs104895201
|
|
NM_000243.3(MEFV):c.2177T>G (p.Val726Gly)
|
|
|
NM_000243.3(MEFV):c.217G>A (p.Val73Ile)
|
rs2141679452
|
|
NM_000243.3(MEFV):c.2194T>C (p.Tyr732His)
|
|
|
NM_000243.3(MEFV):c.2204C>T (p.Thr735Ile)
|
rs1958885115
|
|
NM_000243.3(MEFV):c.2208C>T (p.Ala736=)
|
rs2141664612
|
|
NM_000243.3(MEFV):c.2220C>A (p.Ile740=)
|
rs1437902207
|
|
NM_000243.3(MEFV):c.2220C>T (p.Ile740=)
|
|
|
NM_000243.3(MEFV):c.2226A>G (p.Thr742=)
|
|
|
NM_000243.3(MEFV):c.2228T>A (p.Phe743Tyr)
|
rs104895216
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.222G>A (p.Leu74=)
|
|
|
NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly)
|
rs1407457811
|
|
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2250G>A (p.Gly750=)
|
|
|
NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter)
|
|
|
NM_000243.3(MEFV):c.2268C>T (p.Phe756=)
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
NM_000243.3(MEFV):c.2272C>T (p.Pro758Ser)
|
rs104895114
|
|
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser)
|
rs774807554
|
|
NM_000243.3(MEFV):c.2283T>C (p.Arg761=)
|
|
|
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)
|
rs2141664466
|
|
NM_000243.3(MEFV):c.228C>T (p.Ala76=)
|
|
|
NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala)
|
|
|
NM_000243.3(MEFV):c.2292G>A (p.Gly764=)
|
rs142352887
|
|
NM_000243.3(MEFV):c.2301A>G (p.Thr767=)
|
|
|
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)
|
rs387907565
|
|
NM_000243.3(MEFV):c.2310G>T (p.Leu770=)
|
|
|
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)
|
rs757708595
|
|
NM_000243.3(MEFV):c.2313T>A (p.Thr771=)
|
|
|
NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala)
|
rs1479429941
|
|
NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)
|
|
|
NM_000243.3(MEFV):c.2330dup (p.Gln778fs)
|
rs1596349724
|
|
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter)
|
rs1366885918
|
|
NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg)
|
rs2141664404
|
|
NM_000243.3(MEFV):c.243G>T (p.Leu81=)
|
|
|
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
rs150819742
|
|
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)
|
rs150819742
|
|
NM_000243.3(MEFV):c.252G>C (p.Glu84Asp)
|
|
|
NM_000243.3(MEFV):c.255G>A (p.Glu85=)
|
|
|
NM_000243.3(MEFV):c.25C>T (p.Leu9=)
|
rs104895146
|
|
NM_000243.3(MEFV):c.261C>T (p.His87=)
|
|
|
NM_000243.3(MEFV):c.261del (p.His87fs)
|
rs1959114310
|
|
NM_000243.3(MEFV):c.264G>A (p.Arg88=)
|
|
|
NM_000243.3(MEFV):c.265del (p.Ala89fs)
|
rs1959114278
|
|
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)
|
rs376971129
|
|
NM_000243.3(MEFV):c.268_271del (p.Ala90fs)
|
|
|
NM_000243.3(MEFV):c.277+16C>T
|
|
|
NM_000243.3(MEFV):c.277+17C>T
|
|
|
NM_000243.3(MEFV):c.277+18T>G
|
|
|
NM_000243.3(MEFV):c.277+1G>A
|
|
|
NM_000243.3(MEFV):c.277+1G>T
|
rs1328913013
|
|
NM_000243.3(MEFV):c.277+4A>C
|
|
|
NM_000243.3(MEFV):c.277+9G>A
|
rs2141679306
|
|
NM_000243.3(MEFV):c.278-10G>T
|
|
|
NM_000243.3(MEFV):c.278-11_278-9del
|
|
|
NM_000243.3(MEFV):c.278-20G>T
|
|
|
NM_000243.3(MEFV):c.278-5T>A
|
|
|
NM_000243.3(MEFV):c.278-8C>T
|
|
|
NM_000243.3(MEFV):c.27G>A (p.Leu9=)
|
|
|
NM_000243.3(MEFV):c.283T>C (p.Ser95Pro)
|
rs1463263180
|
|
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)
|
rs747515115
|
|
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)
|
rs772332566
|
|
NM_000243.3(MEFV):c.300C>A (p.Gly100=)
|
|
|
NM_000243.3(MEFV):c.303A>T (p.Thr101=)
|
|
|
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu)
|
rs387907569
|
|
NM_000243.3(MEFV):c.315A>G (p.Ala105=)
|
|
|
NM_000243.3(MEFV):c.321C>T (p.Ser107=)
|
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.324C>T (p.Ser108=)
|
|
|
NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)
|
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.330G>C (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.330G>T (p.Leu110=)
|
|
|
NM_000243.3(MEFV):c.334G>A (p.Glu112Lys)
|
rs1185925415
|
|
NM_000243.3(MEFV):c.334dup (p.Glu112fs)
|
rs104895109
|
|
NM_000243.3(MEFV):c.340A>C (p.Lys114Gln)
|
rs1252844849
|
|
NM_000243.3(MEFV):c.340A>G (p.Lys114Glu)
|
rs1252844849
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.343C>T (p.Pro115Ser)
|
|
|
NM_000243.3(MEFV):c.35C>T (p.Thr12Ile)
|
|
|
NM_000243.3(MEFV):c.363A>C (p.Pro121=)
|
|
|
NM_000243.3(MEFV):c.366C>T (p.Asp122=)
|
rs1407541437
|
|
NM_000243.3(MEFV):c.367C>G (p.His123Asp)
|
rs1959090836
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
NM_000243.3(MEFV):c.372C>A (p.Pro124=)
|
|
|
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
|
rs104895121
|
|
NM_000243.3(MEFV):c.375G>A (p.Glu125=)
|
rs104895142
|
|
NM_000243.3(MEFV):c.377G>A (p.Gly126Glu)
|
|
|
NM_000243.3(MEFV):c.378G>A (p.Gly126=)
|
rs777867857
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
NM_000243.3(MEFV):c.382G>A (p.Glu128Lys)
|
|
|
NM_000243.3(MEFV):c.383A>T (p.Glu128Val)
|
rs201172310
|
|
NM_000243.3(MEFV):c.384G>A (p.Glu128=)
|
|
|
NM_000243.3(MEFV):c.385G>A (p.Gly129Arg)
|
rs1344302872
|
|
NM_000243.3(MEFV):c.387G>A (p.Gly129=)
|
rs1271293463
|
|
NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)
|
|
|
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys)
|
rs780976880
|
|
NM_000243.3(MEFV):c.390C>T (p.Asn130=)
|
rs780976880
|
|
NM_000243.3(MEFV):c.392G>A (p.Gly131Asp)
|
rs1959090165
|
|
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu)
|
rs1959090017
|
|
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)
|
rs766323718
|
|
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)
|
rs876660989
|
|
NM_000243.3(MEFV):c.409G>A (p.Gly137Ser)
|
rs895839095
|
|
NM_000243.3(MEFV):c.410del (p.Gly137fs)
|
rs767006697
|
|
NM_000243.3(MEFV):c.411_412insT (p.Gly138fs)
|
rs758874425
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser)
|
rs1567237666
|
|
NM_000243.3(MEFV):c.423C>T (p.Ser141=)
|
|
|
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)
|
rs104895190
|
|
NM_000243.3(MEFV):c.429G>A (p.Arg143=)
|
|
|
NM_000243.3(MEFV):c.433A>C (p.Ser145Arg)
|
rs2141677519
|
|
NM_000243.3(MEFV):c.434G>C (p.Ser145Thr)
|
rs1342434040
|
|
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
rs876660990
|
|
NM_000243.3(MEFV):c.438G>A (p.Gln146=)
|
rs770111364
|
|
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)
|
rs876660991
|
|
NM_000243.3(MEFV):c.442G>A (p.Glu148Lys)
|
rs3743930
|
|
NM_000243.3(MEFV):c.450del (p.Arg151fs)
|
rs2141677468
|
|
NM_000243.3(MEFV):c.451A>T (p.Arg151Trp)
|
|
|
NM_000243.3(MEFV):c.453G>A (p.Arg151=)
|
rs104895185
|
|
NM_000243.3(MEFV):c.454G>C (p.Gly152Arg)
|
rs1266119651
|
|
NM_000243.3(MEFV):c.455G>C (p.Gly152Ala)
|
|
|
NM_000243.3(MEFV):c.462G>A (p.Ser154=)
|
rs1555459437
|
|
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)
|
rs483353017
|
|
NM_000243.3(MEFV):c.46C>T (p.Leu16=)
|
|
|
NM_000243.3(MEFV):c.474G>C (p.Leu158=)
|
|
|
NM_000243.3(MEFV):c.481C>G (p.Arg161Gly)
|
|
|
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)
|
rs104895106
|
|
NM_000243.3(MEFV):c.490A>T (p.Lys164Ter)
|
rs1306636942
|
|
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
rs766670643
|
|
NM_000243.3(MEFV):c.498G>A (p.Ser166=)
|
|
|
NM_000243.3(MEFV):c.498G>C (p.Ser166=)
|
rs763214197
|
|
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)
|
rs876660993
|
|
NM_000243.3(MEFV):c.513G>A (p.Ala171=)
|
|
|
NM_000243.3(MEFV):c.519C>G (p.Gly173=)
|
|
|
NM_000243.3(MEFV):c.523C>T (p.Pro175Ser)
|
|
|
NM_000243.3(MEFV):c.525T>G (p.Pro175=)
|
|
|
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)
|
rs1555459404
|
|
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)
|
rs104895125
|
|
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln)
|
rs104895134
|
|
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)
|
rs104895134
|
|
NM_000243.3(MEFV):c.540G>A (p.Pro180=)
|
rs104895139
|
|
NM_000243.3(MEFV):c.546G>A (p.Leu182=)
|
rs2141677287
|
|
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)
|
rs202196752
|
|
NM_000243.3(MEFV):c.547C>T (p.Pro183Ser)
|
|
|
NM_000243.3(MEFV):c.548C>G (p.Pro183Arg)
|
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
NM_000243.3(MEFV):c.549G>C (p.Pro183=)
|
|
|
NM_000243.3(MEFV):c.54C>T (p.Pro18=)
|
|
|
NM_000243.3(MEFV):c.552C>A (p.Gly184=)
|
|
|
NM_000243.3(MEFV):c.555G>C (p.Gly185=)
|
rs1959085819
|
|
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup)
|
rs761993422
|
|
NM_000243.3(MEFV):c.567C>G (p.Gly189=)
|
|
|
NM_000243.3(MEFV):c.568C>T (p.Pro190Ser)
|
rs1959085571
|
|
NM_000243.3(MEFV):c.570C>A (p.Pro190=)
|
rs2141677237
|
|
NM_000243.3(MEFV):c.570C>T (p.Pro190=)
|
rs2141677237
|
|
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr)
|
rs876660994
|
|
NM_000243.3(MEFV):c.579G>T (p.Ala193=)
|
|
|
NM_000243.3(MEFV):c.582A>G (p.Leu194=)
|
rs1010348269
|
|
NM_000243.3(MEFV):c.582A>T (p.Leu194=)
|
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp)
|
rs200766991
|
|
NM_000243.3(MEFV):c.585G>T (p.Glu195Asp)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)
|
rs104895179
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.587G>C (p.Gly196Ala)
|
|
|
NM_000243.3(MEFV):c.597C>T (p.Ala199=)
|
|
|
NM_000243.3(MEFV):c.597dup (p.Glu200fs)
|
rs1567237352
|
|
NM_000243.3(MEFV):c.5C>G (p.Ala2Gly)
|
rs200148051
|
|
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)
|
rs104895180
|
|
NM_000243.3(MEFV):c.611G>T (p.Arg204Leu)
|
rs775663363
|
|
NM_000243.3(MEFV):c.618C>T (p.Asn206=)
|
rs2141677135
|
|
NM_000243.3(MEFV):c.61T>C (p.Phe21Leu)
|
|
|
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
rs759326778
|
|
NM_000243.3(MEFV):c.629C>G (p.Ala210Gly)
|
|
|
NM_000243.3(MEFV):c.630G>A (p.Ala210=)
|
rs770830323
|
|
NM_000243.3(MEFV):c.630G>T (p.Ala210=)
|
rs770830323
|
|
NM_000243.3(MEFV):c.633G>A (p.Gly211=)
|
|
|
NM_000243.3(MEFV):c.636G>A (p.Arg212=)
|
|
|
NM_000243.3(MEFV):c.637C>T (p.Leu213=)
|
rs780525080
|
|
NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)
|
|
|
NM_000243.3(MEFV):c.63C>A (p.Phe21Leu)
|
|
|
NM_000243.3(MEFV):c.63C>T (p.Phe21=)
|
rs1959118627
|
|
NM_000243.3(MEFV):c.645G>A (p.Gly215=)
|
rs746562155
|
|
NM_000243.3(MEFV):c.648G>A (p.Leu216=)
|
rs912301729
|
|
NM_000243.3(MEFV):c.651G>A (p.Ala217=)
|
rs886051971
|
|
NM_000243.3(MEFV):c.651G>T (p.Ala217=)
|
rs886051971
|
|
NM_000243.3(MEFV):c.657C>G (p.Gly219=)
|
|
|
NM_000243.3(MEFV):c.65del (p.Glu22fs)
|
rs747811800
|
|
NM_000243.3(MEFV):c.664G>C (p.Gly222Arg)
|
rs772938936
|
|
NM_000243.3(MEFV):c.669G>A (p.Gln223=)
|
|
|
NM_000243.3(MEFV):c.682C>T (p.Pro228Ser)
|
rs1596358139
|
|
NM_000243.3(MEFV):c.683C>T (p.Pro228Leu)
|
|
|
NM_000243.3(MEFV):c.686T>G (p.Phe229Cys)
|
rs1959082299
|
|
NM_000243.3(MEFV):c.687C>T (p.Phe229=)
|
|
|
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)
|
rs104895080
|
|
NM_000243.3(MEFV):c.688G>T (p.Glu230Ter)
|
rs104895080
|
|
NM_000243.3(MEFV):c.690A>G (p.Glu230=)
|
rs746500055
|
|
NM_000243.3(MEFV):c.693G>C (p.Val231=)
|
|
|
NM_000243.3(MEFV):c.694T>C (p.Tyr232His)
|
rs104895205
|
|
NM_000243.3(MEFV):c.696C>T (p.Tyr232=)
|
|
|
NM_000243.3(MEFV):c.697C>T (p.Leu233=)
|
rs2141676970
|
|
NM_000243.3(MEFV):c.699G>A (p.Leu233=)
|
rs2141676964
|
|
NM_000243.3(MEFV):c.702C>G (p.Pro234=)
|
|
|
NM_000243.3(MEFV):c.702C>T (p.Pro234=)
|
rs2141676956
|
|
NM_000243.3(MEFV):c.705G>A (p.Ser235=)
|
|
|
NM_000243.3(MEFV):c.707G>T (p.Gly236Val)
|
rs104895159
|
|
NM_000243.3(MEFV):c.711G>T (p.Lys237Asn)
|
rs1053594972
|
|
NM_000243.3(MEFV):c.717A>T (p.Arg239=)
|
rs2141676929
|
|
NM_000243.3(MEFV):c.718C>G (p.Pro240Ala)
|
|
|
NM_000243.3(MEFV):c.718C>T (p.Pro240Ser)
|
rs1310144955
|
|
NM_000243.3(MEFV):c.721A>G (p.Arg241Gly)
|
|
|
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
|
|
|
NM_000243.3(MEFV):c.739A>G (p.Ile247Val)
|
rs1472692347
|
|
NM_000243.3(MEFV):c.744_745delinsCT (p.Thr249Ser)
|
rs2141676883
|
|
NM_000243.3(MEFV):c.749G>C (p.Gly250Ala)
|
|
|
NM_000243.3(MEFV):c.74A>G (p.Lys25Arg)
|
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.760C>T (p.Pro254Ser)
|
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000243.3(MEFV):c.762C>G (p.Pro254=)
|
rs61300437
|
|
NM_000243.3(MEFV):c.762C>T (p.Pro254=)
|
|
|
NM_000243.3(MEFV):c.766A>G (p.Asn256Asp)
|
rs1567237118
|
|
NM_000243.3(MEFV):c.778C>A (p.Leu260Ile)
|
|
|
NM_000243.3(MEFV):c.787C>T (p.Leu263=)
|
|
|
NM_000243.3(MEFV):c.790G>A (p.Glu264Lys)
|
rs1332262848
|
|
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
|
|
|
NM_000243.3(MEFV):c.803C>A (p.Ala268Asp)
|
rs104895123
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.804T>C (p.Ala268=)
|
|
|
NM_000243.3(MEFV):c.813G>A (p.Leu271=)
|
rs2141676760
|
|
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu)
|
rs483353019
|
|
NM_000243.3(MEFV):c.819G>A (p.Ser273=)
|
rs962267537
|
|
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter)
|
rs876660995
|
|
NM_000243.3(MEFV):c.831C>A (p.Pro277=)
|
|
|
NM_000243.3(MEFV):c.832C>A (p.Arg278=)
|
|
|
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro)
|
rs104895187
|
|
NM_000243.3(MEFV):c.834G>A (p.Arg278=)
|
|
|
NM_000243.3(MEFV):c.836C>T (p.Ala279Val)
|
rs1596357961
|
|
NM_000243.3(MEFV):c.847C>G (p.Pro283Ala)
|
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.849G>A (p.Pro283=)
|
rs747193370
|
|
NM_000243.3(MEFV):c.849G>T (p.Pro283=)
|
rs747193370
|
|
NM_000243.3(MEFV):c.854G>C (p.Gly285Ala)
|
|
|
NM_000243.3(MEFV):c.857G>C (p.Gly286Ala)
|
rs1959078224
|
|
NM_000243.3(MEFV):c.858G>C (p.Gly286=)
|
rs1190369014
|
|
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)
|
rs104895132
|
|
NM_000243.3(MEFV):c.867G>A (p.Ala289=)
|
rs984945497
|
|
NM_000243.3(MEFV):c.868G>A (p.Asp290Asn)
|
|
|
NM_000243.3(MEFV):c.881G>T (p.Gly294Val)
|
rs1959077891
|
|
NM_000243.3(MEFV):c.882C>T (p.Gly294=)
|
|
|
NM_000243.3(MEFV):c.884dup (p.Gly296fs)
|
rs1301893365
|
|
NM_000243.3(MEFV):c.894A>G (p.Pro298=)
|
rs1959077728
|
|
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)
|
rs104895167
|
|
NM_000243.3(MEFV):c.903G>T (p.Ser301=)
|
|
|
NM_000243.3(MEFV):c.908C>T (p.Thr303Ile)
|
|
|
NM_000243.3(MEFV):c.909C>A (p.Thr303=)
|
rs1429025477
|
|
NM_000243.3(MEFV):c.910+13C>A
|
|
|
NM_000243.3(MEFV):c.910+13C>G
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|
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NM_000243.3(MEFV):c.910+16T>C
|
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NM_000243.3(MEFV):c.910+17C>T
|
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NM_000243.3(MEFV):c.910+18C>T
|
|
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NM_000243.3(MEFV):c.911-11C>T
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NM_000243.3(MEFV):c.911-14C>T
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NM_000243.3(MEFV):c.911-15A>G
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NM_000243.3(MEFV):c.911-18dup
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NM_000243.3(MEFV):c.911-22T>G
|
rs104895189
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NM_000243.3(MEFV):c.911-4C>T
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rs1196184630
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NM_000243.3(MEFV):c.911-5C>A
|
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NM_000243.3(MEFV):c.911-5C>T
|
|
|
NM_000243.3(MEFV):c.911-9T>C
|
rs1596355109
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NM_000243.3(MEFV):c.916C>G (p.Pro306Ala)
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NM_000243.3(MEFV):c.916C>T (p.Pro306Ser)
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rs906390314
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NM_000243.3(MEFV):c.933G>A (p.Ala311=)
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rs774547197
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NM_000243.3(MEFV):c.939C>T (p.Pro313=)
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NM_000243.3(MEFV):c.943T>C (p.Cys315Arg)
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NM_000243.3(MEFV):c.949G>A (p.Ala317Thr)
|
|
|
NM_000243.3(MEFV):c.94A>T (p.Ser32Cys)
|
rs1959117976
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NM_000243.3(MEFV):c.951C>T (p.Ala317=)
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|
|
NM_000243.3(MEFV):c.954G>A (p.Gln318=)
|
|
|
NM_000243.3(MEFV):c.963C>A (p.Asp321Glu)
|
rs771969495
|
|
NM_000243.3(MEFV):c.965C>G (p.Pro322Arg)
|
|
|
NM_000243.3(MEFV):c.966A>G (p.Pro322=)
|
|
|
NM_000243.3(MEFV):c.967G>C (p.Val323Leu)
|
|
|
NM_000243.3(MEFV):c.973G>C (p.Gly325Arg)
|
rs146862274
|
|
NM_000243.3(MEFV):c.981T>C (p.Cys327=)
|
rs1275216443
|
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NM_000243.3(MEFV):c.983T>C (p.Val328Ala)
|
rs104895203
|
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NM_000243.3(MEFV):c.[2080A>G];[2177T>C]
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